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    TCF7L2 transcription factor 7 like 2 [ Homo sapiens (human) ]

    Gene ID: 6934, updated on 3-Nov-2024

    Summary

    Official Symbol
    TCF7L2provided by HGNC
    Official Full Name
    transcription factor 7 like 2provided by HGNC
    Primary source
    HGNC:HGNC:11641
    See related
    Ensembl:ENSG00000148737 MIM:602228; AllianceGenome:HGNC:11641
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TCF4; TCF-4
    Summary
    This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]
    Annotation information
    Note: TCF4 (Gene ID: 6925) and TCF7L2 (Gene ID: 6934) loci share the TCF4 symbol/alias in common. TCF4 is a widely used alternative name for T-cell-specific transcription factor 4 (TCF7L2) conflicting with the official symbol for transcription factor 4 (TCF4). [08 Feb 2019]
    Expression
    Ubiquitous expression in fat (RPKM 12.8), colon (RPKM 11.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TCF7L2 in Genome Data Viewer
    Location:
    10q25.2-q25.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (112950247..113167678)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (113841538..114058955)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (114710006..114927437)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene vesicle transport through interaction with t-SNAREs 1A Neighboring gene uncharacterized LOC103344931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4068 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:114658623-114659435 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:114661023-114661523 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:114672820-114673320 Neighboring gene MPRA-validated peak1093 silencer Neighboring gene long intergenic non-protein coding RNA 2935 Neighboring gene uncharacterized LOC124902502 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:114717259-114717893 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:114722581-114723081 Neighboring gene Sharpr-MPRA regulatory region 3715 Neighboring gene Sharpr-MPRA regulatory region 6419 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2835 Neighboring gene VISTA enhancer hs1980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:114766090-114766810 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:114766811-114767531 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:114780025-114780562 Neighboring gene ribosomal protein S15a pseudogene 30 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:114803814-114804812 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr10:114812726-114813704 and GRCh37_chr10:114813705-114814683 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:114816611-114817110 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:114817902-114818530 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:114833929-114834698 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:114836009-114836602 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:114838433-114838934 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:114846446-114846998 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:114860474-114860640 Neighboring gene small nucleolar RNA, H/ACA box 87 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2836 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:114894802-114895390 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:114935734-114935902 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:114943039-114943540 Neighboring gene NANOG hESC enhancer GRCh37_chr10:115012887-115013388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4069 Neighboring gene uncharacterized LOC105378490 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:115112200-115113399 Neighboring gene RNA, U7 small nuclear 165 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Type 2 diabetes mellitus
    MedGen: C0011860 OMIM: 125853 GeneReviews: WFS1 Spectrum Disorder
    not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2019-03-27)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2019-03-27)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
    EBI GWAS Catalog
    A genome-wide association study identifies novel risk loci for type 2 diabetes.
    EBI GWAS Catalog
    A genome-wide association study of the metabolic syndrome in Indian Asian men.
    EBI GWAS Catalog
    A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.
    EBI GWAS Catalog
    A variant in CDKAL1 influences insulin response and risk of type 2 diabetes.
    EBI GWAS Catalog
    Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.
    EBI GWAS Catalog
    Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.
    EBI GWAS Catalog
    Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia.
    EBI GWAS Catalog
    Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.
    EBI GWAS Catalog
    Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
    EBI GWAS Catalog
    Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.
    EBI GWAS Catalog
    Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21.
    EBI GWAS Catalog
    Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.
    EBI GWAS Catalog
    Genome-wide association study identifies three novel loci for type 2 diabetes.
    EBI GWAS Catalog
    Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
    EBI GWAS Catalog
    Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
    EBI GWAS Catalog
    Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
    EBI GWAS Catalog
    Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
    EBI GWAS Catalog
    Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
    EBI GWAS Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    EBI GWAS Catalog
    Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
    EBI GWAS Catalog
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.
    EBI GWAS Catalog
    New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
    EBI GWAS Catalog
    Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.
    EBI GWAS Catalog
    Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico.
    EBI GWAS Catalog
    Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.
    EBI GWAS Catalog
    The TCF7L2 diabetes risk variant is associated with HbA₁(C) levels: a genome-wide association meta-analysis.
    EBI GWAS Catalog
    Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
    EBI GWAS Catalog
    Type 2 diabetes whole-genome association study in four populations: the DiaGen consortium.
    EBI GWAS Catalog
    Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of Beta-catenin (CTNNB1) and transcription factor 4 (TCF4) by siRNA enhances HIV-1 transcription in astrocytes PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 downregulates the expression of transcription factor 7-like 2 (TCF7L2) in human B cells PubMed
    Tat tat Expression of TCF-4 in human astrocytic cells decreased HIV-1 Tat-mediated transcription of the HIV-1 LTR, while GST pull-down assays revealed a direct interaction of Tat with TCF-4, suggesting TCF-4 may regulate the level of HIV-1 gene transcription PubMed
    tat TCF4 and beta-catenin proteins inhibit docking of HIV-1 Tat at the TAR region of the HIV-1 LTR PubMed
    tat Axin1 regulates HIV-1 Tat-mediated transcription, which requires beta-catenin and TCF4 PubMed
    tat HIV-1 Tat expression inhibits the TCF-4-induced inhibition of Sp1 phosphorylation and Sp1-mediated HIV-1 LTR transcription PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: VTI1A

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables armadillo repeat domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables beta-catenin binding EXP
    Inferred from Experiment
    more info
    PubMed 
    enables beta-catenin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables beta-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables gamma-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables nuclear receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables promoter-specific chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sequence-specific DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in blood vessel development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in canonical Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in canonical Wnt signaling pathway IC
    Inferred by Curator
    more info
    PubMed 
    involved_in canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in fat cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in glucose homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in maintenance of DNA repeat elements IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in myoblast fate commitment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of extrinsic apoptotic signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of gluconeogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of type B pancreatic cell apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in pancreas development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of epithelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of epithelial to mesenchymal transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of heparan sulfate proteoglycan biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of insulin secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein localization to nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of hormone metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of smooth muscle cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to glucose ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in PML body IEA
    Inferred from Electronic Annotation
    more info
     
    part_of beta-catenin-TCF complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of beta-catenin-TCF7L2 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of catenin-TCF7L2 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-DNA complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    transcription factor 7-like 2
    Names
    HMG box transcription factor 4
    T-cell factor 4
    T-cell-specific transcription factor 4
    hTCF-4
    transcription factor 7-like 2 (T-cell specific, HMG-box)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012631.1 RefSeqGene

      Range
      4998..222429
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001146274.2 → NP_001139746.1  transcription factor 7-like 2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform.
      Source sequence(s)
      AL158212, AL445486, AL451084
      Consensus CDS
      CCDS53577.1
      UniProtKB/TrEMBL
      A0A2Z5HTM8
      Related
      ENSP00000486891.1, ENST00000627217.3
      Conserved Domains (2) summary
      pfam08347
      Location:17 → 259
      CTNNB1_binding; N-terminal CTNNB1 binding
      cd21996
      Location:349 → 433
      HMG-box_TCF7-like; high mobility group (HMG)-box found in the transcription factor 7 (TCF-7)-like family
    2. NM_001146283.2 → NP_001139755.1  transcription factor 7-like 2 isoform 3

      See identical proteins and their annotated locations for NP_001139755.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL135792, AL158212, AL445486, AL451084
      Consensus CDS
      CCDS53578.1
      UniProtKB/TrEMBL
      C6ZRK1
      Related
      ENSP00000347949.4, ENST00000355717.9
      Conserved Domains (2) summary
      pfam08347
      Location:17 → 283
      CTNNB1_binding; N-terminal CTNNB1 binding
      cd21996
      Location:373 → 457
      HMG-box_TCF7-like; high mobility group (HMG)-box found in the transcription factor 7 (TCF-7)-like family
    3. NM_001146284.2 → NP_001139756.1  transcription factor 7-like 2 isoform 4

      See identical proteins and their annotated locations for NP_001139756.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 4) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL158212, AL445486, AL451084
      UniProtKB/TrEMBL
      C6ZRK1
      Conserved Domains (2) summary
      cd01388
      Location:326 → 393
      SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
      pfam08347
      Location:17 → 236
      CTNNB1_binding; N-terminal CTNNB1 binding
    4. NM_001146285.2 → NP_001139757.1  transcription factor 7-like 2 isoform 5

      See identical proteins and their annotated locations for NP_001139757.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 5, which is shorter than isoform 1.
      Source sequence(s)
      AL158212, AL445486, AL451084
      Consensus CDS
      CCDS73197.1
      UniProtKB/TrEMBL
      C6ZRK5, E2GH23, Q5JRY5
      Related
      ENSP00000277945.8, ENST00000277945.12
      Conserved Domains (2) summary
      cd01388
      Location:330 → 397
      SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
      pfam08347
      Location:17 → 236
      CTNNB1_binding; N-terminal CTNNB1 binding
    5. NM_001146286.2 → NP_001139758.1  transcription factor 7-like 2 isoform 6

      See identical proteins and their annotated locations for NP_001139758.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 6) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL158212, AL445486, AL451084
      UniProtKB/TrEMBL
      C6ZRK1
      Conserved Domains (2) summary
      cd01388
      Location:330 → 397
      SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
      pfam08347
      Location:17 → 236
      CTNNB1_binding; N-terminal CTNNB1 binding
    6. NM_001198525.2 → NP_001185454.1  transcription factor 7-like 2 isoform 7

      See identical proteins and their annotated locations for NP_001185454.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 7) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL158212, AL451084, DA473655, FJ010166, FJ010170
      Consensus CDS
      CCDS73196.1
      UniProtKB/TrEMBL
      C6ZRJ7, C6ZRK1
      Related
      ENSP00000440547.2, ENST00000545257.6
      Conserved Domains (2) summary
      cd01388
      Location:335 → 402
      SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
      pfam08347
      Location:17 → 236
      CTNNB1_binding; N-terminal CTNNB1 binding
    7. NM_001198526.2 → NP_001185455.1  transcription factor 7-like 2 isoform 8

      See identical proteins and their annotated locations for NP_001185455.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 8, which is shorter than isoform 1.
      Source sequence(s)
      AL158212, AL451084, DA473655, FJ010167
      UniProtKB/TrEMBL
      E2GH23
      Related
      ENSP00000487507.1, ENST00000629706.2
      Conserved Domains (2) summary
      cd01388
      Location:330 → 397
      SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
      pfam08347
      Location:17 → 236
      CTNNB1_binding; N-terminal CTNNB1 binding
    8. NM_001198527.2 → NP_001185456.1  transcription factor 7-like 2 isoform 9

      See identical proteins and their annotated locations for NP_001185456.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 9) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL158212, AL451084, DA473655, FJ010168
      Consensus CDS
      CCDS81504.1
      UniProtKB/TrEMBL
      C6ZRJ9, C6ZRK1, Q5VVR7
      Related
      ENSP00000358402.2, ENST00000369395.6
      Conserved Domains (2) summary
      cd01388
      Location:326 → 393
      SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
      pfam08347
      Location:17 → 236
      CTNNB1_binding; N-terminal CTNNB1 binding
    9. NM_001198528.2 → NP_001185457.1  transcription factor 7-like 2 isoform 10

      See identical proteins and their annotated locations for NP_001185457.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 10) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL158212, AL451084, DA473655, FJ010169
      Consensus CDS
      CCDS55729.1
      UniProtKB/TrEMBL
      C6ZRK1
      Related
      ENSP00000344823.5, ENST00000352065.10
      Conserved Domains (2) summary
      cd01388
      Location:330 → 397
      SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
      pfam08347
      Location:17 → 236
      CTNNB1_binding; N-terminal CTNNB1 binding
    10. NM_001198529.2 → NP_001185458.1  transcription factor 7-like 2 isoform 11

      See identical proteins and their annotated locations for NP_001185458.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 11) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL158212, AL451084, DA473655, FJ010170
      Consensus CDS
      CCDS91349.1
      UniProtKB/TrEMBL
      A0A994J711, C6ZRK1
      Related
      ENSP00000515891.1, ENST00000704414.1
      Conserved Domains (2) summary
      cd01388
      Location:330 → 397
      SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
      pfam08347
      Location:17 → 236
      CTNNB1_binding; N-terminal CTNNB1 binding
    11. NM_001198530.2 → NP_001185459.1  transcription factor 7-like 2 isoform 12

      See identical proteins and their annotated locations for NP_001185459.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 12) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL158212, AL451084, DA473655, FJ010171
      Consensus CDS
      CCDS73198.1
      UniProtKB/TrEMBL
      A0A0A0MTL7, C6ZRK2
      Related
      ENSP00000443626.2, ENST00000534894.5
      Conserved Domains (2) summary
      cd01388
      Location:296 → 363
      SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
      pfam08347
      Location:17 → 202
      CTNNB1_binding; N-terminal CTNNB1 binding
    12. NM_001198531.2 → NP_001185460.1  transcription factor 7-like 2 isoform 13

      See identical proteins and their annotated locations for NP_001185460.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 13) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AB440195, AL158212, AL451084, DA473655
      UniProtKB/TrEMBL
      E2GH15
      Conserved Domains (2) summary
      pfam08347
      Location:17 → 259
      CTNNB1_binding; N-terminal CTNNB1 binding
      cd21996
      Location:349 → 433
      HMG-box_TCF7-like; high mobility group (HMG)-box found in the transcription factor 7 (TCF-7)-like family
    13. NM_001349870.2 → NP_001336799.1  transcription factor 7-like 2 isoform 14

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14) lacks alternate exons in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (14) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL451084
      UniProtKB/TrEMBL
      A0A1B0GVE1, B4DJZ2
      Related
      ENSP00000490478.2, ENST00000637574.2
      Conserved Domains (2) summary
      cd01388
      Location:210 → 277
      SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
      pfam08347
      Location:42 → 116
      CTNNB1_binding; N-terminal CTNNB1 binding
    14. NM_001349871.1 → NP_001336800.1  transcription factor 7-like 2 isoform 15

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15) lacks alternate exons in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (15) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL135792, AL451084
      Consensus CDS
      CCDS91350.1
      UniProtKB/TrEMBL
      B7Z9Z6, Q5JRY4, Q5VVR8
      Related
      ENSP00000358396.3, ENST00000369389.7
      Conserved Domains (2) summary
      cd01388
      Location:170 → 237
      SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
      pfam08347
      Location:2 → 76
      CTNNB1_binding; N-terminal CTNNB1 binding
    15. NM_001363501.2 → NP_001350430.1  transcription factor 7-like 2 isoform 16

      Status: REVIEWED

      Source sequence(s)
      AL158212, AL445486, AL451084
      Consensus CDS
      CCDS86148.1
      UniProtKB/TrEMBL
      E2GH15
      Related
      ENSP00000446172.1, ENST00000538897.5
      Conserved Domains (2) summary
      cd01388
      Location:353 → 420
      SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
      pfam08347
      Location:17 → 259
      CTNNB1_binding; N-terminal CTNNB1 binding
    16. NM_001367943.1 → NP_001354872.1  transcription factor 7-like 2 isoform 17

      Status: REVIEWED

      Source sequence(s)
      BC032656, BM701919, BQ900611, BU619467, DA394991, DA590466, HM352850, Z99386
      Consensus CDS
      CCDS91348.1
      UniProtKB/Swiss-Prot
      B4DRJ8, B9X074, C6ZRJ8, C6ZRK0, E2GH14, E2GH19, E2GH20, E2GH24, E2GH25, E9PFH9, F8W742, F8W7T5, O00185, Q9NQB0, Q9NQB1, Q9NQB2, Q9NQB3, Q9NQB4, Q9NQB5, Q9NQB6, Q9NQB7, Q9ULC2
      UniProtKB/TrEMBL
      E2GH23
      Related
      ENSP00000348274.4, ENST00000355995.9
      Conserved Domains (2) summary
      cd01388
      Location:353 → 420
      SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
      pfam08347
      Location:17 → 259
      CTNNB1_binding; N-terminal CTNNB1 binding
    17. NM_030756.5 → NP_110383.2  transcription factor 7-like 2 isoform 2

      See identical proteins and their annotated locations for NP_110383.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AL158212, AL445486, AL451084
      Consensus CDS
      CCDS7576.1
      UniProtKB/TrEMBL
      E2GH23, Q6FHW4
      Related
      ENSP00000358404.4, ENST00000369397.8
      Conserved Domains (2) summary
      cd01388
      Location:330 → 397
      SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...
      pfam08347
      Location:17 → 236
      CTNNB1_binding; N-terminal CTNNB1 binding

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      112950247..113167678
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      113841538..114058955
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)