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GTF2I general transcription factor IIi [ Homo sapiens (human) ]

Gene ID: 2969, updated on 3-Nov-2024

Summary

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Official Symbol
GTF2Iprovided by HGNC
Official Full Name
general transcription factor IIiprovided by HGNC
Primary source
HGNC:HGNC:4659
See related
Ensembl:ENSG00000263001 MIM:601679; AllianceGenome:HGNC:4659
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
WBS; DIWS; SPIN; IB291; BAP135; BTKAP1; TFII-I; WBSCR6; GTFII-I
Summary
This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the initiator element (Inr) and E-box element in promoters and functions as a regulator of transcription. This locus, along with several other neighboring genes, is deleted in Williams-Beuren syndrome. There are many closely related genes and pseudogenes for this gene on chromosome 7. This gene also has pseudogenes on chromosomes 9, 13, and 21. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2013]
Expression
Ubiquitous expression in brain (RPKM 105.1), thyroid (RPKM 95.5) and 25 other tissues See more
Orthologs
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Genomic context

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See GTF2I in Genome Data Viewer
Location:
7q11.23
Exon count:
35
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (74657718..74760692)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (75860000..75962983)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (74072044..74175022)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene GTF2I repeat domain containing 1 Neighboring gene Williams-Beuren syndrome chromosome region 23 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73995345-73995846 Neighboring gene Sharpr-MPRA regulatory region 2459 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74001529-74002116 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74002117-74002703 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18282 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74031162-74031727 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74031728-74032292 Neighboring gene microRNA 10525 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18286 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18285 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18288 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26169 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26170 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74075507-74076155 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26175 Neighboring gene GTF2I antisense RNA 1 Neighboring gene Williams-Beuren syndrome medial block B recombination region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:74181785-74182286 Neighboring gene PHB1 pseudogene 15 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74186639-74187184 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74201830-74202532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:74203411-74204070 Neighboring gene GTF2I repeat domain containing 2 Neighboring gene neutrophil cytosolic factor 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ChIP-seq analysis found IL21R, a target gene of GTF2I-the susceptibility gene for primary biliary cholangitis in Chinese Han.
    Title: ChIP-seq analysis found IL21R, a target gene of GTF2I-the susceptibility gene for primary biliary cholangitis in Chinese Han.
  2. Loss of GTF2I promotes neuronal apoptosis and synaptic reduction in human cellular models of neurodevelopment.
    Title: Loss of GTF2I promotes neuronal apoptosis and synaptic reduction in human cellular models of neurodevelopment.
  3. GTF2I mutation in micronodular thymoma with lymphoid stroma.
    Title: GTF2I mutation in micronodular thymoma with lymphoid stroma.
  4. Neuronal Gtf2i deletion alters mitochondrial and autophagic properties.
    Title: Neuronal Gtf2i deletion alters mitochondrial and autophagic properties.
  5. DUX4-r exerts a neomorphic activity that depends on GTF2I in acute lymphoblastic leukemia.
    Title: DUX4-r exerts a neomorphic activity that depends on GTF2I in acute lymphoblastic leukemia.
  6. Significance of YAP1-MAML2 rearrangement and GTF2I mutation in the diagnosis and differential diagnosis of metaplastic thymoma.
    Title: Significance of YAP1-MAML2 rearrangement and GTF2I mutation in the diagnosis and differential diagnosis of metaplastic thymoma.
  7. Unique correlation between GTF2I mutation and spindle cell morphology in thymomas (type A and AB thymomas).
    Title: Unique correlation between GTF2I mutation and spindle cell morphology in thymomas (type A and AB thymomas).
  8. Identification and validation of immune related core transcription factors GTF2I in NAFLD.
    Title: Identification and validation of immune related core transcription factors GTF2I in NAFLD.
  9. GTF2I Mutation in Thymomas: Independence From Racial-Ethnic Backgrounds. An Indian/German Comparative Study.
    Title: GTF2I Mutation in Thymomas: Independence From Racial-Ethnic Backgrounds. An Indian/German Comparative Study.
  10. Sjogren's syndrome-associated SNPs increase GTF2I expression in salivary gland cells to enhance inflammation development.
    Title: Sjögren's syndrome-associated SNPs increase GTF2I expression in salivary gland cells to enhance inflammation development.
Submit: New GeneRIF Correction See all GeneRIFs (70)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2012-08-08)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2012-08-08)

ClinGen Genome Curation Page

EBI GWAS Catalog

Description
A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23.
EBI GWAS Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat Inhibition of SREBP2 activity reduces TFII-I induction in response to HIV-1 infection or activation of human primary CD4(+) T cells and TFII-I contributes to Tat-dependent viral gene expression PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ36344, FLJ38776, FLJ56355

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
 PubMed 
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within negative regulation of angiogenesis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in membrane HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
general transcription factor II-I
Names
BTK-associated protein, 135kD
Bruton tyrosine kinase-associated protein 135
SRF-Phox1-interacting protein
Williams-Beuren syndrome chromosome region 6

NCBI Reference Sequences (RefSeq)

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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_008179.2 RefSeqGene

    Range
    5029..108003
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001163636.3 → NP_001157108.1  general transcription factor II-I isoform 5

    See identical proteins and their annotated locations for NP_001157108.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate in-frame splice site and lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (5) is shorter than isoform 1.
    Source sequence(s)
    AA641906, AF035737, AK292832, BC099907, CB118501
    UniProtKB/TrEMBL
    Q499G6
    Conserved Domains (1) summary
    pfam02946
    Location:112 → 186
    GTF2I; GTF2I-like repeat

  2. NM_001280800.2 → NP_001267729.1  general transcription factor II-I isoform 6

    See identical proteins and their annotated locations for NP_001267729.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks multiple coding exons and its transcription extends past a splice site used in variant 1, resulting in a distinct 3' coding region and 3' UTR. The encoded isoform (6) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AF015553, BC004472
    Consensus CDS
    CCDS64680.1
    UniProtKB/TrEMBL
    X5D7Q9
    Related
    ENSP00000404240.1, ENST00000443166.5
    Conserved Domains (1) summary
    pfam02946
    Location:112 → 184
    GTF2I; GTF2I-like repeat

  3. NM_001518.5 → NP_001509.3  general transcription factor II-I isoform 4

    See identical proteins and their annotated locations for NP_001509.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate in-frame exons, compared to variant 1. The encoded isoform (4, also known as delta) is shorter than isoform 1.
    Source sequence(s)
    AA641906, AF035737, AK292832, BC070484, BC099907, CB118501
    Consensus CDS
    CCDS47614.1
    UniProtKB/TrEMBL
    Q499G6, X5D2J9
    Related
    ENSP00000477837.1, ENST00000620879.4
    Conserved Domains (1) summary
    pfam02946
    Location:112 → 186
    GTF2I; GTF2I-like repeat

  4. NM_032999.4 → NP_127492.1  general transcription factor II-I isoform 1

    See identical proteins and their annotated locations for NP_127492.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1, also known as gamma).
    Source sequence(s)
    AA641906, AF015553, AF035737, AK292832, BC099907, CB118501
    Consensus CDS
    CCDS5573.1
    UniProtKB/Swiss-Prot
    O14743, O15359, O43546, O43588, O43589, P78347, Q75M85, Q75M86, Q75M87, Q75M88, Q86U51, Q9BSZ4
    UniProtKB/TrEMBL
    B4DH52, X5DR09
    Related
    ENSP00000460070.1, ENST00000573035.6
    Conserved Domains (1) summary
    pfam02946
    Location:112 → 186
    GTF2I; GTF2I-like repeat

  5. NM_033000.4 → NP_127493.1  general transcription factor II-I isoform 2

    See identical proteins and their annotated locations for NP_127493.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (2, also known as beta) is shorter than isoform 1.
    Source sequence(s)
    AA641906, AF015553, AF038967, AK292832, BC099907, CB118501
    Consensus CDS
    CCDS5574.1
    UniProtKB/TrEMBL
    A8K9W7, X5DNP5
    Related
    ENSP00000484526.1, ENST00000614986.4
    Conserved Domains (1) summary
    pfam02946
    Location:112 → 186
    GTF2I; GTF2I-like repeat

  6. NM_033001.4 → NP_127494.1  general transcription factor II-I isoform 3

    See identical proteins and their annotated locations for NP_127494.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (3, also known as alpha) is shorter than isoform 1.
    Source sequence(s)
    AA641906, AF015553, AF038968, AK292832, BC099907, CB118501
    Consensus CDS
    CCDS5575.1
    UniProtKB/TrEMBL
    Q499G6, X5D939
    Related
    ENSP00000482476.1, ENST00000621734.4
    Conserved Domains (1) summary
    pfam02946
    Location:112 → 186
    GTF2I; GTF2I-like repeat

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    74657718..74760692
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    75860000..75962983
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P78347.2 GenPept UniProtKB/Swiss-Prot:P78347

Gene LinkOut

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Chemical Information
Medical
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