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MCF2L2 MCF.2 cell line derived transforming sequence-like 2 [ Homo sapiens (human) ]

Gene ID: 23101, updated on 11-Apr-2024

Summary

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Official Symbol
MCF2L2provided by HGNC
Official Full Name
MCF.2 cell line derived transforming sequence-like 2provided by HGNC
Primary source
HGNC:HGNC:30319
See related
Ensembl:ENSG00000053524 MIM:619946; AllianceGenome:HGNC:30319
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ARHGEF22
Summary
Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of catalytic activity. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in brain (RPKM 2.9), bone marrow (RPKM 2.0) and 21 other tissues See more
Orthologs
all
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Genomic context

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Location:
3q27.1
Exon count:
34
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (183178041..183428619, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (185984948..186236035, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (182895829..183146407, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene lysosomal associated membrane protein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20885 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:182877289-182877788 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20886 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14937 Neighboring gene small nucleolar RNA, C/D box 3 pseudogene 4 Neighboring gene MPRA-validated peak4957 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr3:182951891-182952104 Neighboring gene uncharacterized LOC124906310 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:182980890-182981594 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:182983517-182984716 Neighboring gene RNA, 5S ribosomal pseudogene 151 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:183003113-183004312 Neighboring gene uncharacterized LOC107986160 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:183014350-183015174 Neighboring gene Sharpr-MPRA regulatory region 12547 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14938 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14939 Neighboring gene NANOG hESC enhancer GRCh37_chr3:183118178-183118679 Neighboring gene Sharpr-MPRA regulatory region 15184 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14940 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:183152219-183153159 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:183165063-183165598 Neighboring gene small nucleolar RNA SNORA81 Neighboring gene small nucleolar RNA, H/ACA box 63D Neighboring gene small nucleolar RNA host gene 33

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
  • 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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Related articles in PubMed

  1. Family-based association study of the MCF2L2 gene and polycystic ovary syndrome. Zheng Q, et al. Gynecol Obstet Invest, 2009. PMID 19648752
  2. Effects of MCF2L2, ADIPOQ and SOX2 genetic polymorphisms on the development of nephropathy in type 1 Diabetes Mellitus. Zhang D, et al. BMC Med Genet, 2010 Jul 28. PMID 20667095, Free PMC Article
  3. Search for type 2 diabetes susceptibility genes on chromosomes 1q, 3q and 12q. Takeuchi F, et al. J Hum Genet, 2008. PMID 18259684
  4. Identification and characterization of proteins interacting with SIRT1 and SIRT3: implications in the anti-aging and metabolic effects of sirtuins. Law IK, et al. Proteomics, 2009 May. PMID 19343720
  5. Engagement of the G3BP2-TRIM25 Interaction by Nucleocapsid Protein Suppresses the Type I Interferon Response in SARS-CoV-2-Infected Cells. Yang Z, et al. Vaccines (Basel), 2022 Nov 29. PMID 36560452, Free PMC Article

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: Effects of MCF2L2, ADIPOQ and SOX2 genetic polymorphisms on the development of nephropathy in type 1 Diabetes Mellitus.
  2. MCF2L2 Leu359Ile polymorphism is associated with decreased risk of diabetic nephropathy in female type 1 diabetes mellitus.
    Title: Effects of MCF2L2, ADIPOQ and SOX2 genetic polymorphisms on the development of nephropathy in type 1 Diabetes Mellitus.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  4. Results suggest that the genetic polymorphisms within MCF2L2 may confer an increased susceptibility to PCOS in the Chinese population. Data may provide a basis for further studies of the role of the MCF2L2 gene in the etiology of PCOS.
    Title: Family-based association study of the MCF2L2 gene and polycystic ovary syndrome.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Family-based association study of the MCF2L2 gene and polycystic ovary syndrome.
Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ42509, KIAA0861, DKFZp686H2395, DKFZp686K0690

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
probable guanine nucleotide exchange factor MCF2L2
Names
MCF2-transforming sequence-like protein 2
dbs-related Rho family guanine nucleotide exchange factor

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.

mRNA and Protein(s)

  1. NM_015078.4 → NP_055893.4  probable guanine nucleotide exchange factor MCF2L2

    Status: VALIDATED

    Source sequence(s)
    AC069417, AC092960, AC104641, AC112647
    Consensus CDS
    CCDS3243.1
    UniProtKB/Swiss-Prot
    O94942, Q6P2B8, Q6ZVJ5, Q86YR7, Q8N318
    UniProtKB/TrEMBL
    A0A2X0U2L0
    Related
    ENSP00000328118.3, ENST00000328913.8
    Conserved Domains (4) summary
    smart00325
    Location:623 → 820
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    smart00516
    Location:52 → 190
    SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
    cd00176
    Location:321 → 523
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cl17171
    Location:827 → 956
    PH-like; Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    183178041..183428619 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011512585.3 → XP_011510887.1  probable guanine nucleotide exchange factor MCF2L2 isoform X4

    See identical proteins and their annotated locations for XP_011510887.1

    Conserved Domains (4) summary
    smart00325
    Location:270 → 467
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd00176
    Location:2 → 170
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00169
    Location:504 → 600
    PH; PH domain
    cl17171
    Location:474 → 603
    PH-like; Pleckstrin homology-like domain

  2. XM_047447751.1 → XP_047303707.1  probable guanine nucleotide exchange factor MCF2L2 isoform X5

  3. XM_017005943.3 → XP_016861432.2  probable guanine nucleotide exchange factor MCF2L2 isoform X1

    UniProtKB/TrEMBL
    A0A2X0U2L0
    Conserved Domains (4) summary
    smart00325
    Location:623 → 820
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    smart00516
    Location:52 → 190
    SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
    cd00176
    Location:321 → 523
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cl17171
    Location:827 → 956
    PH-like; Pleckstrin homology-like domain

  4. XM_017005945.3 → XP_016861434.2  probable guanine nucleotide exchange factor MCF2L2 isoform X3

    Related
    ENSP00000388190.2, ENST00000447025.6
    Conserved Domains (2) summary
    smart00516
    Location:52 → 190
    SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
    cd00176
    Location:321 → 523
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  5. XM_017005946.3 → XP_016861435.2  probable guanine nucleotide exchange factor MCF2L2 isoform X3

    Related
    ENSP00000414131.2, ENST00000414362.6
    Conserved Domains (2) summary
    smart00516
    Location:52 → 190
    SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
    cd00176
    Location:321 → 523
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  6. XM_017005944.3 → XP_016861433.2  probable guanine nucleotide exchange factor MCF2L2 isoform X2

    Conserved Domains (2) summary
    smart00516
    Location:52 → 190
    SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
    cd00176
    Location:321 → 523
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    185984948..186236035 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054345762.1 → XP_054201737.1  probable guanine nucleotide exchange factor MCF2L2 isoform X4

  2. XM_054345763.1 → XP_054201738.1  probable guanine nucleotide exchange factor MCF2L2 isoform X5

  3. XM_054345758.1 → XP_054201733.1  probable guanine nucleotide exchange factor MCF2L2 isoform X1

  4. XM_054345760.1 → XP_054201735.1  probable guanine nucleotide exchange factor MCF2L2 isoform X3

  5. XM_054345761.1 → XP_054201736.1  probable guanine nucleotide exchange factor MCF2L2 isoform X3

  6. XM_054345759.1 → XP_054201734.1  probable guanine nucleotide exchange factor MCF2L2 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86YR7.3 GenPept UniProtKB/Swiss-Prot:Q86YR7

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