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SOX4 SRY-box transcription factor 4 [ Homo sapiens (human) ]

Gene ID: 6659, updated on 6-Sep-2021

Summary

Official Symbol
SOX4provided by HGNC
Official Full Name
SRY-box transcription factor 4provided by HGNC
Primary source
HGNC:HGNC:11200
See related
Ensembl:ENSG00000124766 MIM:184430
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
CSS10; EVI16
Summary
This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [provided by RefSeq, Jul 2008]
Orthologs
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Genomic context

See SOX4 in Genome Data Viewer
Location:
6p22.3
Exon count:
1
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (21593751..21598619)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (21593982..21598850)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 581 Neighboring gene uncharacterized LOC107986579 Neighboring gene bolA family member 2 pseudogene 3 Neighboring gene cancer susceptibility 15 Neighboring gene uncharacterized LOC105374970

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Coffin-Siris syndrome 10
MedGen: C4760583 OMIM: 618506 GeneReviews: Coffin-Siris Syndrome
not available
Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.
GeneReviews: Not available
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
GeneReviews: Not available
Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
 
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables miRNA binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables transcription cis-regulatory region binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in DNA damage response, detection of DNA damage IDA
Inferred from Direct Assay
more info
PubMed 
involved_in DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in T cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in ascending aorta morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in atrial septum primum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac right ventricle morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac ventricle formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cellular response to glucose stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endocrine pancreas development IEA
Inferred from Electronic Annotation
more info
 
involved_in glial cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in glial cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in glucose homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in hematopoietic stem cell homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in kidney morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in limb bud formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in mitral valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of cell death ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of protein ubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neural tube formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neuroepithelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in noradrenergic neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of N-terminal peptidyl-lysine acetylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of canonical Wnt signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of gamma-delta T cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of insulin secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of translation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in pro-B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein stabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of protein stability IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
involved_in skeletal system development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in somatic stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
 
involved_in spinal cord development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in spinal cord motor neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in sympathetic nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in ventricular septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
part_of transcription regulator complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
transcription factor SOX-4
Names
SRY (sex determining region Y)-box 4
SRY-box 4
SRY-related HMG-box gene 4
ecotropic viral integration site 16

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_029166.1 RefSeqGene

    Range
    5011..9879
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003107.3NP_003098.1  transcription factor SOX-4

    See identical proteins and their annotated locations for NP_003098.1

    Status: REVIEWED

    Source sequence(s)
    AJ420500, AL136179, BM817788, CF147018, CN419098, CX873598, HY065060, X70683
    Consensus CDS
    CCDS4547.1
    UniProtKB/Swiss-Prot
    Q06945
    Related
    ENSP00000244745.1, ENST00000244745.4
    Conserved Domains (1) summary
    cd01388
    Location:58129
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    21593751..21598619
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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