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

Gene ID: 6659, updated on 3-Sep-2017
Official Symbol
SOX4provided by HGNC
Official Full Name
SRY-box 4provided by HGNC
Primary source
HGNC:HGNC:11200
See related
Ensembl:ENSG00000124766 MIM:184430; Vega:OTTHUMG00000016101
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
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
Location:
6p22.3
Exon count:
1
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (21593741..21598619)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (21593972..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 (non-protein coding) Neighboring gene uncharacterized LOC105374970

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.
NHGRI GWA Catalog
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
NHGRI GWA Catalog
Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.
NHGRI GWA Catalog
  • Deactivation of the beta-catenin transactivating complex, organism-specific biosystem (from REACTOME)
    Deactivation of the beta-catenin transactivating complex, organism-specific biosystemThe mechanisms involved in downregulation of TCF-dependent transcription are not yet very well understood. beta-catenin is known to recruit a number of transcriptional repressors, including Reptin, S...
  • MicroRNAs in cancer, organism-specific biosystem (from KEGG)
    MicroRNAs in cancer, organism-specific biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
  • MicroRNAs in cancer, conserved biosystem (from KEGG)
    MicroRNAs in cancer, conserved biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Wnt, organism-specific biosystem (from REACTOME)
    Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
  • TCF dependent signaling in response to WNT, organism-specific biosystem (from REACTOME)
    TCF dependent signaling in response to WNT, organism-specific biosystem19 WNT ligands and 10 FZD receptors have been identified in human cells; interactions amongst these ligands and receptors vary in a developmental and tissue-specific manner and lead to activation of ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
DNA damage response, detection of DNA damage IDA
Inferred from Direct Assay
more info
PubMed 
DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest IMP
Inferred from Mutant Phenotype
more info
PubMed 
T cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
ascending aorta morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
atrial septum primum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
canonical Wnt signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac right ventricle morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac ventricle formation ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to glucose stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
endocrine pancreas development IEA
Inferred from Electronic Annotation
more info
 
glial cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
glial cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
glucose homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
kidney morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
limb bud formation ISS
Inferred from Sequence or Structural Similarity
more info
 
mitral valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell death ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein export from nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein ubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
neural tube formation ISS
Inferred from Sequence or Structural Similarity
more info
 
neuroepithelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
noradrenergic neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of N-terminal peptidyl-lysine acetylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of Wnt signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of canonical Wnt signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of insulin secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of translation IMP
Inferred from Mutant Phenotype
more info
PubMed 
pro-B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
protein stabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of protein stability IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
skeletal system development ISS
Inferred from Sequence or Structural Similarity
more info
 
somatic stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
 
spinal cord development ISS
Inferred from Sequence or Structural Similarity
more info
 
spinal cord motor neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
sympathetic nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
ventricular septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nuclear transcription factor complex IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
transcription factor SOX-4
Names
SRY (sex determining region Y)-box 4
SRY-related HMG-box gene 4
ecotropic viral integration site 16

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
    5001..9879
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003107.2NP_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, OTTHUMP00000017714, ENST00000244745.3, OTTHUMT00000043301
    Conserved Domains (1) summary
    cd01388
    Location:58129
    SOX-TCF_HMG-box; 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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

    Range
    21593741..21598619
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    21596072..21600948
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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