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SOX2 SRY (sex determining region Y)-box 2 [ Homo sapiens (human) ]

Gene ID: 6657, updated on 21-Apr-2014
Official Symbol
SOX2provided by HGNC
Official Full Name
SRY (sex determining region Y)-box 2provided by HGNC
Primary source
HGNC:11195
See related
Ensembl:ENSG00000181449; HPRD:08921; MIM:184429; Vega:OTTHUMG00000158222
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
ANOP3; MCOPS3
Summary
This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq, Jul 2008]
Location :
3q26.3-q27
Sequence :
Chromosome: 3; NC_000003.12 (181711924..181714436)
See SOX2 in Epigenomics, MapViewer

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene SOX2 overlapping transcript (non-protein coding) Neighboring gene uncharacterized LOC102724604 Neighboring gene ribosomal protein L7a pseudogene 25 Neighboring gene zinc finger CCHC domain-containing protein 10-like Neighboring gene long intergenic non-protein coding RNA 1206

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-07-06)

ISCA Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-06)

ISCA Genome Curation PagePubMed
  • Cardiac Progenitor Differentiation, organism-specific biosystem (from WikiPathways)
    Cardiac Progenitor Differentiation, organism-specific biosystemFactors involved in the induction of cardiac differentiation in vitro and in vivo. This model was based on the below two review articles.
  • Hippo signaling pathway, organism-specific biosystem (from KEGG)
    Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Hippo signaling pathway, conserved biosystem (from KEGG)
    Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
    SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
  • Wnt Signaling Pathway and Pluripotency, organism-specific biosystem (from WikiPathways)
    Wnt Signaling Pathway and Pluripotency, organism-specific biosystemThis pathway was adapted from several resources and is designed to provide a theoretical frame-work for examining Wnt signaling and interacting components in the context of embryonic stem-cell plurip...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
adenohypophysis development IEA
Inferred from Electronic Annotation
more info
 
cell cycle arrest IDA
Inferred from Direct Assay
more info
PubMed 
cerebral cortex development IEA
Inferred from Electronic Annotation
more info
 
chromatin organization NAS
Non-traceable Author Statement
more info
PubMed 
detection of mechanical stimulus involved in equilibrioception IEA
Inferred from Electronic Annotation
more info
 
detection of mechanical stimulus involved in sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
diencephalon morphogenesis IEA
Inferred from Electronic Annotation
more info
 
endodermal cell fate specification IDA
Inferred from Direct Assay
more info
 
epithelial tube branching involved in lung morphogenesis IEA
Inferred from Electronic Annotation
more info
 
eye development IEP
Inferred from Expression Pattern
more info
PubMed 
forebrain development IEP
Inferred from Expression Pattern
more info
PubMed 
forebrain neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
glial cell fate commitment NAS
Non-traceable Author Statement
more info
PubMed 
inner ear development IEP
Inferred from Expression Pattern
more info
PubMed 
inner ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
lens induction in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
lung alveolus development IEA
Inferred from Electronic Annotation
more info
 
male genitalia development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of canonical Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of epithelial cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription from RNA polymerase II promoter ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron fate commitment IEA
Inferred from Electronic Annotation
more info
 
neuronal stem cell maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
olfactory placode formation IEA
Inferred from Electronic Annotation
more info
 
osteoblast differentiation IDA
Inferred from Direct Assay
more info
PubMed 
pigment biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
pituitary gland development IEP
Inferred from Expression Pattern
more info
PubMed 
positive regulation of MAPK cascade IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuroblast proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
response to growth factor IDA
Inferred from Direct Assay
more info
PubMed 
response to retinoic acid IEA
Inferred from Electronic Annotation
more info
 
response to wounding IEP
Inferred from Expression Pattern
more info
PubMed 
retina morphogenesis in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
somatic stem cell maintenance IDA
Inferred from Direct Assay
more info
PubMed 
somatic stem cell maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
tongue development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IC
Inferred by Curator
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 
transcription factor complex TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
transcription factor SOX-2
Names
transcription factor SOX-2
transcription factor SOX2
SRY-related HMG-box gene 2

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_009080.1 RefSeqGene

    Range
    4991..7503
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003106.3NP_003097.1  transcription factor SOX-2

    See proteins identical to NP_003097.1

    Status: REVIEWED

    Source sequence(s)
    AC117415, BC013923, BF305585, CN430685, DA388996
    Consensus CDS
    CCDS3239.1
    UniProtKB/Swiss-Prot
    P48431
    Related
    ENSP00000323588, OTTHUMP00000212684, ENST00000325404, OTTHUMT00000350419
    Conserved Domains (2) summary
    pfam12336
    Location:110200
    Blast Score: 216
    SOXp; SOX transcription factor
    cd01388
    Location:40111
    Blast Score: 332
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38 Primary Assembly

    Range
    181711924..181714436
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000135.1 Alternate HuRef

    Range
    178834536..178837048
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

    Range
    181392587..181395099
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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