Format

Send to:

Choose Destination

SOX2 SRY-box 2 [ Homo sapiens (human) ]

Gene ID: 6657, updated on 26-May-2016
Official Symbol
SOX2provided by HGNC
Official Full Name
SRY-box 2provided by HGNC
Primary source
HGNC: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]
Orthologs
Location:
3q26.33
Exon count:
1
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (181711924..181714436)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (181429712..181432224)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene SOX2 overlapping transcript Neighboring gene uncharacterized LOC102724604 Neighboring gene ribosomal protein L7a pseudogene 25 Neighboring gene zinc finger CCHC domain-containing protein 10 pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 150

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Copy number response

Description
Copy number response
Triplosensitivity

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

ClinGen Genome Curation Page
Haploinsufficency

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

ClinGen 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.
  • 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...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • 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...
  • POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation, organism-specific biosystem (from REACTOME)
    POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation, organism-specific biosystemPOU5F1 (OCT4), SOX2, and NANOG bind elements in the promoters of target genes. The target genes of each transcription factor overlap extensively: POU5F1, SOX2, and NANOG co-occupy at least 353 genes ...
  • POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation, organism-specific biosystem (from REACTOME)
    POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation, organism-specific biosystemPOU5F1 (OCT4), SOX2, and NANOG bind elements in the promoters of target genes. The target genes of each transcription factor overlap extensively: POU5F1, SOX2, and NANOG co-occupy at least 353 genes ...
  • 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...
  • 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...
  • Signaling pathways regulating pluripotency of stem cells, organism-specific biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, organism-specific biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
  • Signaling pathways regulating pluripotency of stem cells, conserved biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, conserved biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
  • 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 ...
  • Transcriptional regulation of pluripotent stem cells, organism-specific biosystem (from REACTOME)
    Transcriptional regulation of pluripotent stem cells, organism-specific biosystemPluripotent stem cells are undifferentiated cells posessing an abbreviated cell cycle (reviewed in Stein et al. 2012), a characteristic profile of gene expression (Rao et al. 2004, Kim et al. 2006, P...
  • 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

Clone Names

  • MGC2413

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 
chromatin organization NAS
Non-traceable Author Statement
more info
PubMed 
endodermal cell fate specification IDA
Inferred from Direct Assay
more info
PubMed 
eye development IEP
Inferred from Expression Pattern
more info
PubMed 
forebrain development IEP
Inferred from Expression Pattern
more info
PubMed 
glial cell fate commitment NAS
Non-traceable Author Statement
more info
PubMed 
inner ear development IEP
Inferred from Expression Pattern
more info
PubMed 
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 transcription from RNA polymerase II promoter ISS
Inferred from Sequence or Structural Similarity
more info
 
neuronal stem cell population maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
osteoblast differentiation IDA
Inferred from Direct Assay
more info
PubMed 
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 cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell-cell adhesion 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 wounding IEP
Inferred from Expression Pattern
more info
PubMed 
somatic stem cell population maintenance IDA
Inferred from Direct Assay
more info
PubMed 
somatic stem cell population maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
somatic stem cell population maintenance TAS
Traceable Author Statement
more info
 
tissue regeneration IEA
Inferred from Electronic Annotation
more info
 
transcription from RNA polymerase II promoter 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 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
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
SRY (sex determining region Y)-box 2
SRY box 2
SRY-related HMG-box gene 2
sex determining region Y-box 2
transcription factor SOX2

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), LRG_719

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_003097.1

    Status: REVIEWED

    Source sequence(s)
    AC117415, BC013923, BF305585, CN430685, DA388996
    Consensus CDS
    CCDS3239.1
    UniProtKB/Swiss-Prot
    P48431
    UniProtKB/TrEMBL
    A0A0U3FYV6
    Related
    ENSP00000323588, OTTHUMP00000212684, ENST00000325404, OTTHUMT00000350419
    Conserved Domains (2) summary
    pfam12336
    Location:110200
    SOXp; SOX transcription factor
    cd01388
    Location:40111
    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 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

    Range
    181711924..181714436
    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)