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

Gene ID: 6657, updated on 23-Oct-2021

Summary

Official Symbol
SOX2provided by HGNC
Official Full Name
SRY-box transcription factor 2provided by HGNC
Primary source
HGNC:HGNC:11195
See related
Ensembl:ENSG00000181449 MIM:184429
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
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Genomic context

See SOX2 in Genome Data Viewer
Location:
3q26.33
Exon count:
1
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (181711925..181714436)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (181429713..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 SOX2 5' regulatory region Neighboring gene SRR2 enhancer downstream of SOX2 Neighboring gene RNA, 7SL, cytoplasmic 703, pseudogene

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Anophthalmia/microphthalmia-esophageal atresia syndrome
MedGen: C1859773 OMIM: 206900 GeneReviews: SOX2 Disorder
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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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC2413

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in adenohypophysis development IEA
Inferred from Electronic Annotation
more info
 
involved_in anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell fate commitment IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in chromatin organization NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within endodermal cell fate specification IDA
Inferred from Direct Assay
more info
PubMed 
involved_in eye development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in forebrain development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in forebrain development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in glial cell fate commitment NAS
Non-traceable Author Statement
more info
PubMed 
involved_in inner ear development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in inner ear development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in negative regulation of canonical Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of epithelial cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neuronal stem cell population maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in osteoblast differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in pituitary gland development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in positive regulation of MAPK cascade IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within 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 IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of gene expression 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 regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
involved_in response to growth factor IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to wounding IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in somatic stem cell population maintenance IDA
Inferred from Direct Assay
more info
PubMed 
involved_in somatic stem cell population maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in tissue regeneration IEA
Inferred from Electronic Annotation
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 cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IC
Inferred by Curator
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus NAS
Non-traceable Author Statement
more info
PubMed 
part_of transcription regulator complex TAS
Traceable Author Statement
more info
PubMed 

General protein information

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

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_009080.1 RefSeqGene

    Range
    4991..7503
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_719

mRNA and Protein(s)

  1. NM_003106.4NP_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
    ENSP00000323588.1, ENST00000325404.3
    Conserved Domains (2) summary
    cd01388
    Location:40111
    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 ...
    pfam12336
    Location:110200
    SOXp; SOX transcription factor

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_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    181711925..181714436
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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