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

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; AllianceGenome:HGNC:11195
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: mouse all
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Genomic context

Location:: 3q26.33

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (181711925..181714436)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (184516501..184519012)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (181429713..181432224)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The tale of SOX2: Focusing on lncRNA regulation in cancer progression and therapy.
Title: The tale of SOX2: Focusing on lncRNA regulation in cancer progression and therapy.
STIM1/SOX2 proteins are co-expressed in the tumor and microenvironmental stromal cells of pancreatic ductal adenocarcinoma and ampullary carcinoma.
Title: STIM1/SOX2 proteins are co-expressed in the tumor and microenvironmental stromal cells of pancreatic ductal adenocarcinoma and ampullary carcinoma.
LncRNA linc01194 promotes the progress of endometrial carcinoma by up-regulating SOX2 through binding to IGF2BP1.
Title: LncRNA linc01194 promotes the progress of endometrial carcinoma by up-regulating SOX2 through binding to IGF2BP1.
DNA binding redistributes activation domain ensemble and accessibility in pioneer factor Sox2.
Title: DNA binding redistributes activation domain ensemble and accessibility in pioneer factor Sox2.
CHD7 and SOX2 act in a common gene regulatory network during mammalian semicircular canal and cochlear development.
Title: CHD7 and SOX2 act in a common gene regulatory network during mammalian semicircular canal and cochlear development.
SOX2 Expression Does Not Guarantee Cancer Stem Cell-like Characteristics in Lung Adenocarcinoma.
Title: SOX2 Expression Does Not Guarantee Cancer Stem Cell-like Characteristics in Lung Adenocarcinoma.
SOX2 promotes a cancer stem cell-like phenotype and local spreading in oral squamous cell carcinoma.
Title: SOX2 promotes a cancer stem cell-like phenotype and local spreading in oral squamous cell carcinoma.
Molecular basis for SOX2-dependent regulation of super-enhancer activity.
Title: Molecular basis for SOX2-dependent regulation of super-enhancer activity.
SOX2 promotes vasculogenic mimicry by accelerating glycolysis via the lncRNA AC005392.2-GLUT1 axis in colorectal cancer.
Title: SOX2 promotes vasculogenic mimicry by accelerating glycolysis via the lncRNA AC005392.2-GLUT1 axis in colorectal cancer.
Expression and Functional Analysis of core stemness factors OSKM (OCT4, SOX2, KLF4, and MYC) in Pan-cancer.
Title: Expression and Functional Analysis of core stemness factors OSKM (OCT4, SOX2, KLF4, and MYC) in Pan-cancer.

Submit: New GeneRIF Correction See all GeneRIFs (749)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66812 (e-PCR)
- UniSTS:87360

Sox2 (e-PCR), detects polymorphism
- UniSTS:474706

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	NAS Non-traceable Author Statement more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	NAS Non-traceable Author Statement 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
enables miRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in adenohypophysis development	IEA Inferred from Electronic Annotation more info
involved_in brain development	IBA Inferred from Biological aspect of Ancestor more info
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
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
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 cell cycle G1/S phase transition	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
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron differentiation	IBA Inferred from Biological aspect of Ancestor 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 DNA-templated transcription	IDA Inferred from Direct Assay 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
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 regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	NAS Non-traceable Author Statement 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 myofibroblast cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in response to growth factor	IDA Inferred from Direct Assay more info	PubMed
involved_in response to oxygen-glucose deprivation	IEA Inferred from Electronic Annotation more info
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
part_of 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 nuclear speck	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor 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

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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

NG_009080.1 RefSeqGene

Range

4991..7503

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_719

mRNA and Protein(s)

NM_003106.4 → NP_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, Q14537

UniProtKB/TrEMBL

A0A0U3FYV6, B2R6J0

Related

ENSP00000323588.1, ENST00000325404.3

Conserved Domains (2) summary

cd01388
Location:40 → 111

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:110 → 200

SOXp; SOX transcription factor