SOX3 SRY-box transcription factor 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SOX3provided by HGNC
Official Full Name: SRY-box transcription factor 3provided by HGNC
Primary source: HGNC:HGNC:11199
See related: Ensembl:ENSG00000134595 MIM:313430; AllianceGenome:HGNC:11199
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: PHP; GHDX; MRGH; PHPX; SOXB
Summary: This 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. Mutations in this gene have been associated with X-linked cognitive disability with growth hormone deficiency. [provided by RefSeq, Jul 2008]
Orthologs: mouse all
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Genomic context

Location:: Xq27.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (140502985..140505069, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (138814872..138816956, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (139585150..139587234, complement)

Chromosome X - NC_000023.11 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?

ROR2 deficit may induce the tetralogy of Fallot via down-regulating of beta-catenin/SOX3/HSPA6 in vitro and in vivo.
Title: ROR2 deficit may induce the tetralogy of Fallot via down-regulating of β-catenin/SOX3/HSPA6 in vitro and in vivo.
A complex structural variant near SOX3 causes X-linked split-hand/foot malformation.
Title: A complex structural variant near SOX3 causes X-linked split-hand/foot malformation.
Transcription factor SOX3 upregulated pro-apoptotic genes expression in human breast cancer.
Title: Transcription factor SOX3 upregulated pro-apoptotic genes expression in human breast cancer.
A SOX3 duplication and lumbosacral spina bifida in three generations.
Title: A SOX3 duplication and lumbosacral spina bifida in three generations.
LINC00662 Promotes Proliferation and Invasion and Inhibits Apoptosis of Glioma Cells Through miR-483-3p/SOX3 Axis.
Title: LINC00662 Promotes Proliferation and Invasion and Inhibits Apoptosis of Glioma Cells Through miR-483-3p/SOX3 Axis.
Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.
Title: Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.
Serum proteome profiling reveals SOX3 as a candidate prognostic marker for gastric cancer.
Title: Serum proteome profiling reveals SOX3 as a candidate prognostic marker for gastric cancer.
Marked phenotypic variable expression among brothers with duplication of Xq27.1 involving the SOX3 gene.
Title: Marked phenotypic variable expression among brothers with duplication of Xq27.1 involving the SOX3 gene.
MiR-483 suppresses cell proliferation and promotes cell apoptosis by targeting SOX3 in breast cancer.
Title: MiR-483 suppresses cell proliferation and promotes cell apoptosis by targeting SOX3 in breast cancer.
SOX3 duplication is a genomic imbalance involved in the pathogenesis of neural tube defects.
Title: SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects.

Submit: New GeneRIF Correction See all GeneRIFs (47)

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
Intellectual disability, X-linked, with panhypopituitarism MedGen: C2678223 OMIM: 300123 GeneReviews: Not available	Compare labs
Panhypopituitarism, X-linked MedGen: C0342376 OMIM: 312000 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity Some evidence for dosage pathogenicity (Last evaluated 2023-01-10) ClinGen Genome Curation PagePubMed Haploinsufficency No evidence available (Last evaluated 2023-01-10) ClinGen Genome Curation Page

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

G42697 (e-PCR)
- UniSTS:140884

PMC24149P3 (e-PCR)
- UniSTS:272234

DXS1187 (e-PCR), detects polymorphism
- UniSTS:26250

Sox3 (e-PCR), detects polymorphism
- UniSTS:525722

NoName (e-PCR)
- UniSTS:483758

RH80867 (e-PCR)
- UniSTS:87740

SOX3_2438 (e-PCR)
- UniSTS:281026

NoName (e-PCR)
- UniSTS:481771

DXS737 (e-PCR)
- UniSTS:88559

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	TAS 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, 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 RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in brain development	IBA Inferred from Biological aspect of Ancestor more info
involved_in central nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in face development	ISS Inferred from Sequence or Structural Similarity more info
involved_in hypothalamus development	ISS Inferred from Sequence or Structural Similarity more info
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 neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in pituitary gland development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in sensory organ development	ISS Inferred from Sequence or Structural Similarity more info
involved_in sex determination	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment 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

General protein information

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Preferred Names: transcription factor SOX-3

Names: SRY (sex determining region Y)-box 3; SRY-box 3

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_009387.1 RefSeqGene

Range

4992..7076

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005634.3 → NP_005625.2 transcription factor SOX-3

See identical proteins and their annotated locations for NP_005625.2

Status: REVIEWED

Source sequence(s)

AL121875

Consensus CDS

CCDS14669.1

UniProtKB/Swiss-Prot

P35714, P41225, Q5JWI3, Q9NP49

Related

ENSP00000359567.2, ENST00000370536.5

Conserved Domains (2) summary

cd01388
Location:138 → 209

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 ...

pfam12336
Location:208 → 302

SOXp; SOX transcription factor