Homo sapiens Gene: SOX3
Summary
InnateDB Gene IDBG-88050.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SOX3
Gene Name SRY (sex determining region Y)-box 3
Synonyms GHDX; MRGH; PHP; PHPX; SOXB;
Species Homo sapiens
Ensembl Gene ENSG00000134595
Encoded Proteins
SRY (sex determining region Y)-box 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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 mental retardation with growth hormone deficiency. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome X:140502987-140505503
Strand Reverse strand
Band q27.1
Transcripts
ENST00000370536 ENSP00000359567
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 1 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding
GO:0001106 RNA polymerase II transcription corepressor activity
GO:0003677 DNA binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0007417 central nervous system development
GO:0007423 sensory organ development
GO:0007530 sex determination
GO:0009887 organ morphogenesis
GO:0021854 hypothalamus development
GO:0021983 pituitary gland development
GO:0030900 forebrain development
GO:0045665 negative regulation of neuron differentiation
GO:0048515 spermatid differentiation
GO:0060009 Sertoli cell development
GO:0060324 face development
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Method
Confidence
Comments
Low
Tentative data, uncurated. RBBH derived.
Cross-References
SwissProt P41225
TrEMBL
UniProt Splice Variant
Entrez Gene 6658
UniGene Hs.157429
RefSeq NM_005634
HUGO HGNC:11199
OMIM 313430
CCDS CCDS14669
HPRD 02432
IMGT
EMBL AF264713 AL121875 BC093863 BC093865 X65665 X71135
GenPept AAF73059 AAH93863 AAH93865 CAA46616 CAA50465 CAB87584
RNA Seq Atlas 6658