Version 5.4
Homo sapiens Gene: SOX8
Summary
InnateDB Gene IDBG-8450.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SOX8
Gene Name SRY (sex determining region Y)-box 8
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000005513
Encoded Proteins
IDBP-8452
SRY (sex determining region Y)-box 8
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 activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the mental retardation found in haemoglobin H-related mental retardation (ART-16 syndrome). [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:981808-986979
Strand Forward strand
Band p13.3
Transcripts
ENST00000293894 ENSP00000293894
ENST00000566034
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
Experimentally validated
Total 7 [view]
Protein-Protein 7 [view]
Protein-DNA 0
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:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0043565 sequence-specific DNA binding
GO:0046982 protein heterodimerization activity
Biological Process
GO:0001649 osteoblast differentiation
GO:0001701 in utero embryonic development
GO:0001755 neural crest cell migration
GO:0006351 transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007165 signal transduction
GO:0007283 spermatogenesis
GO:0007422 peripheral nervous system development
GO:0008584 male gonad development
GO:0010628 positive regulation of gene expression
GO:0010817 regulation of hormone levels
GO:0014015 positive regulation of gliogenesis
GO:0033690 positive regulation of osteoblast proliferation
GO:0035914 skeletal muscle cell differentiation
GO:0043066 negative regulation of apoptotic process
GO:0045165 cell fate commitment
GO:0045444 fat cell differentiation
GO:0045662 negative regulation of myoblast differentiation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046533 negative regulation of photoreceptor cell differentiation
GO:0048469 cell maturation
GO:0048484 enteric nervous system development
GO:0048709 oligodendrocyte differentiation
GO:0060009 Sertoli cell development
GO:0060018 astrocyte fate commitment
GO:0060041 retina development in camera-type eye
GO:0060221 retinal rod cell differentiation
GO:0060612 adipose tissue development
GO:0061138 morphogenesis of a branching epithelium
GO:0072034 renal vesicle induction
GO:0072197 ureter morphogenesis
GO:0072289 metanephric nephron tubule formation
GO:0090184 positive regulation of kidney development
GO:0090190 positive regulation of branching involved in ureteric bud morphogenesis
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0044798 nuclear transcription factor complex
Orthologs
No orthologs found for this gene
Cross-References
SwissProt P57073
TrEMBL
UniProt Splice Variant
Entrez Gene 30812
UniGene Hs.243678
RefSeq NM_014587
HUGO HGNC:11203
OMIM 605923
CCDS CCDS10428
HPRD
IMGT
EMBL AE006465 AF164104 AF226675 BC031797 Z99757
GenPept AAF35886 AAF37424 AAH31797 AAK61260 CAB75612
RNA Seq Atlas 30812

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca