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Gene: SOX3 (SRY-box transcription factor 3) Homo sapiens
Symbol: SOX3
Name: SRY-box transcription factor 3
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: GHDX; MRGH; panhypopituitarism; PHP; PHPX; SOXB; SRY (sex determining region Y)-box 3; SRY box 3; SRY-box 3; transcription factor SOX-3
Mus musculus (house mouse) : Sox3 (SRY (sex determining region Y)-box 3)  MGI  Alliance
Rattus norvegicus (Norway rat) : Sox3 (SRY-box transcription factor 3)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Sox3 (SRY-box transcription factor 3)
Canis lupus familiaris (dog) : SOX3 (SRY-box transcription factor 3)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Sox3 (SRY-box transcription factor 3)
Sus scrofa (pig) : SOX3 (SRY-box transcription factor 3)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38X140,502,987 - 140,505,060 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X139,585,152 - 139,587,225 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X139,412,818 - 139,414,891 (-)NCBINCBI36hg18NCBI36
Build 34X139,310,671 - 139,312,745NCBI
CeleraX139,957,265 - 139,959,338 (-)NCBI
Cytogenetic MapXq27.1NCBI
HuRefX128,852,437 - 128,854,510 (-)NCBIHuRef
CHM1_1X139,496,277 - 139,498,350 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on SOX3
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1347884
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-06-18
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.