InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SOX3

Summary

InnateDB Protein

IDBP-88052.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SOX3

Protein Name

SRY (sex determining region Y)-box 3

Synonyms

GHDX; MRGH; PHP; PHPX; SOXB;

Species

Homo sapiens

Ensembl Protein

ENSP00000359567

InnateDB Gene

IDBG-88050 (SOX3)

Protein Structure

UniProt Annotation

Function

Transcription factor required during the formation of the hypothalamo-pituitary axis. May function as a switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation. Required also within the pharyngeal epithelia for craniofacial morphogenesis. Controls a genetic switch in male development. Is necessary for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (By similarity). {ECO:0000250}.

Subcellular Localization

Nucleus.

Disease Associations

Panhypopituitarism X-linked (PHPX) [MIM:312000]: Affected individuals have absent infundibulum, anterior pituitary hypoplasia, and ectopic posterior pituitary. {ECO:0000269PubMed:15800844}. Note=The disease is caused by mutations affecting the gene represented in this entry.Mental retardation, X-linked, with isolated growth hormone deficiency (MRXGH) [MIM:300123]: A disorder characterized by the association of variable degrees of mental retardation with panhypopituitarism, variable combinations of hypothyroidism, delayed pubertal development, and short stature due to growth hormone deficiency. {ECO:0000269PubMed:12428212}. Note=The disease is caused by mutations affecting the gene represented in this entry.46,XX sex reversal 3 (SRXX3) [MIM:300833]: A condition in which male gonads develop in a genetic female (female to male sex reversal). {ECO:0000269PubMed:21183788}. Note=The disease is caused by mutations affecting the gene represented in this entry. Copy number variations (CNV) encompassing or in close proximity to SOX3 are responsible for XX male reversal. These variations include two duplications of approximately 123 kb and 85 kb, the former of which spans the entire SOX3 gene; a 343 kb deletion immediately upstream of SOX3 that is probably responsible of altered regulation (and not increased dosage) of SOX3; a large (approximately 6 Mb) duplication that encompasses SOX3 and at least 18 additional distally located genes. Its proximal breakpoint falls within the SOX3 regulatory region. This large rearrangement has been found in a patient with XX male reversal and a complex phenotype that also includes a scrotal hypoplasia, microcephaly, developmental delay, and growth retardation.

Tissue Specificity

Comments

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