SOX3 (SRY-box transcription factor 3)

2014-09-01 Affiliation

Identity

HGNC

SOX3

LOCATION

Xq27.1

LOCUSID

6658

ALIAS

GHDX,MRGH,PHP,PHPX,SOXB

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 6658
MIM: 313430
HGNC: 11199
Ensembl: ENSG00000134595

Variants:

dbSNP: 6658
ClinVar: 6658
TCGA: ENSG00000134595
COSMIC: SOX3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000134595	ENST00000370536	P41225

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Signal Transduction	REACTOME	R-HSA-162582
Signaling by Wnt	REACTOME	R-HSA-195721
TCF dependent signaling in response to WNT	REACTOME	R-HSA-201681
Deactivation of the beta-catenin transactivating complex	REACTOME	R-HSA-3769402

References

Pubmed ID	Year	Title	Citations
21183788	2011	Identification of SOX3 as an XX male sex reversal gene in mice and humans.	59
12428212	2002	Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.	43
15800844	2005	Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.	38
23211052	2013	Characterization of mesenchymal stem cell subpopulations from human amniotic membrane with dissimilar osteoblastic potential.	24
17587179	2007	Genetics of septo-optic dysplasia.	21
25351776	2015	Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.	18
15342697	2004	Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3.	17
21636067	2011	X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3.	17
19799567	2009	PBX1 and MEIS1 up-regulate SOX3 gene expression by direct interaction with a consensus binding site within the basal promoter region.	15
15788563	2005	SUMO represses transcriptional activity of the Drosophila SoxNeuro and human Sox3 central nervous system-specific transcription factors.	14

Citation

Dessen P

SOX3 (SRY-box transcription factor 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-09-01

Online version: http://atlasgeneticsoncology.org/gene/54895/sox3