SOX3 (SRY-box transcription factor 3)

2014-09-01  

Identity

HGNC
SOX3
LOCATION
Xq27.1
LOCUSID
6658
ALIAS
GHDX,MRGH,PHP,PHPX,SOXB
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134595ENST00000370536P41225

Expression (GTEx)

0
1
2
3
4
5
6
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

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by WntREACTOMER-HSA-195721
TCF dependent signaling in response to WNTREACTOMER-HSA-201681
Deactivation of the beta-catenin transactivating complexREACTOMER-HSA-3769402

References

Pubmed IDYearTitleCitations
389277132024Clinical Correlation of Transcription Factor SOX3 in Cancer: Unveiling Its Role in Tumorigenesis.0
389277132024Clinical Correlation of Transcription Factor SOX3 in Cancer: Unveiling Its Role in Tumorigenesis.0
372160082023A complex structural variant near SOX3 causes X-linked split-hand/foot malformation.0
377499172023ROR2 deficit may induce the tetralogy of Fallot via down-regulating of β-catenin/SOX3/HSPA6 in vitro and in vivo.1
372160082023A complex structural variant near SOX3 causes X-linked split-hand/foot malformation.0
377499172023ROR2 deficit may induce the tetralogy of Fallot via down-regulating of β-catenin/SOX3/HSPA6 in vitro and in vivo.1
350986502022A SOX3 duplication and lumbosacral spina bifida in three generations.1
352753552022LINC00662 Promotes Proliferation and Invasion and Inhibits Apoptosis of Glioma Cells Through miR-483-3p/SOX3 Axis.3
361756952022Transcription factor SOX3 upregulated pro-apoptotic genes expression in human breast cancer.2
350986502022A SOX3 duplication and lumbosacral spina bifida in three generations.1
352753552022LINC00662 Promotes Proliferation and Invasion and Inhibits Apoptosis of Glioma Cells Through miR-483-3p/SOX3 Axis.3
361756952022Transcription factor SOX3 upregulated pro-apoptotic genes expression in human breast cancer.2
344403022021Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.0
344403022021Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.0
263520832020Marked phenotypic variable expression among brothers with duplication of Xq27.1 involving the SOX3 gene.2

Citation

Dessen P

SOX3 (SRY-box transcription factor 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-09-01

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