SOX9 (SRY-box transcription factor 9)

2007-02-01  

Identity

HGNC
SOX9
LOCATION
17q24.3
LOCUSID
6662
ALIAS
CMD1,CMPD1,SRA1,SRXX2,SRXY10

Other Information

Locus ID:

NCBI: 6662
MIM: 608160
HGNC: 11204
Ensembl: ENSG00000125398

Variants:

dbSNP: 6662
ClinVar: 6662
TCGA: ENSG00000125398
COSMIC: SOX9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125398ENST00000245479P48436

Expression (GTEx)

0
50
100
150
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
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
124147342002The transcription factor Sox9 has essential roles in successive steps of the chondrocyte differentiation pathway and is required for expression of Sox5 and Sox6.514
223859652012Slug and Sox9 cooperatively determine the mammary stem cell state.376
152405682004SOX9 is an intestine crypt transcription factor, is regulated by the Wnt pathway, and represses the CDX2 and MUC2 genes.172
192344732009Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.122
156235062005Smad3 induces chondrogenesis through the activation of SOX9 via CREB-binding protein/p300 recruitment.98
249066222014Hippo coactivator YAP1 upregulates SOX9 and endows esophageal cancer cells with stem-like properties.85
222466702012Oncogenicity of the developmental transcription factor Sox9.84
183398402008SOX9 is expressed in human fetal prostate epithelium and enhances prostate cancer invasion.78
127326312003Transcriptional co-activators CREB-binding protein and p300 regulate chondrocyte-specific gene expression via association with Sox9.76
201036522010SOX9 elevation in the prostate promotes proliferation and cooperates with PTEN loss to drive tumor formation.65

Citation

Dessen P

SOX9 (SRY-box transcription factor 9)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43993/sox9