SOX9

Summary: The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
NameSRY-box 9
OMIM IDMIM:608160
Ensembl IDEnsembl:ENSG00000125398
HGNC IDHGNC:HGNC:11204
PHARMGKB IDPA36041
Map Location17q24.3

GO terms in SOX9


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Term Type
Evidence Type
GO Term ID
GO Des.
MF IDA GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding
MF ISA GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
MF ISM GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
MF NAS GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
MF IDA GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding
MF ISS GO:0001158 enhancer sequence-specific DNA binding
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Gene expression in normal tissue: SOX9

Gene-model tissue-cancer distribution: Bubble Plot

undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 5KIDNEtissue: KIDNE cancer: KIDNEY model num: 0KIDNEYtissue: KIDNEY cancer: Renal Clear Cell Carcinoma (CCRCC) model num: 2

Gene-drug pathway distribution

Other, kinases2undefined2JNK and p38 signaling1Bile secretion1Apoptosis regulation1

Pathways in SOX9


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Database
Pathway ID
Pathway Des.
netpath Pathway_TGF_beta_Receptor TGF_beta_Receptor
kegg hsa04024 cAMP signaling pathway - Homo sapiens (human)
wikipathways WP2064 Neural Crest Differentiation
wikipathways WP2431 Spinal Cord Injury
wikipathways WP474 Endochondral Ossification
wikipathways WP98 Prostaglandin Synthesis and Regulation
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD392 Masitinib 1
iGMDRD1034 WZ3105 1
iGMDRD21 Fluorouracil 1
iGMDRD568 SCHEMBL15005512 1
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in SOX9

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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