SOX6
Summary: This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| SRY-box 6 | MIM:607257 | Ensembl:ENSG00000110693 | HGNC:HGNC:16421 | PA38137 | 11p15.2 |
GO terms in SOX6
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0005634 | nucleus |
| CC | NAS | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| BP | IEA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0000902 | cell morphogenesis |
| BP | IEA | GO:0001701 | in utero embryonic development |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | NAS | GO:0006355 | regulation of transcription, DNA-templated |
| BP | IBA | GO:0007399 | nervous system development |
| BP | IBA | GO:0007417 | central nervous system development |
| BP | NAS | GO:0007517 | muscle organ development |
| BP | IEA | GO:0009791 | post-embryonic development |
| BP | IEA | GO:0016458 | gene silencing |
| BP | IEA | GO:0021778 | oligodendrocyte cell fate specification |
| BP | IBA | GO:0032332 | positive regulation of chondrocyte differentiation |
| BP | IDA | GO:0032332 | positive regulation of chondrocyte differentiation |
| BP | IBA | GO:0045165 | cell fate commitment |
| BP | IBA | GO:0045892 | negative regulation of transcription, DNA-templated |
| BP | IBA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0048708 | astrocyte differentiation |
| BP | IEA | GO:0048821 | erythrocyte development |
| BP | IEA | GO:0051216 | cartilage development |
| BP | IEA | GO:0055007 | cardiac muscle cell differentiation |
| BP | IDA | GO:0061036 | positive regulation of cartilage development |
| BP | IDA | GO:0071560 | cellular response to transforming growth factor beta stimulus |
| BP | IMP | GO:2000726 | negative regulation of cardiac muscle cell differentiation |
| BP | IDA | GO:2000741 | positive regulation of mesenchymal stem cell differentiation |
| MF | IEA | 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 | IEA | GO:0001078 | transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | NAS | GO:0003677 | DNA binding |
| MF | NAS | GO:0003700 | DNA-binding transcription factor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0046982 | protein heterodimerization activity |
Gene expression in normal tissue: SOX6
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SOX6
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP3413 | NOTCH1 regulation of human endothelial cell calcification |
| wikipathways | WP474 | Endochondral Ossification |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-195721 | Signaling by WNT |
| reactome | R-HSA-201681 | TCF dependent signaling in response to WNT |
| reactome | R-HSA-3769402 | Deactivation of the beta-catenin transactivating complex |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SOX6
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