SERPINB6
Summary: The protein encoded by this gene is a member of the serpin (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental thrombin inhibitor. The mouse homolog was found to be expressed in the hair cells of the inner ear. Mutations in this gene are associated with nonsyndromic progressive hearing loss, suggesting that this serpin plays an important role in the inner ear in the protection against leakage of lysosomal content during stress, and that loss of this protection results in cell death and sensorineural hearing loss. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:173321 Ensembl IDEnsembl:ENSG00000124570 HGNC IDHGNC:HGNC:8950 PHARMGKB IDPA35516 Map Location6p25.2 | |||||
GO terms in SERPINB6
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0002020 | protease binding |
| MF | IBA | GO:0004867 | serine-type endopeptidase inhibitor activity |
| MF | IDA | GO:0004867 | serine-type endopeptidase inhibitor activity |
| CC | HDA | GO:0005576 | extracellular region |
| CC | IBA | GO:0005615 | extracellular space |
| CC | IDA | GO:0005634 | nucleus |
Gene expression in normal tissue: SERPINB6
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SERPINB6
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-109582 | Hemostasis |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-6798695 | Neutrophil degranulation |
| reactome | R-HSA-75205 | Dissolution of Fibrin Clot |
| wikipathways | WP2858 | Ectoderm Differentiation |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SERPINB6
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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