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 |
|---|---|---|---|---|---|
| serpin family B member 6 | MIM:173321 | Ensembl:ENSG00000124570 | HGNC:HGNC:8950 | PA35516 | 6p25.2 |
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 |
| CC | IBA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005829 | cytosol |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | TAS | GO:0030667 | secretory granule membrane |
| CC | HDA | GO:0070062 | extracellular exosome |
| CC | TAS | GO:0070821 | tertiary granule membrane |
| CC | IDA | GO:0097180 | serine protease inhibitor complex |
| CC | TAS | GO:0101003 | ficolin-1-rich granule membrane |
| BP | IMP | GO:0007605 | sensory perception of sound |
| BP | IBA | GO:0010951 | negative regulation of endopeptidase activity |
| BP | IDA | GO:0010951 | negative regulation of endopeptidase activity |
| BP | TAS | GO:0043312 | neutrophil degranulation |
| BP | IMP | GO:0071470 | cellular response to osmotic stress |
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 |
| kegg | hsa05146 | Amoebiasis - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SERPINB6
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