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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
serpin family B member 6MIM:173321Ensembl:ENSG00000124570HGNC:HGNC:8950PA355166p25.2

GO terms in SERPINB6


Term TypeEvidence TypeGO Term IDGO Des.
MFIPIGO:0002020protease binding
MFIBAGO:0004867serine-type endopeptidase inhibitor activity
MFIDAGO:0004867serine-type endopeptidase inhibitor activity
CCHDAGO:0005576extracellular region
CCIBAGO:0005615extracellular space
CCIDAGO:0005634nucleus
CCIBAGO:0005737cytoplasm
CCIDAGO:0005737cytoplasm
CCTASGO:0005829cytosol
CCTASGO:0005886plasma membrane
CCTASGO:0030667secretory granule membrane
CCHDAGO:0070062extracellular exosome
CCTASGO:0070821tertiary granule membrane
CCIDAGO:0097180serine protease inhibitor complex
CCTASGO:0101003ficolin-1-rich granule membrane
BPIMPGO:0007605sensory perception of sound
BPIBAGO:0010951negative regulation of endopeptidase activity
BPIDAGO:0010951negative regulation of endopeptidase activity
BPTASGO:0043312neutrophil degranulation
BPIMPGO:0071470cellular response to osmotic stress

Gene expression in normal tissue: SERPINB6

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in SERPINB6


DatabasePathway IDPathway Des.
reactomeR-HSA-109582Hemostasis
reactomeR-HSA-168249Innate Immune System
reactomeR-HSA-168256Immune System
reactomeR-HSA-6798695Neutrophil degranulation
reactomeR-HSA-75205Dissolution of Fibrin Clot
wikipathwaysWP2858Ectoderm Differentiation
kegghsa05146Amoebiasis - Homo sapiens (human)

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD30917AAG1
iGMDRD353PD03259012

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in SERPINB6

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