Entity Details

Primary name SERPINB6
Entity type gene
Source Source Link

Details

PrimaryID5269
RefseqGeneNG_027692
SymbolSERPINB6
Nameserpin family B member 6
Chromosome6
Location6p25.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-11-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsSPB6_HUMAN

GO terms

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GOName
GO:0002020 protease binding
GO:0004867 serine-type endopeptidase inhibitor activity
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0007605 sensory perception of sound
GO:0010951 negative regulation of endopeptidase activity
GO:0030667 secretory granule membrane
GO:0043312 neutrophil degranulation
GO:0062023 collagen-containing extracellular matrix
GO:0070062 extracellular exosome
GO:0070821 tertiary granule membrane
GO:0071470 cellular response to osmotic stress
GO:0097180 serine protease inhibitor complex
GO:0101003 ficolin-1-rich granule membrane

Diseases

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Disease IDSourceNameDescription
613453 OMIMDeafness, autosomal recessive, 91 (DFNB91)A form of non-syndromic deafness characterized by progressive and age-dependent sensorineural hearing loss. Vestibular function is normal. The disease is caused by variants affecting the gene represented in this entry.