Entity Details

Primary name SERPINB7
Entity type gene
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Details

PrimaryID8710
RefseqGeneNG_034150
SymbolSERPINB7
Nameserpin family B member 7
Chromosome18
Location18q21.33
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-11-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsSPB7_HUMAN

GO terms

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GOName
GO:0004867 serine-type endopeptidase inhibitor activity
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0010951 negative regulation of endopeptidase activity
GO:0032914 positive regulation of transforming growth factor beta1 production
GO:0032967 positive regulation of collagen biosynthetic process
GO:0072126 positive regulation of glomerular mesangial cell proliferation
GO:0090362 positive regulation of platelet-derived growth factor production

Diseases

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Disease IDSourceNameDescription
615598 OMIMKeratoderma, palmoplantar, Nagashima type (PPKN)An autosomal recessive, non-syndromic, diffuse palmoplantar keratosis characterized by well-demarcated diffuse erythematous hyperkeratosis expanding onto the dorsal surfaces of the palms and feet and the Achilles tendon area. Hyperkeratosis is mild and non-progressive. The disease is caused by variants affecting the gene represented in this entry.

Interactions

12 interactions