SERPIN Family B, Member 8

Alternative Names

  • SERPINB8
  • SERPIN Peptidase Inhibitor, Clade B (Ovalbumin), Member 8
  • Protease Inhibitor 8
  • PI8
  • Cytoplasmic Antiproteinase 2
  • CAP2

Associated Diseases

Peeling Skin Syndrome 5
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OMIM Number

601697

NCBI Gene ID

5271

Uniprot ID

P50452

Length

49,752 bases

No. of Exons

10

No. of isoforms

3

Protein Name

Serpin B8

Molecular Mass

42767 Da

Amino Acid Count

374

Genomic Location

chr18:63,970,028-64,019,779

Gene Map Locus
18q22.1

Description

The SERPINB8 gene encodes a protein belonging to the high molecular weight serine proteinase inhibitor (SERPIN) superfamily. Members of this family contain a highly-conserved surface-exposed reactive site loop (RSL), which interacts with the target protease to form tight, irreversible complexes. In addition to the RSL, the SERPINB8 protein contains two hydrophobic regions in close proximity to the N terminus, believed to be important for secretion and allowing SERPINB8 to reside either intracellularly or extracellularly.

SERPINs are responsible for a diverse set of intracellular and extracellular functions including cellular differentiation, tumor suppression, apoptosis, and cell migration. While the specific function of SERPINB8 has not been fully characterized, recent knockdown studies in human keratinocytes have shown that in the absence of SERPINB8, there is a cell-cell adhesion defect, which is heightened by mechanical stress. The gene has thus been implicated in Peeling Skin Syndrome 5 (PSS5), a genodermatosis characterized by superficial peeling of the dorsal and palmar skin of the hands and feet.

Molecular Genetics

The gene is located on the long arm of chromosome 8 and spans a length of 49.8 kb of DNA. Its coding sequence is spread across 11 exons and it encodes a 42.7 kDa protein product composed of 374 amino acids. Several additional isoforms of the SERPINB8 gene exist due to alternatively spliced transcript variants. The gene is overexpressed in the skin, monocytes, peripheral blood mononuclear cells and platelets. So far only 3 mutations in the SERPINB8 gene have been associated with PSS5. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_002640.4:c.2T>CUnited Arab Emirateschr18:63978310PathogenicPathogenicPeeling Skin Syndrome 5NG_052876.1:g.13283T>C; NM_002640.4:c.2T>C; NP_942130.1:p.Met1Thr374612640254199
NM_002640.4:c.947delTunisiachr18:63987100PathogenicPathogenicPeeling Skin Syndrome 5NG_052876.1:g.22073del; NM_002640.4:c.947del; NP_942130.1:p.Lys316fs762923677254198
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