SERPINB8 - serpin family B member 8 Gene

Also Known as PI8; CAP2; PI-8; PSS5; C18orf53

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5271

About SERPINB8

Cytogenetic location: 18q22.1 Genomic coordinates (GRCh38): 18:63,970,081-64,019,779 (from NCBI)

This gene has 9 transcripts (splice variants), 410 orthologues, 36 paralogues and is associated with 2 phenotypes. Ubiquitous expression in skin (RPKM 7.4), gall bladder (RPKM 5.8) and 23 other tissues.

Summary

The protein encoded by this gene is a member of the ov-serpin family of serine Protease Inhibitors. The encoded protein is produced by platelets and can bind to and inhibit the function of Furin, a serine protease involved in platelet functions. In addition, this protein has been found to enhance the mechanical stability of cell-cell adhesion in the skin, and defects in this gene have been associated with an autosomal-recessive form of exfoliative ichthyosis. [provided by RefSeq, Jan 2017]

SERPINB8 Products (9)

mRNA Protein Name
NM_001031848.2 NP_001027018.1 serpin B8 isoform b
NM_001276490.2 NP_001263419.1 serpin B8 isoform c
NM_001348367.2 NP_001335296.1 serpin B8 isoform d
NM_001348368.2 NP_001335297.1 serpin B8 isoform e
NM_001348369.2 NP_001335298.1 serpin B8 isoform e
NM_001348370.2 NP_001335299.1 serpin B8 isoform f
NM_001366198.1 NP_001353127.1 serpin B8 isoform a
NM_002640.4 NP_002631.3 serpin B8 isoform a
NM_198833.2 NP_942130.1 serpin B8 isoform a

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
8530382 GOA
enables serine-type endopeptidase inhibitor activity IDA
IDA: Inferred from direct assay
8530382 GOA
Biological Process GO Annotation Evidence References Source
involved in epithelial cell-cell adhesion IMP
IMP: Inferred from mutant phenotype
27476651 GOA
involved in negative regulation of endopeptidase activity IDA
IDA: Inferred from direct assay
8530382 GOA
Cellular Component GO Annotation Evidence References Source
located in cytosol IDA
IDA: Inferred from direct assay
8530382 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SERPINB8 Protein Structure

Serpin

Serpin: Serpin (serine protease inhibitor) (7 - 374)

  • 0
  • 100
  • 200
  • 300
  • 374 a.a.
Protein Preferred Names Protein Names

serpin B8

  • cytoplasmic antiproteinase 2

Related Diseases

Diseases Alias
Peeling Skin Syndrome 5

  • PSS5
Exfoliative Ichthyosis

  • Ichthyosis Exfoliativa

  • Autosomal Recessive Exfoliative Ichthyosis
Peeling Skin Syndrome

  • Deciduous Skin

  • Familial Continuous Skin Peeling Syndrome

  • Idiopathic Deciduous Skin

  • Keratosis Exfoliativa Congenita

  • Pss

  • Peeling Skin Disease

  • Skin Peeling Syndrome

  • Familial Continuous Skin Peeling

  • Keratolysis Exfoliativa Congenita

  • Exfoliation Syndrome

  • Keratolysis Exfoliativa
Ichthyosis

  • Ichthyoses

  • Non-Syndromic Ichthyosis

  • Congenital Ichthyosis
Chromosome 18q Deletion Syndrome

  • 18q- Syndrome

  • Monosomy 18q

  • Deletion Of Long Arm Of Chromosome 18

  • Chromosome 18q- Syndrome

  • Deletion 18q

  • 18q Deletion Syndrome

  • Distal 18q Deletion Syndrome

  • Chromosome 18 Long Arm Deletion Syndrome

  • Chromosome 18q Monosomy

  • Del Syndrome

  • Chromosome 18 Deletion Syndrome
Familial Apolipoprotein C-Ii Deficiency

  • Familial Apoc-Ii Deficiency

  • Familial Apoc2 Deficiency

  • C-Ii Anapolipoproteinemia

  • Hyperlipoproteinemia, Type 1b

  • Hyperlipoproteinemia, Type Ib

  • Hyperlipoproteinemia Type I
Joubert Syndrome 1

  • Joubert Syndrome

  • Jbts

  • Cerebellooculorenal Syndrome 1

  • JBTS1

  • Joubert-Boltshauser Syndrome

  • Cerebelloparenchymal Disorder Iv

  • Cpd4

  • Cors1

  • Joubert Syndrome And Related Disorders

  • Jsrd

  • Familial Aplasia Of The Vermis

  • Joubert Syndrome Related Disorders

  • Js

  • Cerebellar Vermis Agenesis

  • Cerebelloparenchymal Disorder 4

  • Agenesis Of Cerebellar Vermis

  • Cerebello-Oculo-Renal Syndrome

  • Cors

  • Joubert-Bolthauser Syndrome

  • Cpd Iv

  • Classic Joubert Syndrome

  • Joubert Syndrome Type A

  • Pure Joubert Syndrome

  • Cerebello-Oculo-Renal Syndrome 1

  • Joubert Syndrome-1

  • Joubert Syndrome, Type 1

  • Joubert'S Syndrome
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS12716 SERPINB8 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19851 Serpinb8 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS26350 Serpinb8 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus SERPINB8 VGNC VGNC:80486
Mus musculus SERPINB8 MGD MGI:894657
Canis familiaris SERPINB8 VGNC VGNC:53976
Macaca mulatta SERPINB8 VGNC VGNC:77370
Rattus norvegicus SERPINB8 RGD RGD:1309833
Others SERPINB8 NCBI