SERPINB8 - serpin family B member 8 Gene

Homo sapiens

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

Gene ID: 5271 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12716	SERPINB8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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