SERPINB8 Gene (Protein Coding)

Serpin Family B Member 8

GC18P063969
GIFtS:
43
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 ge... See more...

Aliases for SERPINB8 Gene

Aliases for SERPINB8 Gene

  • Serpin Family B Member 8 2 3 5
  • Cytoplasmic Antiproteinase 2 2 3 4
  • CAP2 2 3 4
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade B (Ovalbumin), Member 8 2 3
  • Serpin Peptidase Inhibitor, Clade B (Ovalbumin), Member 8 2 3
  • Peptidase Inhibitor 8 3 4
  • Serpin B8 3 4
  • PI-8 3 4
  • PI8 3 4
  • Protease Inhibitor 8 (Ovalbumin Type) 3
  • C18orf53 3
  • SERPINB8 5
  • CAP-2 4
  • PSS5 3

External Ids for SERPINB8 Gene

Previous HGNC Symbols for SERPINB8 Gene

  • PI8

Previous GeneCards Identifiers for SERPINB8 Gene

  • GC18P061476
  • GC18P061610
  • GC18P061422
  • GC18P059786
  • GC18P059295
  • GC18P059788
  • GC18P061637
  • GC18P058338

Summaries for SERPINB8 Gene

Entrez Gene Summary for SERPINB8 Gene

  • 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]

GeneCards Summary for SERPINB8 Gene

SERPINB8 (Serpin Family B Member 8) is a Protein Coding gene. Diseases associated with SERPINB8 include Peeling Skin Syndrome 5 and Exfoliative Ichthyosis. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF). Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINB6.

UniProtKB/Swiss-Prot Summary for SERPINB8 Gene

  • Has an important role in epithelial desmosome-mediated cell-cell adhesion.

Gene Wiki entry for SERPINB8 Gene

Additional gene information for SERPINB8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SERPINB8 Gene

Genomics for SERPINB8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SERPINB8 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH18J063968 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 256.7 +0.6 646 3.4 ZBTB10 CEBPA ETS1 POLR2A ZIC2 THAP11 CEBPB SIN3A ELK1 GABPA SERPINB8 ENSG00000283667 LOC105372165 SERPINB10 HMSD
GH18J063948 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 250.3 -20.4 -20375 1.9 BCL11A POLR2A CTCF VEZF1 EBF1 GABPB1 SMARCA5 SP2 CBFB ZNF189 HMSD SERPINB8 SERPINB10 HSALNG0122075
GH18J063978 Promoter/Enhancer 0.5 EPDnew dbSUPER 250.4 +8.4 8397 0.1 HSALNG0122078 SERPINB8 SERPINB10 LOC105372165 HMSD
GH18J063878 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 13.4 -88.6 -88628 6.8 CEBPB MAX EP300 EBF1 RFX5 STAT3 TCF7L2 JUND SPI1 BATF SERPINB2 SERPINB10 SERPINB8 VPS4B lnc-SERPINB3-6
GH18J063935 Promoter/Enhancer 1.3 ENCODE CraniofacialAtlas dbSUPER 12 -33.6 -33586 1.4 ZBTB10 CTCF ELF1 IRF4 TRIM22 EBF1 SMC3 GABPB1 RAD21 YY1 HSALNG0122074 SERPINB10 SERPINB8 piR-48759-147 HMSD
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SERPINB8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SERPINB8

Top Transcription factor binding sites by QIAGEN in the SERPINB8 gene promoter:
  • aMEF-2
  • E47
  • MEF-2A
  • Msx-1
  • NF-E2
  • NF-E2 p45
  • POU3F1
  • RP58
  • Tal-1beta
  • YY1

Genomic Locations for SERPINB8 Gene

Latest Assembly
chr18:63,970,029-64,019,779
(GRCh38/hg38)
Size:
49,751 bases
Orientation:
Plus strand

Previous Assembly
chr18:61,637,315-61,687,013
(GRCh37/hg19 by Entrez Gene)
Size:
49,699 bases
Orientation:
Plus strand

chr18:61,637,159-61,672,278
(GRCh37/hg19 by Ensembl)
Size:
35,120 bases
Orientation:
Plus strand

Genomic View for SERPINB8 Gene

Genes around SERPINB8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERPINB8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERPINB8 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SERPINB8 Gene

Proteins for SERPINB8 Gene

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  • Protein details for SERPINB8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P50452-SPB8_HUMAN
    Recommended name:
    Serpin B8
    Protein Accession:
    P50452
    Secondary Accessions:
    • B4DTW2
    • Q7Z2V6
    • Q8N178

    Protein attributes for SERPINB8 Gene

    Size:
    374 amino acids
    Molecular mass:
    42767 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SERPINB8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SERPINB8 Gene

Protein Expression for SERPINB8 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SERPINB8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SERPINB8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SERPINB8 Gene

Domains & Families for SERPINB8 Gene

Gene Families for SERPINB8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SERPINB8 Gene

InterPro:
Blocks:
  • Serpin
ProtoNet:

Suggested Antigen Peptide Sequences for SERPINB8 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57144, highly similar to Serpin B8 (B4DTW2_HUMAN)
  • Peptidase inhibitor 8 (SPB8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P50452

UniProtKB/Swiss-Prot:

SPB8_HUMAN :
  • Belongs to the serpin family. Ov-serpin subfamily.
Family:
  • Belongs to the serpin family. Ov-serpin subfamily.
genes like me logo Genes that share domains with SERPINB8: view

Function for SERPINB8 Gene

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  6. Cell Lines for research

Molecular function for SERPINB8 Gene

UniProtKB/Swiss-Prot Function:
Has an important role in epithelial desmosome-mediated cell-cell adhesion.

Phenotypes From GWAS Catalog for SERPINB8 Gene

Gene Ontology (GO) - Molecular Function for SERPINB8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity IBA,IDA 8530382
GO:0005515 protein binding IPI 8530382
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with SERPINB8: view
genes like me logo Genes that share phenotypes with SERPINB8: view

Human Phenotype Ontology for SERPINB8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

miRNA for SERPINB8 Gene

miRTarBase miRNAs that target SERPINB8

Inhibitory RNAs for research

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Clone products for research

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SERPINB8 Gene

Localization for SERPINB8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPINB8 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SERPINB8 gene
Compartment Confidence
cytosol 5
extracellular 4
nucleus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SERPINB8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IBA 21873635
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol IDA 8530382
GO:0062023 collagen-containing extracellular matrix HDA 28344315
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with SERPINB8: view

Pathways & Interactions for SERPINB8 Gene

PathCards logo

SuperPathways for SERPINB8 Gene

SuperPathway Contained pathways
1 Dissolution of Fibrin Clot
Dissolution of Fibrin Clot
-
2 Response to elevated platelet cytosolic Ca2+
Hemostasis
.44
3 CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
-
genes like me logo Genes that share pathways with SERPINB8: view

Pathways by source for SERPINB8 Gene

2 Reactome pathways for SERPINB8 Gene
1 GeneGo (Thomson Reuters) pathway for SERPINB8 Gene
  • CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)

Gene Ontology (GO) - Biological Process for SERPINB8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010951 negative regulation of endopeptidase activity IDA 8530382
GO:0090136 epithelial cell-cell adhesion IMP 27476651
genes like me logo Genes that share ontologies with SERPINB8: view

No data available for SIGNOR curated interactions for SERPINB8 Gene

Drugs & Compounds for SERPINB8 Gene

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No Compound Related Data Available

Transcripts for SERPINB8 Gene

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mRNA/cDNA for SERPINB8 Gene

9 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERPINB8

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for SERPINB8 Gene

No ASD Table

Relevant External Links for SERPINB8 Gene

GeneLoc Exon Structure for
SERPINB8

Expression for SERPINB8 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SERPINB8 Gene

mRNA expression in normal human tissues for SERPINB8 Gene
mRNA expression by GTEx for SERPINB8 GenemRNA expression by BioGPS for SERPINB8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SERPINB8 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x4.8).

Protein differential expression in normal tissues from HIPED for SERPINB8 Gene

This gene is overexpressed in Monocytes (18.1), Peripheral blood mononuclear cells (15.9), and Platelet (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SERPINB8 Gene



Protein tissue co-expression partners for SERPINB8 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SERPINB8

SOURCE GeneReport for Unigene cluster for SERPINB8 Gene:

Hs.368077

Evidence on tissue expression from TISSUES for SERPINB8 Gene

  • Skin(4.4)
genes like me logo Genes that share expression patterns with SERPINB8: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SERPINB8 Gene

Orthologs for SERPINB8 Gene

This gene was present in the common ancestor of animals.

Orthologs for SERPINB8 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia SERPINB8 30 31
  • 99.38 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SERPINB8 30 31
  • 85.29 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SERPINB8 30 31
  • 84.58 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Serpinb8 30
  • 81.11 (n)
Mouse
(Mus musculus)
 Mammalia Serpinb8 30 17 31
  • 81.11 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 62 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 58 (a)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta Spn3 32
  • 35 (a)
CG9455 32
  • 34 (a)
Spn1 32
  • 34 (a)
Spn2 32
  • 34 (a)
Spn43Aa 32
  • 33 (a)
Spn6 32
  • 33 (a)
CG6687 32
  • 31 (a)
CG9460 32
  • 31 (a)
Spn5 32
  • 30 (a)
CG6717 32
  • 29 (a)
CG7722 32
  • 28 (a)
Species where no ortholog for SERPINB8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for SERPINB8 Gene

ENSEMBL:
Gene Tree for SERPINB8 (if available)
TreeFam:
Gene Tree for SERPINB8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SERPINB8: view image

Paralogs for SERPINB8 Gene

Paralogs for SERPINB8 Gene

(38) SIMAP similar genes for SERPINB8 Gene using alignment to 5 proteins:

  • SPB8_HUMAN
  • B4DTW2_HUMAN
  • C9JTJ8_HUMAN
  • C9JVA8_HUMAN
  • H7BXK7_HUMAN

Pseudogenes.org Pseudogenes for SERPINB8 Gene

genes like me logo Genes that share paralogs with SERPINB8: view

Variants for SERPINB8 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SERPINB8 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs144666367 Pathogenic/Likely Pathogenic: Peeling skin syndrome 5 63,987,003(+) C/T
NM_002640.4(SERPINB8):c.850C>T (p.Arg284Ter) 		NONSENSE,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON
rs374612640 Pathogenic: Peeling skin syndrome 5 63,978,310(+) T/C
NM_002640.4(SERPINB8):c.2T>C (p.Met1Thr) 		INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT,INTRON
rs61735438 Benign: not provided 63,978,389(+) C/T
NM_002640.4(SERPINB8):c.81C>T (p.Asn27=) 		SYNONYMOUS_VARIANT,INTRON
rs762923677 Pathogenic: Peeling skin syndrome 5 63,987,098(+) CA/C
NM_002640.4(SERPINB8):c.947del (p.Lys316fs) 		FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON
rs1648493 - p.Lys158Asn

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SERPINB8 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SERPINB8 Gene

Variant ID Type Subtype PubMed ID
esv21739 CNV gain 19812545
esv3642785 CNV gain 21293372
nsv1066552 CNV gain 25217958
nsv1067311 CNV loss 25217958
nsv833673 CNV gain 17160897

Variation tolerance for SERPINB8 Gene

Residual Variation Intolerance Score: 65.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.37; 81.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SERPINB8 Gene

Human Gene Mutation Database (HGMD)
SERPINB8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERPINB8

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINB8 Gene

Disorders for SERPINB8 Gene

MalaCards: The human disease database

(7) MalaCards diseases for SERPINB8 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
peeling skin syndrome 5
  • pss5
exfoliative ichthyosis
  • autosomal recessive exfoliative ichthyosis
peeling skin syndrome
  • skin peeling syndrome
ichthyosis
  • ichthyoses
burn-mckeown syndrome
  • bmks
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SPB8_HUMAN
  • Peeling skin syndrome 5 (PSS5) [MIM:617115]: A form of peeling skin syndrome, a genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non-inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels. PSS5 patients manifest hyperkeratosis and superficial peeling of areas of the palmar and dorsal faces of hands and feet. Additional variable features include erythema, superficial scaling of forearms and legs and diffuse yellowish hyperkeratotic palmoplantar plaques. PSS5 inheritance is autosomal recessive. {ECO:0000269 PubMed:27476651}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for SERPINB8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SERPINB8: view

No data available for Genatlas for SERPINB8 Gene

Publications for SERPINB8 Gene

  1. Molecular cloning, expression, and partial characterization of two novel members of the ovalbumin family of serine proteinase inhibitors. (PMID: 8530382) Sprecher CA … Kisiel W (The Journal of biological chemistry 1995) 2 3 4 23
  2. Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions. (PMID: 27476651) Pigors M … Blaydon DC (American journal of human genetics 2016) 3 4 74
  3. Update of the human and mouse SERPIN gene superfamily. (PMID: 24172014) Heit C … Vasiliou V (Human genomics 2013) 2 3
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. Association analyses identify six new psoriasis susceptibility loci in the Chinese population. (PMID: 20953187) Sun LD … Zhang XJ (Nature genetics 2010) 3 41

ExternalLinks

View latest publications for SERPINB8 gene in Mastermind

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