Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SERPINB8 Gene

Aliases for SERPINB8 Gene

  • Serpin Family B Member 8 2 3 5
  • Cytoplasmic Antiproteinase 2 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
  • CAP2 3 4
  • PI-8 3 4
  • PI8 3 4
  • Minor Histocompatibility Protein HMSD Variant Form 3
  • Protease Inhibitor 8 (Ovalbumin Type) 3
  • Serpin B8 3
  • C18orf53 3
  • HSMD-V 3
  • CAP-2 4
  • HMSD 3
  • 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 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 , fRNAdb sequence ontologies and piRNA Summary for SERPINB8 Gene

Genomics for SERPINB8 Gene

GeneHancer (GH) Regulatory Elements for SERPINB8 Gene

Promoters and enhancers for SERPINB8 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18I063968 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 556.8 +0.8 750 3.4 HDGF PKNOX1 ATF1 SIN3A DMAP1 ZNF48 YY1 ETS1 GLIS2 ELK1 SERPINB8 LOC105372165 SERPINB10 HMSD RPL12P39
GH18I063935 Enhancer 1.2 Ensembl ENCODE dbSUPER 12 -33.4 -33351 1.7 ELF3 RB1 BATF IRF4 RAD21 GLIS2 SCRT2 ZNF143 ETV6 BCLAF1 SERPINB10 SERPINB8 HMSD
GH18I063979 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 10.6 +9.8 9790 0.6 ELF3 CTCF ZNF654 TEAD1 ZFP37 TRIM22 ELF1 RAD21 TEAD3 SMC3 SERPINB8 SERPINB10 HMSD LOC105372165 RPL12P39
GH18I063859 Enhancer 0.8 FANTOM5 ENCODE dbSUPER 11.4 -109.5 -109499 1.4 POLR2A SERPINB10 SERPINB2 SERPINB8 VPS4B SERPINB7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SERPINB8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SERPINB8 gene promoter:

Genomic Locations for SERPINB8 Gene

Genomic Locations for SERPINB8 Gene
49,855 bases
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 StructureGene Density

RefSeq DNA sequence for SERPINB8 Gene

Proteins for SERPINB8 Gene

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

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

    Protein attributes for SERPINB8 Gene

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

    Alternative splice isoforms for SERPINB8 Gene


neXtProt entry for SERPINB8 Gene

Post-translational modifications for SERPINB8 Gene

No Post-translational modifications

No data available for DME Specific Peptides for SERPINB8 Gene

Domains & Families for SERPINB8 Gene

Gene Families for SERPINB8 Gene

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

Protein Domains for SERPINB8 Gene

Suggested Antigen Peptide Sequences for SERPINB8 Gene

Graphical View of Domain Structure for InterPro Entry



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

Function for SERPINB8 Gene

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 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 Model Products

miRNA for SERPINB8 Gene

Clone Products

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


Subcellular locations from

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
extracellular 5
cytosol 5
plasma membrane 2
nucleus 2
golgi apparatus 2
mitochondrion 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleus (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 --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA 8530382
GO:0070062 extracellular exosome IDA,HDA 23533145
genes like me logo Genes that share ontologies with SERPINB8: view

Pathways & Interactions for SERPINB8 Gene

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

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

No Compound Related Data Available

Transcripts for SERPINB8 Gene

Unigene Clusters for SERPINB8 Gene

Serpin peptidase inhibitor, clade B (ovalbumin), member 8:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for SERPINB8 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SERPINB8 Gene

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

Protein tissue co-expression partners for SERPINB8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SERPINB8 Gene:


SOURCE GeneReport for Unigene cluster for SERPINB8 Gene:


Evidence on tissue expression from TISSUES for SERPINB8 Gene

  • Skin(4.4)
  • Liver(2.4)
genes like me logo Genes that share expression patterns with SERPINB8: view

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
(Pan troglodytes)
Mammalia SERPINB8 33 34
  • 99.38 (n)
(Bos Taurus)
Mammalia SERPINB8 33 34
  • 85.29 (n)
(Canis familiaris)
Mammalia SERPINB8 33 34
  • 84.58 (n)
(Mus musculus)
Mammalia Serpinb8 33 16 34
  • 81.11 (n)
(Rattus norvegicus)
Mammalia Serpinb8 33
  • 81.11 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 62 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 58 (a)
fruit fly
(Drosophila melanogaster)
Insecta Spn3 35
  • 35 (a)
CG9455 35
  • 34 (a)
Spn1 35
  • 34 (a)
Spn2 35
  • 34 (a)
Spn43Aa 35
  • 33 (a)
Spn6 35
  • 33 (a)
CG6687 35
  • 31 (a)
CG9460 35
  • 31 (a)
Spn5 35
  • 30 (a)
CG6717 35
  • 29 (a)
CG7722 35
  • 28 (a)
Species where no ortholog for SERPINB8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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

Gene Tree for SERPINB8 (if available)
Gene Tree for SERPINB8 (if available)

Paralogs for SERPINB8 Gene

Variants for SERPINB8 Gene

Sequence variations from dbSNP and Humsavar for SERPINB8 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs144666367 pathogenic, Peeling skin syndrome 5 63,987,003(+) C/T 3_prime_UTR_variant, coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant, stop_gained
rs374612640 pathogenic, Peeling skin syndrome 5 63,978,310(+) T/C initiator_codon_variant, intron_variant, missense_variant
rs762923677 pathogenic, Peeling skin syndrome 5 63,987,099(+) AA/A 3_prime_UTR_variant, coding_sequence_variant, downstream_transcript_variant, frameshift, genic_downstream_transcript_variant, intron_variant
rs1000006505 -- 63,983,258(+) G/A intron_variant
rs1000052707 -- 63,991,132(+) A/G genic_downstream_transcript_variant, intron_variant

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

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

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for SERPINB8 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SERPINB8 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
peeling skin syndrome 5
  • pss5
exfoliative ichthyosis
  • autosomal recessive exfoliative ichthyosis
  • embryoma
peeling skin syndrome
  • exfoliation syndrome
chromosome 18q deletion syndrome
  • chromosome 18q- syndrome
- elite association - COSMIC cancer census association via MalaCards


  • 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 mutations affecting the gene represented in this entry.

Additional Disease Information for SERPINB8

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 22 58
  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 58
  3. Update of the human and mouse SERPIN gene superfamily. (PMID: 24172014) Heit C … Vasiliou V (Human genomics 2013) 2 3 58
  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 44 58
  5. Association analyses identify six new psoriasis susceptibility loci in the Chinese population. (PMID: 20953187) Sun LD … Zhang XJ (Nature genetics 2010) 3 44 58

Products for SERPINB8 Gene

Sources for SERPINB8 Gene

Loading form....