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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 Dissolution of Fibrin Clot. 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

Regulatory Elements for SERPINB8 Gene

Enhancers for SERPINB8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18H063878 1.7 FANTOM5 Ensembl ENCODE dbSUPER 13.4 -88.8 -88849 6 MXI1 JUN MAX CEBPG EBF1 BATF RFX5 EED RCOR1 FOS SERPINB2 SERPINB10 SERPINB8 VPS4B
GH18H063935 1.3 Ensembl ENCODE dbSUPER 12 -33.4 -33352 1 ELF3 RB1 BATF RAD21 GLIS2 SCRT2 ZNF143 ETV6 RUNX3 CREM SERPINB10 SERPINB8 HMSD
GH18H063859 0.9 FANTOM5 ENCODE dbSUPER 11.4 -109.5 -109500 1 POLR2A SERPINB10 SERPINB2 SERPINB8 VPS4B SERPINB7
GH18H063979 0.9 ENCODE dbSUPER 10.6 +9.7 9707 0 ELF3 CTCF ZNF654 TEAD1 ZFP37 TRIM22 ELF1 RAD21 TEAD3 ZNF143 SERPINB8 SERPINB10 LOC105372165 RPL12P39
GH18H063968 1.3 ENCODE dbSUPER 6.7 +0.8 750 3 HDGF PKNOX1 ATF1 DMAP1 YY1 ETS1 GLIS2 ELK1 KLF7 FOS SERPINB10 SERPINB8 LOC105372165 RPL12P39
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SERPINB8 on UCSC Golden Path with GeneCards custom track

Promoters for SERPINB8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000104577 575 1401 HDGF PKNOX1 ATF1 DMAP1 YY1 ETS1 GLIS2 ELK1 KLF7 FOS

Genomic Location for SERPINB8 Gene

Chromosome:
18
Start:
63,969,925 bp from pter
End:
64,019,779 bp from pter
Size:
49,855 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 StructureGene Density

RefSeq DNA sequence for SERPINB8 Gene

Proteins for SERPINB8 Gene

  • 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

Post-translational modifications for SERPINB8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • R&D Systems Antibodies for SERPINB8 (Serpin B8/Proteinase Inhibitor 8)

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):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SERPINB8 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SERPINB8 Gene

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

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

Animal Model Products

CRISPR Products

miRNA for SERPINB8 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SERPINB8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
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 (2)
  • 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 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SERPINB8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for SERPINB8 Gene

GeneLoc Exon Structure for
SERPINB8
ECgene alternative splicing isoforms for
SERPINB8

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:

SERPINB8

SOURCE GeneReport for Unigene cluster for SERPINB8 Gene:

Hs.368077

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

Primer Products

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 33 34
  • 99.38 (n)
cow
(Bos Taurus)
Mammalia SERPINB8 33 34
  • 85.29 (n)
dog
(Canis familiaris)
Mammalia SERPINB8 33 34
  • 84.58 (n)
mouse
(Mus musculus)
Mammalia Serpinb8 33 16 34
  • 81.11 (n)
rat
(Rattus norvegicus)
Mammalia Serpinb8 33
  • 81.11 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 62 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 58 (a)
OneToMany
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

ENSEMBL:
Gene Tree for SERPINB8 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs144666367 Pathogenic 63,987,003(+) TCCTT(C/T)GAAGA intron-variant, downstream-variant-500B, reference, utr-variant-3-prime, stop-gained
rs374612640 Pathogenic 63,978,310(+) TCTGA(C/T)GGATG intron-variant, reference, missense
rs886037923 Pathogenic 63,987,100(+) CCACA(-/A)GTGCT intron-variant, downstream-variant-500B, reference, utr-variant-3-prime, frameshift-variant
rs1000006505 -- 63,983,258(+) CTGGG(A/G)TGATG intron-variant
rs1000052707 -- 63,991,132(+) TAATA(A/G)GTTTT intron-variant

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)

Relevant External Links for SERPINB8 Gene

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

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, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
peeling skin syndrome 5
  • pss5
exfoliative ichthyosis
  • autosomal recessive exfoliative ichthyosis
blastoma
  • embryoma
peeling skin syndrome
  • peeling skin syndrome 1
chromosome 18q deletion syndrome
  • 18q- syndrome
- 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 mutations affecting the gene represented in this entry.

Relevant External Links for SERPINB8

Genetic Association Database (GAD)
SERPINB8
Human Genome Epidemiology (HuGE) Navigator
SERPINB8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SERPINB8
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 60
  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 60
  3. Update of the human and mouse SERPIN gene superfamily. (PMID: 24172014) Heit C … Vasiliou V (Human genomics 2013) 2 3 60
  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 45 60
  5. Association analyses identify six new psoriasis susceptibility loci in the Chinese population. (PMID: 20953187) Sun LD … Zhang XJ (Nature genetics 2010) 3 45 60

Products for SERPINB8 Gene

Sources for SERPINB8 Gene

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