Human Gene SERPINB8 (ENST00000397985.7) from GENCODE V44
  Description: Homo sapiens serpin family B member 8 (SERPINB8), transcript variant 2, mRNA. (from RefSeq NM_198833)
RefSeq Summary (NM_002640): 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].
Gencode Transcript: ENST00000397985.7
Gencode Gene: ENSG00000166401.15
Transcript (Including UTRs)
   Position: hg38 chr18:63,970,081-63,989,374 Size: 19,294 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg38 chr18:63,978,309-63,987,278 Size: 8,970 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:63,970,081-63,989,374)mRNA (may differ from genome)Protein (374 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SPB8_HUMAN
DESCRIPTION: RecName: Full=Serpin B8; AltName: Full=Cytoplasmic antiproteinase 2; Short=CAP-2; Short=CAP2; AltName: Full=Peptidase inhibitor 8; Short=PI-8;
SUBCELLULAR LOCATION: Cytoplasm.
SIMILARITY: Belongs to the serpin family. Ov-serpin subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SERPINB8
Diseases sorted by gene-association score: peeling skin syndrome 5* (919), exfoliative ichthyosis* (268), blastoma (8), peeling skin syndrome (8), chromosome 18q deletion syndrome (7)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.82 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 170.21 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -23.70100-0.237 Picture PostScript Text
3' UTR -455.702096-0.217 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR023795 - Protease_inhib_I4_serpin_CS
IPR023796 - Serpin_dom
IPR000215 - Serpin_fam

Pfam Domains:
PF00079 - Serpin (serine protease inhibitor)

ModBase Predicted Comparative 3D Structure on P50452
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004867 serine-type endopeptidase inhibitor activity
GO:0005515 protein binding
GO:0030414 peptidase inhibitor activity

Biological Process:
GO:0010466 negative regulation of peptidase activity
GO:0010951 negative regulation of endopeptidase activity
GO:0090136 epithelial cell-cell adhesion

Cellular Component:
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  DQ656055 - Homo sapiens clone UGL302-E-B6, mRNA sequence.
AK300391 - Homo sapiens cDNA FLJ57144 complete cds, highly similar to Serpin B8.
L40377 - Homo sapiens cytoplasmic antiproteinase 2 (CAP2) mRNA, complete cds.
JD038921 - Sequence 19945 from Patent EP1572962.
U92984 - Homo sapiens clone DT1P1B12 mRNA, CAG repeat region.
BC034528 - Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8, mRNA (cDNA clone MGC:24899 IMAGE:4780455), complete cds.
BX571754 - Homo sapiens mRNA; cDNA DKFZp686O02190 (from clone DKFZp686O02190).
AK313782 - Homo sapiens cDNA, FLJ94391, highly similar to Homo sapiens serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), mRNA.
CU689910 - Synthetic construct Homo sapiens gateway clone IMAGE:100016866 5' read SERPINB8 mRNA.
HQ447101 - Synthetic construct Homo sapiens clone IMAGE:100070386; CCSB008069_01 serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8) gene, encodes complete protein.
KJ897329 - Synthetic construct Homo sapiens clone ccsbBroadEn_06723 SERPINB8 gene, encodes complete protein.
AB528654 - Synthetic construct DNA, clone: pF1KB6567, Homo sapiens SERPINB8 gene for serpin peptidase inhibitor, clade B (ovalbumin), member 8, without stop codon, in Flexi system.
EU831929 - Synthetic construct Homo sapiens clone HAIB:100066958; DKFZo008C0623 serpin peptidase inhibitor, clade B (ovalbumin), member 8 protein (SERPINB8) gene, encodes complete protein.
EU832024 - Synthetic construct Homo sapiens clone HAIB:100067053; DKFZo004C0624 serpin peptidase inhibitor, clade B (ovalbumin), member 8 protein (SERPINB8) gene, encodes complete protein.
JD096578 - Sequence 77602 from Patent EP1572962.
JD273136 - Sequence 254160 from Patent EP1572962.
JD083741 - Sequence 64765 from Patent EP1572962.
JD358012 - Sequence 339036 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P50452 (Reactome details) participates in the following event(s):

R-HSA-159001 urokinase plasminogen activator (two-chain):uPAR + plasminogen activator inhibitor 2 (PAI-2) -> PAI-2:urokinase plasminogen activator (two-chain):uPAR
R-HSA-75205 Dissolution of Fibrin Clot
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000397985.1, ENST00000397985.2, ENST00000397985.3, ENST00000397985.4, ENST00000397985.5, ENST00000397985.6, NM_198833, P50452, PI8, Q7Z2V6, Q8N178, SPB8_HUMAN, uc002lju.1, uc002lju.2, uc002lju.3, uc002lju.4, uc002lju.5
UCSC ID: ENST00000397985.7
RefSeq Accession: NM_002640
Protein: P50452 (aka SPB8_HUMAN)
CCDS: CCDS11991.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.