Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5271
Gene name	Serpin family B member 8
Gene symbol	SERPINB8
Synonyms (NCBI Gene)	C18orf53CAP2PI-8PI8PSS5
Chromosome	18
Chromosome location	18q22.1
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 additi

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs144666367	C>T	Pathogenic-likely-pathogenic	Intron variant, downstream transcript variant, stop gained, coding sequence variant, 3 prime UTR variant, non coding transcript variant, genic downstream transcript variant
rs374612640	T>C	Pathogenic	Intron variant, missense variant, initiator codon variant
rs762923677	A>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, downstream transcript variant, 3 prime UTR variant, coding sequence variant, frameshift variant, intron variant

Show/Hide all (74)

miRTarBase ID	miRNA	Experiments
MIRT1338713	hsa-miR-132	CLIP-seq
MIRT1338714	hsa-miR-212	CLIP-seq
MIRT1338715	hsa-miR-3647-3p	CLIP-seq
MIRT1338716	hsa-miR-125a-5p	CLIP-seq
MIRT1338717	hsa-miR-125b	CLIP-seq
MIRT1338718	hsa-miR-1266	CLIP-seq
MIRT1338719	hsa-miR-1283	CLIP-seq
MIRT1338720	hsa-miR-219-2-3p	CLIP-seq
MIRT1338721	hsa-miR-3155	CLIP-seq
MIRT1338722	hsa-miR-3155b	CLIP-seq
MIRT1338723	hsa-miR-3664-3p	CLIP-seq
MIRT1338724	hsa-miR-3673	CLIP-seq
MIRT1338725	hsa-miR-4265	CLIP-seq
MIRT1338726	hsa-miR-4296	CLIP-seq
MIRT1338727	hsa-miR-4319	CLIP-seq
MIRT1338728	hsa-miR-4322	CLIP-seq
MIRT1338729	hsa-miR-4433	CLIP-seq
MIRT1338730	hsa-miR-4518	CLIP-seq
MIRT1338731	hsa-miR-4539	CLIP-seq
MIRT1338732	hsa-miR-4732-3p	CLIP-seq
MIRT1338733	hsa-miR-4765	CLIP-seq
MIRT1338734	hsa-miR-484	CLIP-seq
MIRT1338735	hsa-miR-542-3p	CLIP-seq
MIRT1338736	hsa-miR-643	CLIP-seq
MIRT1338737	hsa-miR-670	CLIP-seq
MIRT2100139	hsa-miR-3130-3p	CLIP-seq
MIRT2100140	hsa-miR-3714	CLIP-seq
MIRT2100141	hsa-miR-3942-3p	CLIP-seq
MIRT2100142	hsa-miR-4697-3p	CLIP-seq
MIRT2100143	hsa-miR-513a-5p	CLIP-seq
MIRT2100144	hsa-miR-590-3p	CLIP-seq
MIRT2100145	hsa-miR-767-5p	CLIP-seq
MIRT2394233	hsa-miR-2467-3p	CLIP-seq
MIRT2100140	hsa-miR-3714	CLIP-seq
MIRT2394234	hsa-miR-4493	CLIP-seq
MIRT2620603	hsa-miR-1252	CLIP-seq
MIRT2620604	hsa-miR-1273g	CLIP-seq
MIRT2620605	hsa-miR-140-5p	CLIP-seq
MIRT2620606	hsa-miR-3145-5p	CLIP-seq
MIRT2620607	hsa-miR-3175	CLIP-seq
MIRT2620608	hsa-miR-4419a	CLIP-seq
MIRT2620609	hsa-miR-4423-5p	CLIP-seq
MIRT2620610	hsa-miR-4425	CLIP-seq
MIRT2620611	hsa-miR-4434	CLIP-seq
MIRT2620612	hsa-miR-4468	CLIP-seq
MIRT2620613	hsa-miR-450b-3p	CLIP-seq
MIRT2620614	hsa-miR-4510	CLIP-seq
MIRT2620615	hsa-miR-4516	CLIP-seq
MIRT2620616	hsa-miR-4699-5p	CLIP-seq
MIRT2620617	hsa-miR-4703-3p	CLIP-seq
MIRT2620618	hsa-miR-509-3p	CLIP-seq
MIRT2620619	hsa-miR-520d-5p	CLIP-seq
MIRT2620620	hsa-miR-524-5p	CLIP-seq
MIRT2620621	hsa-miR-539	CLIP-seq
MIRT2620622	hsa-miR-548aa	CLIP-seq
MIRT2620623	hsa-miR-769-3p	CLIP-seq
MIRT2620603	hsa-miR-1252	CLIP-seq
MIRT2620604	hsa-miR-1273g	CLIP-seq
MIRT2620605	hsa-miR-140-5p	CLIP-seq
MIRT2620606	hsa-miR-3145-5p	CLIP-seq
MIRT2620607	hsa-miR-3175	CLIP-seq
MIRT2620608	hsa-miR-4419a	CLIP-seq
MIRT2620609	hsa-miR-4423-5p	CLIP-seq
MIRT2620610	hsa-miR-4425	CLIP-seq
MIRT2620611	hsa-miR-4434	CLIP-seq
MIRT2620612	hsa-miR-4468	CLIP-seq
MIRT2620613	hsa-miR-450b-3p	CLIP-seq
MIRT2620614	hsa-miR-4510	CLIP-seq
MIRT2620615	hsa-miR-4516	CLIP-seq
MIRT2620616	hsa-miR-4699-5p	CLIP-seq
MIRT2620617	hsa-miR-4703-3p	CLIP-seq
MIRT2620618	hsa-miR-509-3p	CLIP-seq
MIRT2620622	hsa-miR-548aa	CLIP-seq
MIRT2620623	hsa-miR-769-3p	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IBA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IDA	8530382
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0005515	Function	Protein binding	IPI	8530382, 28514442, 33961781
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	8530382
GO:0010951	Process	Negative regulation of endopeptidase activity	IDA	8530382
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0031012	Component	Extracellular matrix	HDA	28344315
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0090136	Process	Epithelial cell-cell adhesion	IMP	27476651

MIM	HGNC	e!Ensembl
601697	8952	ENSG00000166401

P50452

Protein name

Serpin B8 (Cytoplasmic antiproteinase 2) (CAP-2) (CAP2) (Peptidase inhibitor 8) (PI-8)

Protein function

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00079	Serpin	6 → 374	Serpin (serine protease inhibitor)	Domain

Sequence

MDDLCEANGTFAISLFKILGEEDNSRNVFFSPMSISSALAMVFMGAKGSTAAQMSQALCL
YKDGDIHRGFQSLLSEVNRTGTQYLLRTANRLFGEKTCDFLPDFKEYCQKFYQAELEELS
FAEDTEECRKHINDWVAEKTEGKISEVLDAGTVDPLTKLVLVNAIYFKGKWNEQFDRKYT
RGMLFKTNEEKKTVQMMFKEAKFKMGYADEVHTQVLELPYVEEELSMVILLPDDNTDLAV
VEKALTYEKFKAWTNSEKLTKSKVQVFLPRLKLEESYDLEPFLRRLGMIDAFDEAKADFS
GMSTEKNVPLSKVAHKCFVEVNEEGTEAAAATAVVRNSRCSRMEPRFCADHPFLFFIRHH
KTNCILFCGRFSSP

Sequence length

374

Interactions

View interactions

	Reactome
			Dissolution of Fibrin Clot

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Peeling skin syndrome 5	Pathogenic; Likely pathogenic	rs374612640, rs2511730891	RCV000240808 RCV003337791

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial cancer of breast	Likely benign	rs150067519	RCV005926534
Lung cancer	Likely benign	rs150067519	RCV005926536
Melanoma	Likely benign	rs150067519	RCV005926535
SERPINB8-related disorder	Benign; Likely benign	rs111432786, rs35382440, rs199724397, rs150067519, rs375766835, rs565450690	RCV004758867 RCV003926682 RCV003926565 RCV004758897 RCV003943912 RCV003949599

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Pancreatic Ductal	Associate	33048956
Exfoliative Ichthyosis Autosomal Recessive Ichthyosis Bullosa of Siemens like	Associate	27476651
Idiopathic Pulmonary Fibrosis	Associate	36622818
Lymphoma Large B Cell Diffuse	Associate	32219808
Macular Degeneration	Associate	23577725
Pancreatic Neoplasms	Associate	33048956

SERPINB8 (serpin family B member 8)