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

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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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Peeling skin syndrome 5	Pathogenic; Likely pathogenic	rs374612640, rs2511730891	RCV000240808 RCV003337791	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED ANXIETY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEELING SKIN SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEELING SKIN SYNDROME TYPE A	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SERPINB8-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Age related macular degeneration	Age-related macular degeneration	BEFREE	23577725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	33048956	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exfoliative ichthyosis	Exfoliative Ichthyosis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ICHTHYOSIS EXFOLIATIVA	Ichthyosis Exfoliativa	CLINGEN_DG	12417609, 27476651		★★★★★ ★☆☆☆☆ Found in Text Mining only
ICHTHYOSIS EXFOLIATIVA	Ichthyosis Exfoliativa	BEFREE	27476651		★★★★★ ★☆☆☆☆ Found in Text Mining only
ICHTHYOSIS EXFOLIATIVA	Ichthyosis Exfoliativa	ORPHANET_DG	27476651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	36622818	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	23577725	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	33048956	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PEELING SKIN SYNDROME	Peeling Skin Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEELING SKIN SYNDROME 5	Peeling Skin Syndrome	GENOMICS_ENGLAND_DG	27476651		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PEELING SKIN SYNDROME 5	Peeling Skin Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Psoriasis	Psoriasis	CTD_human_DG	20953187		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASDB_DG	20953187		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	22814393		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pustulosis of Palms and Soles	Palmoplantar Pustules	CTD_human_DG	20953187		★★★★★ ★☆☆☆☆ Found in Text Mining only

SERPINB8 (serpin family B member 8)