Gene Gene information from NCBI Gene database.
Entrez ID 646424
Gene name Serine peptidase inhibitor Kazal type 8 (putative)
Gene symbol SPINK8
Synonyms (NCBI Gene)
-
Chromosome 3
Chromosome location 3p21.31
miRNA miRNA information provided by mirtarbase database.
6
miRTarBase ID miRNA Experiments Reference
MIRT2337761 hsa-miR-199a-3p CLIP-seq
MIRT2337762 hsa-miR-199b-3p CLIP-seq
MIRT2337763 hsa-miR-3129-5p CLIP-seq
MIRT2337764 hsa-miR-4464 CLIP-seq
MIRT2337765 hsa-miR-4748 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
GO ID Ontology Definition Evidence Reference
GO:0004867 Function Serine-type endopeptidase inhibitor activity IEA
GO:0005576 Component Extracellular region IEA
GO:0030414 Function Peptidase inhibitor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P0C7L1
Protein name Serine protease inhibitor Kazal-type 8
Protein function Probable serine protease inhibitor.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00050 Kazal_1 42 94 Kazal-type serine protease inhibitor domain Domain
Sequence
MKGICSDAILVLATSMWMAFAIDFPLPMASERGQLDKTIVECLKNVNKCWFLSYIKPSEP
ICGSDQVTYSSDCHLCSKILFEGLNITKLYDGQC
ENS
Sequence length 97
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Neoplasms Breast neoplasm Pubtator 36243728 Associate
★☆☆☆☆
Found in Text Mining only