Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5269
Gene name Gene Name - the full gene name approved by the HGNC.
Serpin family B member 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SERPINB6
Synonyms (NCBI Gene) Gene synonyms aliases
CAP, DFNB91, MSTP057, PI-6, PI6, PTI, SPI3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DFNB91
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p25.2
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the serpin (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental thrombin inhibitor. The mouse homolog was found to be expressed in the ha
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs267607037 C>A Pathogenic Coding sequence variant, stop gained, non coding transcript variant
rs1201327476 C>A,T Likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT002646 hsa-miR-124-3p Microarray 18668037
MIRT002646 hsa-miR-124-3p Microarray 15685193
MIRT439676 hsa-miR-218-5p HITS-CLIP 23212916
MIRT439676 hsa-miR-218-5p HITS-CLIP 23212916
MIRT1338699 hsa-miR-122 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002020 Function Protease binding IPI 14670919, 17761692
GO:0004867 Function Serine-type endopeptidase inhibitor activity IBA 21873635
GO:0004867 Function Serine-type endopeptidase inhibitor activity IDA 17761692
GO:0005576 Component Extracellular region HDA 27068509
GO:0005615 Component Extracellular space IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
173321 8950 ENSG00000124570
Protein
UniProt ID P35237
Protein name Serpin B6 (Cytoplasmic antiproteinase) (CAP) (Peptidase inhibitor 6) (PI-6) (Placental thrombin inhibitor)
Protein function May be involved in the regulation of serine proteinases present in the brain or extravasated from the blood (By similarity). Inhibitor of cathepsin G, kallikrein-8 and thrombin. May play an important role in the inner ear in the protection again
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00079 Serpin 6 376 Serpin (serine protease inhibitor) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in keratinocytes (at protein level). Highest levels in skeletal muscle. Also found in placenta, cardiac muscle, lung, liver, kidney and pancreas. Expressed in the inner ear hair cells. Expressed abundantly by normal mast cell
Sequence
Sequence length 376
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Amoebiasis   Neutrophil degranulation
Dissolution of Fibrin Clot
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Deafness DEAFNESS, AUTOSOMAL RECESSIVE 91 rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822
View all (1019 more)
8614560
Nonsyndromic deafness Nonsyndromic Deafness rs606231410, rs794729665, rs730880338, rs1566538321 25719458, 23669344, 20451170
Unknown
Disease term Disease name Evidence References Source
Vitiligo Vitiligo GWAS
Crohn Disease Crohn Disease GWAS
Diabetes Diabetes GWAS
Lymphocytic Leukemia Lymphocytic Leukemia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Amyloidosis Associate 29967939
Hearing Loss Associate 20451170, 33997018
Hearing Loss Functional Associate 20451170
Hearing Loss Sensorineural Associate 20451170, 25719458
Mastocytoma Associate 14670919
Mouth Diseases Stimulate 36216310
Neoplasms Associate 36216310
Nonsyndromic sensorineural hearing loss Associate 20451170
Pancreatic Neoplasms Associate 12673124
Uterine Cervical Neoplasms Associate 31271297