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	5269
Gene name	Serpin family B member 6
Gene symbol	SERPINB6
Synonyms (NCBI Gene)	CAPDFNB91MSTP057PI-6PI6PTISPI3
Chromosome	6
Chromosome location	6p25.2
Summary	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

Show/Hide all (2)

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

Show/Hide all (57)

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
MIRT1338700	hsa-miR-3177-3p	CLIP-seq
MIRT1338701	hsa-miR-3614-5p	CLIP-seq
MIRT1338702	hsa-miR-3940-5p	CLIP-seq
MIRT1338703	hsa-miR-4269	CLIP-seq
MIRT1338704	hsa-miR-4318	CLIP-seq
MIRT1338705	hsa-miR-4507	CLIP-seq
MIRT1338706	hsa-miR-4715-3p	CLIP-seq
MIRT1338707	hsa-miR-4717-5p	CLIP-seq
MIRT1338708	hsa-miR-4753-5p	CLIP-seq
MIRT1338699	hsa-miR-122	CLIP-seq
MIRT1338700	hsa-miR-3177-3p	CLIP-seq
MIRT1338701	hsa-miR-3614-5p	CLIP-seq
MIRT1338702	hsa-miR-3940-5p	CLIP-seq
MIRT1338703	hsa-miR-4269	CLIP-seq
MIRT1338704	hsa-miR-4318	CLIP-seq
MIRT1338705	hsa-miR-4507	CLIP-seq
MIRT1338706	hsa-miR-4715-3p	CLIP-seq
MIRT1338707	hsa-miR-4717-5p	CLIP-seq
MIRT1338708	hsa-miR-4753-5p	CLIP-seq
MIRT1338700	hsa-miR-3177-3p	CLIP-seq
MIRT1338701	hsa-miR-3614-5p	CLIP-seq
MIRT1338702	hsa-miR-3940-5p	CLIP-seq
MIRT1338703	hsa-miR-4269	CLIP-seq
MIRT1338704	hsa-miR-4318	CLIP-seq
MIRT1338705	hsa-miR-4507	CLIP-seq
MIRT1338706	hsa-miR-4715-3p	CLIP-seq
MIRT1338707	hsa-miR-4717-5p	CLIP-seq
MIRT1338708	hsa-miR-4753-5p	CLIP-seq
MIRT1338699	hsa-miR-122	CLIP-seq
MIRT1338700	hsa-miR-3177-3p	CLIP-seq
MIRT1338701	hsa-miR-3614-5p	CLIP-seq
MIRT1338702	hsa-miR-3940-5p	CLIP-seq
MIRT1338703	hsa-miR-4269	CLIP-seq
MIRT1338704	hsa-miR-4318	CLIP-seq
MIRT1338705	hsa-miR-4507	CLIP-seq
MIRT1338706	hsa-miR-4715-3p	CLIP-seq
MIRT1338707	hsa-miR-4717-5p	CLIP-seq
MIRT1338708	hsa-miR-4753-5p	CLIP-seq
MIRT1338699	hsa-miR-122	CLIP-seq
MIRT2690481	hsa-miR-3150b-3p	CLIP-seq
MIRT1338700	hsa-miR-3177-3p	CLIP-seq
MIRT2690482	hsa-miR-3184	CLIP-seq
MIRT1338701	hsa-miR-3614-5p	CLIP-seq
MIRT1338702	hsa-miR-3940-5p	CLIP-seq
MIRT2690483	hsa-miR-423-5p	CLIP-seq
MIRT1338703	hsa-miR-4269	CLIP-seq
MIRT1338704	hsa-miR-4318	CLIP-seq
MIRT1338705	hsa-miR-4507	CLIP-seq
MIRT1338706	hsa-miR-4715-3p	CLIP-seq
MIRT1338707	hsa-miR-4717-5p	CLIP-seq
MIRT1338708	hsa-miR-4753-5p	CLIP-seq
MIRT2690484	hsa-miR-4784	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002020	Function	Protease binding	IPI	14670919, 17761692
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IBA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IDA	17761692
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	TAS	8415716
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005634	Component	Nucleus	IDA	14670919
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	14670919, 17761692, 20451170
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS	8415716
GO:0005886	Component	Plasma membrane	TAS
GO:0007605	Process	Sensory perception of sound	IMP	20451170
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0030667	Component	Secretory granule membrane	TAS
GO:0031012	Component	Extracellular matrix	HDA	28344315, 28675934
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0071470	Process	Cellular response to osmotic stress	IMP	20451170
GO:0097180	Component	Serine protease inhibitor complex	IDA	17761692
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS

MIM	HGNC	e!Ensembl
173321	8950	ENSG00000124570

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

MDVLAEANGTFALNLLKTLGKDNSKNVFFSPMSMSCALAMVYMGAKGNTAAQMAQILSFN
KSGGGGDIHQGFQSLLTEVNKTGTQYLLRMANRLFGEKSCDFLSSFRDSCQKFYQAEMEE
LDFISAVEKSRKHINTWVAEKTEGKIAELLSPGSVDPLTRLVLVNAVYFRGNWDEQFDKE
NTEERLFKVSKNEEKPVQMMFKQSTFKKTYIGEIFTQILVLPYVGKELNMIIMLPDETTD
LRTVEKELTYEKFVEWTRLDMMDEEEVEVSLPRFKLEESYDMESVLRNLGMTDAFELGKA
DFSGMSQTDLSLSKVVHKSFVEVNEEGTEAAAATAAIMMMRCARFVPRFCADHPFLFFIQ
HSKTNGILFCGRFSSP

Sequence length

376

Interactions

View interactions

	KEGG		Reactome
	Amoebiasis		Neutrophil degranulation Dissolution of Fibrin Clot

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive nonsyndromic hearing loss 91	Likely pathogenic; Pathogenic	rs1225963332, rs267607037	RCV001783729 RCV000014571
Melanoma	Likely pathogenic	rs1201327476	RCV005898778
Rare genetic deafness	Likely pathogenic	rs1201327476	RCV000601975

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Likely benign	rs727505227	RCV005888555
Colon adenocarcinoma	-	rs1223476137	RCV005930238
Hearing impairment	Uncertain significance	rs2113203054	RCV001375134
SERPINB6-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	rs145397970, rs140220538, rs151200580, rs1056472461, rs201913568, rs2295766, rs144857274	RCV003965132 RCV004757137 RCV003929899 RCV003967215 RCV003900330 RCV003974877 RCV003950628
Usher syndrome	Conflicting classifications of pathogenicity	rs148530934	RCV001375306

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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

SERPINB6 (serpin family B member 6)