2. Gene
  3. SERPINB6 - serpin family B member 6 Gene

SERPINB6 - serpin family B member 6 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as CAP; PI6; PTI; PI-6; SPI3; DFNB91; MSTP057

Gene ID: 5269 | Gene type: protein coding

About SERPINB6

Cytogenetic location: 6p25.2 Genomic coordinates (GRCh38): 6:2,948,159-2,971,793 (from NCBI)

This gene has 25 transcripts (splice variants), 87 orthologues, 36 paralogues and is associated with 2 phenotypes. Ubiquitous expression in small intestine (RPKM 25.4), testis (RPKM 22.1) and 25 other tissues.

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 hair cells of the inner ear. Mutations in this gene are associated with nonsyndromic progressive hearing loss, suggesting that this serpin plays an important role in the inner ear in the protection against leakage of lysosomal content during stress, and that loss of this protection results in cell death and sensorineural hearing loss. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]

SERPINB6 Products(11)

mRNA Protein Name
NM_001195291.3 NP_001182220.2 serpin B6 isoform b
NM_001271822.2 NP_001258751.1 serpin B6 isoform c
NM_001271823.2 NP_001258752.1 serpin B6 isoform d
NM_001271824.2 NP_001258753.1 serpin B6 isoform a
NM_001271825.2 NP_001258754.1 serpin B6 isoform a
NM_001297699.2 NP_001284628.1 serpin B6 isoform a
NM_001297700.2 NP_001284629.1 serpin B6 isoform a
NM_001374515.1 NP_001361444.1 serpin B6 isoform b
NM_001374516.1 NP_001361445.1 serpin B6 isoform a
NM_001374517.1 NP_001361446.1 serpin B6 isoform e
NM_004568.6 NP_004559.4 serpin B6 isoform a
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protease binding IPI
IPI: Inferred from physical interaction
14670919 GOA
enables serine-type endopeptidase inhibitor activity IDA
IDA: Inferred from direct assay
17761692 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cellular response to osmotic stress IMP
IMP: Inferred from mutant phenotype
20451170 GOA
involved in negative regulation of endopeptidase activity IDA
IDA: Inferred from direct assay
17761692 GOA
involved in sensory perception of sound IMP
IMP: Inferred from mutant phenotype
20451170 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
14670919 GOA
NOT located in nucleus IDA
IDA: Inferred from direct assay
14670919 GOA
part of serine protease inhibitor complex IDA
IDA: Inferred from direct assay
17761692 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SERPINB6 Protein Structure

Serpin

Serpin: Serpin (serine protease inhibitor) (7 - 376)

  • 0
  • 100
  • 200
  • 300
  • 376 a.a.
Protein Preferred Names Protein Names

serpin B6

cytoplasmic antiproteinase

Recombinant SERPINB6 Proteins

Cat. No. Product Name Accession Purity
HY-P70970 Serpin B6 Protein, Human (Trx-His) P35237 (M1-P376) ≥95%
HY-P76640 Serpin B6 Protein, Human (sf9, His) P35237 (D2-P376) ≥95%

Related Diseases

Diseases Alias
Deafness, Autosomal Recessive 91

DFNB91

Autosomal Recessive Nonsyndromic Deafness 91

Autosomal Recessive Deafness 91

Deafness, Autosomal Recessive, 91

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 91

Deafness, Autosomal Recessive, Type 91
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency
Acrorenal Syndrome
Salmonellosis

Salmonella Infections

Salmonella Infection
Paratyphoid Fever

Paratyphoid B Fever

Paratyphoid C Fever

Paratyphoid Fever A

Paratyphoid Fever B

Paratyphoid Fever C

Paratyphoid

Paratyphoid A

Paratyphoid A Fever

Paratyphoid B

Paratyphoid C

Infection Due To Salmonella Paratyphi
Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS12714 SERPINB6 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris SERPINB6 VGNC VGNC:58333
Macaca mulatta SERPINB6 VGNC VGNC:83464
Felis catus SERPINB6 VGNC VGNC:97621
Rattus norvegicus SERPINB6 RGD RGD:735108
Others SERPINB6 NCBI