SERPINB6 - serpin family B member 6 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5269

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 References 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 References 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 References 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) AAH01394.1 (M1-P376) ≥ 90%, as determined by reducing SDS-PAGE.
HY-P76640 Serpin B6 Protein, Human (sf9, His) P35237 (D2-P376) ≥ 90%, as determined by reducing SDS-PAGE.

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

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 Set / 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