SERPINB6 Chromosome 6
Serpin family B member 6
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What This Gene Does
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]
Gene Info
Gene Group
Serpin peptidase inhibitors
Locus Type
gene with protein product
Location
6p25.2
Ensembl
ENSG00000124570
Associated Conditions (5)
Autosomal recessive nonsyndromic hearing loss 91
SERPINB6-related disorder
Usher syndrome
Rare genetic deafness
Melanoma
Key Variants
RS140220538
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 91, SERPINB6-related disorder, Autosomal recessive nonsyndromic hearing loss 91
Health Risk
RS141773281
Conflicting classifications of pathogenicity
Health Risk
RS145538358
Conflicting classifications of pathogenicity
Health Risk
RS146252067
Conflicting classifications of pathogenicity
Health Risk
RS147962494
Conflicting classifications of pathogenicity
Health Risk
RS148530934
Conflicting classifications of pathogenicity
Usher syndrome, Usher syndrome
Health Risk
RS201080069
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 91, Autosomal recessive nonsyndromic hearing loss 91
Health Risk
RS201913568
Conflicting classifications of pathogenicity
SERPINB6-related disorder, SERPINB6-related disorder
Health Risk
RS35617833
Conflicting classifications of pathogenicity
Health Risk
RS370453956
Conflicting classifications of pathogenicity
Health Risk
RS370994947
Conflicting classifications of pathogenicity
Health Risk
RS727503416
Conflicting classifications of pathogenicity
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140220538 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 91, SERPINB6-related disorder, Autosomal recessive nonsyndromic hearing loss 91 |
| RS141773281 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145538358 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146252067 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147962494 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148530934 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome, Usher syndrome |
| RS201080069 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 91, Autosomal recessive nonsyndromic hearing loss 91 |
| RS201913568 | Health Risk | Conflicting classifications of pathogenicity | SERPINB6-related disorder, SERPINB6-related disorder |
| RS35617833 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370453956 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370994947 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS727503416 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS760194824 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 91, Autosomal recessive nonsyndromic hearing loss 91 |
| RS1201327476 | Health Risk | Likely pathogenic | Rare genetic deafness, Melanoma, Rare genetic deafness |
| RS1225963332 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 91, Autosomal recessive nonsyndromic hearing loss 91 |
| RS267607037 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 91, Autosomal recessive nonsyndromic hearing loss 91 |