TMPRSS3 Chromosome 21
Transmembrane serine protease 3
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What This Gene Does
This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor-associated gene that is overexpressed in ovarian tumors. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
Gene Info
Gene Group
"Scavenger receptor cysteine rich domain containing|Type II transmembrane serine proteases"
Locus Type
gene with protein product
Location
21q22.3
Ensembl
ENSG00000160183
Associated Conditions (13)
Autosomal recessive nonsyndromic hearing loss 8
TMPRSS3-related disorder
Inborn genetic diseases
Gastric cancer
Waardenburg syndrome
Rare genetic deafness
Hearing impairment
Hearing loss
autosomal recessive
Monogenic hearing loss
Nonsyndromic genetic hearing loss
Ear malformation
Childhood onset hearing loss
Key Variants
RS111033261
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
Health Risk
RS111033292
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
Health Risk
RS113747896
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 8, TMPRSS3-related disorder, Autosomal recessive nonsyndromic hearing loss 8
Health Risk
RS114904237
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
Health Risk
RS115223836
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS116974943
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
Health Risk
RS137903612
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
Health Risk
RS139484231
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 8, TMPRSS3-related disorder, Gastric cancer
Health Risk
RS140443203
Conflicting classifications of pathogenicity
Health Risk
RS140614903
Conflicting classifications of pathogenicity
Waardenburg syndrome, Autosomal recessive nonsyndromic hearing loss 8, Waardenburg syndrome
Health Risk
RS141682398
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 8, TMPRSS3-related disorder, Autosomal recessive nonsyndromic hearing loss 8
Health Risk
RS142784113
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
Health Risk
All Variants (131)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1016968797 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8 |
| RS111033537 | Health Risk | Likely pathogenic | — |
| RS1158562606 | Health Risk | Likely pathogenic | — |
| RS1259173797 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8 |
| RS1301700806 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8 |
| RS1306292205 | Health Risk | Likely pathogenic | Hearing loss, autosomal recessive, Hearing loss |
| RS1333651774 | Health Risk | Likely pathogenic | Hearing loss, autosomal recessive, Monogenic hearing loss |
| RS1374533426 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8 |
| RS137853000 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 8, Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 8 |
| RS1391332906 | Health Risk | Likely pathogenic | — |
| RS1418692998 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8 |
| RS200002841 | Health Risk | Likely pathogenic | — |
| RS2052503292 | Health Risk | Likely pathogenic | — |
| RS2052544781 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8 |
| RS2146430688 | Health Risk | Likely pathogenic | Hearing impairment, Hearing impairment |
| RS2517096730 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8 |
| RS2517098842 | Health Risk | Likely pathogenic | — |
| RS2517107344 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8 |
| RS2517136697 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8 |
| RS2517137449 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8 |
| RS2517150648 | Health Risk | Likely pathogenic | — |
| RS397517368 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS763842122 | Health Risk | Likely pathogenic | — |
| RS777100179 | Health Risk | Likely pathogenic | — |
| RS781376204 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8 |
| RS972047466 | Health Risk | Likely pathogenic | — |
| RS1060499811 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8 |
| RS1205889080 | Health Risk | Pathogenic | — |
| RS1235521923 | Health Risk | Pathogenic | — |
| RS1237955948 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 8, Hearing loss, autosomal recessive |
| RS1286616401 | Health Risk | Pathogenic | TMPRSS3-related disorder, TMPRSS3-related disorder |
| RS1351236437 | Health Risk | Pathogenic | — |
| RS137852999 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 8, Hearing impairment, Autosomal recessive nonsyndromic hearing loss 8 |
| RS1429442821 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8 |
| RS145913750 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 8, Hearing loss, autosomal recessive |
| RS1601514990 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8 |
| RS199903164 | Health Risk | Pathogenic | Hearing loss, autosomal recessive, Hearing loss |
| RS201632198 | Health Risk | Pathogenic | Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 8, Rare genetic deafness |
| RS2052562532 | Health Risk | Pathogenic | — |
| RS2052672053 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8 |
| RS2052708500 | Health Risk | Pathogenic | — |
| RS2146436212 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8 |
| RS2146448317 | Health Risk | Pathogenic | — |
| RS2146452391 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8 |
| RS2146452576 | Health Risk | Pathogenic | — |
| RS2517107435 | Health Risk | Pathogenic | — |
| RS2517107846 | Health Risk | Pathogenic | — |
| RS2517112430 | Health Risk | Pathogenic | — |
| RS2517115712 | Health Risk | Pathogenic | — |
| RS2517116311 | Health Risk | Pathogenic | — |