TRIOBP Chromosome 22
TRIO and F-actin binding protein
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What This Gene Does
This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008]
Gene Info
Gene Group
Pleckstrin homology domain containing
Locus Type
gene with protein product
Location
22q13.1
Ensembl
ENSG00000100106
Associated Conditions (16)
Autosomal recessive nonsyndromic hearing loss 28
TRIOBP-related disorder
Inborn genetic diseases
Malignant tumor of urinary bladder
Hearing impairment
Meniere disease
Ovarian serous cystadenocarcinoma
Thymoma
Hepatocellular carcinoma
Rare genetic deafness
Familial cancer of breast
Malignant tumor of esophagus
See cases
Nonsyndromic genetic hearing loss
Hearing loss
autosomal recessive
Key Variants
RS115800799
Conflicting classifications of pathogenicity
Health Risk
RS140901235
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
Health Risk
RS144995033
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 28, TRIOBP-related disorder, Autosomal recessive nonsyndromic hearing loss 28
Health Risk
RS148083430
Conflicting classifications of pathogenicity
Inborn genetic diseases, TRIOBP-related disorder, Malignant tumor of urinary bladder
Health Risk
RS182816010
Conflicting classifications of pathogenicity
Health Risk
RS186620158
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
Health Risk
RS191901426
Conflicting classifications of pathogenicity
Health Risk
RS199594270
Conflicting classifications of pathogenicity
Health Risk
RS199794705
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 28, TRIOBP-related disorder, Autosomal recessive nonsyndromic hearing loss 28
Health Risk
RS200045032
Conflicting classifications of pathogenicity
Hearing impairment, Autosomal recessive nonsyndromic hearing loss 28, Meniere disease
Health Risk
RS200493962
Conflicting classifications of pathogenicity
Inborn genetic diseases, TRIOBP-related disorder, Inborn genetic diseases
Health Risk
RS200528850
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
Health Risk
All Variants (113)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS772930429 | Health Risk | Pathogenic | — |
| RS773152243 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28 |
| RS777561677 | Health Risk | Pathogenic | Hearing loss, autosomal recessive, Hearing loss |
| RS997951552 | Health Risk | Pathogenic | — |
| RS1180979609 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1569034200 | Health Risk | Pathogenic/Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS1569042782 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 28, Hearing loss, autosomal recessive |
| RS375857763 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28 |
| RS575123401 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28 |
| RS750078356 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 28, Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 28 |
| RS756145453 | Health Risk | Pathogenic/Likely pathogenic | Hearing impairment, Hearing impairment |
| RS757457793 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28 |
| RS776962899 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28 |