TRPM3 Chromosome 9
Transient receptor potential cation channel subfamily M member 3
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What This Gene Does
The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Transient receptor potential cation channels|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
9q21.12-q21.13
Ensembl
ENSG00000083067
Associated Conditions (12)
Inborn genetic diseases
Seizure
Global developmental delay
Intellectual disability
Mulibrey nanism syndrome
TRPM3-related disorder
Autosomal dominant non-syndromic intellectual disability
Birk-Barel syndrome
Neurodevelopmental disorder with hypotonia
dysmorphic facies
and skeletal anomalies
with or without seizures
Key Variants
RS146800889
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS184424910
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS374070652
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS41287375
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS765032665
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2041696318
Likely pathogenic
Health Risk
RS2131863502
Likely pathogenic
Health Risk
RS2538309346
Likely pathogenic
Health Risk
RS2538309680
Likely pathogenic
Health Risk
RS1564493599
Pathogenic/Likely pathogenic
Seizure, Global developmental delay, Intellectual disability
Health Risk
RS2131863747
Pathogenic/Likely pathogenic
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146800889 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS184424910 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374070652 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS41287375 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS765032665 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2041696318 | Health Risk | Likely pathogenic | — |
| RS2131863502 | Health Risk | Likely pathogenic | — |
| RS2538309346 | Health Risk | Likely pathogenic | — |
| RS2538309680 | Health Risk | Likely pathogenic | — |
| RS1564493599 | Health Risk | Pathogenic/Likely pathogenic | Seizure, Global developmental delay, Intellectual disability |
| RS2131863747 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies |