TMEM94 Chromosome 17
Transmembrane protein 94
Upload your DNA to see your personal genotypes for variants in TMEM94.
What This Gene Does
Enables P-type magnesium transporter activity. Involved in magnesium ion transport from cytosol to endoplasmic reticulum. Is active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
17q25.1
Ensembl
ENSG00000177728
Associated Conditions (5)
Intellectual developmental disorder with cardiac defects and dysmorphic facies
Abnormality of the nervous system
TMEM94-related disorder
Inborn genetic diseases
Rare syndromic intellectual disability
Key Variants
RS1567950778
Likely pathogenic
Intellectual developmental disorder with cardiac defects and dysmorphic facies, Intellectual developmental disorder with cardiac defects and dysmorphic facies
Health Risk
RS2146643195
Likely pathogenic
Abnormality of the nervous system, Abnormality of the nervous system
Health Risk
RS2545865194
Likely pathogenic
TMEM94-related disorder, TMEM94-related disorder
Health Risk
RS1163944538
Pathogenic
TMEM94-related disorder, Intellectual developmental disorder with cardiac defects and dysmorphic facies, TMEM94-related disorder
Health Risk
RS1352010373
Pathogenic
TMEM94-related disorder, Intellectual developmental disorder with cardiac defects and dysmorphic facies, TMEM94-related disorder
Health Risk
RS1567985127
Pathogenic
Intellectual developmental disorder with cardiac defects and dysmorphic facies, Intellectual developmental disorder with cardiac defects and dysmorphic facies
Health Risk
RS1598394988
Pathogenic
Health Risk
RS2052209846
Pathogenic
Health Risk
RS2052296892
Pathogenic
Intellectual developmental disorder with cardiac defects and dysmorphic facies, Intellectual developmental disorder with cardiac defects and dysmorphic facies
Health Risk
RS2146620645
Pathogenic
Intellectual developmental disorder with cardiac defects and dysmorphic facies, Intellectual developmental disorder with cardiac defects and dysmorphic facies
Health Risk
RS2146831964
Pathogenic
Intellectual developmental disorder with cardiac defects and dysmorphic facies, Intellectual developmental disorder with cardiac defects and dysmorphic facies
Health Risk
RS746131112
Pathogenic
Inborn genetic diseases, Rare syndromic intellectual disability, Inborn genetic diseases
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1567950778 | Health Risk | Likely pathogenic | Intellectual developmental disorder with cardiac defects and dysmorphic facies, Intellectual developmental disorder with cardiac defects and dysmorphic facies |
| RS2146643195 | Health Risk | Likely pathogenic | Abnormality of the nervous system, Abnormality of the nervous system |
| RS2545865194 | Health Risk | Likely pathogenic | TMEM94-related disorder, TMEM94-related disorder |
| RS1163944538 | Health Risk | Pathogenic | TMEM94-related disorder, Intellectual developmental disorder with cardiac defects and dysmorphic facies, TMEM94-related disorder |
| RS1352010373 | Health Risk | Pathogenic | TMEM94-related disorder, Intellectual developmental disorder with cardiac defects and dysmorphic facies, TMEM94-related disorder |
| RS1567985127 | Health Risk | Pathogenic | Intellectual developmental disorder with cardiac defects and dysmorphic facies, Intellectual developmental disorder with cardiac defects and dysmorphic facies |
| RS1598394988 | Health Risk | Pathogenic | — |
| RS2052209846 | Health Risk | Pathogenic | — |
| RS2052296892 | Health Risk | Pathogenic | Intellectual developmental disorder with cardiac defects and dysmorphic facies, Intellectual developmental disorder with cardiac defects and dysmorphic facies |
| RS2146620645 | Health Risk | Pathogenic | Intellectual developmental disorder with cardiac defects and dysmorphic facies, Intellectual developmental disorder with cardiac defects and dysmorphic facies |
| RS2146831964 | Health Risk | Pathogenic | Intellectual developmental disorder with cardiac defects and dysmorphic facies, Intellectual developmental disorder with cardiac defects and dysmorphic facies |
| RS746131112 | Health Risk | Pathogenic | Inborn genetic diseases, Rare syndromic intellectual disability, Inborn genetic diseases |
| RS2052160365 | Health Risk | Pathogenic/Likely pathogenic | Rare syndromic intellectual disability, Intellectual developmental disorder with cardiac defects and dysmorphic facies, Rare syndromic intellectual disability |
| RS557746506 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder with cardiac defects and dysmorphic facies, Intellectual developmental disorder with cardiac defects and dysmorphic facies |