TMEM147 Chromosome 19
Transmembrane protein 147
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What This Gene Does
Enables ribosome binding activity. Involved in multi-pass transmembrane protein insertion into ER membrane and protein localization to nuclear inner membrane. Located in nuclear membrane. Part of multi-pass translocon complex. Is active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
BOS complex subunits
Locus Type
gene with protein product
Location
19q13.12
Ensembl
ENSG00000105677
Associated Conditions (10)
Neurodevelopmental disorder with facial dysmorphism
absent language
and pseudo-pelger-huet anomaly
Inborn genetic diseases
Gastric cancer
Poor speech
Severe intellectual disability
Motor delay
Abnormal facial shape
Absent speech
Key Variants
RS200901862
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
Health Risk
RS1235530554
Pathogenic
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
Health Risk
RS2514729323
Pathogenic
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
Health Risk
RS2514731335
Pathogenic
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
Health Risk
RS2514731343
Pathogenic
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
Health Risk
RS2514732396
Pathogenic
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
Health Risk
RS2514732447
Pathogenic
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
Health Risk
RS2514732927
Pathogenic
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
Health Risk
RS566519921
Pathogenic
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
Health Risk
RS781371223
Pathogenic
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
Health Risk
RS371795896
Pathogenic/Likely pathogenic
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
Health Risk
RS749966973
Pathogenic/Likely pathogenic
Poor speech, Severe intellectual disability, Motor delay
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200901862 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly |
| RS1235530554 | Health Risk | Pathogenic | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly |
| RS2514729323 | Health Risk | Pathogenic | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly |
| RS2514731335 | Health Risk | Pathogenic | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly |
| RS2514731343 | Health Risk | Pathogenic | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly |
| RS2514732396 | Health Risk | Pathogenic | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly |
| RS2514732447 | Health Risk | Pathogenic | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly |
| RS2514732927 | Health Risk | Pathogenic | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly |
| RS566519921 | Health Risk | Pathogenic | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly |
| RS781371223 | Health Risk | Pathogenic | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly |
| RS371795896 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly |
| RS749966973 | Health Risk | Pathogenic/Likely pathogenic | Poor speech, Severe intellectual disability, Motor delay |
| RS771380575 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly |