TMEM127 Chromosome 2
Transmembrane protein 127
Upload your DNA to see your personal genotypes for variants in TMEM127.
What This Gene Does
This gene encodes a transmembrane protein with four predicted transmembrane domains. The protein is associated with a subpopulation of vesicular organelles corresponding to early endosomal structures, with the Golgi, and with lysosomes, and may participate in protein trafficking between these structures. Mutations in this gene and several other genes cause pheochromocytomas. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2022]
Associated Conditions (11)
Hereditary cancer-predisposing syndrome
Hereditary pheochromocytoma and paraganglioma
Pheochromocytoma
TMEM127-related disorder
Ovarian cancer
susceptibility to
Acute myeloid leukemia
Hereditary cancer
Inherited phaeochromocytoma and paraganglioma excluding NF1
TMEM127-related tumor predisposition
Lymphoma
Key Variants
RS1268280072
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
Health Risk
RS1356874783
Conflicting classifications of pathogenicity
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
Health Risk
RS1392614291
Conflicting classifications of pathogenicity
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
Health Risk
RS1406470818
Conflicting classifications of pathogenicity
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Pheochromocytoma
Health Risk
RS140860906
Conflicting classifications of pathogenicity
Pheochromocytoma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
Health Risk
RS143522428
Conflicting classifications of pathogenicity
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
Health Risk
RS144659242
Conflicting classifications of pathogenicity
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, TMEM127-related disorder
Health Risk
RS1553436865
Conflicting classifications of pathogenicity
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
Health Risk
RS1684144086
Conflicting classifications of pathogenicity
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
Health Risk
RS1684145823
Conflicting classifications of pathogenicity
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
Health Risk
RS1684391372
Conflicting classifications of pathogenicity
Pheochromocytoma, Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
Health Risk
RS1684392721
Conflicting classifications of pathogenicity
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
Health Risk
All Variants (114)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121908822 | Health Risk | Pathogenic/Likely pathogenic | Pheochromocytoma, Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome |
| RS121908826 | Health Risk | Pathogenic/Likely pathogenic | Pheochromocytoma, susceptibility to, Hereditary pheochromocytoma and paraganglioma |
| RS121908830 | Health Risk | Pathogenic/Likely pathogenic | Pheochromocytoma, susceptibility to, Hereditary cancer-predisposing syndrome |
| RS1553436874 | Health Risk | Pathogenic/Likely pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma |
| RS1558752379 | Health Risk | Pathogenic/Likely pathogenic | Hereditary pheochromocytoma and paraganglioma, Pheochromocytoma, Hereditary cancer-predisposing syndrome |
| RS1684148846 | Health Risk | Pathogenic/Likely pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma |
| RS1684169953 | Health Risk | Pathogenic/Likely pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma |
| RS2104307293 | Health Risk | Pathogenic/Likely pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma |
| RS2467263792 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome |
| RS2467264375 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2467285734 | Health Risk | Pathogenic/Likely pathogenic | Hereditary pheochromocytoma and paraganglioma, Pheochromocytoma, Hereditary pheochromocytoma and paraganglioma |
| RS727503490 | Health Risk | Pathogenic/Likely pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma |
| RS774322340 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS780133289 | Health Risk | Pathogenic/Likely pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Pheochromocytoma |