Entity Details
| Primary name |
TM138_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q9NPI0 |
| EntryName | TM138_HUMAN |
| FullName | Transmembrane protein 138 |
| TaxID | 9606 |
| Evidence | evidence at transcript level |
| Length | 162 |
| SequenceStatus | complete |
| DateCreated | 2007-05-01 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cell projection |
| Vacuole membrane |
Domains
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| Domain | Name | Category | Type |
| IPR024133 | Transmembrane protein 138 | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 614465 | OMIM | Joubert syndrome 16 (JBTS16) | An autosomal recessive disorder characterized by oculomotor apraxia, variable coloboma, and rare kidney involvement. Neuroradiologically, it is characterized by an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and polydactyly. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
0 interactions
| Interactor | Partner | Sources | Publications | Link |