TMEM240 - transmembrane protein 240 Gene
Also Known as SCA21; C1orf70
Species: Homo sapiens
About TMEM240
This gene has 3 transcripts (splice variants), 211 orthologues and is associated with 3 phenotypes. Biased expression in brain (RPKM 2.8), endometrium (RPKM 1.2) and 13 other tissues.
Summary
This gene encodes a transmembrane-domain containing protein found in the brain and cerebellum. Mutations in this gene result in spinocerebellar ataxia 21. [provided by RefSeq, Dec 2014]
TMEM240 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_001114748.2 | NP_001108220.1 | transmembrane protein 240 |
TMEM240 Protein Structure
TMEM240: TMEM240 family (1 - 173)
- 0
- 100
- 173 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
transmembrane protein 240 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Spinocerebellar Ataxia 21 |
|
|
| Cerebellar Ataxia Type 43 |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
|
| Cerebellar Ataxia Type 47 |
|
|
| Cerebellar Ataxia Type 48 |
|
|
| Spinocerebellar Ataxia 25 |
|
|
| Hereditary Ataxia |
|
|
| Spinocerebellar Ataxia, X-Linked 1 |
|
|
| Boucher-Neuhauser Syndrome |
|
|
| Spinocerebellar Ataxia 23 |
|
|
| Cerebellar Ataxia Type 41 |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
|
| Spinocerebellar Ataxia 20 |
|
|
| Spinocerebellar Ataxia 14 |
|
|
| X-Linked Cerebellar Ataxia |
|
|
| Spinocerebellar Ataxia 18 |
|
|
| Schindler Disease |
|
|
| Spinocerebellar Ataxia, X-Linked 5 |
|
|
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
|
| Autosomal Dominant Cerebellar Ataxia |
|
|
| Cerebellar Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | TMEM240 | MGD | MGI:3648074 |
| Bos taurus | TMEM240 | VGNC | VGNC:36051 |
| Rattus norvegicus | TMEM240 | RGD | RGD:2318117 |
| Canis familiaris | TMEM240 | VGNC | VGNC:47548 |
| Felis catus | TMEM240 | VGNC | VGNC:66324 |
| Others | TMEM240 | NCBI |