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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
transmembrane protein 231
Summary
- Gene Symbol
-
- TMEM231
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Cell membrane
- Cilium
- Cilium biogenesis/degradation
- Disease variant
- Glycoprotein
- Joubert syndrome
- Meckel syndrome
- Reference proteome
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9H6L2 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| smoothened signaling pathway | ||
| regulation of protein localization | ||
| cilium assembly | ||
| camera-type eye development | ||
| vasculature development |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| MKS complex | ||
| ciliary membrane | ||
| ciliary transition zone |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- transmembrane protein
- Functional Category
-
- C: Energy production and conversion
- G: Carbohydrate transport and metabolism
- O: Posttranslational modification, protein turnover, chaperones
| InterPro |
|---|
| Transmembrane protein 231 |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050778 | Meckel syndrome | |
| DOID:0110989 | Joubert syndrome 20 | |
| DOID:4501 | orofaciodigital syndrome |
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 33771 | FB:FBgn0031707 | |||
| 188913 | WB:WBGene00020825 | |||
| 234740 | MGI:2685024 | MOUSE58500 | ||
| 361410 | RGD:1306153 | RATNO15248 | ||
| 393358 | ZFIN:ZDB-GENE-040426-1386 | DANRE26793 | ||
| 479647 | CANLF15943 | |||
| 511832 | BOVIN10160 | |||
| 100069019 | HORSE31536 | |||
| 100145127 | Xenbase:XB-GENE-1011804 | |||
| 100172341 | 9601_0:004089 | PONAB10938 |
