Gene
tmem67
- ID
- ZDB-GENE-080716-1
- Name
- transmembrane protein 67
- Symbol
- tmem67 Nomenclature History
- Previous Names
-
- mks3 (1)
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Involved in cilium assembly; cilium movement; and convergent extension. Predicted to localize to MKS complex and integral component of membrane. Used to study ciliopathy and meningocele. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome (multiple); COACH syndrome; Joubert syndrome 6; Meckel syndrome 3; and nephronophthisis 11. Orthologous to human TMEM67 (transmembrane protein 67).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 16 figures from 7 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Bardet-Biedl syndrome 14 | Alliance | {Bardet-Biedl syndrome 14, modifier of} | 615991 |
| COACH syndrome | Alliance | COACH syndrome 1 | 216360 |
| Joubert syndrome 6 | Alliance | Joubert syndrome 6 | 610688 |
| Meckel syndrome 3 | Alliance | Meckel syndrome 3 | 607361 |
| nephronophthisis 11 | Alliance | Nephronophthisis 11 | 613550 |
| ?RHYNS syndrome | 602152 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Growth factor receptor cysteine-rich domain superfamily | Meckelin |
|---|---|---|---|
|
UniProtKB:A0A8M3AJ63
|
1009 | ||
|
UniProtKB:E9QB24
|
982 | ||
|
UniProtKB:A0A8M3ATH3
|
624 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
tmem67-201
(1)
|
Ensembl | 3,193 nt | ||
| ncRNA |
tmem67-002
(1)
|
Ensembl | 614 nt |
Interactions and Pathways
No data available
Plasmids
No data available