Gene
vma12
- ID
- ZDB-GENE-050522-150
- Name
- vacuolar ATPase assembly factor VMA12
- Symbol
- vma12 Nomenclature History
- Previous Names
-
- tmem199 (1)
- zgc:109974
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to act upstream of or within vacuolar proton-transporting V-type ATPase complex assembly. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in endomembrane system. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation type IIp. Orthologous to human TMEM199 (transmembrane protein 199).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:109974 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital disorder of glycosylation type IIp | Alliance | Congenital disorder of glycosylation, type IIp | 616829 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR021013 | ATPase, vacuolar ER assembly factor, Vma12 |
Domain Details Per Protein
| Protein | Additional Resources | Length | ATPase, vacuolar ER assembly factor, Vma12 |
|---|---|---|---|
| UniProtKB:A8E5C6 | InterPro | 195 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
tmem199-201
(1)
|
Ensembl | 435 nt | ||
| mRNA |
tmem199-202
(1)
|
Ensembl | 863 nt |
Interactions and Pathways
No data available
Plasmids
No data available