Gene
vma22
- ID
- ZDB-GENE-050227-20
- Name
- vacuolar ATPase assembly factor VMA22
- Symbol
- vma22 Nomenclature History
- Previous Names
-
- ccdc115 (1)
- zgc:113121
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to enable unfolded protein binding activity. Predicted to be involved in intracellular iron ion homeostasis. Predicted to act upstream of or within vacuolar proton-transporting V-type ATPase complex assembly. Predicted to be located in endoplasmic reticulum. Predicted to be part of vacuolar proton-transporting V-type ATPase complex. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation type IIo. Orthologous to human CCDC115 (coiled-coil domain containing 115).
- 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
-
- IMAGE:6905212 (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 IIo | Alliance | Congenital disorder of glycosylation, type IIo | 616828 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR040357 | Vma22/CCDC115 |
Domain Details Per Protein
| Protein | Additional Resources | Length | Vma22/CCDC115 |
|---|---|---|---|
| UniProtKB:Q5EAR6 | InterPro | 206 | |
| UniProtKB:F1QSB2 | InterPro | 206 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ccdc115-201
(1)
|
Ensembl | 911 nt | ||
| ncRNA |
ccdc115-002
(1)
|
Ensembl | 553 nt |
Interactions and Pathways
No data available
Plasmids
No data available