Gene
marveld2a
- ID
- ZDB-GENE-050411-59
- Name
- MARVEL domain containing 2a
- Symbol
- marveld2a Nomenclature History
- Previous Names
-
- im:7150613
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to be involved in bicellular tight junction assembly. Predicted to act upstream of or within cell-cell junction organization and sensory perception of sound. Predicted to be located in plasma membrane and tricellular tight junction. Predicted to be active in apical plasma membrane; bicellular tight junction; and cytoplasmic vesicle. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 49. Orthologous to human MARVELD2 (MARVEL domain containing 2).
- 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:7150613 (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 |
|---|---|---|---|
| autosomal recessive nonsyndromic deafness 49 | Alliance | Deafness, autosomal recessive 49 | 610153 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | ELL/occludin family | Marvel domain | Occludin homology domain |
|---|---|---|---|---|
|
UniProtKB:F1QIE2
|
545 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
marveld2a-201
(1)
|
Ensembl | 5,684 nt | ||
| mRNA |
marveld2a-202
(1)
|
Ensembl | 2,618 nt |
Interactions and Pathways
No data available
Plasmids
No data available