Gene
ripor2
- ID
- ZDB-GENE-060503-342
- Name
- RHO family interacting cell polarization regulator 2
- Symbol
- ripor2 Nomenclature History
- Previous Names
-
- fam65b (1)
- si:dkey-218n20.1
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to have 14-3-3 protein binding activity. Involved in sensory perception of sound and skeletal muscle fiber development. Predicted to localize to cytoplasm; cytoskeleton; and filopodium. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 104. Is expressed in central nervous system; eye; muscle; and otic vesicle. Orthologous to human RIPOR2 (RHO family interacting cell polarization regulator 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant nonsyndromic deafness 21 | Alliance | Deafness, autosomal dominant 21 | 607017 |
| autosomal recessive nonsyndromic deafness 104 | Alliance | ?Deafness, autosomal recessive 104 | 616515 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Armadillo-like helical | Armadillo-type fold | FAM65, N-terminal | RIPOR family member 3 |
|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PRN0
|
1033 | ||||
|
UniProtKB:A0A8M9PND7
|
999 | ||||
|
UniProtKB:Q1LU99
|
1083 | ||||
|
UniProtKB:A0A8M3AVL4
|
1022 | ||||
|
UniProtKB:A0A8M2B6I2
|
1034 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ripor2-201
(1)
|
Ensembl | 3,319 nt | ||
| mRNA |
ripor2-202
(1)
|
Ensembl | 3,738 nt |
Interactions and Pathways
No data available
Plasmids
No data available