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 enable 14-3-3 protein binding activity. Acts upstream of or within sensory perception of sound and skeletal muscle fiber development. Predicted to be located in cytoplasm; cytoskeleton; and filopodium. Is expressed in central nervous system; eye; muscle; and otic vesicle. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 21 and autosomal recessive nonsyndromic deafness 104. 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