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
Is predicted to enable 14-3-3 protein binding activity. Involved in several processes, including negative regulation of Rho guanyl-nucleotide exchange factor activity; positive regulation of cellular component organization; and regulation of leukocyte migration. 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 recessive nonsyndromic deafness 104. Orthologous to human RIPOR2 (RHO family interacting cell polarization regulator 2).
Genome Resources
Note
None
Comparative Information
Expression
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
All Phenotype Data
2 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ripor2 Human Ortholog
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
Associated With ripor2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR031780 FAM65, N-terminal
Family IPR026136 RIPOR family member 3
Family IPR033035 Rho family-interacting cell polarization regulator 2
Homologous_superfamily IPR011989 Armadillo-like helical
Homologous_superfamily IPR016024 Armadillo-type fold
Domain Details Per Protein
Protein Length Armadillo-like helical Armadillo-type fold FAM65, N-terminal Rho family-interacting cell polarization regulator 2 RIPOR family member 3
UniProtKB:Q1LU99 1083
UniProtKB:A0A2R8S0B6 1083
UniProtKB:J9JI18 999
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations