Gene

whrnb

ID
ZDB-GENE-060526-377
Name
whirlin b
Symbol
whrnb Nomenclature History
Previous Names
  • dfnb31b (1)
  • si:rp71-10d23.1 (1)
Type
protein_coding_gene
Location
Chr: 5 Mapping Details/Browsers
Description
Predicted to be involved in sensory perception of sound. Predicted to colocalize with photoreceptor connecting cilium and photoreceptor inner segment. Human ortholog(s) of this gene implicated in Usher syndrome type 2D; autosomal recessive nonsyndromic deafness 31; and sensorineural hearing loss. Is expressed in hair cell. Orthologous to human WHRN (whirlin).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Blanco-Sánchez et al., 2014
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With whrnb Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal recessive nonsyndromic deafness 31 Alliance Deafness, autosomal recessive 31 607084
Usher syndrome type 2D Alliance Usher syndrome, type 2D 611383
Associated With whrnb Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001478 PDZ domain
Family IPR033028 Whirlin
Homologous_superfamily IPR036034 PDZ superfamily
Domain Details Per Protein
Protein Length PDZ domain PDZ superfamily Whirlin
UniProtKB:F1R807 946
UniProtKB:F1R0L2 886
UniProtKB:A0A0R4I9P6 174
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