DFNB31

Whirlin is a protein that in humans is encoded by the DFNB31 gene.^[5][6][7]

WHRN
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1UEZ, 1UF1, 1UFX
Identifiers
Aliases	WHRN, CIP98, PDZD7B, USH2D, WI, DFNB31, whirlin, Whirin
External IDs	OMIM: 607928; MGI: 2682003; HomoloGene: 18739; GeneCards: WHRN; OMA:WHRN - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q32 Start 114,402,080 bp[1] End 114,505,473 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 B3|4 33.97 cM Start 63,333,147 bp[2] End 63,414,228 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right adrenal cortex left adrenal gland left adrenal cortex left testis right testis pituitary gland right uterine tube anterior pituitary C1 segment body of uterus Top expressed in neural layer of retina lumbar subsegment of spinal cord interventricular septum visual cortex primary visual cortex tail of embryo thymus superior frontal gyrus cerebellar cortex Rostral migratory stream More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding protein homodimerization activity protein heterodimerization activity Cellular component cytoplasm growth cone cell projection stereocilium photoreceptor inner segment stereocilia ankle link stereocilia ankle link complex actin filament cilium photoreceptor connecting cilium stereocilium bundle stereocilium tip ciliary basal body periciliary membrane compartment USH2 complex plasma membrane soma cell junction synapse Biological process retina homeostasis sensory perception of light stimulus hearing inner ear receptor cell stereocilium organization positive regulation of gene expression cerebellar Purkinje cell layer formation establishment of protein localization auditory receptor cell stereocilium organization paranodal junction maintenance detection of mechanical stimulus involved in sensory perception of sound Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 25861 73750 Ensembl ENSG00000095397 ENSMUSG00000039137 UniProt Q9P202 Q80VW5 RefSeq (mRNA) NM_001083885 NM_001173425 NM_015404 NM_001346890 NM_001008791 NM_001008792 NM_001008793 NM_001008794 NM_001008795 NM_001008796 NM_001008797 NM_001008798 NM_001276371 NM_028640 RefSeq (protein) NP_001077354 NP_001166896 NP_001333819 NP_056219 NP_001008791 NP_001008792 NP_001008793 NP_001263300 NP_082916 Location (UCSC) Chr 9: 114.4 – 114.51 Mb Chr 4: 63.33 – 63.41 Mb PubMed search [3] [4]
Wikidata
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In rat brain, WHRN interacts with a calmodulin-dependent serine kinase, CASK, and may be involved in the formation of scaffolding protein complexes that facilitate synaptic transmission in the central nervous system (CNS).^[8] Mutations in this gene, also known as WHRN, cause autosomal recessive deafness.^[7]