WHRN

Ciliogenesis screen results (1 screens)

• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

increased thermal nociceptive threshold

Human ciliopathy phenotype:

autosomal recessive nonsyndromic hearing loss 31

Ciliopathy associations

• Usher Syndrome

References: PMID:30831381, PMID:17171570

Subcellular localization

cilia

References: PMID:12833159, PMID:17171570, PMID:20502675, PMID:16434480, PMID:17584769, PMID:19959638, PMID:22323458

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Signaling (Hedgehog, GPCRs, ion channels)
• Transition zone

Function

DFNB31/whirlin. PDZ scaffold protein. Mutated in autosomal recessive non-syndromic deafness type 31 (12833159) and Usher syndrome type 2D (PMID:17171570) in humans (OMIM 607928). Only the whirlin long isoform (with an additional N-terminal PDZ domain) is expressed in the retina, the reti is affected if this extra PDZ domain is mutated (20502675). Interacts directly with USH2A and VLGR1 in the connecting cilium of photoreceptor cells (16434480). Colocalizes with MPP1 in the reti at the outer limiting membrane, at the outer synaptic layer and at the basal bodies and the ciliary axoneme of the connecting cilium of the photoreceptors (17584769). Interacts with L-type calcium channel subunit Ca(v)1.3 (alpha(1D) at synpase in reti (19959638). Interacts with RPGR(ORF15) in the photoreceptors (22323458)