Family

Whirlin (IPR033028)

Short name: Whirlin

Overlapping homologous superfamilies

None.

Family relationships

None.

Description

Whirlin (also known as DFNB31) is a PDZ-scaffold protein that plays an indispensable role in the cochlea and retina. It is involved in vestibular and auditory hair cell transduction, and is also expressed by proprioceptive sensory neurons (pSNs) in dorsal root ganglia in mice [PMID: 25698744]. It has been shown to act as a cytoskeletal linker to ensure proper paranodal compaction and stabilization of the axonal cytoskeleton in myelinated axons [PMID: 24011083].

Mutations in the whirlin gene cause retinal degeneration and hearing loss in Usher syndrome type II (USH2) and non-syndromic deafness, DFNB31 [PMID: 22048959, PMID: 26420843].

GO terms

Biological Process

GO:0050953 sensory perception of light stimulus
GO:0007605 sensory perception of sound

Molecular Function

No terms assigned in this category.

Cellular Component

No terms assigned in this category.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER