DFNB31

Entrez Summary: This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016].
UniProt Summary: N/A

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Expression Distribution

paranodal junction maintenance
USH2 complex
stereocilia ankle link
stereocilia ankle link complex
periciliary membrane compartment
cerebellar Purkinje cell layer formation
auditory receptor cell stereocilium organization
cell-cell junction maintenance
detection of mechanical stimulus involved in sensory perception of sound
auditory receptor cell morphogenesis
cerebellar Purkinje cell layer morphogenesis
cell junction maintenance
stereocilium tip
auditory receptor cell development
cerebellar cortex formation
cerebellar Purkinje cell layer development
inner ear auditory receptor cell differentiation
inner ear receptor cell stereocilium organization
detection of mechanical stimulus involved in sensory perception
cerebellar cortex morphogenesis
stereocilium
hair cell differentiation
cerebellum morphogenesis
photoreceptor connecting cilium
hindbrain morphogenesis
inner ear receptor cell development
neuroepithelial cell differentiation
detection of mechanical stimulus
cellular component maintenance
cerebellar cortex development
photoreceptor inner segment
columnar/cuboidal epithelial cell development
inner ear receptor cell differentiation
mechanoreceptor differentiation
retina homeostasis
actin filament
columnar/cuboidal epithelial cell differentiation
inner ear morphogenesis
cerebellum development
metencephalon development