DFNA5

Entrez Summary: Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
UniProt Summary: Plays a role in the TP53-regulated cellular response to DNA damage probably by cooperating with TP53 (PubMed:16897187, PubMed:18223688). {ECO:0000269|PubMed:16897187, ECO:0000269|PubMed:18223688}.

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

cardiolipin binding
pyroptosis
necrotic cell death
cellular response to virus
inner ear receptor cell differentiation
mechanoreceptor differentiation
positive regulation of intrinsic apoptotic signaling pathway
phosphatidylinositol-4,5-bisphosphate binding
sensory perception of sound
regulation of intrinsic apoptotic signaling pathway
sensory perception of mechanical stimulus
positive regulation of apoptotic signaling pathway
inner ear development
ear development
cellular response to tumor necrosis factor
response to tumor necrosis factor
response to virus
regulation of apoptotic signaling pathway
positive regulation of MAPK cascade
sensory organ development
positive regulation of apoptotic process
positive regulation of programmed cell death
negative regulation of cell population proliferation
positive regulation of cell death
regulation of MAPK cascade
sensory perception
cellular response to cytokine stimulus
neuron differentiation
positive regulation of protein phosphorylation
positive regulation of intracellular signal transduction
programmed cell death
positive regulation of phosphorylation
cell death
response to cytokine
positive regulation of phosphate metabolic process
positive regulation of phosphorus metabolic process
positive regulation of protein modification process
response to other organism
response to external biotic stimulus
response to biotic stimulus