Entity Details

Primary name PJVK
Entity type gene
Source Source Link

Details

PrimaryID494513
RefseqGeneNG_012186
SymbolPJVK
Namepejvakin
Chromosome2
Location2q31.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2005-01-15
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPJVK_HUMAN

GO terms

Show/Hide Table
GOName
GO:0000302 response to reactive oxygen species
GO:0000425 pexophagy
GO:0005737 cytoplasm
GO:0005778 peroxisomal membrane
GO:0007605 sensory perception of sound
GO:0030864 cortical actin cytoskeleton
GO:0035253 ciliary rootlet
GO:0043025 neuronal cell body
GO:0050910 detection of mechanical stimulus involved in sensory perception of sound
GO:0097468 programmed cell death in response to reactive oxygen species
GO:0120044 stereocilium base
GO:0120045 stereocilium maintenance
GO:1900063 regulation of peroxisome organization

Diseases

Show/Hide Table
Disease IDSourceNameDescription
610220 OMIMDeafness, autosomal recessive, 59 (DFNB59)A form of sensorineural hearing impairment with absent or severely abnormal auditory brainstem response but normal otoacoustic emissions (auditory neuropathy or auditory dys-synchrony). Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
PJVKDCAF4BioGRID30945288 details