Entity Details

Primary name GRAP
Entity type gene
Source Source Link

Details

PrimaryID10750
RefseqGene
SymbolGRAP
NameGRB2 related adaptor protein
Chromosome17
Location17p11.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-07-16
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsGRAP_HUMAN

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0007265 Ras protein signal transduction
GO:0007267 cell-cell signaling
GO:0007605 sensory perception of sound
GO:0016020 membrane
GO:0098793 presynapse

Diseases

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Disease IDSourceNameDescription
618456 OMIMDeafness, autosomal recessive, 114 (DFNB114)A form of non-syndromic deafness characterized by congenital profound sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by variants affecting the gene represented in this entry.