Entity Details

Primary name SLC44A4
Entity type gene
Source Source Link

Details

PrimaryID80736
RefseqGeneNG_023058
SymbolSLC44A4
Namesolute carrier family 44 member 4
Chromosome6
Location6p21.33
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-05-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCTL4_HUMAN

GO terms

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GOName
GO:0005886 plasma membrane
GO:0006656 phosphatidylcholine biosynthetic process
GO:0008292 acetylcholine biosynthetic process
GO:0015220 choline transmembrane transporter activity
GO:0015871 choline transport
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0022857 transmembrane transporter activity
GO:0030307 positive regulation of cell growth
GO:0030974 thiamine pyrophosphate transmembrane transport
GO:0032475 otolith formation
GO:0035675 neuromast hair cell development
GO:0055085 transmembrane transport
GO:0061526 acetylcholine secretion
GO:0070062 extracellular exosome
GO:0090422 thiamine pyrophosphate transmembrane transporter activity

Diseases

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Disease IDSourceNameDescription
617606 OMIMDeafness, autosomal dominant, 72 (DFNA72)A form of non-syndromic 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. DFNA72 primarily affects the middle frequencies. It gradually progresses to whole-frequency hearing loss. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
SLC44A4RRBP1BioGRID, IntAct30021884 details
SLC44A4HNRNPUBioGRID, IntAct30021884 details
SLC44A4DDX58BioGRID32513696 details