Gene table of ATP8A2 : ATPase phospholipid transporting 8A2

Gene-disease associations table

Disease IDDisease nameSource of annotation with ATP8A2OMIM linkNumber of associated genesgenes
PS224050CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUMClinVar, OMIM, HUMSAVAR link to OMIM 4VLDLR, WDR81, CA8, ATP8A2

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Annotation of the gene ATP8A2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Ion channel transportR-HSA-9837125.34
Ion transport by P-type ATPasesR-HSA-9368377.46
Transmembrane transport of small moleculesR-HSA-3825513.79
Associated GO terms for Molecular function
GO termGO IDGO IC
purine ribonucleoside triphosphate bindingGO:00356392.22
phospholipid-translocating ATPase activityGO:00040126.97
bindingGO:00054880.18
ATPase activityGO:00168873.65
nucleotide bindingGO:00001661.96
heterocyclic compound bindingGO:19013631.06
nucleoside phosphate bindingGO:19012651.96
nucleoside bindingGO:00018822.21
phospholipid transporter activityGO:00055485.87
cation bindingGO:00431691.4
ATPase activity, coupledGO:00426233.97
magnesium ion bindingGO:00002874.41
ion bindingGO:00431671.36
purine nucleoside bindingGO:00018832.22
ribonucleoside bindingGO:00325492.22
purine nucleotide bindingGO:00170762.19
metal ion bindingGO:00468721.41
ATP bindingGO:00055242.43
lipid transporter activityGO:00053195.03
hydrolase activityGO:00167871.9
transporter activityGO:00052152.57
nucleoside-triphosphatase activityGO:00171113.09
small molecule bindingGO:00360941.89
catalytic activityGO:00038241.05
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydridesGO:00168183.03
substrate-specific transporter activityGO:00228922.72
adenyl nucleotide bindingGO:00305542.4
carbohydrate derivative bindingGO:00973672.03
organic cyclic compound bindingGO:00971591.05
ATPase activity, coupled to movement of substancesGO:00434924.93
hydrolase activity, acting on acid anhydridesGO:00168173.03
pyrophosphatase activityGO:00164623.04
adenyl ribonucleotide bindingGO:00325592.41
purine ribonucleotide bindingGO:00325552.2
purine ribonucleoside bindingGO:00325502.22
ribonucleotide bindingGO:00325532.19