Gene table of ATP6AP2 : ATPase H+ transporting accessory protein 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with ATP6AP2OMIM linkNumber of associated genesgenes
300911PARKINSONISM WITH SPASTICITY, X-LINKEDClinVar, OMIM link to OMIM 1ATP6AP2
PS309510MENTAL RETARDATION, X-LINKED SYNDROMICClinVar, OMIM link to OMIM 27AP1S2, PRPS1, IGBP1, RBMX, HUWE1, RAB40AL, HSD17B10, ATP6AP2, PHF8, CLIC2, CASK, TAF1, FGD1, CUL4B, PQBP1, ZDHHC9, NONO, UPF3B, SMS, HDAC8, UBE2A, MECP2, KDM5C, ARX, SLC9A6, GRIA3, PHF6

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Annotation of the gene ATP6AP2

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
Metabolism of Angiotensinogen to AngiotensinsR-HSA-20223778.98
Metabolism of proteinsR-HSA-3924993.41
Peptide hormone metabolismR-HSA-29807366.61
Associated GO terms for Molecular function
GO termGO IDGO IC
catalytic activityGO:00038241.05
enzyme bindingGO:00198992.27
molecular transducer activityGO:00600892.32
receptor activityGO:00048722.32
protein bindingGO:00055150.46
bindingGO:00054880.18