Gene table of AMPD2 : adenosine monophosphate deaminase 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with AMPD2OMIM linkNumber of associated genesgenes
PS607596PONTOCEREBELLAR HYPOPLASIAClinVar, OMIM, HUMSAVAR link to OMIM 13AMPD2, EXOSC3, CLP1, SEPSECS, TSEN34, TSEN2, PCLO, VPS53, TSEN54, KCNT1, RARS2, VRK1, CHMP1A
PS303350SPASTIC PARAPLEGIAOMIM link to OMIM 47KIF5A, ATL1, C12orf65, IBA57, GJC2, GBA2, KIAA0196, ZFYVE26, ARL6IP1, ENTPD1, AP4E1, B4GALNT1, DDHD2, C19orf12, AP5Z1, SPG11, SLC33A1, MAG, VPS37A, L1CAM, TFG, RTN2, CYP7B1, ERLIN2, KIF1A, AP4M1, AMPD2, SPAST, SPG20, AP4S1, HSPD1, SPG21, PLP1, REEP1, ALDH18A1, TECPR2, BSCL2, PNPLA6, SPG7, CYP2U1, NT5C2, NIPA1, DDHD1, CPT1C, ZFYVE27, AP4B1, FA2H

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Annotation of the gene AMPD2

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
KEGG pathwayKEGG IDKEGG IC
Metabolic pathwayshsa011002.49
Purine metabolismhsa002305.28
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Purine salvageR-HSA-742179.28
Metabolism of nucleotidesR-HSA-158696.7
MetabolismR-HSA-14307282.34
Purine metabolismR-HSA-738477.94
Associated GO terms for Molecular function
GO termGO IDGO IC
hydrolase activityGO:00167871.9
cation bindingGO:00431691.4
hydrolase activity, acting on carbon-nitrogen (but not peptide) bondsGO:00168104.76
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidinesGO:00168146.21
ion bindingGO:00431671.36
GO:00476238.64
catalytic activityGO:00038241.05
deaminase activityGO:00192396.24
bindingGO:00054880.18
protein bindingGO:00055150.46
metal ion bindingGO:00468721.41
GO:00038768.64