Gene table of AFG3L2 : AFG3 like matrix AAA peptidase subunit 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with AFG3L2OMIM linkNumber of associated genesgenes
PS108600SPASTIC ATAXIAClinVar, OMIM, HUMSAVAR link to OMIM 7MTPAP, SACS, MTTP, AFG3L2, KIF1C, VAMP1, MARS2
PS164400SPINOCEREBELLAR ATAXIAClinVar, OMIM, HUMSAVAR link to OMIM 31ATXN10, ATXN2, SCYL1, PDYN, ELOVL5, PRKCG, TRPC3, ATXN8OS, NOP56, ATXN8, TBP, PPP2R2B, ELOVL4, PLEKHG4, ATXN7, AFG3L2, BEAN1, CACNA1A, ATXN1, TTBK2, KCND3, CACNA1G, TMEM240, ATXN3, KCNC3, SPTBN2, TGM6, CCDC88C, FGF14, ITPR1, EEF2

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Annotation of the gene AFG3L2

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
Associated GO terms for Molecular function
GO termGO IDGO IC
ATP-dependent peptidase activityGO:00041767.44
endopeptidase activityGO:00041753.63
purine ribonucleoside triphosphate bindingGO:00356392.22
bindingGO:00054880.18
ATPase activityGO:00168873.65
peptidase activityGO:00082333.23
nucleotide bindingGO:00001661.96
heterocyclic compound bindingGO:19013631.06
nucleoside phosphate bindingGO:19012651.96
nucleoside bindingGO:00018822.21
cation bindingGO:00431691.4
transition metal ion bindingGO:00469142.48
ATPase activity, coupledGO:00426233.97
unfolded protein bindingGO:00510825.13
ion bindingGO:00431671.36
metallopeptidase activityGO:00082374.5
ribonucleoside bindingGO:00325492.22
purine nucleotide bindingGO:00170762.19
metal ion bindingGO:00468721.41
ATP bindingGO:00055242.43
hydrolase activityGO:00167871.9
metalloendopeptidase activityGO:00042225.02
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
adenyl nucleotide bindingGO:00305542.4
carbohydrate derivative bindingGO:00973672.03
organic cyclic compound bindingGO:00971591.05
hydrolase activity, acting on acid anhydridesGO:00168173.03
pyrophosphatase activityGO:00164623.04
peptidase activity, acting on L-amino acid peptidesGO:00700113.26
adenyl ribonucleotide bindingGO:00325592.41
purine nucleoside bindingGO:00018832.22
protein bindingGO:00055150.46
purine ribonucleotide bindingGO:00325552.2
purine ribonucleoside bindingGO:00325502.22
ribonucleotide bindingGO:00325532.19
zinc ion bindingGO:00082702.66