HUMAN:AMPD2

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	AMPD2
Protein Name(s)	AMP deaminase 2 AMP deaminase isoform L
External Links
UniProt	Q01433
EMBL	M91029 M91029 S47833 U16267 U16268 U16269 U16270 U16272 U16271 U16272 U16271 U16272 U16271 AK296394 AK302939 AL355310 AL355310 CH471122 CH471122 CH471122 BC007711 BC075844
CCDS	CCDS30796.1 CCDS58016.1 CCDS804.1 CCDS805.1
PIR	A44313 S59994 S59995 S59998 S59999 S60000
RefSeq	NP_001244289.1 NP_001244290.1 NP_004028.3 NP_631895.1 NP_981949.1 XP_005270809.1
UniGene	Hs.82927
ProteinModelPortal	Q01433
SMR	Q01433
BioGrid	106768
IntAct	Q01433
BindingDB	Q01433
ChEMBL	CHEMBL2997
PhosphoSite	Q01433
DMDM	12644375
MaxQB	Q01433
PaxDb	Q01433
PRIDE	Q01433
Ensembl	ENST00000256578 ENST00000342115 ENST00000358729 ENST00000393688 ENST00000528454 ENST00000528667
GeneID	271
KEGG	hsa:271
UCSC	uc001dyb.2 uc001dyc.2 uc001dyd.1 uc010ovr.1
CTD	271
GeneCards	GC01P110162
HGNC	HGNC:469
HPA	HPA027137 HPA045760 HPA050590
MIM	102771 615686 615809
neXtProt	NX_Q01433
Orphanet	401805 369920
PharmGKB	PA24777
eggNOG	COG1816
GeneTree	ENSGT00390000008190
HOVERGEN	HBG050494
InParanoid	Q01433
KO	K01490
OMA	RYETLCQ
OrthoDB	EOG70ZZMQ
PhylomeDB	Q01433
TreeFam	TF300439
BioCyc	MetaCyc:HS04008-MONOMER
Reactome	REACT_1923
SABIO-RK	Q01433
UniPathway	UPA00591
ChiTaRS	AMPD2
GeneWiki	AMPD2
GenomeRNAi	271
NextBio	1065
PRO	PR:Q01433
Proteomes	UP000005640
Bgee	Q01433
ExpressionAtlas	Q01433
Genevestigator	Q01433
GO	GO:0005829 GO:0003876 GO:0046872 GO:0052652 GO:0097009 GO:0006188 GO:0032264 GO:0055086 GO:0006144 GO:0043101 GO:0044281
InterPro	IPR006650 IPR001365 IPR006329 IPR029749
PANTHER	PTHR11359 PTHR11359:SF3
Pfam	PF00962
PIRSF	PIRSF001251
TIGRFAMs	TIGR01429
PROSITE	PS00485

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
	GO:0003876	AMP deaminase activity	PMID:23911318	ECO:0000315			F		Figure 2E, patients with lack of AMPD2 showed loss of deaminase activity	complete CACAO 8505
involved_in	GO:0052652	cyclic purine nucleotide metabolic process	PMID:23911318	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0003876	AMP deaminase activity	PMID:8764830	ECO:0000303	author statement without traceable support used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0046033	AMP metabolic process		ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1096344 MGI:MGI:88016 PANTHER:PTN000144579	P		Seeded From UniProt	complete
involved_in	GO:0006188	IMP biosynthetic process		ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1096344 MGI:MGI:88016 PANTHER:PTN000144579 UniProtKB:Q01433 dictyBase:DDB_G0292266	P		Seeded From UniProt	complete
part_of	GO:0005829	cytosol		ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000144579 TAIR:locus:2042902 UniProtKB:Q01433	C		Seeded From UniProt	complete
enables	GO:0003876	AMP deaminase activity		ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1096344 MGI:MGI:88016 PANTHER:PTN000144579 PomBase:SPBC106.04 RGD:2111 SGD:S000004498 TAIR:locus:2042902 UniProtKB:P23109 UniProtKB:Q01432 UniProtKB:Q01433 dictyBase:DDB_G0292266	F		Seeded From UniProt	complete
involved_in	GO:0097009	energy homeostasis	PMID:23911318	ECO:0000316	genetic interaction evidence used in manual assertion	SGD:S000004498	P		Seeded From UniProt	complete
involved_in	GO:0006188	IMP biosynthetic process	PMID:23911318	ECO:0000316	genetic interaction evidence used in manual assertion	SGD:S000004498	P		Seeded From UniProt	complete
enables	GO:0003876	AMP deaminase activity	PMID:23911318	ECO:0000316	genetic interaction evidence used in manual assertion	SGD:S000004498	F		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0003876	AMP deaminase activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR006329 InterPro:IPR029749	F		Seeded From UniProt	complete
involved_in	GO:0009168	purine ribonucleoside monophosphate biosynthetic process	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR006650	P		Seeded From UniProt	complete
enables	GO:0019239	deaminase activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001365 InterPro:IPR006650	F		Seeded From UniProt	complete
involved_in	GO:0032264	IMP salvage	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR006329 InterPro:IPR029749	P		Seeded From UniProt	complete
enables	GO:0003876	AMP deaminase activity	GO_REF:0000003	ECO:0000501	evidence used in automatic assertion	EC:3.5.4.6	F		Seeded From UniProt	complete
involved_in	GO:0043101	purine-containing compound salvage	Reactome:R-HSA-74217	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	Reactome:R-HSA-76590	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0009117	nucleotide metabolic process	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0546	P		Seeded From UniProt	complete
enables	GO:0046872	metal ion binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0479	F		Seeded From UniProt	complete
enables	GO:0016787	hydrolase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0378	F		Seeded From UniProt	complete
involved_in	GO:0032264	IMP salvage	GO_REF:0000041	ECO:0000322	imported manually asserted information used in automatic assertion	UniPathway:UPA00591	P		Seeded From UniProt	complete
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References

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