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MOUSE:AMPD2

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Species (Taxon ID) Mus musculus (Mouse). (10090)
Gene Name(s) Ampd2
Protein Name(s) AMP deaminase 2

AMP deaminase isoform L

External Links
UniProt Q9DBT5
EMBL AK004759
AK169980
AL671854
BC016662
BC049119
CCDS CCDS17749.1
RefSeq NP_001276648.1
NP_001276649.1
NP_083055.1
UniGene Mm.274335
Mm.487815
ProteinModelPortal Q9DBT5
SMR Q9DBT5
IntAct Q9DBT5
MINT MINT-4616236
PhosphoSite Q9DBT5
MaxQB Q9DBT5
PaxDb Q9DBT5
PRIDE Q9DBT5
Ensembl ENSMUST00000102637
ENSMUST00000102638
GeneID 109674
KEGG mmu:109674
UCSC uc008qxz.1
CTD 271
MGI MGI:88016
eggNOG COG1816
GeneTree ENSGT00390000008190
HOGENOM HOG000092200
HOVERGEN HBG050494
InParanoid Q9DBT5
KO K01490
OrthoDB EOG70ZZMQ
TreeFam TF300439
Reactome REACT_244050
UniPathway UPA00591
NextBio 362553
PRO PR:Q9DBT5
Proteomes UP000000589
Bgee Q9DBT5
CleanEx MM_AMPD2
ExpressionAtlas Q9DBT5
Genevestigator Q9DBT5
GO GO:0003876
GO:0046872
GO:0052652
GO:0097009
GO:0006188
GO:0032264
GO:0009117
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:0046034

ATP metabolic process

PMID:23911318[1]

ECO:0000316

UniProtKB:O08739


P

Figure 5F, in mouse AMPD2/3 double knockouts, there was a 26% increase in ATP levels

complete
CACAO 8507

GO:0046033

AMP metabolic process

PMID:22212473[2]

ECO:0000315

P

Table 1, AMPD2 knockout mice exhibited a significant increase in AMP levels at the age of 12 or 24 weeks.

complete
CACAO 8508

GO:0097018

renal albumin absorption

PMID:22212473[2]

ECO:0000315

P

Figure 2, AMPD2 knockout mice exhibited increased albumin content in the urine.

complete
CACAO 8510

GO:0046039

GTP metabolic process

PMID:23911318[1]

ECO:0000316

UniProtKB:O08739


P

In Figure 5f, mice AMPD2/3 double knock outs displayed a 33% decrease in GTP levels.

complete
CACAO 8525

GO:0046039

GTP metabolic process

PMID:22212473[2]

ECO:0000315

P

Table 1, AMPD2 knockout mice exhibited a significant decrease in GTP levels at the age of 12 or 24 weeks.

complete
CACAO 8526

GO:0046034

ATP metabolic process

PMID:22212473[2]

ECO:0000315

P

Table 1, AMPD2 knockout mice exhibited a significant decrease in ATP levels at the age of 12 or 24 weeks.

complete
CACAO 8527

GO:0003876

AMP deaminase activity

PMID:23911318[1]

ECO:0000315

F

Figure 5C shows significantly decreased AMP Deaminase Activity in AMPD2 knockouts.

complete
CACAO 8528

enables

GO:0003876

AMP deaminase activity

PMID:23911318[1]

ECO:0000315

mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0046034

ATP metabolic process

PMID:22212473[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0046039

GTP metabolic process

PMID:22212473[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0046039

GTP metabolic process

PMID:23911318[1]

ECO:0000316

genetic interaction evidence used in manual assertion

UniProtKB:O08739

P

Seeded From UniProt

complete

involved_in

GO:0046033

AMP metabolic process

PMID:22212473[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0046034

ATP metabolic process

PMID:23911318[1]

ECO:0000316

genetic interaction evidence used in manual assertion

UniProtKB:O08739

P

Seeded From UniProt

complete

involved_in

GO:0052652

cyclic purine nucleotide metabolic process

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q01433

P

Seeded From UniProt

complete

involved_in

GO:0046033

AMP metabolic process

PMID:21873635[3]

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

PMID:21873635[3]

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

PMID:21873635[3]

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

PMID:21873635[3]

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

acts_upstream_of_or_within

GO:0097009

energy homeostasis

PMID:23911318[1]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:5490144

P

occurs_in:(EMAPA:16894)|occurs_in:(EMAPA:16846)|occurs_in:(EMAPA:16105)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0097009

energy homeostasis

GO_REF:0000008

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q01433

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0072015

glomerular visceral epithelial cell development

PMID:25361754[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:3848348

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0052652

cyclic purine nucleotide metabolic process

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q01433

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0042632

cholesterol homeostasis

PMID:25361754[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:3848348

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0042632

cholesterol homeostasis

PMID:18974039[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:3848343

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0009117

nucleotide metabolic process

PMID:22212473[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:5490144

P

occurs_in:(EMAPA:17373)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0006188

IMP biosynthetic process

PMID:23911318[1]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:5490144

P

occurs_in:(EMAPA:16894)|occurs_in:(EMAPA:16846)|occurs_in:(EMAPA:16105)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0006188

IMP biosynthetic process

GO_REF:0000008

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q01433

P

Seeded From UniProt

complete

part_of

GO:0005829

cytosol

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q01433

C

Seeded From UniProt

complete

enables

GO:0003876

AMP deaminase activity

PMID:23911318[1]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:5490144

F

occurs_in:(EMAPA:16894)|occurs_in:(EMAPA:16846)|occurs_in:(EMAPA:16105)

Seeded From UniProt

complete

enables

GO:0003876

AMP deaminase activity

GO_REF:0000008

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q01433

F

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: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

edit table

Notes

References

See Help:References for how to manage references in GONUTS.

  1. ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 Akizu, N et al. (2013) AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell 154 505-17 PubMed GONUTS page
  2. ↑ 2.0 2.1 2.2 2.3 2.4 2.5 2.6 2.7 Toyama, K et al. (2012) Proteinuria in AMPD2-deficient mice. Genes Cells 17 28-38 PubMed GONUTS page
  3. ↑ 3.0 3.1 3.2 3.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
  4. ↑ 4.0 4.1 Helmering, J et al. (2014) A mutation in Ampd2 is associated with nephrotic syndrome and hypercholesterolemia in mice. Lipids Health Dis 13 167 PubMed GONUTS page
  5. ↑ Juan, T et al. (2009) Identification of three loci affecting HDL-cholesterol levels in a screen for chemically induced recessive mutations in mice. J. Lipid Res. 50 534-45 PubMed GONUTS page
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