AMPD2 (adenosine monophosphate deaminase 2)

2006-10-01  

Identity

HGNC
LOCATION
1p13.3
LOCUSID
ALIAS
PCH9,SPG63
FUSION GENES

Other Information

Locus ID:

NCBI: 271
MIM: 102771
HGNC: 469
Ensembl: ENSG00000116337

Variants:

dbSNP: 271
ClinVar: 271
TCGA: ENSG00000116337
COSMIC: AMPD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116337ENST00000342115Q01433
ENSG00000116337ENST00000358729Q01433
ENSG00000116337ENST00000369840H0Y360
ENSG00000116337ENST00000476688H0YF16
ENSG00000116337ENST00000528270H0YE32
ENSG00000116337ENST00000528454Q01433
ENSG00000116337ENST00000531203E9PIJ1
ENSG00000116337ENST00000531734E9PJF6
ENSG00000116337ENST00000652975A0A590UJY6
ENSG00000116337ENST00000655992A0A590UK85
ENSG00000116337ENST00000659122A0A590UJX5
ENSG00000116337ENST00000663749A0A590UK60
ENSG00000116337ENST00000667949Q01433
ENSG00000116337ENST00000667949A0A024R098
ENSG00000116337ENST00000668421A0A590UJD1

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Purine metabolismKEGGhsa00230
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Purine metabolismREACTOMER-HSA-73847
Purine salvageREACTOMER-HSA-74217

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
239113182013AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.32
247557412014Uric acid-dependent inhibition of AMP kinase induces hepatic glucose production in diabetes and starvation: evolutionary implications of the uricase loss in hominids.32
199489752009Integrative predictive model of coronary artery calcification in atherosclerosis.13
305778102018NovelmiRNA-25 inhibits AMPD2 in peripheral blood mononuclear cells of patients with systemic lupus erythematosus and represents a promising novel biomarker.10
281688322017A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.6
184938422008Expression patterns of AMP-deaminase isozymes in human hepatocellular carcinoma (HCC).4
254964632015Effects of tofacitinib on nucleic acid metabolism in human articular chondrocytes.4
127450922003N-terminal extensions of the human AMPD2 polypeptide influence ATP regulation of isoform L.2
294638582018Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.2
302674072019Functional genomics identifies AMPD2 as a new prognostic marker for undifferentiated pleomorphic sarcoma.1

Citation

Dessen P

AMPD2 (adenosine monophosphate deaminase 2)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43119/ampd2