Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 271
MIM: 102771
HGNC: 469
Ensembl: ENSG00000116337
Variants:
dbSNP: 271
ClinVar: 271
TCGA: ENSG00000116337
COSMIC: AMPD2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36445597 | 2023 | Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia. | 1 |
| 36445597 | 2023 | Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia. | 1 |
| 31833174 | 2020 | Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2. | 4 |
| 31833174 | 2020 | Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2. | 4 |
| 30267407 | 2019 | Functional genomics identifies AMPD2 as a new prognostic marker for undifferentiated pleomorphic sarcoma. | 8 |
| 30267407 | 2019 | Functional genomics identifies AMPD2 as a new prognostic marker for undifferentiated pleomorphic sarcoma. | 8 |
| 29463858 | 2018 | Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9. | 10 |
| 30577810 | 2018 | NovelmiRNA-25 inhibits AMPD2 in peripheral blood mononuclear cells of patients with systemic lupus erythematosus and represents a promising novel biomarker. | 17 |
| 29463858 | 2018 | Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9. | 10 |
| 30577810 | 2018 | NovelmiRNA-25 inhibits AMPD2 in peripheral blood mononuclear cells of patients with systemic lupus erythematosus and represents a promising novel biomarker. | 17 |
| 28168832 | 2017 | A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9. | 7 |
| 28168832 | 2017 | A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9. | 7 |
| 25496463 | 2015 | Effects of tofacitinib on nucleic acid metabolism in human articular chondrocytes. | 4 |
| 25496463 | 2015 | Effects of tofacitinib on nucleic acid metabolism in human articular chondrocytes. | 4 |
| 24755741 | 2014 | Uric acid-dependent inhibition of AMP kinase induces hepatic glucose production in diabetes and starvation: evolutionary implications of the uricase loss in hominids. | 76 |
Citation
Dessen P
AMPD2 (adenosine monophosphate deaminase 2)
Atlas Genet Cytogenet Oncol Haematol. 2006-10-01
Online version: http://atlasgeneticsoncology.org/gene/43119/ampd2
