AMPD2 (adenosine monophosphate deaminase 2)

2006-10-01  

Identity

HGNC
AMPD2
LOCATION
1p13.3
LOCUSID
271
ALIAS
PCH9,SPG63
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
364455972023Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia.1
364455972023Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia.1
318331742020Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2.4
318331742020Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2.4
302674072019Functional genomics identifies AMPD2 as a new prognostic marker for undifferentiated pleomorphic sarcoma.8
302674072019Functional genomics identifies AMPD2 as a new prognostic marker for undifferentiated pleomorphic sarcoma.8
294638582018Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.10
305778102018NovelmiRNA-25 inhibits AMPD2 in peripheral blood mononuclear cells of patients with systemic lupus erythematosus and represents a promising novel biomarker.17
294638582018Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.10
305778102018NovelmiRNA-25 inhibits AMPD2 in peripheral blood mononuclear cells of patients with systemic lupus erythematosus and represents a promising novel biomarker.17
281688322017A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.7
281688322017A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.7
254964632015Effects of tofacitinib on nucleic acid metabolism in human articular chondrocytes.4
254964632015Effects of tofacitinib on nucleic acid metabolism in human articular chondrocytes.4
247557412014Uric 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/js/favicon/hgnc