AK2 (adenylate kinase 2)

2003-05-01  

Identity

HGNC
AK2
LOCATION
1p35.1
LOCUSID
204
ALIAS
ADK2

Other Information

Locus ID:

NCBI: 204
MIM: 103020
HGNC: 362
Ensembl: ENSG00000004455

Variants:

dbSNP: 204
ClinVar: 204
TCGA: ENSG00000004455
COSMIC: AK2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000004455ENST00000354858P54819
ENSG00000004455ENST00000373449P54819
ENSG00000004455ENST00000467905F8W1A4
ENSG00000004455ENST00000480134G3V213
ENSG00000004455ENST00000487289F8VZG5
ENSG00000004455ENST00000548033F8VY04
ENSG00000004455ENST00000550338F8VPP1
ENSG00000004455ENST00000626911F8VPP1
ENSG00000004455ENST00000629371G3V213
ENSG00000004455ENST00000672715A0A140VK93

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
Thiamine metabolismKEGGko00730
Purine metabolismKEGGhsa00230
Thiamine metabolismKEGGhsa00730
Metabolic pathwaysKEGGhsa01100
Adenine ribonucleotide biosynthesis, IMP => ADP,ATPKEGGM00049
Adenine ribonucleotide biosynthesis, IMP => ADP,ATPKEGGhsa_M00049
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Synthesis and interconversion of nucleotide di- and triphosphatesREACTOMER-HSA-499943

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10005adefovir dipivoxilChemicalPathwayassociated
PA10204tenofovirChemicalPathwayassociated

References

Pubmed IDYearTitleCitations
190434162009Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness.56
190434172009Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2.50
179520612007AK2 activates a novel apoptotic pathway through formation of a complex with FADD and caspase-10.32
245489982014The DUSP26 phosphatase activator adenylate kinase 2 regulates FADD phosphorylation and cell growth.21
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
262703502015AK2 deficiency compromises the mitochondrial energy metabolism required for differentiation of human neutrophil and lymphoid lineages.12
245871212014Differential expression of adenine nucleotide converting enzymes in mitochondrial intermembrane space: a potential role of adenylate kinase isozyme 2 in neutrophil differentiation.6
294626202018Human AK2 links intracellular bioenergetic redistribution to the fate of hematopoietic progenitors.5
184045682008Acyclic phosphonate nucleotides and human adenylate kinases: impact of a borano group on alpha-P position.4
296415612018Discovery of genetic variants of the kinases that activate tenofovir among individuals in the United States, Thailand, and South Africa: HPTN067.2

Citation

Dessen P

AK2 (adenylate kinase 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/606/ak2