AK8 (adenylate kinase 8)

2014-11-01  

Identity

HGNC
LOCATION
9q34.13
LOCUSID
ALIAS
AK 8,C9orf98,DDX31
FUSION GENES

Other Information

Locus ID:

NCBI: 158067
MIM: 615365
HGNC: 26526
Ensembl: ENSG00000165695

Variants:

dbSNP: 158067
ClinVar: 158067
TCGA: ENSG00000165695
COSMIC: AK8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165695ENST00000298545Q96MA6

Expression (GTEx)

0
5
10
15
20
25
30
35
40

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

References

Pubmed IDYearTitleCitations
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
210809152011The characterization of human adenylate kinases 7 and 8 demonstrates differences in kinetic parameters and structural organization among the family of adenylate kinase isoenzymes.10

Citation

Dessen P

AK8 (adenylate kinase 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60221/ak8