AK9 (adenylate kinase 9)

2014-11-01  

Identity

HGNC
AK9
LOCATION
6q21
LOCUSID
221264
ALIAS
AK 9,AKD1,AKD2,C6orf199,C6orf224,dJ70A9.1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 221264
MIM: 615358
HGNC: 33814
Ensembl: ENSG00000155085

Variants:

dbSNP: 221264
ClinVar: 221264
TCGA: ENSG00000155085
COSMIC: AK9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000155085ENST00000285397Q5TCS8
ENSG00000155085ENST00000355283Q5TCS8
ENSG00000155085ENST00000368948J3KP89
ENSG00000155085ENST00000424296Q5TCS8
ENSG00000155085ENST00000448084E9PPM3
ENSG00000155085ENST00000470564H7C517
ENSG00000155085ENST00000490722H0Y8C5
ENSG00000155085ENST00000491875H7C505
ENSG00000155085ENST00000524674H0YCD1
ENSG00000155085ENST00000532976E9PPU7
ENSG00000155085ENST00000605986A0A075B7F5

Expression (GTEx)

0
5
10
15
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
Pyrimidine metabolismKEGGko00240
Purine metabolismKEGGhsa00230
Pyrimidine metabolismKEGGhsa00240
Metabolic pathwaysKEGGhsa01100
Pyrimidine ribonucleotide biosynthesis, UMP => UDP/UTP,CDP/CTPKEGGhsa_M00052
Adenine ribonucleotide biosynthesis, IMP => ADP,ATPKEGGM00049
Pyrimidine ribonucleotide biosynthesis, UMP => UDP/UTP,CDP/CTPKEGGM00052
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

References

Pubmed IDYearTitleCitations
380512882024Integrative analyses of N6-methyladenosine-associated single-nucleotide polymorphisms (m6A-SNPs) identify tumor suppressor gene AK9 in lung cancer.0
380512882024Integrative analyses of N6-methyladenosine-associated single-nucleotide polymorphisms (m6A-SNPs) identify tumor suppressor gene AK9 in lung cancer.0
377138092023Deficiency in AK9 causes asthenozoospermia and male infertility by destabilising sperm nucleotide homeostasis.0
381004192023A role for mutations in AK9 and other genes affecting ependymal cells in idiopathic normal pressure hydrocephalus.0
377138092023Deficiency in AK9 causes asthenozoospermia and male infertility by destabilising sperm nucleotide homeostasis.0
381004192023A role for mutations in AK9 and other genes affecting ependymal cells in idiopathic normal pressure hydrocephalus.0
279665432017Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations.14
279665432017Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations.14
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
206027512010Generalist genes analysis of DNA markers associated with mathematical ability and disability reveals shared influence across ages and abilities.9
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
206027512010Generalist genes analysis of DNA markers associated with mathematical ability and disability reveals shared influence across ages and abilities.9

Citation

Dessen P

AK9 (adenylate kinase 9)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60222