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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
206027512010Generalist genes analysis of DNA markers associated with mathematical ability and disability reveals shared influence across ages and abilities.6
279665432017Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations.3

Citation

Dessen P

AK9 (adenylate kinase 9)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60222/ak9