AK7 (adenylate kinase 7)

2006-10-01  

Identity

HGNC
AK7
LOCATION
14q32.2
LOCUSID
122481
ALIAS
AK
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 122481
MIM: 615364
HGNC: 20091
Ensembl: ENSG00000140057

Variants:

dbSNP: 122481
ClinVar: 122481
TCGA: ENSG00000140057
COSMIC: AK7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140057ENST00000267584Q96M32
ENSG00000140057ENST00000554706H0YIY5
ENSG00000140057ENST00000555570G3V365

Expression (GTEx)

0
1
2
3
4
5
6
7
8
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

References

Pubmed IDYearTitleCitations
322515572019[Expressions of the adenylate kinase family in asthenospermia].0
322515572019[Expressions of the adenylate kinase family in asthenospermia].0
293651042018Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.47
293651042018Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.47
228010102012New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia.14
228010102012New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia.14
210809152011The characterization of human adenylate kinases 7 and 8 demonstrates differences in kinetic parameters and structural organization among the family of adenylate kinase isoenzymes.18
210809152011The characterization of human adenylate kinases 7 and 8 demonstrates differences in kinetic parameters and structural organization among the family of adenylate kinase isoenzymes.18
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
205372832010Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia.12
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
205372832010Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia.12

Citation

Dessen P

AK7 (adenylate kinase 7)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43114/haematological-explorer/case-report-explorer/js/_common.js