AKAP6 (A-kinase anchoring protein 6)

2007-04-01  

Identity

HGNC
AKAP6
LOCATION
14q12
LOCUSID
9472
ALIAS
ADAP100,ADAP6,AKAP100,PRKA6,mAKAP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9472
MIM: 604691
HGNC: 376
Ensembl: ENSG00000151320

Variants:

dbSNP: 9472
ClinVar: 9472
TCGA: ENSG00000151320
COSMIC: AKAP6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000151320ENST00000280979Q13023
ENSG00000151320ENST00000553547G3V3H2
ENSG00000151320ENST00000554410G3V3H6
ENSG00000151320ENST00000554740H0YJT7
ENSG00000151320ENST00000556638G3V569
ENSG00000151320ENST00000557102G3V3B5
ENSG00000151320ENST00000557272G3V3H7
ENSG00000151320ENST00000557354Q13023

Expression (GTEx)

0
5
10
15
20
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

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
210796072011A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa.67
201069662010cAMP-stimulated protein phosphatase 2A activity associated with muscle A kinase-anchoring protein (mAKAP) signaling complexes inhibits the phosphorylation and activity of the cAMP-specific phosphodiesterase PDE4D3.48
191092402008mAKAP compartmentalizes oxygen-dependent control of HIF-1alpha.33
206770142010An approach based on a genome-wide association study reveals candidate loci for narcolepsy.16
224841552012Myocyte enhancer factor 2 (MEF2) tethering to muscle selective A-kinase anchoring protein (mAKAP) is necessary for myogenic differentiation.11
238066562013Protein kinase A and phosphodiesterase-4D3 binding to coding polymorphisms of cardiac muscle anchoring protein (mAKAP).10
265637782015AKAP6 inhibition impairs myoblast differentiation and muscle regeneration: Positive loop between AKAP6 and myogenin.6
299797932018Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility.6
280674622017Association of AKAP6 and MIR2113 with cognitive performance in a population-based sample of older adults.3
296008992018Human muscle-specific A-kinase anchoring protein polymorphisms modulate the susceptibility to cardiovascular diseases by altering cAMP/PKA signaling.3

Citation

Dessen P

AKAP6 (A-kinase anchoring protein 6)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47276/akap6