AKAP10 (A-kinase anchoring protein 10)

2003-05-01  

Identity

HGNC
LOCATION
17p11.2
LOCUSID
ALIAS
AKAP-10,D-AKAP-2,D-AKAP2,PRKA10
FUSION GENES

Other Information

Locus ID:

NCBI: 11216
MIM: 604694
HGNC: 368
Ensembl: ENSG00000108599

Variants:

dbSNP: 11216
ClinVar: 11216
TCGA: ENSG00000108599
COSMIC: AKAP10

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108599ENST00000225737O43572
ENSG00000108599ENST00000225737A0A0S2Z4Z7
ENSG00000108599ENST00000395536E7EMD6
ENSG00000108599ENST00000460046J3QRM7
ENSG00000108599ENST00000571858I3NI04
ENSG00000108599ENST00000572341I3L479
ENSG00000108599ENST00000576896I3L177
ENSG00000108599ENST00000578898K7EM25
ENSG00000108599ENST00000582611J3QR74
ENSG00000108599ENST00000583951J3QL61

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
201594612010Structure of D-AKAP2:PKA RI complex: insights into AKAP specificity and selectivity.48
126466972003Amino acid variant in the kinase binding domain of dual-specific A kinase-anchoring protein 2: a disease susceptibility polymorphism.33
174856782007Gene-trapped mouse embryonic stem cell-derived cardiac myocytes and human genetics implicate AKAP10 in heart rhythm regulation.29
197970562009D-AKAP2 interacts with Rab4 and Rab11 through its RGS domains and regulates transferrin receptor recycling.29
204530002010A Large-scale genetic association study of esophageal adenocarcinoma risk.23
122067842002Domain organization of D-AKAP2 revealed by enhanced deuterium exchange-mass spectrometry (DXMS).20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
169569082007The functional genetic variant Ile646Val located in the kinase binding domain of the A-kinase anchoring protein 10 is associated with familial breast cancer.16
171435572007Association of gene polymorphisms with myocardial infarction in individuals with or without conventional coronary risk factors.8
194962162009AKAP10 (I646V) functional polymorphism predicts heart rate and heart rate variability in apparently healthy, middle-aged European-Americans.7

Citation

Dessen P

AKAP10 (A-kinase anchoring protein 10)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/77/akap10