PALM2AKAP2 (PALM2 and AKAP2 fusion)

2019-05-01  

Identity

LOCATION
9q31.3
LOCUSID
ALIAS
AKAP-2,AKAP-KL,AKAP2,AKAPKL,MISP2,PALM2,PALM2-AKAP2,PRKA2

Other Information

Locus ID:

NCBI: 445815
MIM: 604582
HGNC: 33529
Ensembl: ENSG00000157654

Variants:

dbSNP: 445815
ClinVar: 445815
TCGA: ENSG00000157654
COSMIC: PALM2AKAP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157654ENST00000259318Q9Y2D5
ENSG00000157654ENST00000314527Q8IXS6
ENSG00000157654ENST00000374525Q9Y2D5
ENSG00000157654ENST00000374531Q8IXS6
ENSG00000157654ENST00000413420B1ALY0
ENSG00000157654ENST00000434623Q9Y2D5
ENSG00000157654ENST00000480388C9JVY5
ENSG00000157654ENST00000483909C9JA33
ENSG00000157654ENST00000495980F8WF36
ENSG00000157654ENST00000497711C9JZH4

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
198935842010Identification of 15 loci influencing height in a Korean population.41
203062912010A three-stage genome-wide association study of general cognitive ability: hunting the small effects.36
126466972003Amino acid variant in the kinase binding domain of dual-specific A kinase-anchoring protein 2: a disease susceptibility polymorphism.33
189786782008Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.21
186493582008Replication of a genome-wide case-control study of esophageal squamous cell carcinoma.6
172737912007The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies.0
264324692016A-kinase anchoring protein 2 is required for calcitonin-mediated invasion of cancer cells.0
269890892016AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis.0
288383142017Lack of association between AKAP2 and the susceptibility of adolescent idiopathic scoliosis in the Chinese population.0

Citation

Dessen P

PALM2AKAP2 (PALM2 and AKAP2 fusion)

Atlas Genet Cytogenet Oncol Haematol. 2019-05-01

Online version: http://atlasgeneticsoncology.org/gene/58009/palm2akap2