ALPK3 (alpha kinase 3)

2014-11-01  

Identity

HGNC
LOCATION
15q25.3
LOCUSID
ALIAS
CMH27,MAK,MIDORI

Other Information

Locus ID:

NCBI: 57538
MIM: 617608
HGNC: 17574
Ensembl: ENSG00000136383

Variants:

dbSNP: 57538
ClinVar: 57538
TCGA: ENSG00000136383
COSMIC: ALPK3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136383ENST00000258888Q96L96

Expression (GTEx)

0
50
100
150
200

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
268469502016Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.15
282234222017A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy: A Classic Single-Gene Disorder.10
300460962018Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features.2
310740942019Phenotypic spectrum of ALPK3-related cardiomyopathy.1

Citation

Dessen P

ALPK3 (alpha kinase 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60266/alpk3