AGK
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
AGK (HGNC:21869) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
acylglycerol kinase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
MULK
Alias symbols
FLJ10842
%HI
51.17(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.92(Read more about gnomAD LOEUF score)
Cytoband
7q34
Genomic Coordinates
GRCh37/hg19: chr7:141251210-141355044 NCBI Ensembl UCSC
GRCh38/hg38: chr7:141551410-141655244 NCBI Ensembl UCSC
MANE Select Transcript
NM_018238.4 ENST00000649286.2 (Read more about MANE Select)
Function
Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic acid (LPA) and phosphatidic acid (PA), respectively (PubMed:15939762). Does not phosphorylate sphingosine (PubMed:15939762). Phosphorylates ceramide (By similarity). Phosphorylates 1,2-dioleoylglycerol more rapidly than 2,3- dioleoylglycerol (By similarity). Independently of its lipid kinase activity, acts as a component of the TIM22 complex (PubMed:28712724, PubMed:28712726). The TIM22 complex ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-4011
ClinGen Curation ID:
CCID:006632
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
11/20/2014

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Biallelic loss of function mutations in AGK are associated with Sengers syndrome, an autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. See PMIDs: 25208612, 23266196, 22284826. There is also one report of three siblings with non-syndromic congenital cataracts with a homozygous splice site mutation, PMID:22415731.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)