• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
AGPAT2 (HGNC:325) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
1-acylglycerol-3-phosphate O-acyltransferase 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
BSCL
Alias symbols
LPAAT-beta, LPLAT2
%HI
74.8(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.54(Read more about gnomAD LOEUF score)
Cytoband
9q34.3
Genomic Coordinates
GRCh37/hg19: chr9:139567595-139581909 NCBI Ensembl UCSC
GRCh38/hg38: chr9:136673143-136687457 NCBI Ensembl UCSC
MANE Select Transcript
NM_006412.4 ENST00000371696.7 (Read more about MANE Select)
Function
Converts 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone. {ECO:0000269|PubMed:15629135, ECO:0000269|PubMed:19075029, ECO:0000269|PubMed:21873652, ECO:0000269|PubMed:9242711}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-13396
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • congenital generalized lipodystrophy type 1 Monarch

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000009.11) (NC_000009.12)