AGPAT2 |
- 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)