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AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 10555, updated on 10-Oct-2024

Summary

Official Symbol
AGPAT2provided by HGNC
Official Full Name
1-acylglycerol-3-phosphate O-acyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:325
See related
Ensembl:ENSG00000169692 MIM:603100; AllianceGenome:HGNC:325
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BSCL; BSCL1; LPAAB; LPLAT2; 1-AGPAT2; LPAAT-beta
Summary
This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Expression
Biased expression in fat (RPKM 221.4), small intestine (RPKM 55.9) and 8 other tissues See more
Orthologs
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Genomic context

See AGPAT2 in Genome Data Viewer
Location:
9q34.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (136673143..136687457, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (148906123..148920642, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139567595..139581909, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724193 Neighboring gene lncRNA EGFL7 opposite strand Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139549554-139550178 Neighboring gene EGF like domain multiple 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139563885-139564386 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139564387-139564886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139569227-139569726 Neighboring gene microRNA 126 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139573281-139573980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139573981-139574680 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139576202-139577064 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139580514-139581375 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20537 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139591540-139592050 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139592051-139592559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139607687-139608611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29321 Neighboring gene cuticle collagen 2-like Neighboring gene divergent protein kinase domain 1B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29322 Neighboring gene Sharpr-MPRA regulatory region 5701 Neighboring gene small nucleolar RNA, H/ACA box 17B Neighboring gene small nucleolar RNA host gene 7

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in specific granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
1-acyl-sn-glycerol-3-phosphate acyltransferase beta
Names
1-AGP acyltransferase 2
1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)
lysophosphatidic acid acyltransferase-beta
lysophospholipid acyltransferase 2
testicular tissue protein Li 143
NP_001012745.1
NP_006403.2
XP_047278592.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008090.1 RefSeqGene

    Range
    5003..19317
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001012727.2NP_001012745.1  1-acyl-sn-glycerol-3-phosphate acyltransferase beta isoform b

    See identical proteins and their annotated locations for NP_001012745.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b).
    Source sequence(s)
    AL590226, BC000026, BC004529, BF347518, CN407343
    Consensus CDS
    CCDS35181.1
    UniProtKB/TrEMBL
    A0A024R8F9, Q8WUW2
    Related
    ENSP00000360759.3, ENST00000371694.7
    Conserved Domains (2) summary
    cd07989
    Location:67217
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
    COG0204
    Location:26221
    PlsC; 1-acyl-sn-glycerol-3-phosphate acyltransferase [Lipid transport and metabolism]
  2. NM_006412.4NP_006403.2  1-acyl-sn-glycerol-3-phosphate acyltransferase beta isoform a

    See identical proteins and their annotated locations for NP_006403.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AF000237, AL590226, BC000026, BF347518
    Consensus CDS
    CCDS7003.1
    UniProtKB/Swiss-Prot
    O00516, O15106, O15120, Q5VUD3, Q5VUD4, Q9BSV7, Q9BWR7
    UniProtKB/TrEMBL
    Q8WUW2
    Related
    ENSP00000360761.2, ENST00000371696.7
    Conserved Domains (1) summary
    cd07989
    Location:67249
    LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    136673143..136687457 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047422636.1XP_047278592.1  1-acyl-sn-glycerol-3-phosphate acyltransferase beta isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    148906123..148920642 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)