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

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: mouse all
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Genomic context

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_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Circular RNA circ-CHI3L1.2 modulates cisplatin resistance of osteosarcoma cells via the miR-340-5p/LPAATbeta axis.
Title: Circular RNA circ-CHI3L1.2 modulates cisplatin resistance of osteosarcoma cells via the miR-340-5p/LPAATβ axis.
AGPAT2 interaction with CDP-diacylglycerol synthases promotes the flux of fatty acids through the CDP-diacylglycerol pathway.
Title: AGPAT2 interaction with CDP-diacylglycerol synthases promotes the flux of fatty acids through the CDP-diacylglycerol pathway.
A rare frameshift mutation in the AGPAT2 gene in a family from gaza with congenital generalized lipodystrophy.
Title: A rare frameshift mutation in the AGPAT2 gene in a family from gaza with congenital generalized lipodystrophy.
Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease.
Title: Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease.
Oligomers of the lipodystrophy protein seipin may co-ordinate GPAT3 and AGPAT2 enzymes to facilitate adipocyte differentiation.
Title: Oligomers of the lipodystrophy protein seipin may co-ordinate GPAT3 and AGPAT2 enzymes to facilitate adipocyte differentiation.
The findings demonstrate that AGPAT2, which is mutated in patients with congenital generalized lipodystrophy and over-expressed in different types of cancer, is a direct transcriptional target of HIF-1, suggesting that upregulation of lipid storage by HIF-1 plays an important role in adaptation and survival of cancer cells under low oxygen conditions.
Title: Expression of AGPAT2, an enzyme involved in the glycerophospholipid/triacylglycerol biosynthesis pathway, is directly regulated by HIF-1 and promotes survival and etoposide resistance of cancer cells under hypoxia.
Results show that LPAATbeta had high expression in osteosarcoma patients who received cisplatin treatment and cisplatin-resistant cancer cell lines. In vitro and in vivo studies provide evidence that LPAATB plays an important role in osteosarcoma.
Title: Silencing LPAATβ inhibits tumor growth of cisplatin-resistant human osteosarcoma in vivo and in vitro.
Data show that missense mutation c.299G>A changes serine in the acyltransferase NHX4D motif of AGPAT2, and intronic c.493-1G>C mutation destroy a splicing site that leads to exon 4 skipping and deletion of whole AGPAT2 substrate binding domain.
Title: Divergent metabolic phenotype between two sisters with congenital generalized lipodystrophy due to double AGPAT2 homozygous mutations. a clinical, genetic and in silico study.
the ability of LPAAT-beta to regulate mTOR function
Title: Lysophosphatidic acid acyltransferase beta regulates mTOR signaling.
miR-24 may play an important role in inhibiting osteosarcoma growth through suppression of LPAATbeta.
Title: MicroRNA-24 inhibits osteosarcoma cell proliferation both in vitro and in vivo by targeting LPAATβ.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital generalized lipodystrophy type 1 MedGen: C1720862 OMIM: 608594 GeneReviews: Berardinelli-Seip Congenital Lipodystrophy	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D9S1818 (e-PCR), detects polymorphism
- UniSTS:52265

AGPAT2_9138 (e-PCR)
- UniSTS:471339

RH41872 (e-PCR)
- UniSTS:86338

D9S1826 (e-PCR), detects polymorphism
- UniSTS:20356

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 1-acylglycerol-3-phosphate O-acyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 1-acylglycerol-3-phosphate O-acyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables 1-acylglycerol-3-phosphate O-acyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables 1-acylglycerol-3-phosphate O-acyltransferase activity	NAS Non-traceable Author Statement more info	PubMed
enables 1-acylglycerol-3-phosphate O-acyltransferase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in CDP-diacylglycerol biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in epidermis development	IEA Inferred from Electronic Annotation more info
involved_in phosphatidic acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidic acid biosynthetic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in phosphatidic acid biosynthetic process	TAS Traceable Author Statement more info
involved_in phospholipid metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of cytokine production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cytokine-mediated signaling pathway	IC Inferred by Curator more info	PubMed
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in triglyceride biosynthetic process	IEA Inferred from Electronic Annotation more info

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

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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

EC 2.3.1.51

NP_006403.2

EC 2.3.1.51

XP_047278592.1

EC 2.3.1.51

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

NG_008090.1 RefSeqGene

Range

5003..19317

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001012727.2 → NP_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:67 → 217

LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

COG0204
Location:26 → 221

PlsC; 1-acyl-sn-glycerol-3-phosphate acyltransferase [Lipid transport and metabolism]
NM_006412.4 → NP_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:67 → 249

LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like