Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	150763
Gene name	Glycerol-3-phosphate acyltransferase 2, mitochondrial
Gene symbol	GPAT2
Synonyms (NCBI Gene)	CT123
Chromosome	2
Chromosome location	2q11.2

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003841	Function	1-acylglycerol-3-phosphate O-acyltransferase activity	IEA
GO:0003841	Function	1-acylglycerol-3-phosphate O-acyltransferase activity	ISS
GO:0004366	Function	Glycerol-3-phosphate O-acyltransferase activity	EXP	18238778
GO:0004366	Function	Glycerol-3-phosphate O-acyltransferase activity	IBA
GO:0004366	Function	Glycerol-3-phosphate O-acyltransferase activity	IEA
GO:0004366	Function	Glycerol-3-phosphate O-acyltransferase activity	ISS
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005739	Component	Mitochondrion	NAS	18658143
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005741	Component	Mitochondrial outer membrane	ISS
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0006072	Process	Glycerol-3-phosphate metabolic process	IEA
GO:0006072	Process	Glycerol-3-phosphate metabolic process	ISS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006650	Process	Glycerophospholipid metabolic process	IBA
GO:0006654	Process	Phosphatidic acid biosynthetic process	IEA
GO:0006654	Process	Phosphatidic acid biosynthetic process	ISS
GO:0006654	Process	Phosphatidic acid biosynthetic process	TAS
GO:0008374	Function	O-acyltransferase activity	IEA
GO:0008654	Process	Phospholipid biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016024	Process	CDP-diacylglycerol biosynthetic process	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0019432	Process	Triglyceride biosynthetic process	IBA
GO:0019432	Process	Triglyceride biosynthetic process	IEA
GO:0019432	Process	Triglyceride biosynthetic process	ISS
GO:0034587	Process	PiRNA processing	IEA
GO:0034587	Process	PiRNA processing	ISS

MIM	HGNC	e!Ensembl
616431	27168	ENSG00000186281

Q6NUI2

Protein name

Glycerol-3-phosphate acyltransferase 2, mitochondrial (GPAT-2) (EC 2.3.1.15) (1-acylglycerol-3-phosphate O-acyltransferase GPAT2) (EC 2.3.1.51) (xGPAT1)

Protein function

Transfers an acyl-group from acyl-ACP to the sn-1 position of glycerol-3-phosphate producing a lysophosphatidic acid (LPA), an essential step for the triacylglycerol (TAG) and glycerophospholipids. In vitro also transfers an acyl-group from acyl

Family and domains

Sequence

MATMLEGRCQTQPRSSPSGREASLWSSGFGMKLEAVTPFLGKYRPFVGRCCQTCTPKSWE
SLFHRSITDLGFCNVILVKEENTRFRGWLVRRLCYFLWSLEQHIPPCQDVPQKIMESTGV
QNLLSGRVPGGTGEGQVPDLVKKEVQRILGHIQAPPRPFLVRLFSWALLRFLNCLFLNVQ
LHKGQMKMVQKAAQAGLPLVLLSTHKTLLDGILLPFMLLSQGLGVLRVAWDSRACSPALR
ALLRKLGGLFLPPEASLSLDSSEGLLARAVVQAVIEQLLVSGQPLLIFLEEPPGALGPRL
SALGQAWVGFVVQAVQVGIVPDALLVPVAVTYDLVPDAPCDIDHASAPLGLWTGALAVLR
SLWSRWGCSHRICSRVHLAQPFSLQEYIVSARSCWGGRQTLEQLLQPIVLGQCTAVPDTE
KEQEWTPITGPLLALKEEDQLLVRRLSCHVLSASVGSSAVMSTAIMATLLLFKHQKLLGE
FSWLTEEILLRGFDVGFSGQLRSLLQHSLSLLRAHVALLRIRQGDLLVVPQPGPGLTHLA
QLSAELLPVFLSEAVGACAVRGLLAGRVPPQGPWELQGILLLSQNELYRQILLLMHLLPQ
DLLLLKPCQSSYCYCQEVLDRLIQCGLLVAEETPGSRPACDTGRQRLSRKLLWKPSGDFT
DSDSDDFGEADGRYFRLSQQSHCPDFFLFLCRLLSPLLKAFAQAAAFLRQGQLPDTELGY
TEQLFQFLQATAQEEGIFECADPKLAISAVWTFRDLGVLQQTPSPAGPRLHLSPTFASLD
NQEKLEQFIRQFICS

Sequence length

795

Interactions

View interactions

	KEGG		Reactome
	Glycerolipid metabolism Glycerophospholipid metabolism Metabolic pathways		Synthesis of PA Triglyceride biosynthesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Male infertility	Likely pathogenic	rs2466903175, rs773652573, rs192826739	RCV004573402 RCV004573408 RCV004573411	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
JUVENILE DERMATOMYOSITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adrenomyeloneuropathy	Adrenomyeloneuropathy	BEFREE	30509496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24967918, 29963267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39605002	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24967918, 29963267		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24967918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29211789, 29963267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	29885947	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

GPAT2 (glycerol-3-phosphate acyltransferase 2, mitochondrial)