Aliases for GPAT2 Gene

Aliases for GPAT2 Gene

  • Glycerol-3-Phosphate Acyltransferase 2, Mitochondrial 2 3 4 5
  • Cancer/Testis Antigen 123 2 3
  • CT123 2 3
  • EC 2.3.1.15 4
  • GPAT-2 4
  • XGPAT1 4
  • GPAT2 5

External Ids for GPAT2 Gene

Previous GeneCards Identifiers for GPAT2 Gene

  • GC02M096052
  • GC02M096687
  • GC02M090655

Summaries for GPAT2 Gene

GeneCards Summary for GPAT2 Gene

GPAT2 (Glycerol-3-Phosphate Acyltransferase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with GPAT2 include Leber Congenital Amaurosis 1. Among its related pathways are Glycerolipid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups and glycerol-3-phosphate O-acyltransferase activity. An important paralog of this gene is GPAM.

UniProtKB/Swiss-Prot Summary for GPAT2 Gene

  • Esterifies acyl-group from acyl-ACP to the sn-1 position of glycerol-3-phosphate, an essential step in glycerolipid biosynthesis. Required for primary processing step during piRNA biosynthesis. Molecular mechanisms by which it promotes piRNA biosynthesis are unclear and do not involve its acyltransferase activity.

Additional gene information for GPAT2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GPAT2 Gene

Genomics for GPAT2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GPAT2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J096034 Promoter 0.7 EPDnew Ensembl 600.7 +4.9 4850 0.8 GPAT2 LOC105373493 lnc-ANKRD36C-4-002 lnc-ANKRD36C-4-001 lnc-GPAT2-2 ANKRD36C
GH02J096142 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 18.1 -106.8 -106808 8.2 SP1 CREB1 CTCF ZBTB33 ZNF629 POLR2A BACH1 JUND LARP7 STAT3 DUSP2 ENSG00000228873 piR-58949 GPAT2 ARID5A SNRNP200 CIAO1 TMEM127 KANSL3 GPAT2P1
GH02J096009 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 18.9 +28.9 28924 2.1 CREB1 CTCF ATF7 ZNF629 ZNF692 BACH1 PKNOX1 MTA1 PATZ1 ZNF501 FAHD2CP lnc-CIAO1-4 GPAT2 ADRA2B DUSP2 ASTL ENSG00000230747 ITPRIPL1 lnc-ANKRD36C-3 ANKRD36C
GH02J096116 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE CraniofacialAtlas 17.7 -77.2 -77150 3.2 CTCF HNRNPL BACH1 LARP7 ZNF143 REST RAD21 TRIM22 ZFX NONO ADRA2B GPAT2 FAHD2CP ASTL
GH02J096155 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 16.2 -118.6 -118589 4.2 SP1 LEF1 POLR2A BACH1 LARP7 STAT3 ZNF143 MTA2 RELA ZIC2 ADRA2B GPAT2 GPAT2P1 ARID5A DUSP2 KANSL3 TMEM127 ASTL lnc-CIAO1-3 ENSG00000228873
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GPAT2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GPAT2

Genomic Locations for GPAT2 Gene

Genomic Locations for GPAT2 Gene
chr2:96,021,946-96,039,451
(GRCh38/hg38)
Size:
17,506 bases
Orientation:
Minus strand
chr2:96,687,694-96,705,199
(GRCh37/hg19)
Size:
17,506 bases
Orientation:
Minus strand

Genomic View for GPAT2 Gene

Genes around GPAT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPAT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPAT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPAT2 Gene

Proteins for GPAT2 Gene

  • Protein details for GPAT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NUI2-GPAT2_HUMAN
    Recommended name:
    Glycerol-3-phosphate acyltransferase 2, mitochondrial
    Protein Accession:
    Q6NUI2
    Secondary Accessions:
    • Q6P2E4
    • Q6ZNI3
    • Q6ZNI5
    • Q6ZWJ4

    Protein attributes for GPAT2 Gene

    Size:
    795 amino acids
    Molecular mass:
    87835 Da
    Quaternary structure:
    • Interacts with PIWIL2.
    SequenceCaution:
    • Sequence=AAH68596.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD18392.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for GPAT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GPAT2 Gene

Post-translational modifications for GPAT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GPAT2 Gene

Domains & Families for GPAT2 Gene

Gene Families for GPAT2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for GPAT2 Gene

InterPro:
Blocks:
  • Phospholipid/glycerol acyltransferase
ProtoNet:

Suggested Antigen Peptide Sequences for GPAT2 Gene

GenScript: Design optimal peptide antigens:
  • xGPAT1 (GPAT2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6NUI2

UniProtKB/Swiss-Prot:

GPAT2_HUMAN :
  • The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate.
  • Belongs to the GPAT/DAPAT family.
Domain:
  • The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate.
Family:
  • Belongs to the GPAT/DAPAT family.
genes like me logo Genes that share domains with GPAT2: view

Function for GPAT2 Gene

Molecular function for GPAT2 Gene

UniProtKB/Swiss-Prot Function:
Esterifies acyl-group from acyl-ACP to the sn-1 position of glycerol-3-phosphate, an essential step in glycerolipid biosynthesis. Required for primary processing step during piRNA biosynthesis. Molecular mechanisms by which it promotes piRNA biosynthesis are unclear and do not involve its acyltransferase activity.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an acyl-CoA + sn-glycerol 3-phosphate = a 1-acyl-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:15325, ChEBI:CHEBI:57287, ChEBI:CHEBI:57597, ChEBI:CHEBI:57970, ChEBI:CHEBI:58342; EC=2.3.1.15; Evidence={ECO:0000250|UniProtKB:Q14DK4};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by N-ethylmaleimide (NEM).

Enzyme Numbers (IUBMB) for GPAT2 Gene

Phenotypes From GWAS Catalog for GPAT2 Gene

Gene Ontology (GO) - Molecular Function for GPAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004366 glycerol-3-phosphate O-acyltransferase activity IBA,ISS --
GO:0008374 O-acyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
GO:0102420 sn-1-glycerol-3-phosphate C16:0-DCA-CoA acyl transferase activity IEA --
genes like me logo Genes that share ontologies with GPAT2: view
genes like me logo Genes that share phenotypes with GPAT2: view

Animal Models for GPAT2 Gene

MGI Knock Outs for GPAT2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPAT2

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for GPAT2 Gene

Localization for GPAT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPAT2 Gene

Mitochondrion outer membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GPAT2 gene
Compartment Confidence
mitochondrion 4
plasma membrane 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
extracellular 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GPAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion NAS 18658143
GO:0005741 mitochondrial outer membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031966 mitochondrial membrane IBA 21873635
genes like me logo Genes that share ontologies with GPAT2: view

Pathways & Interactions for GPAT2 Gene

genes like me logo Genes that share pathways with GPAT2: view

UniProtKB/Swiss-Prot Q6NUI2-GPAT2_HUMAN

  • Pathway: Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 1/3.

Interacting Proteins for GPAT2 Gene

Gene Ontology (GO) - Biological Process for GPAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006072 glycerol-3-phosphate metabolic process IEA,ISS --
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IBA 21873635
GO:0006654 phosphatidic acid biosynthetic process TAS --
GO:0008654 phospholipid biosynthetic process IBA 21873635
genes like me logo Genes that share ontologies with GPAT2: view

No data available for SIGNOR curated interactions for GPAT2 Gene

Drugs & Compounds for GPAT2 Gene

(3) Drugs for GPAT2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hexanoyl-CoA Experimental Pharma 0
Propanoyl-CoA Experimental Pharma 0
Coenzyme A Investigational Nutra 0

(31) Additional Compounds for GPAT2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
4460-95-1
(2E)-Octenoyl-CoA
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-coenzyme A.
38795-33-4
genes like me logo Genes that share compounds with GPAT2: view

Transcripts for GPAT2 Gene

mRNA/cDNA for GPAT2 Gene

8 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPAT2

Alternative Splicing Database (ASD) splice patterns (SP) for GPAT2 Gene

No ASD Table

Relevant External Links for GPAT2 Gene

GeneLoc Exon Structure for
GPAT2

Expression for GPAT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GPAT2 Gene

Protein differential expression in normal tissues from HIPED for GPAT2 Gene

This gene is overexpressed in Plasma (26.9), Platelet (19.2), and Bone (16.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GPAT2 Gene



Protein tissue co-expression partners for GPAT2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GPAT2

SOURCE GeneReport for Unigene cluster for GPAT2 Gene:

Hs.348629

Evidence on tissue expression from TISSUES for GPAT2 Gene

  • Nervous system(4.4)
  • Heart(4.3)
genes like me logo Genes that share expression patterns with GPAT2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GPAT2 Gene

Orthologs for GPAT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GPAT2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GPAT2 30 31
  • 98.94 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GPAT2 30 31
  • 87.11 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GPAT2 30 31
  • 85.75 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gpat2 30
  • 83.31 (n)
Mouse
(Mus musculus)
Mammalia Gpat2 30 17 31
  • 82.56 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GPAT2 31
  • 65 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GPAT2 31
  • 53 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GPAT2 30 31
  • 55.61 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 46 (a)
OneToMany
-- 31
  • 33 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gpat2 30
  • 51.94 (n)
Zebrafish
(Danio rerio)
Actinopterygii gpat2 31
  • 30 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG5508 31
  • 17 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea acl-6 31
  • 18 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6605 31
  • 19 (a)
OneToMany
Species where no ortholog for GPAT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GPAT2 Gene

ENSEMBL:
Gene Tree for GPAT2 (if available)
TreeFam:
Gene Tree for GPAT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GPAT2: view image

Paralogs for GPAT2 Gene

Paralogs for GPAT2 Gene

(5) SIMAP similar genes for GPAT2 Gene using alignment to 3 proteins:

  • GPAT2_HUMAN
  • C9JYV5_HUMAN
  • E9PE95_HUMAN

Pseudogenes.org Pseudogenes for GPAT2 Gene

genes like me logo Genes that share paralogs with GPAT2: view

Variants for GPAT2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GPAT2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
771336 Benign: not provided 96,032,075(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for GPAT2 Gene

Structural Variations from Database of Genomic Variants (DGV) for GPAT2 Gene

Variant ID Type Subtype PubMed ID
dgv607e201 CNV deletion 23290073
esv3425717 CNV duplication 20981092
esv3575268 CNV gain 25503493
esv3591652 OTHER inversion 21293372
esv3591680 CNV loss 21293372
esv5003 OTHER complex 18987735
esv993391 CNV gain 20482838
nsv1135873 CNV deletion 24896259
nsv499420 OTHER inversion 21111241
nsv7322 OTHER inversion 18451855
nsv961454 CNV duplication 23825009

Variation tolerance for GPAT2 Gene

Residual Variation Intolerance Score: 65.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.69; 46.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GPAT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPAT2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPAT2 Gene

Disorders for GPAT2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GPAT2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
leber congenital amaurosis 1
  • lca1
- elite association - COSMIC cancer census association via MalaCards
Search GPAT2 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with GPAT2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GPAT2 Gene

Publications for GPAT2 Gene

  1. GPAT2, a mitochondrial outer membrane protein, in piRNA biogenesis in germline stem cells. (PMID: 23611983) Shiromoto Y … Nakano T (RNA (New York, N.Y.) 2013) 2 3
  2. Cloning and functional characterization of a novel mitochondrial N-ethylmaleimide-sensitive glycerol-3-phosphate acyltransferase (GPAT2). (PMID: 17689486) Wang S … Coleman RA (Archives of biochemistry and biophysics 2007) 2 3
  3. Glycerol-3-phosphate acyltranferase-2 behaves as a cancer testis gene and promotes growth and tumorigenicity of the breast cancer MDA-MB-231 cell line. (PMID: 24967918) Pellon-Maison M … Gonzalez-Baro MR (PloS one 2014) 3
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  5. AGPAT6 is a novel microsomal glycerol-3-phosphate acyltransferase. (PMID: 18238778) Chen YQ … Cao G (The Journal of biological chemistry 2008) 3

Products for GPAT2 Gene

Sources for GPAT2 Gene