Aliases for MBOAT2 Gene

Aliases for MBOAT2 Gene

  • Membrane Bound O-Acyltransferase Domain Containing 2 2 3 5
  • Membrane-Bound O-Acyltransferase Domain-Containing Protein 2 3 4
  • O-Acyltransferase (Membrane Bound) Domain Containing 2 2 3
  • 1-Acylglycerophosphoethanolamine O-Acyltransferase 3 4
  • Lysophosphatidylethanolamine Acyltransferase 3 4
  • 1-Acylglycerophosphate O-Acyltransferase 3 4
  • Lysophosphatidic Acid Acyltransferase 3 4
  • Lysophospholipid Acyltransferase 2 3 4
  • Lyso-PA Acyltransferase 3 4
  • Lyso-PE Acyltransferase 3 4
  • LPLAT 2 3 4
  • LPAAT 3 4
  • LPEAT 3 4
  • OACT2 3 4
  • O-Acyltransferase Domain-Containing Protein 2 4
  • EC 2.3.1.51 4
  • EC 2.3.1.n7 4
  • EC 2.3.1.- 4
  • FLJ14415 2
  • FLJ90298 2
  • LPCAT4 3
  • MBOAT2 5

External Ids for MBOAT2 Gene

Previous HGNC Symbols for MBOAT2 Gene

  • OACT2

Previous GeneCards Identifiers for MBOAT2 Gene

  • GC02M008910
  • GC02M008843
  • GC02M008996

Summaries for MBOAT2 Gene

GeneCards Summary for MBOAT2 Gene

MBOAT2 (Membrane Bound O-Acyltransferase Domain Containing 2) is a Protein Coding gene. Diseases associated with MBOAT2 include Fanconi Anemia, Complementation Group D2 and Chanarin-Dorfman Syndrome. Among its related pathways are Acyl chain remodelling of PE and Glycerolipid metabolism. Gene Ontology (GO) annotations related to this gene include 1-acylglycerol-3-phosphate O-acyltransferase activity. An important paralog of this gene is MBOAT1.

UniProtKB/Swiss-Prot Summary for MBOAT2 Gene

  • Acyltransferase which mediates the conversion of lysophosphatidylethanolamine (1-acyl-sn-glycero-3-phosphoethanolamine or LPE) into phosphatidylethanolamine (1,2-diacyl-sn-glycero-3-phosphoethanolamine or PE) (LPEAT activity). Catalyzes also the acylation of lysophosphatidic acid (LPA) into phosphatidic acid (PA) (LPAAT activity). Has also a very weak lysophosphatidylcholine acyltransferase (LPCAT activity). Prefers oleoyl-CoA as the acyl donor. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MBOAT2 Gene

Genomics for MBOAT2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MBOAT2 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
GH02J009001 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.4 430 4.2 SP1 TEAD4 PRDM10 ZNF629 IKZF1 ZNF692 BACH1 FOS JUND FOXA1 MBOAT2 lnc-ASAP2-5 TAF1B SNODB822 KIDINS220
GH02J008836 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 10.8 +166.8 166790 2.6 SP1 TEAD4 TFE3 ZNF692 POLR2A LARP7 PKNOX1 RBFOX2 RXRB PATZ1 KIDINS220 lnc-MBOAT2-5 MBOAT2 lnc-MBOAT2-7 ID2
GH02J009142 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas 10.8 -139.3 -139267 1.6 HNRNPL GATAD2A CTCF TEAD4 ZNF629 IKZF1 NFKBIZ RCOR2 TARDBP JUND ENSG00000240980 ASAP2 CPSF3 ITGB1BP1 MBOAT2 HSALNG0012878 LOC105373417 RF00017-3109
GH02J008894 Enhancer 1.1 Ensembl ENCODE 10.9 +109.5 109498 2 RNF2 RFX1 LEF1 IKZF1 JUND MTA2 PKNOX1 NR2C1 ZNF24 BRD9 MBOAT2 piR-31846-008 lnc-KIDINS220-11 KIDINS220
GH02J009102 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 10.6 -99.8 -99829 2.7 KDM1A RXRB ZNF341 CEBPA TCF7 CTBP1 ZSCAN5C FOXA2 ESRRA ZBTB17 ENSG00000242136 LOC105373414 ENSG00000261104 MBOAT2 ASAP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MBOAT2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MBOAT2

Top Transcription factor binding sites by QIAGEN in the MBOAT2 gene promoter:
  • FOXI1
  • HFH-3
  • Nkx2-2
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • RORalpha1
  • Sox5
  • USF-1
  • USF1

Genomic Locations for MBOAT2 Gene

Genomic Locations for MBOAT2 Gene
chr2:8,852,690-9,003,710
(GRCh38/hg38)
Size:
151,021 bases
Orientation:
Minus strand
chr2:8,992,820-9,143,942
(GRCh37/hg19)
Size:
151,123 bases
Orientation:
Minus strand

Genomic View for MBOAT2 Gene

Genes around MBOAT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MBOAT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MBOAT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MBOAT2 Gene

Proteins for MBOAT2 Gene

  • Protein details for MBOAT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZWT7-MBOA2_HUMAN
    Recommended name:
    Lysophospholipid acyltransferase 2
    Protein Accession:
    Q6ZWT7
    Secondary Accessions:
    • A9EDR2
    • Q8NCE7
    • Q96KY4

    Protein attributes for MBOAT2 Gene

    Size:
    520 amino acids
    Molecular mass:
    59527 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC11204.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for MBOAT2 Gene

Post-translational modifications for MBOAT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MBOAT2 Gene

Domains & Families for MBOAT2 Gene

Gene Families for MBOAT2 Gene

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

Protein Domains for MBOAT2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MBOAT2 Gene

GenScript: Design optimal peptide antigens:
  • Membrane-bound O-acyltransferase domain-containing protein 2 (MBOA2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6ZWT7

UniProtKB/Swiss-Prot:

MBOA2_HUMAN :
  • Belongs to the membrane-bound acyltransferase family.
Family:
  • Belongs to the membrane-bound acyltransferase family.
genes like me logo Genes that share domains with MBOAT2: view

Function for MBOAT2 Gene

Molecular function for MBOAT2 Gene

UniProtKB/Swiss-Prot Function:
Acyltransferase which mediates the conversion of lysophosphatidylethanolamine (1-acyl-sn-glycero-3-phosphoethanolamine or LPE) into phosphatidylethanolamine (1,2-diacyl-sn-glycero-3-phosphoethanolamine or PE) (LPEAT activity). Catalyzes also the acylation of lysophosphatidic acid (LPA) into phosphatidic acid (PA) (LPAAT activity). Has also a very weak lysophosphatidylcholine acyltransferase (LPCAT activity). Prefers oleoyl-CoA as the acyl donor. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1-acyl-sn-glycero-3-phosphoethanolamine + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphoethanolamine + CoA; Xref=Rhea:RHEA:32995, ChEBI:CHEBI:57287, ChEBI:CHEBI:58342, ChEBI:CHEBI:64381, ChEBI:CHEBI:64612; EC=2.3.1.n7;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1-acyl-sn-glycero-3-phosphate + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:19709, ChEBI:CHEBI:57287, ChEBI:CHEBI:57970, ChEBI:CHEBI:58342, ChEBI:CHEBI:58608; EC=2.3.1.51;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Partially inhibited by thimerosal.

Enzyme Numbers (IUBMB) for MBOAT2 Gene

Phenotypes From GWAS Catalog for MBOAT2 Gene

Gene Ontology (GO) - Molecular Function for MBOAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003841 1-acylglycerol-3-phosphate O-acyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA,IBA 21873635
genes like me logo Genes that share ontologies with MBOAT2: view

Phenotypes for MBOAT2 Gene

genes like me logo Genes that share phenotypes with MBOAT2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for MBOAT2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MBOAT2

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MBOAT2 Gene

Localization for MBOAT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MBOAT2 Gene

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 MBOAT2 gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 4
cytosol 3
mitochondrion 2
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MBOAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA,IBA 21873635
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MBOAT2: view

Pathways & Interactions for MBOAT2 Gene

genes like me logo Genes that share pathways with MBOAT2: view

UniProtKB/Swiss-Prot Q6ZWT7-MBOA2_HUMAN

  • Pathway: Lipid metabolism; phospholipid metabolism.

Interacting Proteins for MBOAT2 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: ENSP00000302177 Q6ZWT7-MBOA2_HUMAN for MBOAT2 Gene via STRING IID

Gene Ontology (GO) - Biological Process for MBOAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006644 phospholipid metabolic process IEA --
GO:0008654 phospholipid biosynthetic process IEA --
GO:0030258 lipid modification IBA 21873635
GO:0036151 phosphatidylcholine acyl-chain remodeling TAS --
genes like me logo Genes that share ontologies with MBOAT2: view

No data available for SIGNOR curated interactions for MBOAT2 Gene

Drugs & Compounds for MBOAT2 Gene

(1) Drugs for MBOAT2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Coenzyme A Investigational Nutra 0
genes like me logo Genes that share compounds with MBOAT2: view

Transcripts for MBOAT2 Gene

mRNA/cDNA for MBOAT2 Gene

4 REFSEQ mRNAs :
13 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 MBOAT2

Alternative Splicing Database (ASD) splice patterns (SP) for MBOAT2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1:
SP2: - - -

Relevant External Links for MBOAT2 Gene

GeneLoc Exon Structure for
MBOAT2

Expression for MBOAT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MBOAT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MBOAT2 Gene

This gene is overexpressed in Lung (23.7), Platelet (20.1), Peripheral blood mononuclear cells (9.8), and Breast (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MBOAT2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MBOAT2

SOURCE GeneReport for Unigene cluster for MBOAT2 Gene:

Hs.467634

mRNA Expression by UniProt/SwissProt for MBOAT2 Gene:

Q6ZWT7-MBOA2_HUMAN
Tissue specificity: Expressed in neutrophils.

Evidence on tissue expression from TISSUES for MBOAT2 Gene

  • Nervous system(4.9)
  • Lung(4.6)
  • Skin(2.4)
  • Kidney(2.4)
  • Liver(2.2)
  • Pancreas(2.2)
  • Bone marrow(2.1)
  • Blood(2.1)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with MBOAT2: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MBOAT2 Gene

Orthologs for MBOAT2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MBOAT2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MBOAT2 30 31
  • 99.42 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MBOAT2 30 31
  • 89.47 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MBOAT2 30 31
  • 88.48 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mboat2 30
  • 86.13 (n)
Mouse
(Mus musculus)
Mammalia Mboat2 30 17 31
  • 85.68 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MBOAT2 31
  • 85 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MBOAT2 31
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MBOAT2 30 31
  • 81.39 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MBOAT2 31
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mboat2 30
  • 71.41 (n)
Zebrafish
(Danio rerio)
Actinopterygii mboat2b 30 31
  • 64.01 (n)
OneToMany
mboat2a 31
  • 64 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007567 30
  • 47.36 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta oys 30 31
  • 46.93 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea mboa-4 30 31
  • 45.56 (n)
ManyToMany
mboa-3 31
  • 32 (a)
ManyToMany
mboa-5 31
  • 25 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALE1 30 31 33
  • 45.1 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F20163g 30
  • 43.73 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGR271C 30
  • 42.13 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G63050 30
  • 44.62 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0676000 30
  • 41.06 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC16A3.10 30
  • 44.47 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU06194 30
  • 42.29 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10638 31
  • 32 (a)
OneToMany
Species where no ortholog for MBOAT2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • 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 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MBOAT2 Gene

ENSEMBL:
Gene Tree for MBOAT2 (if available)
TreeFam:
Gene Tree for MBOAT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MBOAT2: view image

Paralogs for MBOAT2 Gene

Paralogs for MBOAT2 Gene

(1) SIMAP similar genes for MBOAT2 Gene using alignment to 4 proteins:

  • MBOA2_HUMAN
  • C9J2H7_HUMAN
  • F8WDJ6_HUMAN
  • H7C5D1_HUMAN
genes like me logo Genes that share paralogs with MBOAT2: view

Variants for MBOAT2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MBOAT2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs16866827 - p.Thr501Ala

Additional dbSNP identifiers (rs#s) for MBOAT2 Gene

Structural Variations from Database of Genomic Variants (DGV) for MBOAT2 Gene

Variant ID Type Subtype PubMed ID
esv2719616 CNV deletion 23290073
esv3589761 CNV loss 21293372
nsv1071970 CNV deletion 25765185
nsv1112756 CNV deletion 24896259
nsv2600 CNV insertion 18451855
nsv517367 CNV gain 19592680
nsv833359 CNV loss 17160897

Variation tolerance for MBOAT2 Gene

Residual Variation Intolerance Score: 61% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.98; 49.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MBOAT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MBOAT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MBOAT2 Gene

Disorders for MBOAT2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MBOAT2 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with MBOAT2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MBOAT2 Gene

Publications for MBOAT2 Gene

  1. LPT1 encodes a membrane-bound O-acyltransferase involved in the acylation of lysophospholipids in the yeast Saccharomyces cerevisiae. (PMID: 17890783) Tamaki H … Kumagai H (The Journal of biological chemistry 2007) 3 4
  2. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. FAM105A/OTULINL Is a Pseudodeubiquitinase of the OTU-Class that Localizes to the ER Membrane. (PMID: 31056421) Ceccarelli DF … Sicheri F (Structure (London, England : 1993) 2019) 3

Products for MBOAT2 Gene

Sources for MBOAT2 Gene