Free for academic non-profit institutions. Other users need a Commercial license
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
External Ids for MBOAT2 Gene
- HGNC: 25193
- Entrez Gene: 129642
- Ensembl: ENSG00000143797
- OMIM: 611949
- UniProtKB: Q6ZWT7
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.
Additional gene information for MBOAT2 Gene
- HGNC(25193)
- Entrez Gene(129642)
- Ensembl(ENSG00000143797)
- OMIM(611949)
- UniProtKB(Q6ZWT7)
- Open Targets Platform(ENSG00000143797)
- Monarch Initiative
- Search for MBOAT2 at DataMed
- Search for MBOAT2 at HumanCyc
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
- 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:
-
- 2p25.1 by HGNC
- 2p25.1 by Entrez Gene
- 2p25.1 by Ensembl
MBOAT2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for MBOAT2 Gene
Post-translational modifications for MBOAT2 Gene
Other Protein References for MBOAT2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-MBOAT2 monoclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for MBOAT2
- Novus Biologicals Antibodies for MBOAT2
- Invitrogen Antibodies for MBOAT2 (AFLGC-MBOAT2)
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for MBOAT2
- Origene Custom Protein Services for MBOAT2
- Novus Biologicals proteins for MBOAT2
- antibodies-online: Show 3 available MBOAT2 Proteins ranked by validation data
- Compare Top MBOAT2 Proteins
-
Quality Products:
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
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- Family:
-
- Belongs to the membrane-bound acyltransferase family.
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
| 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 |
Phenotypes for MBOAT2 Gene
- MGI mutant phenotypes for MBOAT2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for MBOAT2:
Animal Model Products
-
Taconic Biosciences Mouse Models for MBOAT2
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MBOAT2 - Select products 50% OFF >
- * MBOAT2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MBOAT2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MBOAT2
-
Santa Cruz Biotechnology (SCBT) CRISPR for MBOAT2
miRNA for MBOAT2 Gene
- miRTarBase miRNAs that target MBOAT2
-
- mmu-miR-181a-5p (MIRT014052)
- hsa-miR-218-5p (MIRT440270)
- hsa-miR-7977 (MIRT536069)
- hsa-miR-513b-5p (MIRT536071)
- hsa-miR-7974 (MIRT536072)
- hsa-miR-4719 (MIRT536073)
- hsa-miR-513c-3p (MIRT536074)
- hsa-miR-513a-3p (MIRT536075)
- hsa-miR-3606-3p (MIRT536076)
- hsa-miR-4282 (MIRT536077)
- hsa-miR-6885-3p (MIRT536078)
- hsa-miR-887-5p (MIRT536079)
- hsa-miR-6779-5p (MIRT536080)
- hsa-miR-6780a-5p (MIRT536081)
- hsa-miR-3689c (MIRT536082)
- hsa-miR-3689b-3p (MIRT536083)
- hsa-miR-3689a-3p (MIRT536084)
- hsa-miR-1273h-5p (MIRT536085)
- hsa-miR-30b-3p (MIRT536086)
- hsa-miR-6788-5p (MIRT536087)
- hsa-miR-30c-2-3p (MIRT536088)
- hsa-miR-30c-1-3p (MIRT536089)
- hsa-miR-3977 (MIRT536090)
- hsa-miR-4291 (MIRT536091)
- hsa-miR-920 (MIRT536092)
- hsa-miR-6726-5p (MIRT536093)
- hsa-miR-5591-5p (MIRT536094)
- hsa-miR-4300 (MIRT536095)
- hsa-miR-6090 (MIRT536096)
- hsa-miR-6827-5p (MIRT536097)
- hsa-miR-7157-5p (MIRT536098)
- hsa-miR-4310 (MIRT536099)
- hsa-miR-4762-5p (MIRT536100)
- hsa-miR-8485 (MIRT608598)
- hsa-miR-3149 (MIRT636421)
- hsa-miR-4477a (MIRT636422)
- hsa-miR-496 (MIRT636423)
- hsa-miR-548as-3p (MIRT636424)
- hsa-miR-3613-3p (MIRT656418)
- hsa-miR-3074-5p (MIRT711022)
- hsa-miR-6868-3p (MIRT711023)
- hsa-miR-5581-5p (MIRT711024)
- hsa-miR-4297 (MIRT711025)
- hsa-miR-3667-3p (MIRT711026)
- hsa-miR-6747-3p (MIRT711027)
- hsa-miR-6727-3p (MIRT711028)
- hsa-miR-4722-3p (MIRT711029)
- hsa-miR-1306-5p (MIRT711030)
- hsa-miR-6800-3p (MIRT711031)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MBOAT2
- Browse OriGene Inhibitory RNA Products For MBOAT2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MBOAT2
Clone Products
- Applied Biological Materials (abm): Clones for MBOAT2 - Select products 50% OFF >
- * MBOAT2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MBOAT2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MBOAT2
Cell Line Products
-
Horizon Cell Lines 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.
| 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 |
- Vesicles (2)
| 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 | -- |
Pathways & Interactions for MBOAT2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glycerophospholipid biosynthesis | ||
| 2 | Metabolism |
.40
|
|
| 3 | Acyl chain remodelling of PE | ||
| 4 | triacylglycerol biosynthesis | ||
| 5 | Glycerolipid metabolism | ||
Pathways by source for MBOAT2 Gene
2 BioSystems pathways for MBOAT2 Gene
6 Reactome pathways for MBOAT2 Gene
3 KEGG pathways for MBOAT2 Gene
UniProtKB/Swiss-Prot Q6ZWT7-MBOA2_HUMAN
- Pathway: Lipid metabolism; phospholipid metabolism.
Interacting Proteins for MBOAT2 Gene
GPS-Prot Interaction Network for MBOAT2
| 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 | -- |
No data available for SIGNOR curated interactions for MBOAT2 Gene
Drugs & Compounds for MBOAT2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Coenzyme A | Investigational | Nutra | 0 |
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 :
-
- ENST00000305997 7622 nts (view in UCSC)
- ENST00000460786 550 nts (view in UCSC)
- ENST00000462696 580 nts (view in UCSC)
- ENST00000471753 1227 nts (view in UCSC)
- ENST00000473432 576 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MBOAT2 - Select products 50% OFF >
- * MBOAT2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MBOAT2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MBOAT2
-
Santa Cruz Biotechnology (SCBT) CRISPR for MBOAT2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MBOAT2
- Browse OriGene Inhibitory RNA Products For MBOAT2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MBOAT2
Clone Products
- Applied Biological Materials (abm): Clones for MBOAT2 - Select products 50% OFF >
- * MBOAT2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MBOAT2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MBOAT2
| 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 embryonic tissues and stem cells from LifeMap Discovery
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.467634mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for MBOAT2
-
OriGene qPCR primer pairs and template standards for MBOAT2
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | MBOAT2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | MBOAT2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | MBOAT2 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Mboat2 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Mboat2 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | MBOAT2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | MBOAT2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | MBOAT2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | MBOAT2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mboat2 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | mboat2b 30 31 |
|
OneToMany | |
| mboat2a 31 |
|
OneToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007567 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | oys 30 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | mboa-4 30 31 |
|
ManyToMany | |
| mboa-3 31 |
|
ManyToMany | |||
| mboa-5 31 |
|
ManyToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ALE1 30 31 33 |
|
OneToMany | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F20163g 30 |
|
||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AGR271C 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G63050 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os02g0676000 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPBC16A3.10 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU06194 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10638 31 |
|
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
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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MBOAT2 Gene
Disorders for MBOAT2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| fanconi anemia, complementation group d2 |
|
|
| chanarin-dorfman syndrome |
|
|
| nephrotic syndrome, type 7 |
|
|
| complete generalized lipodystrophy |
|
|
| fanconi anemia, complementation group a |
|
|
Search MBOAT2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for MBOAT2
No data available for UniProtKB/Swiss-Prot and Genatlas for MBOAT2 Gene
Publications for MBOAT2 Gene
- 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
- 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
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 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
- 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
ExternalLinks
Products for MBOAT2 Gene
- Custom Antibody ServicesOriGene Antibodies for MBOAT2
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for MBOAT2
- Origene Custom Protein Services for MBOAT2
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MBOAT2
- Browse OriGene Inhibitory RNA Products For MBOAT2
- OriGene qPCR primer pairs for MBOAT2
- OriGene qPCR primer pairs and template standards for MBOAT2
- OriGene CRISPR knockouts for MBOAT2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For MBOAT2
- Sino Biological Human cDNA Clone for MBOAT2
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for MBOAT2
- Novus Biologicals proteins for MBOAT2
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Taconic Biosciences Mouse Models for MBOAT2
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for MBOAT2 (AFLGC-MBOAT2)
- VectorBuilder Custom and pre-made DNA vectors for MBOAT2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for MBOAT2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for MBOAT2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for MBOAT2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for MBOAT2
- antibodies-online: Show 9 available MBOAT2 Antibodies ranked by validation data
- Compare Top MBOAT2 Antibodies
- antibodies-online: Search results for available MBOAT2 related products ranked by validation data
- antibodies-online: Show 3 available MBOAT2 Proteins ranked by validation data
- Compare Top MBOAT2 Proteins
- Quality Products:
- Horizon Cell Lines for MBOAT2
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MBOAT2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MBOAT2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for MBOAT2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MBOAT2
Sources for MBOAT2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB