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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.
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 |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glycerophospholipid biosynthesis | ||
2 | Metabolism |
.40
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|
3 | Acyl chain remodelling of PE | ||
4 | triacylglycerol biosynthesis | ||
5 | Glycerolipid metabolism |
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 | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Coenzyme A | Investigational | Nutra | 0 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||
SP2: | - | - | - |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
fanconi anemia, complementation group d2 |
|
|
chanarin-dorfman syndrome |
|
|
nephrotic syndrome, type 7 |
|
|
complete generalized lipodystrophy |
|
|
fanconi anemia, complementation group a |
|
|