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Mouse studies suggest that this gene functions during normal adipose tissue development and may play a role in human triglyceride metabolism. This gene represents a candidate gene for human lipodystrophy, characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. [provided by RefSeq, Jul 2008]
LPIN2 (Lipin 2) is a Protein Coding gene. Diseases associated with LPIN2 include Majeed Syndrome and Chronic Recurrent Multifocal Osteomyelitis. Among its related pathways are Mitotic Prophase and Glycerolipid metabolism. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity and phosphatidate phosphatase activity. An important paralog of this gene is LPIN1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003713 | transcription coactivator activity | IBA,ISS | -- |
GO:0008195 | phosphatidate phosphatase activity | ISS | -- |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0005829 | cytosol | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glycerophospholipid biosynthesis |
.01
|
|
2 | Metabolism |
.40
|
|
3 | Cell Cycle, Mitotic |
.83
|
.60
|
4 | Transport of the SLBP independent Mature mRNA | ||
5 | Glycerolipid metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | ISS | -- |
GO:0006631 | fatty acid metabolic process | IEA | -- |
GO:0006646 | phosphatidylethanolamine biosynthetic process | TAS | -- |
GO:0006656 | phosphatidylcholine biosynthetic process | TAS | -- |
GO:0009062 | fatty acid catabolic process | IBA | 21873635 |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LPIN2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LPIN2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Lpin2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Lpin2 30 |
|
||
Cow (Bos Taurus) |
Mammalia | LPIN2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | LPIN2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | LPIN2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LPIN2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | LPIN2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | lpin2 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68631 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | lipin2 30 31 |
|
OneToOne | |
Dr.6402 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG8709 32 |
|
|
|
Lpin 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | H37A05.1 32 |
|
|
|
lpin-1 31 |
|
OneToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PAH1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
639857 | Uncertain Significance: Majeed syndrome | 2,920,367(-) | G/T | MISSENSE_VARIANT | |
644956 | Uncertain Significance: Majeed syndrome | 2,937,709(-) | G/A | MISSENSE_VARIANT | |
647703 | Uncertain Significance: Majeed syndrome | 2,954,592(-) | A/G | MISSENSE_VARIANT | |
647796 | Uncertain Significance: Majeed syndrome | 2,937,778(-) | G/A | MISSENSE_VARIANT | |
649769 | Uncertain Significance: Majeed syndrome | 2,960,735(-) | C/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1119374 | CNV | deletion | 17803354 |
esv2661655 | CNV | deletion | 23128226 |
esv2662483 | CNV | deletion | 23128226 |
esv2716682 | CNV | deletion | 23290073 |
esv2716683 | CNV | deletion | 23290073 |
esv3554963 | CNV | deletion | 23714750 |
esv3582944 | CNV | loss | 25503493 |
esv3582945 | CNV | loss | 25503493 |
esv3641579 | CNV | loss | 21293372 |
esv3641580 | CNV | loss | 21293372 |
nsv1062247 | CNV | gain | 25217958 |
nsv1070862 | CNV | deletion | 25765185 |
nsv1116248 | CNV | deletion | 24896259 |
nsv1127609 | CNV | deletion | 24896259 |
nsv2189 | CNV | deletion | 18451855 |
nsv576251 | CNV | gain | 21841781 |
nsv960645 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
majeed syndrome |
|
|
chronic recurrent multifocal osteomyelitis |
|
|
osteomyelitis |
|
|
sapho syndrome |
|
|
congenital dyserythropoietic anemia |
|
|