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Aliases for LPIN2 Gene

Aliases for LPIN2 Gene

  • Lipin 2 2 3
  • Lipin-2 3 4
  • Phosphatidate Phosphatase LPIN2 3
  • EC 3.1.3.4 4
  • KIAA0249 4

External Ids for LPIN2 Gene

Summaries for LPIN2 Gene

Entrez Gene Summary for LPIN2 Gene

  • 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]

GeneCards Summary for LPIN2 Gene

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 Metabolism and Metabolism. GO annotations related to this gene include transcription coactivator activity and phosphatidate phosphatase activity. An important paralog of this gene is LPIN1.

UniProtKB/Swiss-Prot for LPIN2 Gene

  • Plays important roles in controlling the metabolism of fatty acids at differents levels. Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis in the reticulum endoplasmic membrane. Acts also as a nuclear transcriptional coactivator for PPARGC1A to modulate lipid metabolism (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LPIN2 Gene

Genomics for LPIN2 Gene

Genomic Location for LPIN2 Gene

Start:
2,916,994 bp from pter
End:
3,013,315 bp from pter
Size:
96,322 bases
Orientation:
Minus strand

Genomic View for LPIN2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LPIN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LPIN2 Gene

Regulatory Elements for LPIN2 Gene

Proteins for LPIN2 Gene

  • Protein details for LPIN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92539-LPIN2_HUMAN
    Recommended name:
    Phosphatidate phosphatase LPIN2
    Protein Accession:
    Q92539
    Secondary Accessions:
    • A7MD25
    • D3DUH3

    Protein attributes for LPIN2 Gene

    Size:
    896 amino acids
    Molecular mass:
    99399 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA13380.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for LPIN2 Gene

Proteomics data for LPIN2 Gene at MOPED

Post-translational modifications for LPIN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LPIN2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for LPIN2 Gene

Domains for LPIN2 Gene

Gene Families for LPIN2 Gene

Protein Domains for LPIN2 Gene

UniProtKB/Swiss-Prot:

LPIN2_HUMAN
Domain:
  • Contains 1 Asp-Xaa-Asp-Xaa-Thr (DXDXT) motif, a catalytic motif known to be essential for phosphatidate phosphatase activity.:
    • Q92539
  • Contains one Leu-Xaa-Xaa-Ile-Leu (LXXIL) motif, a motif known to be a transcriptional binding motif.:
    • Q92539
Family:
  • Belongs to the lipin family.:
    • Q92539
genes like me logo Genes that share domains with LPIN2: view

Function for LPIN2 Gene

Molecular function for LPIN2 Gene

UniProtKB/Swiss-Prot CatalyticActivity: A 1,2-diacylglycerol 3-phosphate + H(2)O = a 1,2-diacyl-sn-glycerol + phosphate
UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by N-ethylmaleimide.
UniProtKB/Swiss-Prot Function: Plays important roles in controlling the metabolism of fatty acids at differents levels. Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis in the reticulum endoplasmic membrane. Acts also as a nuclear transcriptional coactivator for PPARGC1A to modulate lipid metabolism (By similarity).

Enzyme Numbers (IUBMB) for LPIN2 Gene

Gene Ontology (GO) - Molecular Function for LPIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity ISS --
GO:0008195 phosphatidate phosphatase activity ISS --
genes like me logo Genes that share ontologies with LPIN2: view

Phenotypes for LPIN2 Gene

GenomeRNAi human phenotypes for LPIN2:
genes like me logo Genes that share phenotypes with LPIN2: view

miRNA for LPIN2 Gene

miRTarBase miRNAs that target LPIN2

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for LPIN2 Gene

Localization for LPIN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LPIN2 Gene

Nucleus. Cytoplasm, cytosol. Endoplasmic reticulum membrane. Note=Translocates to endoplasmic reticulum membrane with increasing levels of oleate. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LPIN2 Gene COMPARTMENTS Subcellular localization image for LPIN2 gene
Compartment Confidence
endoplasmic reticulum 4
nucleus 3
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for LPIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005829 cytosol IBA --
genes like me logo Genes that share ontologies with LPIN2: view

Pathways for LPIN2 Gene

genes like me logo Genes that share pathways with LPIN2: view

Interacting Proteins for LPIN2 Gene

Gene Ontology (GO) - Biological Process for LPIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006629 lipid metabolic process ISS --
GO:0006631 fatty acid metabolic process --
GO:0006644 phospholipid metabolic process TAS --
GO:0006646 phosphatidylethanolamine biosynthetic process TAS --
genes like me logo Genes that share ontologies with LPIN2: view

Transcripts for LPIN2 Gene

mRNA/cDNA for LPIN2 Gene

Unigene Clusters for LPIN2 Gene

Lipin 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LPIN2 Gene

No ASD Table

Relevant External Links for LPIN2 Gene

GeneLoc Exon Structure for
LPIN2
ECgene alternative splicing isoforms for
LPIN2

Expression for LPIN2 Gene

mRNA expression in normal human tissues for LPIN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LPIN2 Gene

This gene is overexpressed in Liver (4.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for LPIN2 Gene

SOURCE GeneReport for Unigene cluster for LPIN2 Gene Hs.132342

mRNA Expression by UniProt/SwissProt for LPIN2 Gene

Q92539-LPIN2_HUMAN
Tissue specificity: Expressed in liver, lung, kidney, placenta, spleen, thymus, lymph node, prostate, testes, small intestine, and colon.
genes like me logo Genes that share expressions with LPIN2: view

Orthologs for LPIN2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for LPIN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LPIN2 36
  • 99.22 (n)
  • 99.55 (a)
LPIN2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LPIN2 36
  • 83.52 (n)
  • 89.41 (a)
LPIN2 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LPIN2 36
  • 90.36 (n)
  • 93.08 (a)
LPIN2 37
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lpin2 36
  • 86.64 (n)
  • 90.26 (a)
Lpin2 16
Lpin2 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LPIN2 37
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LPIN2 37
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lpin2 36
  • 86.61 (n)
  • 90.27 (a)
chicken
(Gallus gallus)
Aves LPIN2 36
  • 76.3 (n)
  • 82.67 (a)
LPIN2 37
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LPIN2 37
  • 78 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68631 36
tropical clawed frog
(Silurana tropicalis)
Amphibia lpin2 36
  • 70.81 (n)
  • 74.89 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.6402 36
lipin2 36
  • 66.18 (n)
  • 68.59 (a)
lipin2 37
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Lpin 37
  • 29 (a)
OneToMany
CG8709 38
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea lpin-1 37
  • 32 (a)
OneToMany
H37A05.1 38
  • 42 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PAH1 37
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 30 (a)
ManyToMany
-- 37
  • 57 (a)
ManyToMany
Species with no ortholog for LPIN2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 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 LPIN2 Gene

ENSEMBL:
Gene Tree for LPIN2 (if available)
TreeFam:
Gene Tree for LPIN2 (if available)

Paralogs for LPIN2 Gene

Paralogs for LPIN2 Gene

Selected SIMAP similar genes for LPIN2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with LPIN2: view

Variants for LPIN2 Gene

Sequence variations from dbSNP and Humsavar for LPIN2 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs1164 -- 2,917,154(-) CACTA(A/G)TAAGT utr-variant-3-prime
rs1985 -- 2,917,225(-) AGGGG(A/T)AACTT utr-variant-3-prime
rs4781 -- 2,917,347(-) TTCCC(A/G)TGTTG utr-variant-3-prime
rs7980 -- 2,917,359(+) ACATC(A/G)AAATT utr-variant-3-prime
rs10937 -- 2,917,285(-) AGTAA(C/G)TGCTC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for LPIN2 Gene

Variant ID Type Subtype PubMed ID
nsv2189 CNV Loss 18451855
esv2661655 CNV Deletion 23128226
esv2662483 CNV Deletion 23128226
esv2716682 CNV Deletion 23290073
esv2716683 CNV Deletion 23290073
esv1119374 CNV Deletion 17803354

Relevant External Links for LPIN2 Gene

HapMap Linkage Disequilibrium report
LPIN2
Human Gene Mutation Database (HGMD)
LPIN2
Locus Specific Mutation Databases (LSDB)
LPIN2

Disorders for LPIN2 Gene

(1) OMIM Diseases for LPIN2 Gene (605519)

UniProtKB/Swiss-Prot

LPIN2_HUMAN
  • Majeed syndrome (MAJEEDS) [MIM:609628]: An autosomal recessive syndrome characterized by chronic recurrent multifocal osteomyelitis that is of early onset with a lifelong course, congenital dyserythropoietic anemia that presents as hypochromic, microcytic anemia during the first year of life and ranges from mild to transfusion-dependent, and transient inflammatory dermatosis, often manifesting as Sweet syndrome (neutrophilic skin infiltration). {ECO:0000269 PubMed:15994876}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for LPIN2 Gene

Relevant External Links for LPIN2

GeneTests
LPIN2
GeneReviews
LPIN2
Genetic Association Database (GAD)
LPIN2
Human Genome Epidemiology (HuGE) Navigator
LPIN2
genes like me logo Genes that share disorders with LPIN2: view

Publications for LPIN2 Gene

  1. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PMID: 9039502) Nagase T. … Nomura N. (DNA Res. 1996) 2 3 4
  2. Lipodystrophy in the fld mouse results from mutation of a new gene encoding a nuclear protein, lipin. (PMID: 11138012) PActerfy M. … Reue K. (Nat. Genet. 2001) 2 3
  3. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). (PMID: 15994876) Ferguson P.J. … El-Shanti H. (J. Med. Genet. 2005) 3 4
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4
  5. LPIN2 is associated with type 2 diabetes, glucose metabolism, and body composition. (PMID: 17804763) Aulchenko Y.S. … van Duijn C.M. (Diabetes 2007) 3 49

Products for LPIN2 Gene

Sources for LPIN2 Gene

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