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Aliases for LPIN2 Gene

Aliases for LPIN2 Gene

  • Lipin 2 2 3 5
  • Lipin-2 3 4
  • EC 3.1.3.4 4
  • KIAA0249 4

External Ids for LPIN2 Gene

Previous GeneCards Identifiers for LPIN2 Gene

  • GC18P003176
  • GC18M002904

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 Osteomyelitis. Among its related pathways are Glycerophospholipid biosynthesis and Regulation of Glucokinase by Glucokinase Regulatory Protein. 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

Regulatory Elements for LPIN2 Gene

Enhancers for LPIN2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around LPIN2 on UCSC Golden Path with GeneCards custom track

Promoters for LPIN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LPIN2 on UCSC Golden Path with GeneCards custom track

Genomic Location for LPIN2 Gene

Chromosome:
18
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

Genes around LPIN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LPIN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LPIN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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:
REFSEQ proteins:

No data available for DME Specific Peptides for LPIN2 Gene

Domains & Families for LPIN2 Gene

Gene Families for LPIN2 Gene

HGNC:
IUPHAR :

Protein Domains for LPIN2 Gene

Suggested Antigen Peptide Sequences for LPIN2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92539

UniProtKB/Swiss-Prot:

LPIN2_HUMAN :
  • Contains 1 Asp-Xaa-Asp-Xaa-Thr (DXDXT) motif, a catalytic motif known to be essential for phosphatidate phosphatase activity.
  • Belongs to the lipin family.
Domain:
  • Contains 1 Asp-Xaa-Asp-Xaa-Thr (DXDXT) motif, a catalytic motif known to be essential for phosphatidate phosphatase activity.
  • Contains one Leu-Xaa-Xaa-Ile-Leu (LXXIL) motif, a motif known to be a transcriptional binding motif.
Family:
  • Belongs to the lipin family.
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

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

Human Phenotype Ontology for LPIN2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LPIN2 Gene

MGI Knock Outs for LPIN2:

Animal Model Products

miRNA for LPIN2 Gene

miRTarBase miRNAs that target LPIN2

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
cytosol 5
nucleus 5
endoplasmic reticulum 3
cytoskeleton 2
plasma membrane 2
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for LPIN2 Gene

Pathways & Interactions 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 IEA,ISS --
GO:0006646 phosphatidylethanolamine biosynthetic process TAS --
GO:0006656 phosphatidylcholine biosynthetic process TAS --
GO:0019432 triglyceride biosynthetic process TAS --
genes like me logo Genes that share ontologies with LPIN2: view

No data available for SIGNOR curated interactions for LPIN2 Gene

Drugs & Compounds for LPIN2 Gene

(2) Additional Compounds for LPIN2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with LPIN2: view

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

This gene is overexpressed in Liver (x4.7).

Protein differential expression in normal tissues from HIPED for LPIN2 Gene

This gene is overexpressed in Breast (43.0), Placenta (7.1), and Fetal ovary (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with LPIN2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for LPIN2 Gene

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
cow
(Bos Taurus)
Mammalia LPIN2 35
  • 83.52 (n)
  • 89.41 (a)
LPIN2 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LPIN2 35
  • 90.36 (n)
  • 93.08 (a)
LPIN2 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lpin2 35
  • 86.64 (n)
  • 90.26 (a)
Lpin2 16
Lpin2 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LPIN2 35
  • 99.22 (n)
  • 99.55 (a)
LPIN2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lpin2 35
  • 86.61 (n)
  • 90.27 (a)
oppossum
(Monodelphis domestica)
Mammalia LPIN2 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LPIN2 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves LPIN2 35
  • 76.3 (n)
  • 82.67 (a)
LPIN2 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LPIN2 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lpin2 35
  • 70.81 (n)
  • 74.89 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68631 35
zebrafish
(Danio rerio)
Actinopterygii Dr.6402 35
lipin2 35
  • 66.18 (n)
  • 68.59 (a)
lipin2 36
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8709 37
  • 40 (a)
Lpin 36
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea H37A05.1 37
  • 42 (a)
lpin-1 36
  • 32 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PAH1 36
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
ManyToMany
-- 36
  • 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

(3) 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
VAR_023817 Majeed syndrome (MAJEEDS)
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

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

Variation tolerance for LPIN2 Gene

Residual Variation Intolerance Score: 16.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.32; 53.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LPIN2 Gene

Human Gene Mutation Database (HGMD)
LPIN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LPIN2 Gene

Disorders for LPIN2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for LPIN2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
majeed syndrome
  • cda and crmo
osteomyelitis
chronic recurrent multifocal osteomyelitis
  • chronic multifocal osteomyelitis
sapho syndrome
  • synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome
lipodystrophy
- elite association - COSMIC cancer census association via MalaCards
Search LPIN2 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for LPIN2

Genetic Association Database (GAD)
LPIN2
Human Genome Epidemiology (HuGE) Navigator
LPIN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LPIN2
genes like me logo Genes that share disorders with LPIN2: view

No data available for Genatlas for LPIN2 Gene

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 67
  2. A conserved serine residue is required for the phosphatidate phosphatase activity but not the transcriptional coactivator functions of lipin-1 and lipin-2. (PMID: 19717560) Donkor J. … Reue K. (J. Biol. Chem. 2009) 3 23
  3. Temporal and spatial regulation of the phosphatidate phosphatases lipin 1 and 2. (PMID: 18694939) Grimsey N. … Siniossoglou S. (J. Biol. Chem. 2008) 3 23
  4. Evaluation of Lipin 2 as a candidate gene for autosomal dominant 1 high-grade myopia. (PMID: 15862761) Zhou J. … Young T.L. (Gene 2005) 3 23
  5. 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

Products for LPIN2 Gene

Sources for LPIN2 Gene

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