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] See more...

Aliases for LPIN2 Gene

Aliases for LPIN2 Gene

  • Lipin 2 2 3 5
  • Phosphatidate Phosphatase LPIN2 3 4
  • EC 3.1.3.4 4
  • KIAA0249 4
  • Lipin-2 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 Chronic Recurrent Multifocal Osteomyelitis. Among its related pathways are Glycerophospholipid biosynthesis and 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.

UniProtKB/Swiss-Prot Summary for LPIN2 Gene

  • Plays important roles in controlling the metabolism of fatty acids at different 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).

Additional gene information for LPIN2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LPIN2 Gene

Genomics for LPIN2 Gene

GeneHancer (GH) Regulatory Elements for LPIN2 Gene

Promoters and enhancers for LPIN2 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 LPIN2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LPIN2

Top Transcription factor binding sites by QIAGEN in the LPIN2 gene promoter:
  • AREB6
  • Arnt
  • E4BP4
  • ER-alpha
  • HNF-1
  • HNF-1A
  • LyF-1
  • POU2F1
  • POU2F1a
  • POU3F1

Genomic Locations for LPIN2 Gene

Genomic Locations for LPIN2 Gene
chr18:2,916,994-3,013,315
(GRCh38/hg38)
Size:
96,322 bases
Orientation:
Minus strand
chr18:2,916,992-3,013,313
(GRCh37/hg19)
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

Post-translational modifications for LPIN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LPIN2 Gene

No data available for DME Specific Peptides for LPIN2 Gene

Domains & Families for LPIN2 Gene

Gene Families for LPIN2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for LPIN2 Gene

Blocks:
  • Lipin, N-terminal conserved region
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LPIN2 Gene

GenScript: Design optimal peptide antigens:
  • Lipin-2 (LPIN2_HUMAN)

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 Function:
Plays important roles in controlling the metabolism of fatty acids at different 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phosphate + H2O = a 1,2-diacyl-sn-glycerol + phosphate; Xref=Rhea:RHEA:27429, ChEBI:CHEBI:15377, ChEBI:CHEBI:17815, ChEBI:CHEBI:43474, ChEBI:CHEBI:58608; EC=3.1.3.4;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by N-ethylmaleimide.

Enzyme Numbers (IUBMB) for LPIN2 Gene

Phenotypes From GWAS Catalog 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 --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with LPIN2: view
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:
  • Lpin2 Lpin2<tm1Reue>
  • Lpin2 Lpin2<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for LPIN2 Gene

miRTarBase miRNAs that target LPIN2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LPIN2

Clone Products

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LPIN2 gene
Compartment Confidence
cytosol 5
nucleus 4
endoplasmic reticulum 4
plasma membrane 3
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (3)
  • Cytosol (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LPIN2 Gene

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

Pathways & Interactions for LPIN2 Gene

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

Gene Ontology (GO) - Biological Process for LPIN2 Gene

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
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) Drugs for LPIN2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
genes like me logo Genes that share compounds with LPIN2: view

Transcripts for LPIN2 Gene

mRNA/cDNA for LPIN2 Gene

3 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LPIN2

Clone Products

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

No ASD Table

Relevant External Links for LPIN2 Gene

GeneLoc Exon Structure for
LPIN2

Expression for LPIN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for LPIN2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LPIN2

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.

Evidence on tissue expression from TISSUES for LPIN2 Gene

  • Liver(4.6)
  • Blood(4.2)
  • Bone marrow(4.2)
  • Nervous system(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LPIN2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • liver
  • spleen
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • hair
  • red blood cell
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with LPIN2: view

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
chimpanzee
(Pan troglodytes)
Mammalia LPIN2 31 30
  • 99.22 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LPIN2 31 30
  • 90.36 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Lpin2 17 31 30
  • 86.64 (n)
rat
(Rattus norvegicus)
Mammalia Lpin2 30
  • 86.61 (n)
cow
(Bos Taurus)
Mammalia LPIN2 31 30
  • 83.52 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LPIN2 31
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LPIN2 31
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves LPIN2 31 30
  • 76.3 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LPIN2 31
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lpin2 30
  • 70.81 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68631 30
zebrafish
(Danio rerio)
Actinopterygii lipin2 31 30
  • 66.18 (n)
OneToOne
Dr.6402 30
fruit fly
(Drosophila melanogaster)
Insecta CG8709 32
  • 40 (a)
Lpin 31
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea H37A05.1 32
  • 42 (a)
lpin-1 31
  • 32 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PAH1 31
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 57 (a)
ManyToMany
-- 31
  • 30 (a)
ManyToMany
Species where no ortholog for LPIN2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for LPIN2: view image

Paralogs for LPIN2 Gene

Paralogs for LPIN2 Gene

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

  • LPIN2_HUMAN
  • J3KTK1_HUMAN
  • J3QQN0_HUMAN
genes like me logo Genes that share paralogs with LPIN2: view

Variants for LPIN2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LPIN2 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
567272 Pathogenic: Majeed syndrome 2,951,056(-) G/A NONSENSE
567527 Uncertain Significance: Majeed syndrome 2,940,605(-) G/A MISSENSE_VARIANT
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

Additional dbSNP identifiers (rs#s) for LPIN2 Gene

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

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

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)

Additional Variant Information for LPIN2 Gene

Human Gene Mutation Database (HGMD)
LPIN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LPIN2

SNP Genotyping and Copy Number Assay Products

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

Disorders for LPIN2 Gene

MalaCards: The human disease database

(14) MalaCards diseases for LPIN2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
majeed syndrome
  • mjds
chronic recurrent multifocal osteomyelitis
  • crmo
osteomyelitis
sapho syndrome
  • synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome
congenital dyserythropoietic anemia
  • cda
- 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 (MJDS) [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.

Additional Disease Information for LPIN2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 research : an international journal for rapid publication of reports on genes and genomes 1996) 2 3 4 54
  2. Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. (PMID: 21490949) Sim X … Tai ES (PLoS genetics 2011) 3 41 54
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  4. Genetic susceptibility factors in a cohort of 38 patients with SAPHO syndrome: a study of PSTPIP2, NOD2, and LPIN2 genes. (PMID: 20032092) Hurtado-Nedelec M … Gérard B (The Journal of rheumatology 2010) 3 41 54
  5. 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 (The Journal of biological chemistry 2009) 3 23 54

Products for LPIN2 Gene

Sources for LPIN2 Gene