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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

LPIN2 Gene

protein-coding   GIFtS: 64
GCID: GC18M002906

Lipin 2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Lipin 21 2
lipin-22
Phosphatidate Phosphatase LPIN22
EC 3.1.3.43
KIAA02493
Lipin-23

External Ids:    HGNC: 144501   Entrez Gene: 96632   Ensembl: ENSG000001015777   OMIM: 6055195   UniProtKB: Q925393   
ORGUL members:         
NONCODE14:n407195 n339766      

Export aliases for LPIN2 gene to outside databases

Previous GC identifers: GC18P003176 GC18M002904


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and is affiliated with the lncRNA class. Diseases associated with LPIN2 include majeed syndrome, and chronic recurrent multifocal osteomyelitis, and among its related super-pathways are Glycerophospholipid biosynthesis and Metabolic pathways. GO annotations related to this gene include transcription coactivator activity and phosphatidate phosphatase activity. An important paralog of this gene is LPIN3.

UniProtKB/Swiss-Prot: LPIN2_HUMAN, Q92539
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)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NT_010859.14  NC_018929.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LPIN2 gene promoter:
         ER-alpha   POU3F1   E4BP4   HNF-1A   Arnt   AREB6   POU2F1   HNF-1   POU2F1a   LyF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLPIN2 promoter sequence
   Search SABiosciences Chromatin IP Primers for LPIN2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LPIN2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18p11.31   Ensembl cytogenetic band:  18p11.31   HGNC cytogenetic band: 18p

LPIN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LPIN2 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M002906:  view genomic region     (about GC identifiers)

Start:
2,916,992 bp from pter      End:
3,013,313 bp from pter
Size:
96,322 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for LPIN2

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: LPIN2_HUMAN, Q92539 (See protein sequence)
Recommended Name: Phosphatidate phosphatase LPIN2  
Size: 896 amino acids; 99399 Da
Cofactor: Mg(2+) (By similarity)
Subcellular location: Nucleus (By similarity). Cytoplasm, cytosol (By similarity). Endoplasmic reticulum membrane
(By similarity). Note=Translocates to endoplasmic reticulum membrane with increasing levels of oleate (By
similarity)
Sequence caution: Sequence=BAA13380.2; Type=Erroneous initiation;
Secondary accessions: A7MD25 D3DUH3

Explore the universe of human proteins at neXtProt for LPIN2: NX_Q92539

Explore proteomics data for LPIN2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92539

  • LPIN2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LPIN2 Protein Expression
    REFSEQ proteins: NP_055461.1  
    ENSEMBL proteins: 
     ENSP00000261596   ENSP00000463026   ENSP00000463810  
    Reactome Protein details: Q92539
    Human Recombinant Protein Products for LPIN2: 
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    Novus Biologicals LPIN2 Lysate
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    Cloud-Clone Corp. Proteins for LPIN2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005829cytosol IEA--

    LPIN2 for ontologies           About GeneDecksing



    LPIN2 Antibody Products: 
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    Cloud-Clone Corp. CLIAs for LPIN2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: Lipin2 
    Lipid phosphate phosphatases

    5 InterPro protein domains:
     IPR013209 LNS2
     IPR007651 Lipin_N
     IPR023214 HAD-like_dom
     IPR026058 LIPIN
     IPR026744 LPIN2

    Graphical View of Domain Structure for InterPro Entry Q92539

    ProtoNet protein and cluster: Q92539

    1 Blocks protein domain: IPB007651 Lipin

    UniProtKB/Swiss-Prot: LPIN2_HUMAN, Q92539
    Domain: Contains 1 Asp-Xaa-Asp-Xaa-Thr (DXDXT) motif, a catalytic motif known to be essential for phosphatidate
    phosphatase activity (By similarity)
    Domain: Contains one Leu-Xaa-Xaa-Ile-Leu (LXXIL) motif, a motif known to be a transcriptional binding motif (By
    similarity)
    Similarity: Belongs to the lipin family


    LPIN2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LPIN2_HUMAN, Q92539
    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)
    Catalytic activity: A 1,2-diacylglycerol 3-phosphate + H(2)O = a 1,2-diacyl-sn-glycerol + phosphate
    Enzyme regulation: Inhibited by N-ethylmaleimide (By similarity)

         Enzyme Number (IUBMB): EC 3.1.3.41

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity ISS--
    GO:0008195phosphatidate phosphatase activity ISS--
         
    LPIN2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for LPIN2:
     Increased S DNA content 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for LPIN2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for LPIN2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LPIN2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LPIN2 

    miRNA
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    8/53 QIAGEN miScript miRNA Assays for microRNAs that regulate LPIN2 (see all 53):
    hsa-miR-2052 hsa-miR-549 hsa-miR-579 hsa-miR-4291 hsa-miR-19b-2* hsa-miR-429 hsa-miR-330-5p hsa-miR-513a-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LPIN2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for LPIN2 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Glycerophospholipid biosynthesis
    Glycerophospholipid biosynthesis0.64
    Glycerophospholipid metabolism0.62
    Phospholipid metabolism0.64
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    3Synthesis of PE
    Synthesis of PE0.38
    Synthesis of PC0.30
    4Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Fatty acid, triacylglycerol, and ketone body metabolism0.52
    5Fatty Acyl-CoA Biosynthesis
    Triglyceride Biosynthesis0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for LPIN2
        Adipogenesis

    5/8        Reactome Pathways for LPIN2 (see all 8)
        Metabolism
    Phospholipid metabolism
    Triglyceride Biosynthesis
    Synthesis of PC
    Fatty acid, triacylglycerol, and ketone body metabolism


    3         Kegg Pathways  (Kegg details for LPIN2):
        Glycerolipid metabolism
    Glycerophospholipid metabolism
    Metabolic pathways


    LPIN2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for LPIN2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/12 Interacting proteins for LPIN2 (ENSP000002615964) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGPAT2ENSP000003607614STRING: ENSP00000360761
    AGPAT3ENSP000002915724STRING: ENSP00000291572
    AGPAT4ENSP000003140364STRING: ENSP00000314036
    AGPAT5ENSP000002855184STRING: ENSP00000285518
    AGPAT6ENSP000003801844STRING: ENSP00000380184
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006629lipid metabolic process ISS--
    GO:0006631fatty acid metabolic process IEA--
    GO:0006644phospholipid metabolic process TAS--
    GO:0006646phosphatidylethanolamine biosynthetic process TAS--

    LPIN2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for LPIN2

    Search CenterWatch for drugs/clinical trials and news about LPIN2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for LPIN2 gene: 
    NM_014646.2  

    Unigene Cluster for LPIN2:

    Lipin 2
    Hs.132342  [show with all ESTs]
    Unigene Representative Sequence: BC152448
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261596(uc002klo.3) ENST00000584294 ENST00000584915 ENST00000581568

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LPIN2
    8/53 QIAGEN miScript miRNA Assays for microRNAs that regulate LPIN2 (see all 53):
    hsa-miR-2052 hsa-miR-549 hsa-miR-579 hsa-miR-4291 hsa-miR-19b-2* hsa-miR-429 hsa-miR-330-5p hsa-miR-513a-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LPIN2
    Clone
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LPIN2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LPIN2
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LPIN2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LPIN2

    Additional mRNA sequence: 

    BC152448.1 D87436.1 

    14 DOTS entries:

    DT.219121  DT.95171838  DT.100795583  DT.91971776  DT.121102197  DT.453379  DT.95349589  DT.100795580 
    DT.121102086  DT.219122  DT.91652054  DT.92442476  DT.99982753  DT.99985642 

    24/304 AceView cDNA sequences (see all 304):

    BM475522 F03487 BX642706 AA011194 Z39702 T86969 BX956161 AI867288 
    AL709825 N50438 BM684519 AA652612 AL603090 BE855560 BQ771819 Z46066 
    AA347911 D87436 BF437571 NM_014646 BU741884 AA827651 BF939498 BE463741 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    LPIN2 expression in normal human tissues (normalized intensities)      LPIN2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGGCTGCCT
    LPIN2 Expression
    About this image


    LPIN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
     
     Dermis (Integumentary System)
             Guard Dermal Papilla Cells Dermal Papilla
     
     Liver (Hepatobiliary System)

    See LPIN2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LPIN2

    SOURCE GeneReport for Unigene cluster: Hs.132342

    UniProtKB/Swiss-Prot: LPIN2_HUMAN, Q92539
    Tissue specificity: Expressed in liver, lung, kidney, placenta, spleen, thymus, lymph node, prostate, testes,
    small intestine, and colon

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LPIN2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for LPIN2 gene from 8/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lpin21 , 5 lipin 21, 5 86.64(n)1
    90.26(a)1
      17 (41.87 cM)5
    648981  NM_001164885.11  NP_001158357.11 
     711825605 
    chicken
    (Gallus gallus)
    Aves LPIN21 lipin 2 76.09(n)
    82.45(a)
      421059  NM_001006386.3  NP_001006386.2 
    lizard
    (Anolis carolinensis)
    Reptilia LPIN26
    Uncharacterized protein
    78(a)
    1 ↔ 1
    4(42613174-42637070)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC686312 hypothetical protein MGC68631 75.46(n)    BC060016.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.64022 Transcribed sequence with moderate similarity to protein more 76.64(n)    CF997074.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG87093   -- 40(a)   44B5   --
    worm
    (Caenorhabditis elegans)
    Secernentea H37A05.13   -- 42(a)   V(13653210-13656602)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PAH16
    Mg2+-dependent phosphatidate (PA) phosp...
    22(a)
    1 → many
    XIII(590040-592628)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LPIN2 gene
    LPIN32  LPIN12  
    3 SIMAP similar genes for LPIN2 using alignment to 3 protein entries:     LPIN2_HUMAN (see all proteins):
    LPIN1    DKFZp781P1796    LPIN3

    LPIN2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2224 SNPs in LPIN2 are shown (see all 2224)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0238174
    Majeed syndrome (MAJEEDS)4--see VAR_0238172 S L mis40--------
    rs346766911,2
    C,Fnon-pathogenic12927533(-) CGAACC/TTCCTC 2 P L mis13Minor allele frequency- T:0.00NA EU 5953
    rs803388051,2
    C,Fnon-pathogenic12927585(-) CCAGAG/TCCCTG 2 A S mis12Minor allele frequency- T:0.00NA EU 5873
    rs803388081,2
    Cpathogenic12911764(-) CACAGC/GTACCT 1 -- spd10--------
    rs803388071,2
    Cpathogenic12911891(-) CTGCTC/TGGCTC 2 S L mis10--------
    rs803388061,2
    Cpathogenic12940814(-) GACAC-/ATGTGAT 2 * C fra10--------
    rs175554421,2
    C,F,Huntested12911869(-) ATGGCC/TGACAT 2 A syn1 ese39Minor allele frequency- T:0.01NA NS EA EU 6419
    rs1048955001,2
    C,Funtested12918821(-) CTGGAC/TTTATA 2 L F mis12Minor allele frequency- T:0.00NA EU 5777
    rs1048955011,2
    C,Funtested12927417(-) CGTCAA/GAGAAG 2 K E mis12Minor allele frequency- G:0.00NA EU 5867
    rs38409061,2
    C--2880624(-) GGGAA-/AGCACA 1 -- ut313Minor allele frequency- A:0.34MN EA 1260

    HapMap Linkage Disequilibrium report for LPIN2 (2916992 - 3013313 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for LPIN2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2716683CNV Deletion23290073
    esv1119374CNV Deletion17803354
    esv2662483CNV Deletion23128226
    esv2661655CNV Deletion23128226
    esv2716682CNV Deletion23290073
    nsv2189CNV Loss18451855


    Human Gene Mutation Database (HGMD): LPIN2

    Locus Specific Mutation Databases (LSDB): LPIN2
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605519   
    OMIM disorders: 609628  
    UniProtKB/Swiss-Prot: LPIN2_HUMAN, Q92539
  • 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). Note=The disease is caused by mutations affecting the gene represented in this entry

  • 17 diseases for LPIN2:    About MalaCards
    majeed syndrome    chronic recurrent multifocal osteomyelitis    sapho syndrome    osteomyelitis
    hypochromic microcytic anemia    microcytic anemia    hypertriglyceridemia    lipodystrophy
    insulin resistance    congenital dyserythropoietic anemia    myopia    glucose intolerance
    anemia    atherosclerosis    obesity    hepatitis
    prostatitis

    2 diseases from the University of Copenhagen DISEASES database for LPIN2:
    Osteomyelitis     SAPHO syndrome

    LPIN2 for disorders           About GeneDecksing

    GeneTests: LPIN2
    GeneReviews: LPIN2
    Genetic Association Database (GAD): LPIN2
    Human Genome Epidemiology (HuGE) Navigator: LPIN2 (3 documents)

    Export disorders for LPIN2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for LPIN2 gene, integrated from 9 sources (see all 35):
    (articles sorted by number of sources associating them with LPIN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 9039502)1, 2, 3 Nagase T....Nomura N. (1996)
    2. Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. (PubMed id 21490949)1, 4 Sim X....Tai E.S. (2011)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. Genetic susceptibility factors in a cohort of 38 pati ents with SAPHO syndrome: a study of PSTPIP2, NOD2, and LPIN2 genes. (PubMed id 20032092)1, 4 Hurtado-Nedelec M....GAcrard B. (2010)
    5. LPIN2 is associated with type 2 diabetes, glucose metabolism, and body composition. (PubMed id 17804763)1, 4 Aulchenko Y.S....van Duijn C.M. (2007)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    7. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). (PubMed id 15994876)1, 2 Ferguson P.J.... El-Shanti H. (2005)
    8. Lipodystrophy in the fld mouse results from mutation of a new gene encoding a nuclear protein, lipin. (PubMed id 11138012)1, 3 Peterfy M....Reue K. (2001)
    9. A conserved serine residue is required for the phosph atidate phosphatase activity but not the transcriptional coactivator functions of lipin-1 and lipin-2. (PubMed id 19717560)1, 9 Donkor J....Reue K. (2009)
    10. Evaluation of Lipin 2 as a candidate gene for autosomal dominant 1 high-grade myopia. (PubMed id 15862761)1, 9 Zhou J. and Young T.L. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9663 HGNC: 14450 AceView: LPIN2 Ensembl:ENSG00000101577 euGenes: HUgn9663
    ECgene: LPIN2 Kegg: 9663 H-InvDB: LPIN2

    (According to HUGE)
    About This Section
    HUGE: KIAA0249

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for LPIN2 Pharmacogenomics, SNPs, Pathways
    INFEVERShttp://fmf.igh.cnrs.fr/ISSAID/infevers/search.php?n=7

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for LPIN2 gene:
    Search GeneIP for patents involving LPIN2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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