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LPIN2 Gene

protein-coding   GIFtS: 64
GCID: GC18M002906

Lipin 2

  See LPIN2-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)
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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   

Export aliases for LPIN2 gene to outside databases

Previous GC identifers: GC18P003176 GC18M002904


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 chronic recurrent multifocal osteomyelitis, and majeed syndrome. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000018.9  NT_010859.15  NC_018929.2  
Regulatory elements:
   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 Chromatin IP Primers for LPIN2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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)
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See LPIN2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055461.1  
    ENSEMBL proteins: 
     ENSP00000261596   ENSP00000463026   ENSP00000463810  
    Reactome Protein details: Q92539

    LPIN2 Human Recombinant Protein Products:

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    Novus Biologicals LPIN2 Lysate
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for LPIN2

     
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    antibodies-online peptides for LPIN2

    LPIN2 Antibody Products:

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    antibodies-online antibodies for LPIN2 (29 products) 

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

    4 InterPro protein domains:
     IPR013209 LNS2
     IPR007651 Lipin_N
     IPR023214 HAD-like_dom
     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


    Find genes that share domains with LPIN2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity ISS--
    GO:0008195phosphatidate phosphatase activity ISS--
         
    Find genes that share ontologies with LPIN2           About GenesLikeMe


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

         1 MGI phenotypic allele for Lpin2 (no phenotypes)

    Find genes that share phenotypes with LPIN2           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for LPIN2

    miRNA
    Products:
        
    miRTarBase miRNAs that target LPIN2:
    hsa-mir-769-5p (MIRT039153), hsa-mir-335-5p (MIRT017765)

    Block miRNA regulation of human, mouse, rat LPIN2 using miScript Target Protectors
    Selected qRT-PCR 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
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    Predesigned siRNA for gene silencing in human, mouse, rat LPIN2

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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LPIN2

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LPIN2_HUMAN, Q92539: 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum4
    nucleus3
    cytosol2
    extracellular1

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    Find genes that share ontologies with LPIN2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for LPIN2 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Glycerophospholipid biosynthesis
    Glycerophospholipid biosynthesis0.64
    Synthesis of PC0.00
    Phospholipid metabolism0.64
    Synthesis of PE0.00
    Glycerophospholipid metabolism0.62
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    4Triglyceride Biosynthesis
    Triglyceride Biosynthesis
    5Glycerolipid metabolism
    Glycerolipid metabolism


    Find genes that share SuperPaths with LPIN2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for LPIN2
        Adipogenesis

    4 Reactome Pathways for LPIN2
        Synthesis of PE
    Depolymerisation of the Nuclear Lamina
    Triglyceride Biosynthesis
    Synthesis of PC


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for LPIN2
    Interactions:

        Search GeneGlobe Interaction Network for LPIN2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for LPIN2 (ENSP000002615964) via UniProtKB, MINT, STRING, and/or I2D (see all 55)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LPCAT1ENSP000002834154STRING: ENSP00000283415
    LPCAT4ENSP000003173004STRING: ENSP00000317300
    CTDNEP1ENSP000003217324STRING: ENSP00000321732
    DOLKENSP000003616674STRING: ENSP00000361667
    NUP107ENSP000002291794STRING: ENSP00000229179
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

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

    Find genes that share ontologies with LPIN2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
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    Block miRNA regulation of human, mouse, rat LPIN2 using miScript Target Protectors
    Selected qRT-PCR 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
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      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 

    Selected AceView cDNA sequences (see all 304):

    AA757610 AW206830 AA827651 BQ771819 BG150397 Z39702 BM459731 AL603090 
    AA347911 H63278 AI033849 BM719116 AA886748 BM726943 Z46066 AW514992 
    AA652612 F10305 BE220384 AA618591 H48024 T32677 AA279235 H53124 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    LPIN2 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    LPIN2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LPIN2 Protein Expression

    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:
     

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

    Orthologs for LPIN2 gene from Selected species (see all 17)    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 76.3(n)
    82.67(a)
      421059  NM_001006386.3  NP_001006386.2 
    lizard
    (Anolis carolinensis)
    Reptilia LPIN26
    lipin 2
    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...
    25(a)
    1 → many
    XIII(590040-592628) YMR165C


    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)
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    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

    Find genes that share paralogs with LPIN2           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LPIN2 (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

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 9 diseases for LPIN2:    
    About MalaCards
    chronic recurrent multifocal osteomyelitis    majeed syndrome    sapho syndrome    myopia-2
    osteomyelitis    fuchs' endothelial dystrophy    lipodystrophy    hypertriglyceridemia
    insulin resistance

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

    Find genes that share disorders with LPIN2           About GenesLikeMe

    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)
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    PubMed articles for LPIN2 gene, integrated from 10 sources (see all 36):
    (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. (DNA Res. 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. (PLoS Genet. 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. (Mol. Med. 2010)
    4. Genetic susceptibility factors in a cohort of 38 patients with SAPHO syndrome: a study of PSTPIP2, NOD2, and LPIN2 genes. (PubMed id 20032092)1, 4 Hurtado-Nedelec M....GAcrard B. (J. Rheumatol. 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. (Diabetes 2007)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 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. (J. Med. Genet. 2005)
    8. Lipodystrophy in the fld mouse results from mutation of a new gene encoding a nuclear protein, lipin. (PubMed id 11138012)1, 3 PActerfy M....Reue K. (Nat. Genet. 2001)
    9. A conserved serine residue is required for the phosphatidate phosphatase activity but not the transcriptional coactivator functions of lipin-1 and lipin-2. (PubMed id 19717560)1, 9 Donkor J....Reue K. (J. Biol. Chem. 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. (Gene 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    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)
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    Entrez Gene: 9663 HGNC: 14450 AceView: LPIN2 Ensembl:ENSG00000101577 euGenes: HUgn9663
    ECgene: LPIN2 Kegg: 9663 H-InvDB: LPIN2

    (According to HUGE)
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    HUGE: KIAA0249

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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