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

LIPH Gene

protein-coding   GIFtS: 53
GCID: GC03M185224

Lipase, Member H

  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

Aliases
Lipase, Member H1 2     AH2
Membrane-Associated Phosphatidic Acid-Selective Phospholipase A1-Alpha2 3     Lipase H2
Phospholipase A1 Member B2 3     Lipase Member H2
LPDLR2 3     mPA-PLA12
PLA1B2 3     Membrane-Bound Phosphatidic Acid-Selective Phospholipase A12
LPD Lipase-Related Protein2 3     EC 3.1.1.-3
MPA-PLA1 Alpha2 3     MPAPLA13
ARWH22 5     EC 3.1.18
LAH22 5     EC 3.1.1.38

External Ids:    HGNC: 184831   Entrez Gene: 2008792   Ensembl: ENSG000001638987   OMIM: 6073655   UniProtKB: Q8WWY83   

Export aliases for LIPH gene to outside databases

Previous GC identifers: GC03M182017 GC03M186408 GC03M186627 GC03M186546 GC03M186708 GC03M182635


(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 LIPH Gene:
This gene encodes a membrane-bound member of the mammalian triglyceride lipase family. It catalyzes the production
of 2-acyl lysophosphatidic acid (LPA), which is a lipid mediator with diverse biological properties that include
platelet aggregation, smooth muscle contraction, and stimulation of cell proliferation and motility. (provided by
RefSeq, Jul 2008)

GeneCards Summary for LIPH Gene: 
LIPH (lipase, member H) is a protein-coding gene. Diseases associated with LIPH include hypotrichosis, localized, autosomal recessive 2, and woolly hair, autosomal recessive 2 with or without hypotrichosis. GO annotations related to this gene include phospholipase activity and heparin binding. An important paralog of this gene is LIPC.

UniProtKB/Swiss-Prot: LIPH_HUMAN, Q8WWY8
Function: Hydrolyzes specifically phosphatidic acid (PA) to produce 2-acyl lysophosphatidic acid (LPA; a potent
bioactive lipid mediator) and fatty acid. Does not hydrolyze other phospholipids, like phosphatidylserine (PS),
phosphatidylcholine (PC) and phosphatidylethanolamine (PE) or triacylglycerol (TG)

Gene Wiki entry for LIPH Gene


(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_000003.11  NC_018914.2  NT_005612.16  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for LIPH
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLIPH promoter sequence
   Search SABiosciences Chromatin IP Primers for LIPH

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


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

Entrez Gene cytogenetic band: 3q27   Ensembl cytogenetic band:  3q27.2   HGNC cytogenetic band: 3q27

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M185224:  view genomic region     (about GC identifiers)

Start:
185,224,050 bp from pter      End:
185,270,401 bp from pter
Size:
46,352 bases      Orientation:
minus strand

(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: LIPH_HUMAN, Q8WWY8 (See protein sequence)
Recommended Name: Lipase member H precursor  
Size: 451 amino acids; 50859 Da
Subcellular location: Secreted. Membrane; Peripheral membrane protein
Sequence caution: Sequence=BAB85023.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A2IBA7 Q8TEC7

Explore the universe of human proteins at neXtProt for LIPH: NX_Q8WWY8

Explore proteomics data for LIPH at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WWY8

  • 4/7 DME Specific Peptides for LIPH (Q8WWY8) (see all 7)
     GVSLGAH  RLDPSDA  YFKCDHQ  GLDPAGP 

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

    LIPH Protein Expression
    REFSEQ proteins: NP_640341.1  
    ENSEMBL proteins: 
     ENSP00000296252   ENSP00000396384   ENSP00000390228   ENSP00000408218   ENSP00000414311  

    Human Recombinant Protein Products for LIPH: 
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    OriGene Protein Over-expression Lysate for LIPH
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    Novus Biologicals LIPH Proteins
    Novus Biologicals LIPH Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LIPH 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005615extracellular space IDA12963729
    GO:0005886plasma membrane IDA12963729

    LIPH for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR000734 Lipase
     IPR016272 Lipoprotein_lipase_LIPH
     IPR013818 Lipase_N

    Graphical View of Domain Structure for InterPro Entry Q8WWY8

    ProtoNet protein and cluster: Q8WWY8

    1 Blocks protein domain: IPB000734 Lipase

    UniProtKB/Swiss-Prot: LIPH_HUMAN, Q8WWY8
    Similarity: Belongs to the AB hydrolase superfamily. Lipase family


    LIPH 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: LIPH_HUMAN, Q8WWY8
    Function: Hydrolyzes specifically phosphatidic acid (PA) to produce 2-acyl lysophosphatidic acid (LPA; a potent
    bioactive lipid mediator) and fatty acid. Does not hydrolyze other phospholipids, like phosphatidylserine (PS),
    phosphatidylcholine (PC) and phosphatidylethanolamine (PE) or triacylglycerol (TG)
    Enzyme regulation: Inhibited by sodium vanadate

         Enzyme Numbers (IUBMB): EC 3.1.1.32 EC 3.1.12 EC 3.1.1.-1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004620phospholipase activity IDA12963729
    GO:0008201heparin binding IDA12963729
    GO:0016787hydrolase activity ----
         
    LIPH for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Liph):
     integument  pigmentation 

    LIPH for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Liphtm1Aoki for LIPH

       inGenious Targeting Laboratory - Custom generated mouse model solutions for LIPH 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for LIPH

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

    miRNA
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    8/23 QIAGEN miScript miRNA Assays for microRNAs that regulate LIPH (see all 23):
    hsa-miR-345 hsa-let-7d hsa-miR-202 hsa-let-7c hsa-miR-138-2* hsa-let-7g hsa-let-7a hsa-miR-489
    SwitchGear 3'UTR luciferase reporter plasmidLIPH 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LIPH


    (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




    Interactions:

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

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for LIPH (ENSP000002962524) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process ----
    GO:0016042lipid catabolic process IDA12963729

    LIPH 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

    LIPH for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for LIPH

    10/23 HMDB Compounds for LIPH (see all 23)    About this table
    CompoundSynonyms CAS #PubMed Ids
    LPA(0:0/16:0)Lysophosphatidic acid(16:0) (see all 6)----
    LPA(0:0/18:0)2-octadecanoyl-phosphatidic acid (see all 6)----
    LPA(0:0/18:1(9Z))LPA(18:1) (see all 10)----
    LPA(0:0/18:2(9Z,12Z))LPA(0:0/18:2n6) (see all 10)----
    LPA(16:0/0:0)Lysophosphatidic acid(16:0/0:0) (see all 14)----
    LPA(18:0/0:0)1-octadecanoyl-phosphatidic acid (see all 6)----
    LPA(18:0e/0:0)[(2R)-2-hydroxy-3-octadecoxy-propyl] dihydrogen phosphate;1-Octadecyl-sn-glycero-3-phosphate (see all 2)----
    LPA(18:1(9Z)/0:0)1-oleoyl-glycero-3-phosphate (see all 26)----
    LPA(18:2(9Z,12Z)/0:0)LPA(18:2w6/0:0) (see all 10)----
    LPA(P-16:0e/0:0)1-(1Z-hexadecenyl)-sn-glycero-3-phosphate;LysoPA(dm16:0e) ----

    1 Novoseek inferred chemical compound relationship for LIPH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipid 16 4 19818411 (2), 12213196 (1), 19536142 (1)

    Search CenterWatch for drugs/clinical trials and news about LIPH

    (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 LIPH gene: 
    NM_139248.2  

    Unigene Cluster for LIPH:

    Lipase, member H
    Hs.68864  [show with all ESTs]
    Unigene Representative Sequence: NM_139248
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000296252(uc003fpm.3 uc010hyh.3) ENST00000424591 ENST00000435679
    ENST00000452897 ENST00000429510
    miRNA
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    8/23 QIAGEN miScript miRNA Assays for microRNAs that regulate LIPH (see all 23):
    hsa-miR-345 hsa-let-7d hsa-miR-202 hsa-let-7c hsa-miR-138-2* hsa-let-7g hsa-let-7a hsa-miR-489
    SwitchGear 3'UTR luciferase reporter plasmidLIPH 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for LIPH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LIPH
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LIPH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LIPH
    Sirion Biotech Customized lentivirus for stable overexpression of LIPH 
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    OriGene qPCR primer pairs and template standards for LIPH
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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat LIPH
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LIPH
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LIPH

    Additional mRNA sequence: 

    AK074229.1 AK122651.1 AK298380.1 AY036912.1 AY093498.1 BC064941.1 EF186228.1 EF186229.1 

    4 DOTS entries:

    DT.40114985  DT.101979127  DT.409410  DT.95119720 

    24/43 AceView cDNA sequences (see all 43):

    BC064941 CK904038 AI733889 AK074229 AW518939 AA367368 AA132946 BX490362 
    BF063937 AI424922 BU175585 AI732452 BI966144 AK122651 AY036912 BE736777 
    BM839230 BI965988 AI732595 BM786493 NM_139248 AI420906 BM752494 BF677759 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for LIPH    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b
    SP1:                    -                                                                           
    SP2:                    -           -     -     -                                                   
    SP3:                                                                                                
    SP4:                                                                          -                     


    ECgene alternative splicing isoforms for LIPH

    (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

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


    LIPH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Testis (Reproductive System)
             XY Germ Cells Testis Cord
     
     Inner Cell Mass (Early Embryonic Tissues)
             Sox17-GFP genetically modified stem cells
     
     Gonad
             XY Germ Cells Testis Cord
     
     Lower Urinary Tract (Urinary System)
             visceral organ/bladder   
     
     Colon (Gastrointestinal Tract)

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

    SOURCE GeneReport for Unigene cluster: Hs.68864

    UniProtKB/Swiss-Prot: LIPH_HUMAN, Q8WWY8
    Tissue specificity: Present in intestine (at protein level). Expressed in colon, prostate, kidney, pancreas,
    ovary, testis, intestine, lung and pancreas. Expressed at lower level in brain, spleen and heart. In hair, it is
    prominently expressed in hair follicles, including the stem cell-rich bulge region

        SABiosciences Custom PCR Arrays for LIPH
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LIPH
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LIPH

    (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.

    Orthologs for LIPH gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Liph1 , 5 lipase, member H1, 5 80.93(n)1
    77.83(a)1
      16 (12.95 cM)5
    2397591  NM_001083894.11  NP_001077363.11 
     219538265 
    chicken
    (Gallus gallus)
    Aves LIPH1 lipase, member H 66.59(n)
    63.18(a)
      424874  XM_422687.3  XP_422687.3 
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC687212 hypothetical protein MGC68721 72.13(n)    BC060482.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb08f082 Transcribed sequence with weak similarity to protein more 80.23(n)    CK018413.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG103576
    CG101166
    (see all 24)
    --
    26(a)
    25(a)
    (see all 24)
    possible ortholog
    possible ortholog
    (see all 24)
    3L(3615382-3616682)
    3L(13449308-13450338)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LIPH gene
    LIPC2  LIPG2  PNLIPRP32  PNLIPRP22  LPL2  PNLIP2  LIPI2  PLA1A2  
    PNLIPRP12  
    9 SIMAP similar genes for LIPH using alignment to 6 protein entries:     LIPH_HUMAN (see all proteins):
    LIPC    LIPI    PNLIPRP3    LOC375108    PNLIPRP1    LIPG
    PLA1A    PNLIPRP2    PNLIP

    LIPH 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

    10/1169 SNPs in LIPH are shown (see all 1169)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0590504
    Woolly hair autosomal recessive 2 (ARWH2)4--see VAR_0590502 W R mis40--------
    rs629760611,2
    C--182647218(+) ATCTC-/AAAAA 
            
    AAAAA
    1 -- int11Minor allele frequency- AAAAA:0.00NA 2
    rs609571811,2
    C--182650065(+) GAAAG-/AAAGAAA
    GAAAGAAAG
    GTGGC
    1 -- int11Minor allele frequency- AAAGAAAGAAAGAAAG:0.00NA 2
    rs716749311,2
    C--182653946(+) ATAAG-/ATAAA 
            
    ATAAA
    1 -- int10--------
    rs2017127491,2
    C--182654026(+) TATAA-/TATAAT
            
    ATAAT
    1 -- int10--------
    rs50188641,2
    C--182654040(+) TATAAT/AATAAA 1 -- int11Minor allele frequency- A:0.50NA 2
    rs114577021,2
    C--182655662(+) GAAAG-/A/AAGAAAGAAAGAAAGAAAGA/A
    AGAAAGAAAGAAAGAAAGAAAGAAAGA
    AAGAA
    1 -- int1 trp30--------
    rs2011580091,2
    C--182668851(+) TCTTTC/TTTTTT 1 -- int10--------
    rs1123844211,2
    C--185093799(+) AAAAAA/GAGAGA 1 -- ds50010--------
    rs1415970211,2
    --185093880(+) GAGGAA/GGTGAC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for LIPH (185224050 - 185270401 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for LIPH:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1283224CNV Insertion17803354
    nsv829818CNV Loss17160897
    esv275409CNV Loss21479260
    nsv237078CNV Loss16902084


    Human Gene Mutation Database (HGMD): LIPH
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing LIPH
    DNA2.0 Custom Variant and Variant Library Synthesis for LIPH

    (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: 607365   
    OMIM disorders: 604379  
    UniProtKB/Swiss-Prot: LIPH_HUMAN, Q8WWY8
  • Hypotrichosis 7 (HYPT7) [MIM:604379]: A condition characterized by the presence of less than the normal
    amount of hair. Affected individuals have sparse or absent scalp, axillary and body hair and sparse eyebrows and
    eyelashes. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Woolly hair autosomal recessive 2 (ARWH2) [MIM:604379]: A hair shaft disorder characterized by fine and
    tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly
    and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies,
    including trichorrhexis nodosa and tapered ends. Some individuals may present with hypotrichosis. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 13 diseases for LIPH:    About MalaCards
    hypotrichosis, localized, autosomal recessive 2    woolly hair, autosomal recessive 2 with or without hypotrichosis    myofascial pain syndrome    woolly hair, autosomal recessive
    alopecia universalis    autosomal recessive hypotrichosis    hypotrichosis simplex    hypotrichosis
    monilethrix    alopecia    paine syndrome    hypertriglyceridemia
    prostatitis

    2 diseases from the University of Copenhagen DISEASES database for LIPH:
    Hypotrichosis     Monilethrix

    LIPH for disorders           About GeneDecksing


    Export disorders for LIPH 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 LIPH gene, integrated from 9 sources (see all 34):
    (articles sorted by number of sources associating them with LIPH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Lipase h, a new member of the triglyceride lipase family synthesized by the intestine. (PubMed id 12213196)1, 2, 3, 9 Jin W.... Rader D. (2002)
    2. A novel phosphatidic acid-selective phospholipase A1 that produces lysophosphatidic acid. (PubMed id 12063250)1, 2, 3, 9 Sonoda H.... Arai H. (2002)
    3. Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. (PubMed id 17095700)1, 2, 9 Kazantseva A.... Rogaev E.I. (2006)
    4. Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2). (PubMed id 19167195)1, 2, 9 Naz G.... Ahmad W. (2009)
    5. Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. (PubMed id 18830268)1, 2, 9 Shimomura Y....Christiano A.M. (2009)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans. (PubMed id 12719377)1, 2 Wen X.-Y.... Stewart A.K. (2003)
    9. Biochemical and molecular characterization of two phosphatidic acid- selective phospholipase A1s, mPA-PLA1alpha and mPA-PLA1beta. (PubMed id 12963729)1, 2 Hiramatsu T.... Arai H. (2003)
    10. In vitro analysis of LIPH mutations causing hypotrich osis simplex: evidence confirming the role of lipase H and lysophosphatidic aci d in hair growth. (PubMed id 19536142)1, 9 Pasternack S.M....Betz R.C. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 200879 HGNC: 18483 AceView: LIPH Ensembl:ENSG00000163898 euGenes: HUgn200879
    ECgene: LIPH H-InvDB: LIPH

    (According to HUGE)
    About This Section
      --

    (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 LIPH Pharmacogenomics, SNPs, Pathways

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

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



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