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

LRRC18 Gene

protein-coding   GIFtS: 42
GCID: GC10M050117

Leucine Rich Repeat Containing 18

  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
Leucine Rich Repeat Containing 181 2
UNQ9332
UNQ93382
VKGE93382
Leucine-Rich Repeat-Containing Protein 182

External Ids:    HGNC: 231991   Entrez Gene: 4743542   Ensembl: ENSG000001653837   UniProtKB: Q8N4563   

Export aliases for LRRC18 gene to outside databases

Previous GC identifers: GC10U900454 GC10M049788 GC10M044382


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

GeneCards Summary for LRRC18 Gene: 
LRRC18 (leucine rich repeat containing 18) is a protein-coding gene. Diseases associated with LRRC18 include systemic lupus erythematosus, and lupus erythematosus. An important paralog of this gene is LRRC8E.

UniProtKB/Swiss-Prot: LRC18_HUMAN, Q8N456
Function: May be involved in the regulation of spermatogenesis and sperm maturation (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_000010.10  NT_030059.13  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LRRC18 gene promoter:
         Pbx1a   AML1a   p300   E47   MZF-1   Nkx6-1   FOXJ2 (long isoform)   Hand1   FOXJ2   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLRRC18 promoter sequence
   Search SABiosciences Chromatin IP Primers for LRRC18

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LRRC18


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

Entrez Gene cytogenetic band: 10q11.23   Ensembl cytogenetic band:  10q11.23   HGNC cytogenetic band: 10q11.23

LRRC18 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LRRC18 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M050117:  view genomic region     (about GC identifiers)

Start:
50,117,528 bp from pter      End:
50,143,242 bp from pter
Size:
25,715 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: LRC18_HUMAN, Q8N456 (See protein sequence)
Recommended Name: Leucine-rich repeat-containing protein 18  
Size: 261 amino acids; 29737 Da
Subcellular location: Cytoplasm (By similarity)
Secondary accessions: Q6UY02
Alternative splicing: 2 isoforms:  Q8N456-1   Q8N456-2   

Explore the universe of human proteins at neXtProt for LRRC18: NX_Q8N456

Explore proteomics data for LRRC18 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N456

  • LRRC18 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LRRC18 Protein Expression
    REFSEQ proteins: NP_001006940.3  
    ENSEMBL proteins: 
     ENSP00000363275   ENSP00000298124  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    LRRC18 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
    2 InterPro protein domains:
     IPR001611 Leu-rich_rpt
     IPR025875 Leu-rich_rpt_4

    Graphical View of Domain Structure for InterPro Entry Q8N456

    ProtoNet protein and cluster: Q8N456

    UniProtKB/Swiss-Prot: LRC18_HUMAN, Q8N456
    Similarity: Contains 7 LRR (leucine-rich) repeats


    LRRC18 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: LRC18_HUMAN, Q8N456
    Function: May be involved in the regulation of spermatogenesis and sperm maturation (By similarity)

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    LRRC18 for ontologies           About GeneDecksing


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    SwitchGear 3'UTR luciferase reporter plasmidLRRC18 3' UTR sequence
    Inhib. RNA
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    (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 LRRC18

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/9 Interacting proteins for LRRC18 (Q8N4562, 3 ENSP000002981244) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCTD17Q8N5Z52, 3, ENSP000003843914MINT-68097 I2D: score=4 STRING: ENSP00000384391
    CFHR3ENSP000003563954STRING: ENSP00000356395
    COL11A1ENSP000003511634STRING: ENSP00000351163
    ENSG00000236342ENSP000004125534STRING: ENSP00000412553
    INADLENSP000003602004STRING: ENSP00000360200
    About this table

    (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 LRRC18 (LRC18)

    Search CenterWatch for drugs/clinical trials and news about LRRC18 / LRC18

    (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,
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    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 LRRC18 gene: 
    NM_001006939.3  

    Unigene Cluster for LRRC18:

    Leucine rich repeat containing 18
    Hs.202438  [show with all ESTs]
    Unigene Representative Sequence: BC036722
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374160(uc001jhd.3) ENST00000298124(uc001jhe.1)
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidLRRC18 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LRRC18
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LRRC18

    Additional mRNA sequence: 

    AY358137.1 BC036722.1 

    2 DOTS entries:

    DT.75140908  DT.75132912 

    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

    LRRC18 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    LRRC18 Expression
    About this image


    See LRRC18 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LRRC18

    SOURCE GeneReport for Unigene cluster: Hs.202438
        SABiosciences Custom PCR Arrays for LRRC18
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRRC18

    (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 LRRC18 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lrrc181 , 5 leucine rich repeat containing 181, 5 83.14(n)1
    81.99(a)1
      14 (19.61 cM)5
    675801  NM_026253.41  NP_080529.11 
     329913825 
    chicken
    (Gallus gallus)
    Aves LRRC186
    Uncharacterized protein
    60(a)
    1 ↔ 1
    6(18063032-18063811)
    lizard
    (Anolis carolinensis)
    Reptilia LRRC186
    Uncharacterized protein
    68(a)
    1 ↔ 1
    GL343297.1(673216-673986)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5689671 leucine-rich repeat-containing protein 18-like 59.26(n)
    55.56(a)
      568967  XM_692327.4  XP_697419.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG103076
    --
    13(a)
    1 → many
    2R(17576417-17577758)


    ENSEMBL Gene Tree for LRRC18 (if available)
    TreeFam Gene Tree for LRRC18 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LRRC18 gene
    LRRC8E2  LRCH22  RSU12  LRSAM12  LRRC8A2  ENSG000002719492  PIDD2  LRCH32  
    LRRC8D2  LRRC572  LRRC282  LRRC8B2  LRRC8C2  LRCH42  LRCH12  

    LRRC18 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

    2 SNPs in LRRC18 are shown    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0281614
    ----see VAR_0281612 G V mis40--------
    VAR_0281624
    ----see VAR_0281622 R H mis40--------

    HapMap Linkage Disequilibrium report for LRRC18 (50117528 - 50143242 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for LRRC18:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv517287CNV Loss19592680
    nsv895365CNV Loss21882294
    nsv895371CNV Gain21882294
    nsv831865CNV Gain17160897
    nsv895369CNV Gain21882294
    nsv7203OTHER Inversion18451855

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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
    3 diseases for LRRC18:    About MalaCards
    systemic lupus erythematosus    lupus erythematosus    atherosclerosis


    LRRC18 for disorders           About GeneDecksing

    Genetic Association Database (GAD): LRRC18

    Export disorders for LRRC18 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 LRRC18 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with LRRC18)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genome-wide association study in a Chinese Han popula tion identifies nine new susceptibility loci for systemic lupus erythematosus. (PubMed id 19838193)1, 4 Han J.W....Zhang X.J. (2009)
    2. Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study. (PubMed id 17903303)1, 4 O'Donnell C.J....Demissie S. (2007)
    3. 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)
    4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    6. Identification of a novel testis-specific gene mtLR1, which is expressed at specific stages of mouse spermatogenesis. (PubMed id 15707978)1 Nie D.S....Lu G.X. (2005)
    7. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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)
    About This Section
    Entrez Gene: 474354 HGNC: 23199 Ensembl:ENSG00000165383 euGenes: HUgn474354 ECgene: LRRC18
    H-InvDB: LRRC18

    (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 LRRC18 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 LRRC18 gene:
    Search GeneIP for patents involving LRRC18

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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     Proteins for LRRC18
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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