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

LRRC39 Gene

protein-coding   GIFtS: 43
GCID: GC01M100614

leucine rich repeat containing 39

  Search for LRRC39
in our new
 Human Malady Compendium 
Biological research products
for LRRC39
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Leucine Rich Repeat Containing 391 2
Densin Hlg2 3
MGC148161
Leucine-Rich Repeat-Containing Protein 392

External Ids:    HGNC: 282281   Entrez Gene: 1274952   Ensembl: ENSG000001224777   UniProtKB: Q96DD03   

Export aliases for LRRC39 gene to outside databases

Previous GC identifers: GC01M100327 GC01M098737


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

Gene Wiki entry for LRRC39


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LRRC39 gene promoter:
         Nkx2-2   SREBP-1c   POU3F2   RORalpha2   SREBP-1b   C/EBPalpha   GATA-1   SREBP-1a   STAT3   Cart-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLRRC39 promoter sequence
   Search SABiosciences Chromatin IP Primers for LRRC39

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LRRC39


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

Entrez Gene cytogenetic band: 1p21.2   Ensembl cytogenetic band:  1p21.2   HGNC cytogenetic band: 1p21.3

LRRC39 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LRRC39 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M100614:  view genomic region     (about GC identifiers)

Start:
100,614,409 bp from pter      End:
100,643,771 bp from pter
Size:
29,363 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: LRC39_HUMAN, Q96DD0 (See protein sequence)
Recommended Name: Leucine-rich repeat-containing protein 39  
Size: 335 amino acids; 38793 Da
Secondary accessions: B3KUD2 D3DT56 Q5VVK7
Alternative splicing: 2 isoforms:  Q96DD0-1   Q96DD0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for LRRC39: NX_Q96DD0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96DD0

  • LRRC39 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_001243314.1  NP_001243315.1  NP_001243316.1  NP_653221.1  

    ENSEMBL proteins: 
     ENSP00000359156   ENSP00000359157   ENSP00000344470  

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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    LRRC39 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR001611 Leu-rich_rpt
     IPR003591 Leu-rich_rpt_typical-subtyp

    Graphical View of Domain Structure for InterPro Entry Q96DD0

    ProtoNet protein and cluster: Q96DD0

    UniProtKB/Swiss-Prot: LRC39_HUMAN, Q96DD0
    Similarity: Contains 9 LRR (leucine-rich) repeats


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    1 GenomeRNAi human phenotype for LRRC39:
     Synthetic lethal with Ras 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for LRRC39

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 LRRC39
    Search CenterWatch for drugs/clinical trials and news about LRRC39 / LRC39 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for LRRC39 gene (4 alternative transcripts): 
    NM_001256385.1  NM_001256386.1  NM_001256387.1  NM_144620.3  

    Unigene Cluster for LRRC39:

    Leucine rich repeat containing 39
    Hs.44277  [show with all ESTs]
    Unigene Representative Sequence: AL832694
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370137(uc001dsw.1 uc001dsz.1) ENST00000370138(uc001dsy.1)
    ENST00000342895(uc001dsx.1)

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    Additional cDNA sequence: 

    AK096892.1 AL832694.1 AL833417.1 AY358131.1 BC009613.1 BC022420.1 

    12 DOTS entries:

    DT.121353233  DT.455305  DT.100749582  DT.95263903  DT.101972907  DT.95255421  DT.314053  DT.95296767 
    DT.212706  DT.97820384  DT.100653913  DT.99984092 

    24/105 AceView cDNA sequences (see all 105):

    AA417843 BX117654 AA446687 H82070 N44638 N29791 N33320 BF726947 
    AA843587 AL711357 AI214827 AK096892 N34751 W06875 BU741059 AW961910 
    AI298340 AA455442 AV729313 NM_144620 BM692890 BX095205 AI381907 AL599450 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for LRRC39    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7
    SP1:              -           -                                       
    SP2:                          -                                       
    SP3:                                                                  


    ECgene alternative splicing isoforms for LRRC39

    (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

    LRRC39 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAAGAAATGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See LRRC39 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LRRC39

    SOURCE GeneReport for Unigene cluster: Hs.44277
        SABiosciences Custom PCR Arrays for LRRC39
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRRC39

    (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 LRRC39 gene from 4/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves LRRC391 leucine rich repeat containing 39 71.73(n)
    68.99(a)
      424469  XM_422312.3  XP_422312.2 
    lizard
    (Anolis carolinensis)
    Reptilia LRRC396
    --
    68(a)
    1 ↔ 1
    4(87748549-87757223)
    zebrafish
    (Danio rerio)
    Actinopterygii lrrc391 leucine rich repeat containing 39 64.14(n)
    63.92(a)
      550456  NM_001017760.1  NP_001017760.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta f-cup6
    flyers-cup
    10(a)
    1 → many
    3R(9520979-9526560)


    ENSEMBL Gene Tree for LRRC39 (if available)
    TreeFam Gene Tree for LRRC39 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LRRC39 gene
    LRRC72  LRRC22  ERBB2IP2  MFHAS12  LRRC182  LRRC302  LRRC12  PIDD2  
    LRRIQ42  SCRIB2  SHOC22  LRRD12  LRRC10B2  LRRC402  LRRC102  
    2 SIMAP similar genes for LRRC39 using alignment to 1 protein entry:     LRC39_HUMAN:
    LRRC2    LRRC10

    LRRC39 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/403 NCBI SNPs in LRRC39 are shown (see all 403    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs127426431,2
    H--100616708(+) aaaaGA/TCTGCC 4 -- int1 trp34Minor allele frequency- T:0.00NS EA 408
    rs1924097511,2
    --100616747(+) CACCTA/GATTCT 4 -- int10--------
    rs1840316661,2
    --100616811(+) CCAGTG/TGCCCT 4 -- int10--------
    rs1501590341,2
    --100616895(+) CTTTAC/TATATT 4 -- int10--------
    rs765121461,2
    F,--100616955(+) CCCCAA/GTCTGT 4 -- int11Minor allele frequency- G:0.02WA 118
    rs1386535021,2
    --100616979(+) CTTCTA/GTGACC 4 -- int10--------
    rs1873041521,2
    --100617001(+) AATCTA/GATCAC 4 -- int10--------
    rs1113340831,2
    C,--100617033(+) TGAATG/ATTAGT 4 -- int12Minor allele frequency- A:0.05NA 122
    rs1920672771,2
    --100617037(+) TGTTAA/GTAAAA 4 -- int10--------
    rs1493336391,2
    --100617106(+) AACTAC/GTTGTT 4 -- int10--------

    HapMap Linkage Disequilibrium report for LRRC39 (100614409 - 100643771 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for LRRC39: --

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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.)
    About This Section

    LRRC39 for disorders           About MalaCards

    LRRC39 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: LRRC39 (1 document)

    Export disorders for LRRC39 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 LRRC39 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with LRRC39)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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, 3 Clark H.F.... Gray A.M. (2003)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    6. Myomasp/LRRC39, a heart- and muscle-specific protein, is a novel component of the sarcomeric M-band and is involved in stretch sensi ng. (PubMed id 20847312)1 Will R.D....Frey N. (2010)
    7. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (2006)
    8. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (2004)
    9. 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)
    10. DNA cloning using in vitro site-specific recombination. (PubMed id 11076863)1 Hartley J.L....Brasch M.A. (2000)

    (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: 127495 HGNC: 28228 AceView: MGC14816 Ensembl:ENSG00000122477 euGenes: HUgn127495
    ECgene: LRRC39 H-InvDB: LRRC39

    (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 LRRC39 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 LRRC39 gene:
    Search GeneIP for patents involving LRRC39

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
    About This Section

     
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     LRRC39 Proteins, Antibodies, CLIAs, and ELISAs
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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