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

LRRC14 Gene

protein-coding   GIFtS: 47
GCID: GC08P145743

leucine rich repeat containing 14

 Explore 1 disease affiliated with
LRRC14 via our new
 Human Malady Compendium 
Biological research products
for LRRC14
    

(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 141 2
LRRC14A1 2
KIAA00141 3
Leucine-Rich Repeat-Containing Protein 142

External Ids:    HGNC: 204191   Entrez Gene: 96842   Ensembl: ENSG000001609597   UniProtKB: Q150483   

Export aliases for LRRC14 gene to outside databases

Previous GC identifers: GC08P145748 GC08P145714 GC08P140856


(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 LRRC14:
This gene encodes a leucine-rich repeat-containing protein. Alternate splicing results in multiple transcript variants.
(provided by RefSeq, Dec 2012)




(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_000008.10  NC_018919.1  NT_037704.5  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LRRC14 gene promoter:
         Sp1   p53   Olf-1   MyoD   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLRRC14 promoter sequence
   Search SABiosciences Chromatin IP Primers for LRRC14

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LRRC14


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

Entrez Gene cytogenetic band: 8q24.3   Ensembl cytogenetic band:  8q24.3   HGNC cytogenetic band: 8q24.3

LRRC14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LRRC14 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P145743:  view genomic region     (about GC identifiers)

Start:
145,743,376 bp from pter      End:
145,750,557 bp from pter
Size:
7,182 bases      Orientation:
plus 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: LRC14_HUMAN, Q15048 (See protein sequence)
Recommended Name: Leucine-rich repeat-containing protein 14  
Size: 493 amino acids; 54513 Da
Sequence caution: Sequence=BAA04946.2; Type=Erroneous initiation;
Secondary accessions: A8K0A8 D3DWM8

Explore the universe of human proteins at neXtProt for LRRC14: NX_Q15048

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q15048

  • LRRC14 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001258965.1  NP_055480.1  

    ENSEMBL proteins: 
     ENSP00000436452   ENSP00000434768   ENSP00000292524   ENSP00000435985   ENSP00000434738  

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

    LRRC14 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR026292 PRAME/Leu_rich_rep-con_p14

    Graphical View of Domain Structure for InterPro Entry Q15048

    ProtoNet protein and cluster: Q15048

    UniProtKB/Swiss-Prot: LRC14_HUMAN, Q15048
    Similarity: Belongs to the PRAME family
    Similarity: Contains 5 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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    Inhib. RNA
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    (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 LRRC14

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for LRRC14 (Q150483 ENSP000002925244) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COPS5Q929053, ENSP000003505124I2D: score=2 STRING: ENSP00000350512
    COPS6Q7L5N13, ENSP000003041024I2D: score=2 STRING: ENSP00000304102
    About this table

    (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 LRRC14
    Search CenterWatch for drugs/clinical trials and news about LRRC14 / LRC14 

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 LRRC14 gene (2 alternative transcripts): 
    NM_001272036.1  NM_014665.3  

    Unigene Cluster for LRRC14:

    Leucine rich repeat containing 14
    Hs.459391  [show with all ESTs]
    Unigene Representative Sequence: NM_014665
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000527730 ENST00000529022 ENST00000292524(uc003zdk.2 uc003zdl.2)
    ENST00000530854 ENST00000525766 ENST00000531310 ENST00000528528 ENST00000530242
    ENST00000529995

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    hsa-miR-649 hsa-miR-532-3p hsa-miR-1207-5p hsa-miR-3190
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): LRRC14 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AK289473.1 BC011377.1 D25216.1 

    9 DOTS entries:

    DT.113890  DT.100820773  DT.100757585  DT.121469486  DT.100820778  DT.100820781  DT.100804386  DT.86846723 
    DT.95086015 

    24/150 AceView cDNA sequences (see all 150):

    CB054846 BM456583 AI216480 AA293361 AI474263 CR625635 N53287 CA440215 
    AW169470 CR612338 BU733276 AI890607 BM693175 BQ962722 BX106345 AW613294 
    AL133903 AW081716 AI095518 AW246675 BM754828 BI769872 BU677483 AA292382 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for LRRC14    About this scheme

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


    ECgene alternative splicing isoforms for LRRC14

    (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

    LRRC14 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCTCTCTTCT

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

    About this image
    See LRRC14 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LRRC14

    SOURCE GeneReport for Unigene cluster: Hs.459391
        SABiosciences Custom PCR Arrays for LRRC14
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRRC14

    (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 chordates.

    Orthologs for LRRC14 gene from 3/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia LRRC146
    --
    49(a)
    1 ↔ 1
    GL343636.1(284468-290490)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX697147.12   -- 73.57(n)    BX697147.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CU695007.16
    --
    25(a)
    1 ↔ 1
    7(41486722-41493869)


    ENSEMBL Gene Tree for LRRC14 (if available)
    TreeFam Gene Tree for LRRC14 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LRRC14 gene
    PRAMEF192  PRAMEF102  PRAMEF32  PRAMEF202  LOC6453592  PRAMEF182  PRAMEF122  PRAMEF212  
    PRAMEF152  PRAMEF222  PRAMEF42  PRAMEF22  PRAMEF132  PRAMEF92  PRAME2  LRRC14B2  
    PRAMEF142  PRAMEF72  PRAMEF82  PRAMEF172  PRAMEF52  PRAMEF112  PRAMEF162  PRAMEF12  
    PRAMEF62  
    1 SIMAP similar gene for LRRC14 using alignment to 4 protein entries:     LRC14_HUMAN (see all proteins):
    LRRC14B

    LRRC14 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for LRRC14
    PGOHUM00000246266 PGOHUM00000241475 PGOHUM00000241916


    (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

    10/106 NCBI SNPs in LRRC14 are shown (see all 106    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1429799281,2
    C,F--145745251(+) TACTGC/TGCGAG 2 R C mis11Minor allele frequency- T:0.00NA 4552
    rs1167918761,2
    C,F,--145745268(+) CACACG/ATGGCC 2 /T syn12Minor allele frequency- A:0.01WA NA 4670
    rs1855555181,2
    C,--145745274(+) TGGCCC/GTTCCC 2 P syn10--------
    rs1145362711,2
    C,F,--145745391(+) ACTGCC/TCGGCT 2 A syn12Minor allele frequency- T:0.01WA NA 4592
    rs1387145911,2
    C,F--145745431(+) AGCCCC/GTCTGC 2 L V mis11Minor allele frequency- G:0.00NA 3312
    rs1898482031,2
    --145745541(+) AGGCGC/TGTTGC 1 -- int10--------
    rs2007917861,2
    --145745585(+) CGCTGC/TCCCTC 1 -- int10--------
    rs1997669481,2
    --145745655(+) ACGGGA/CCTCTT 2 G syn10--------
    rs1469768201,2
    C,F,--145745747(+) GCAGCA/TGGGTG 2 Q L mis12Minor allele frequency- T:0.00NA EU 5857
    rs1381208811,2
    C,F,--145745757(+) GGGGCC/TGCAGA 2 A syn11Minor allele frequency- T:0.00NA 4526

    HapMap Linkage Disequilibrium report for LRRC14 (145743376 - 145750557 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for LRRC14
         4 CNVs: 4613 23292 53129 30306

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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

    LRRC14 for disorders           About GeneDecksing

    1 disease for LRRC14:    About MalaCards
    melanoma


    Export disorders for LRRC14 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 LRRC14 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with LRRC14)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. (PubMed id 7584026)1, 2, 3 Nomura N.... Tabata S. (1994)
    2. 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)
    3. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    4. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    5. An interaction network of the mammalian COP9 signalos ome identifies Dda1 as a core subunit of multiple Cul4-based E3 ligases. (PubMed id 19295130)1 Olma M.H....Pintard L. (2009)
    6. Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (2009)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    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: 9684 HGNC: 20419 AceView: LRRC14 Ensembl:ENSG00000160959 euGenes: HUgn9684
    ECgene: LRRC14 H-InvDB: LRRC14

    (According to HUGE)
    About This Section
    HUGE: KIAA0014

    (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 LRRC14 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LRRC14 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for LRRC14 gene:
    Search GeneIP for patents involving LRRC14

    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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     LRRC14 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
    (GIFTS: 73)
    von Willebrand factor
    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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