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

LCE3B Gene

protein-coding   GIFtS: 36
GCID: GC01P152586

Late Cornified Envelope 3B

  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
Late Cornified Envelope 3B1 2
LEP142 3 5
Late Envelope Protein 142 3
Late Cornified Envelope Protein 3B2

External Ids:    HGNC: 294621   Entrez Gene: 3531432   Ensembl: ENSG000001872387   OMIM: 6126145   UniProtKB: Q5TA773   

Export aliases for LCE3B gene to outside databases

Previous GC identifers: GC01P149400 GC01P150852 GC01P123959


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

GeneCards Summary for LCE3B Gene: 
LCE3B (late cornified envelope 3B) is a protein-coding gene. Diseases associated with LCE3B include allergic contact dermatitis, and contact dermatitis. An important paralog of this gene is LCE3C.

UniProtKB/Swiss-Prot: LCE3B_HUMAN, Q5TA77
Function: Precursors of the cornified envelope of the stratum corneum




(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_000001.10  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LCE3B gene promoter:
         TBP   AREB6   POU2F1   AML1a   POU2F1a   Zic3   LyF-1   Ik-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for LCE3B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LCE3B


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

Entrez Gene cytogenetic band: 1q21.3   Ensembl cytogenetic band:  1q21.3   HGNC cytogenetic band: 1q21.3

LCE3B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LCE3B gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P152586:  view genomic region     (about GC identifiers)

Start:
152,586,287 bp from pter      End:
152,586,574 bp from pter
Size:
288 bases      Orientation:
plus 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: LCE3B_HUMAN, Q5TA77 (See protein sequence)
Recommended Name: Late cornified envelope protein 3B  
Size: 95 amino acids; 9812 Da
Miscellaneous: Belongs to the LCE cluster present on 1q21

Explore the universe of human proteins at neXtProt for LCE3B: NX_Q5TA77

Explore proteomics data for LCE3B at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5TA77

  • LCE3B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LCE3B Protein Expression
    REFSEQ proteins: NP_848520.1  
    ENSEMBL proteins: 
     ENSP00000335358  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    LCE: Late cornified envelopes

    1 InterPro protein domain:
     IPR026075 SPRR/LCE

    Graphical View of Domain Structure for InterPro Entry Q5TA77

    ProtoNet protein and cluster: Q5TA77

    UniProtKB/Swiss-Prot: LCE3B_HUMAN, Q5TA77
    Similarity: Belongs to the LCE family


    LCE3B 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: LCE3B_HUMAN, Q5TA77
    Function: Precursors of the cornified envelope of the stratum corneum

    Phenotypes:
         1 GenomeRNAi human phenotype for LCE3B:

     Increased HPV18 LCR reporter a 

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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 LCE3B

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031424keratinization IEA--

    LCE3B 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for LCE3B

    Search CenterWatch for drugs/clinical trials and news about LCE3B

    (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 LCE3B gene: 
    NM_178433.1  

    Unigene Cluster for LCE3B:

    Late cornified envelope 3B
    Hs.553715
    Unigene Representative Sequence: NM_178433
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000335633(uc010pds.2)
    miRNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LCE3B

    1 AceView cDNA sequence:

    NM_178433 

    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

    LCE3B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    LCE3B Expression
    About this image


    See LCE3B Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.553715

    UniProtKB/Swiss-Prot: LCE3B_HUMAN, Q5TA77
    Tissue specificity: Skin-specific. Expression was readily detected in adult trunk skin, adult arm skin, fetal
    skin, penal skin, vulva, esophagus and tongue. Not expressed in the cervix, rectum, lung, colon, or placenta

        SABiosciences Custom PCR Arrays for LCE3B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LCE3B

    (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
      --

    ENSEMBL Gene Tree for LCE3B (if available)
    TreeFam Gene Tree for LCE3B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LCE3B gene
    LCE3C2  LCE3A2  LCE3D2  LCE3E2  

    LCE3B 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

    10/49 SNPs in LCE3B are shown (see all 49)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs787804831,2
    C--152584805(+) TTCCAT/CTAAAT 1 -- us2k11Minor allele frequency- C:0.01WA 118
    rs797215081,2
    C,F--152584839(+) ATCACT/CAACCT 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs1443425021,2
    --152584966(+) AGCTAA/TATATG 1 -- us2k10--------
    rs120611931,2
    C--152585016(+) ATCTCA/GACTAT 1 -- us2k12Minor allele frequency- G:0.05WA 120
    rs120765561,2
    C,F--152585172(+) ATCACC/ACAACA 1 -- us2k13Minor allele frequency- A:0.05NA WA 122
    rs561226371,2
    C,F--152585242(+) AGGAAT/AAGGGA 1 -- us2k12Minor allele frequency- A:0.04WA NA 238
    rs1478021441,2
    --152585287(+) AGGACA/GAATCA 1 -- us2k10--------
    rs1401651131,2
    --152585340(+) AGTCCA/TGTTAA 1 -- us2k10--------
    rs786227741,2
    C,F--152585382(+) ATATGC/TATCTT 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1498807631,2
    C--152585498(+) TCATCA/GAGACT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for LCE3B (152586287 - 152586574 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/27 variations for LCE3B (see all 27):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv821155CNV Deletion20802225
    esv998954CNV Deletion20482838
    dgv71e199CNV Deletion23128226
    dgv21n16CNV Deletion17901297
    esv2718195CNV Deletion23290073
    esv2421966CNV Deletion20811451
    dgv2n31CNV Deletion19718026
    nsv498689CNV Loss21111241
    nsv2888CNV Loss18451855
    nsv68CNV Loss15895083


    Human Gene Mutation Database (HGMD): LCE3B
    SABiosciences Cancer Mutation PCR Assays
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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
    OMIM gene information: 612614    OMIM disorders: --

    11 diseases for LCE3B:    About MalaCards
    allergic contact dermatitis    contact dermatitis    psoriatic arthritis    eczema
    atopic dermatitis    dermatitis    systemic lupus erythematosus    psoriasis
    lupus erythematosus    arthritis    rheumatoid arthritis

    1 disease from the University of Copenhagen DISEASES database for LCE3B:
    Psoriasis

    LCE3B for disorders           About GeneDecksing

    Genetic Association Database (GAD): LCE3B
    Human Genome Epidemiology (HuGE) Navigator: LCE3B (9 documents)

    Export disorders for LCE3B 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 LCE3B gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with LCE3B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Deletion of Late Cornified Envelope 3B and 3C genes i s not associated with atopic dermatitis. (PubMed id 20376060)1, 4 Bergboer J.G....Schalkwijk J. (2010)
    2. LCE3C_LCE3B-del genotype and psoriasis: a summative m eta-analysis. (PubMed id 20624365)1, 4 Wiwanitkit V. (2010)
    3. Replication of LCE3C-LCE3B CNV as a risk factor for p soriasis and analysis of interaction with other genetic risk factors. (PubMed id 20016497)1, 4 HA1ffmeier U....Reis A. (2010)
    4. Mutation analysis of the LCE3B/LCE3C genes in Psorias is. (PubMed id 20331852)1, 4 Coto E....Alvarez V. (2010)
    5. Deletion of the late cornified envelope genes, LCE3C and LCE3B, is associated with rheumatoid arthritis. (PubMed id 20213803)1, 4 Docampo E....Estivill X. (2010)
    6. Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. (PubMed id 19169253)1, 4 de Cid R....Estivill X. (2009)
    7. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    8. Late cornified envelope family in differentiating epithelia -- response to calcium and ultraviolet irradiation. (PubMed id 15854049)1, 2 Jackson B.... Byrne C. (2005)
    9. Differentially expressed late constituents of the epidermal cornified envelope. (PubMed id 11698679)1, 3 Marshall D....Byrne C. (2001)
    10. Paediatric-onset psoriasis is associated with ERAP1 an d IL23R loci, LCE3C_LCE3B deletion and HLA-C*06. (PubMed id 22512642)1 Bergboer J.G....Seyger M.M. (2012)

    (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: 353143 HGNC: 29462 AceView: LEP14 Ensembl:ENSG00000187238 euGenes: HUgn353143
    ECgene: LCE3B H-InvDB: LCE3B

    (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 LCE3B 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 LCE3B gene:
    Search GeneIP for patents involving LCE3B

    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
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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