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LCE3B Gene

protein-coding   GIFtS: 34
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_004487.20  
Regulatory elements:
   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
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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


See LCE3B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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)
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HGNC Gene Families:
LCE: Late cornified envelopes

2 InterPro protein domains:
 IPR028205 LCE
 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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytoskeleton2
extracellular2
nucleus2
cytosol1

(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for LCE3B
Interactions:

    Search GeneGlobe Interaction Network for LCE3B

Gene Ontology (GO): 1 biological process term:    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
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Browse Tocris compounds for 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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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)
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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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --

LCE3B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

LCE3B Protein Expression

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

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In Situ
Assay Products:
 

 
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(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)
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This gene was present in the common ancestor of human and chimp.

Orthologs for LCE3B gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia LCE3B6
late cornified envelope 3B
96(a)
1 ↔ 1
1(130820944-130821231)


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)
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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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for LCE3B (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) Selected 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
Site Specific Mutation Identification with 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.)
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OMIM gene information: 612614    OMIM disorders: --

10 diseases for LCE3B:    
About MalaCards
allergic contact dermatitis    contact dermatitis    psoriatic arthritis    dermatitis
atopic dermatitis    systemic lupus erythematosus    psoriasis    arthritis
lupus erythematosus    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)
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PubMed articles for LCE3B gene, integrated from 10 sources (see all 23):
(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 is not associated with atopic dermatitis. (PubMed id 20376060)1, 4 Bergboer J.G....Schalkwijk J. (J. Invest. Dermatol. 2010)
  2. LCE3C_LCE3B-del genotype and psoriasis: a summative meta-analysis. (PubMed id 20624365)1, 4 Wiwanitkit V. (Acta Dermatovenerol Croat 2010)
  3. Replication of LCE3C-LCE3B CNV as a risk factor for psoriasis and analysis of interaction with other genetic risk factors. (PubMed id 20016497)1, 4 HA1ffmeier U....Reis A. (J. Invest. Dermatol. 2010)
  4. Mutation analysis of the LCE3B/LCE3C genes in Psoriasis. (PubMed id 20331852)1, 4 Coto E....Alvarez V. (BMC Med. Genet. 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. (Arthritis Rheum. 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. (Nat. Genet. 2009)
  7. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
  8. Late cornified envelope family in differentiating epithelia -- response to calcium and ultraviolet irradiation. (PubMed id 15854049)1, 2 Jackson B.... Byrne C. (J. Invest. Dermatol. 2005)
  9. Differentially expressed late constituents of the epidermal cornified envelope. (PubMed id 11698679)1, 3 Marshall D....Byrne C. (Proc. Natl. Acad. Sci. U.S.A. 2001)
  10. Association between the LCE3C_LCE3B deletion polymorphism and susceptibility to psoriasis: a meta-analysis of published studies. (PubMed id 23631431)1 Song G.G....Lee Y.H. (Genet Test Mol Biomarkers 2013)

(in PubMed, OMIM, and NCBI Bookshelf)
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 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)
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Entrez Gene: 353143 HGNC: 29462 AceView: LEP14 Ensembl:ENSG00000187238 euGenes: HUgn353143
ECgene: LCE3B H-InvDB: LCE3B

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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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.)
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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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 ELISAs for LCE3B
 CLIAs for LCE3B



 Browse ESI BIO Cell Lines and PureStem Progenitors for LCE3B
 Gene Synthesis
 Protein Engineering
 Variant Library Synthesis
 Codon Optimization
 Protein Production and Purification
 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LCE3B
 Browse SwitchGear 3'UTR luciferase reporter plasmids for LCE3B
 Browse SwitchGear Promoter luciferase reporter plasmids for LCE3B
 Search ThermoFisher Antibodies for LCE3B
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LCE3B
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LCE3B
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for LCE3B
 Search LSBio for Antibodies for LCE3B
Customized transgenic rodents for:
 Humanization
 Biomarker expression
 Off-target effect monitoring
 Translational medicine
 Tissue-specific gene expresssion
 Time-controlled gene expresssion
 Browse compounds at ApexBio
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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