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LCE2A Gene

protein-coding   GIFtS: 34
GCID: GC01P152670

Late Cornified Envelope 2A

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(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 2A1 2
LEP92 3 5
Late Envelope Protein 92 3
Late Cornified Envelope Protein 2A2

External Ids:    HGNC: 294691   Entrez Gene: 3531392   Ensembl: ENSG000001871737   OMIM: 6126095   UniProtKB: Q5TA793   

Export aliases for LCE2A gene to outside databases

Previous GC identifers: GC01P149484 GC01P150937 GC01P124044


(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 LCE2A Gene:
LCE2A (late cornified envelope 2A) is a protein-coding gene. An important paralog of this gene is LCE2B.

UniProtKB/Swiss-Prot: LCE2A_HUMAN, Q5TA79
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 at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the LCE2A gene promoter:
         AML1a   HOXA5   Pax-4a   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLCE2A promoter sequence
   Search Chromatin IP Primers for LCE2A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LCE2A


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

LCE2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LCE2A gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P152670:  view genomic region     (about GC identifiers)

Start:
152,670,840 bp from pter      End:
152,671,918 bp from pter
Size:
1,079 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: LCE2A_HUMAN, Q5TA79 (See protein sequence)
Recommended Name: Late cornified envelope protein 2A  
Size: 106 amino acids; 10846 Da
Miscellaneous: Belongs to the LCE cluster present on 1q21
Secondary accessions: A4QMZ9

Explore the universe of human proteins at neXtProt for LCE2A: NX_Q5TA79

Explore proteomics data for LCE2A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See LCE2A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_848515.1  
    ENSEMBL proteins: 
     ENSP00000357768  

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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 Q5TA79

    ProtoNet protein and cluster: Q5TA79

    UniProtKB/Swiss-Prot: LCE2A_HUMAN, Q5TA79
    Similarity: Belongs to the LCE family


    Find genes that share domains with LCE2A           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LCE2A_HUMAN, Q5TA79
    Function: Precursors of the cornified envelope of the stratum corneum
    Induction: By calcium and UVB

    Animal Models:

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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
    extracellular2
    nucleus2
    cytosol1
    mitochondrion1
    peroxisome1

    (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 LCE2A
    Interactions:

        Search GeneGlobe Interaction Network for LCE2A

    Gene Ontology (GO): 1 biological process term:    About this table

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

    Find genes that share ontologies with LCE2A           About GenesLikeMe



    (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
      Browse compounds at ApexBio 

    Browse Tocris compounds for LCE2A

    1 HMDB Compound for LCE2A    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for LCE2A gene: 
    NM_178428.3  

    Unigene Cluster for LCE2A:

    Late cornified envelope 2A
    Hs.334054  [show with all ESTs]
    Unigene Representative Sequence: NM_178428
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000368779(uc001faj.3)
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    Additional mRNA sequence: 

    BC119707.2 BC127647.1 

    1 DOTS entry:

    DT.100745637 

    2 AceView cDNA sequences:

    NM_178428 BG217525 

    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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    LCE2A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    LCE2A Expression
    About this image

    LCE2A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LCE2A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.334054

    UniProtKB/Swiss-Prot: LCE2A_HUMAN, Q5TA79
    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
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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 LCE2A gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chimpanzee
    (Pan troglodytes)
    Mammalia LCE2A6
    late cornified envelope 2A
    99(a)
    1 ↔ 1
    1(130922460-130923514)


    ENSEMBL Gene Tree for LCE2A (if available)
    TreeFam Gene Tree for LCE2A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LCE2A gene
    LCE2B2  LCE2C2  LCE2D2  

    Find genes that share paralogs with LCE2A           About GenesLikeMe



    (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 LCE2A (see all 103)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1465063761,2
    --152668854(+) TCCCCA/GGGAAA 1 -- us2k10--------
    rs758603461,2
    C,F--152668960(+) CAAAGG/TCTGTA 1 -- us2k13Minor allele frequency- T:0.33WA CSA 122
    rs38986021,2
    C,F,A--152668965(+) GCTGTA/GAGCCT 1 -- us2k111Minor allele frequency- G:0.23NA WA EA 494
    rs1923710441,2
    --152668985(+) CAGTGA/GCTGAC 1 -- us2k10--------
    rs1849190631,2
    --152669052(+) GTGAAC/TGAGGC 1 -- us2k10--------
    rs1890533701,2
    C--152669057(+) CGAGGC/GACATA 1 -- us2k10--------
    rs1818771121,2
    --152669116(+) TCCCTC/GGACTT 1 -- us2k10--------
    rs1848204151,2
    --152669162(+) ACATAC/TACACA 1 -- us2k10--------
    rs1410315261,2
    --152669255(+) GACATC/TCCCTC 1 -- us2k10--------
    rs74134011,2
    C,H--152669367(+) TTGTGA/GATTCC 1 -- us2k17Minor allele frequency- G:0.00NS EA NA 602

    HapMap Linkage Disequilibrium report for LCE2A (152670840 - 152671918 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for LCE2A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509480CNV Insertion20534489
    esv34854CNV Gain17911159
    esv33483CNV Gain+Loss17666407
    nsv469873CNV Complex16826518
    dgv131e1CNV Complex17122850
    dgv130e1CNV Complex17122850

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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.)
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    OMIM gene information: 612609    OMIM disorders: --


    Find genes that share disorders with LCE2A           About GenesLikeMe


    Export disorders for LCE2A 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 LCE2A gene integrated from 10 sources:
    (articles sorted by number of sources associating them with LCE2A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    2. 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)
    3. 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)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    6. Creation of genome-wide protein expression libraries using random activation of gene expression. (PubMed id 11329013)1 Harrington J.J.... Ducar M. (Nat. Biotechnol. 2001)

    (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: 353139 HGNC: 29469 AceView: LEP9 Ensembl:ENSG00000187173 euGenes: HUgn353139
    ECgene: LCE2A H-InvDB: LCE2A

    (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 LCE2A 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 LCE2A gene:
    Search GeneIP for patents involving LCE2A

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LCE2A
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LCE2A
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