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Aliases for LCE2C Gene

Aliases for LCE2C Gene

  • Late Cornified Envelope 2C 2 3 5
  • Late Envelope Protein 11 3 4
  • LEP11 3 4
  • Late Cornified Envelope Protein 2C 3

External Ids for LCE2C Gene

Previous GeneCards Identifiers for LCE2C Gene

  • GC01P149461
  • GC01P150914
  • GC01P124021

Summaries for LCE2C Gene

GeneCards Summary for LCE2C Gene

LCE2C (Late Cornified Envelope 2C) is a Protein Coding gene. Among its related pathways are Keratinization and Developmental Biology. An important paralog of this gene is LCE2D.

UniProtKB/Swiss-Prot for LCE2C Gene

  • Precursors of the cornified envelope of the stratum.

Additional gene information for LCE2C Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LCE2C Gene

Genomics for LCE2C Gene

GeneHancer (GH) Regulatory Elements for LCE2C Gene

Promoters and enhancers for LCE2C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J152675 Promoter 0.5 EPDnew 650.7 0.0 -35 0.1 LCE2C LCE2D
GH01J152639 Enhancer 0.2 ENCODE 11.7 -34.8 -34821 1.2 LCE2D LCE2C LCE2B LCE3D LCEP4 LCE3A
GH01J152686 Promoter 0.5 EPDnew 0.4 +10.8 10795 0.1 LCE2B C1orf68 LCE2C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LCE2C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LCE2C gene promoter:
  • Bach2
  • AML1a
  • ATF6
  • NRSF form 2
  • NRSF form 1
  • AP-1
  • HOXA5
  • NF-1/L
  • NF-1

Genomic Locations for LCE2C Gene

Genomic Locations for LCE2C Gene
chr1:152,675,295-152,676,574
(GRCh38/hg38)
Size:
1,280 bases
Orientation:
Plus strand
chr1:152,647,771-152,649,050
(GRCh37/hg19)
Size:
1,280 bases
Orientation:
Plus strand

Genomic View for LCE2C Gene

Genes around LCE2C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LCE2C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LCE2C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LCE2C Gene

Proteins for LCE2C Gene

  • Protein details for LCE2C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TA81-LCE2C_HUMAN
    Recommended name:
    Late cornified envelope protein 2C
    Protein Accession:
    Q5TA81

    Protein attributes for LCE2C Gene

    Size:
    110 amino acids
    Molecular mass:
    11224 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Belongs to the LCE cluster present on 1q21.

neXtProt entry for LCE2C Gene

Post-translational modifications for LCE2C Gene

No Post-translational modifications

Other Protein References for LCE2C Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LCE2C Gene

Domains & Families for LCE2C Gene

Gene Families for LCE2C Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for LCE2C Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LCE2C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5TA81

UniProtKB/Swiss-Prot:

LCE2C_HUMAN :
  • Belongs to the LCE family.
Family:
  • Belongs to the LCE family.
genes like me logo Genes that share domains with LCE2C: view

Function for LCE2C Gene

Molecular function for LCE2C Gene

UniProtKB/Swiss-Prot Function:
Precursors of the cornified envelope of the stratum.
UniProtKB/Swiss-Prot Induction:
By calcium and UVB.

Gene Ontology (GO) - Molecular Function for LCE2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IBA --
genes like me logo Genes that share ontologies with LCE2C: view

Phenotypes for LCE2C Gene

genes like me logo Genes that share phenotypes with LCE2C: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LCE2C

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LCE2C Gene

Localization for LCE2C Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LCE2C gene
Compartment Confidence
plasma membrane 3
nucleus 2
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for LCE2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope IBA --
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with LCE2C: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for LCE2C Gene

Pathways & Interactions for LCE2C Gene

genes like me logo Genes that share pathways with LCE2C: view

Pathways by source for LCE2C Gene

Gene Ontology (GO) - Biological Process for LCE2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008544 epidermis development IEA --
GO:0018149 peptide cross-linking IBA --
GO:0030216 keratinocyte differentiation IBA --
GO:0031424 keratinization IEA --
genes like me logo Genes that share ontologies with LCE2C: view

No data available for SIGNOR curated interactions for LCE2C Gene

Drugs & Compounds for LCE2C Gene

(1) Drugs for LCE2C Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
genes like me logo Genes that share compounds with LCE2C: view

Transcripts for LCE2C Gene

mRNA/cDNA for LCE2C Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for LCE2C Gene

Late cornified envelope 2C:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LCE2C

Alternative Splicing Database (ASD) splice patterns (SP) for LCE2C Gene

No ASD Table

Relevant External Links for LCE2C Gene

GeneLoc Exon Structure for
LCE2C
ECgene alternative splicing isoforms for
LCE2C

Expression for LCE2C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LCE2C Gene

mRNA differential expression in normal tissues according to GTEx for LCE2C Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x32.5) and Skin - Not Sun Exposed (Suprapubic) (x20.0).

NURSA nuclear receptor signaling pathways regulating expression of LCE2C Gene:

LCE2C

SOURCE GeneReport for Unigene cluster for LCE2C Gene:

Hs.553713

mRNA Expression by UniProt/SwissProt for LCE2C Gene:

Q5TA81-LCE2C_HUMAN
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.

Evidence on tissue expression from TISSUES for LCE2C Gene

  • Skin(2.1)
genes like me logo Genes that share expression patterns with LCE2C: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for LCE2C Gene

Orthologs for LCE2C Gene

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

Orthologs for LCE2C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 34
  • 95 (a)
OneToMany
Species where no ortholog for LCE2C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for LCE2C Gene

ENSEMBL:
Gene Tree for LCE2C (if available)
TreeFam:
Gene Tree for LCE2C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LCE2C: view image

Paralogs for LCE2C Gene

Paralogs for LCE2C Gene

genes like me logo Genes that share paralogs with LCE2C: view

Variants for LCE2C Gene

Sequence variations from dbSNP and Humsavar for LCE2C Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000094432 -- 152,676,975(+) G/T downstream_transcript_variant
rs1001340810 -- 152,674,258(+) T/A upstream_transcript_variant
rs1002974977 -- 152,674,119(+) C/T upstream_transcript_variant
rs1003048705 -- 152,675,061(+) C/T upstream_transcript_variant
rs1003305183 -- 152,675,072(+) G/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for LCE2C Gene

Variant ID Type Subtype PubMed ID
dgv215e59 CNV duplication 20981092
esv23526 CNV gain 19812545
esv2718217 CNV deletion 23290073
esv2750810 CNV gain 17911159
esv2758970 CNV gain+loss 17122850
esv2764247 CNV gain 21179565
esv33483 CNV gain+loss 17666407
esv3587566 CNV gain 21293372
nsv1005047 CNV loss 25217958
nsv1151301 CNV duplication 26484159
nsv2899 CNV insertion 18451855
nsv469873 CNV loss 16826518
nsv509480 CNV insertion 20534489
nsv547891 CNV loss 21841781
nsv8424 CNV gain 18304495
nsv946392 CNV duplication 23825009

Variation tolerance for LCE2C Gene

Residual Variation Intolerance Score: 48.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.64; 45.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LCE2C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LCE2C

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LCE2C Gene

Disorders for LCE2C Gene

Additional Disease Information for LCE2C

No disorders were found for LCE2C Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for LCE2C Gene

Publications for LCE2C Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  2. Late cornified envelope family in differentiating epithelia--response to calcium and ultraviolet irradiation. (PMID: 15854049) Jackson B … Byrne C (The Journal of investigative dermatology 2005) 3 4 58
  3. Differentially expressed late constituents of the epidermal cornified envelope. (PMID: 11698679) Marshall D … Byrne C (Proceedings of the National Academy of Sciences of the United States of America 2001) 2 3 58
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for LCE2C Gene

Sources for LCE2C Gene

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