Aliases for LCE4A Gene

Aliases for LCE4A Gene

  • Late Cornified Envelope 4A 2 3 5
  • LEP8 2 3 4
  • Small Proline-Rich-Like Epidermal Differentiation Complex Protein 4A 3 4
  • Small Proline Rich-Like (Epidermal Differentiation Complex) 4A 2 3
  • Late Cornified Envelope Protein 4A 3 4
  • Late Envelope Protein 8 3 4
  • SPRL4A 3 4
  • LCE4A 5

External Ids for LCE4A Gene

Previous HGNC Symbols for LCE4A Gene

  • SPRL4A

Previous GeneCards Identifiers for LCE4A Gene

  • GC01P149494
  • GC01P150947
  • GC01P152680
  • GC01P124054

Summaries for LCE4A Gene

GeneCards Summary for LCE4A Gene

LCE4A (Late Cornified Envelope 4A) is a Protein Coding gene. Diseases associated with LCE4A include Candidal Paronychia and Neonatal Candidiasis. Among its related pathways are Keratinization and Developmental Biology.

UniProtKB/Swiss-Prot Summary for LCE4A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LCE4A Gene

Genomics for LCE4A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LCE4A 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
GH01J153012 Enhancer 0.2 FANTOM5 1.3 +304.2 304225 0.2 ENSG00000252920 LOC105371446 ENSG00000234262 SPRR1A LINC01527 LCE4A HSALNG0007263 SPRR3 SPRR1B
GH01J152718 Enhancer 0.2 ENCODE 0.4 +10.3 10280 0.2 C1orf68 NONHSAG002957.2 LCE4A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LCE4A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LCE4A

Top Transcription factor binding sites by QIAGEN in the LCE4A gene promoter:
  • AML1a
  • AP-1
  • AREB6
  • c-Fos
  • c-Jun
  • C/EBPalpha
  • LyF-1
  • Pax-4a
  • RORalpha2

Genomic Locations for LCE4A Gene

Latest Assembly
chr1:152,708,160-152,709,491
(GRCh38/hg38)
Size:
1,332 bases
Orientation:
Plus strand

Previous Assembly
chr1:152,680,636-152,681,910
(GRCh37/hg19 by Entrez Gene)
Size:
1,275 bases
Orientation:
Plus strand

chr1:152,680,636-152,681,967
(GRCh37/hg19 by Ensembl)
Size:
1,332 bases
Orientation:
Plus strand

Genomic View for LCE4A Gene

Genes around LCE4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LCE4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LCE4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LCE4A Gene

Proteins for LCE4A Gene

  • Protein details for LCE4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TA78-LCE4A_HUMAN
    Recommended name:
    Late cornified envelope protein 4A
    Protein Accession:
    Q5TA78
    Secondary Accessions:
    • Q14D97

    Protein attributes for LCE4A Gene

    Size:
    99 amino acids
    Molecular mass:
    9980 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Belongs to the LCE cluster present on 1q21.

neXtProt entry for LCE4A Gene

Post-translational modifications for LCE4A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LCE4A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LCE4A Gene

Domains & Families for LCE4A Gene

Gene Families for LCE4A Gene

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

Protein Domains for LCE4A Gene

InterPro:

Suggested Antigen Peptide Sequences for LCE4A Gene

GenScript: Design optimal peptide antigens:
  • Small proline-rich-like epidermal differentiation complex protein 4A (LCE4A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5TA78

UniProtKB/Swiss-Prot:

LCE4A_HUMAN :
  • Belongs to the LCE family.
Family:
  • Belongs to the LCE family.
genes like me logo Genes that share domains with LCE4A: view

Function for LCE4A Gene

Molecular function for LCE4A Gene

UniProtKB/Swiss-Prot Function:
Precursors of the cornified envelope of the stratum corneum.

Phenotypes From GWAS Catalog for LCE4A Gene

Gene Ontology (GO) - Molecular Function for LCE4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0042802 identical protein binding IPI 32296183
genes like me logo Genes that share ontologies with LCE4A: view
genes like me logo Genes that share phenotypes with LCE4A: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LCE4A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LCE4A Gene

Localization for LCE4A 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 LCE4A gene
Compartment Confidence
plasma membrane 1
nucleus 1
cytosol 0

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for LCE4A Gene

Pathways & Interactions for LCE4A Gene

PathCards logo

SuperPathways for LCE4A Gene

genes like me logo Genes that share pathways with LCE4A: view

Pathways by source for LCE4A Gene

Gene Ontology (GO) - Biological Process for LCE4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008544 epidermis development IEA --
GO:0031424 keratinization IEA --
genes like me logo Genes that share ontologies with LCE4A: view

No data available for SIGNOR curated interactions for LCE4A Gene

Drugs & Compounds for LCE4A Gene

No Compound Related Data Available

Transcripts for LCE4A Gene

mRNA/cDNA for LCE4A Gene

2 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LCE4A

Alternative Splicing Database (ASD) splice patterns (SP) for LCE4A Gene

No ASD Table

Relevant External Links for LCE4A Gene

GeneLoc Exon Structure for
LCE4A

Expression for LCE4A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LCE4A Gene

mRNA differential expression in normal tissues according to GTEx for LCE4A Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x32.4) and Skin - Not Sun Exposed (Suprapubic) (x18.6).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LCE4A

SOURCE GeneReport for Unigene cluster for LCE4A Gene:

Hs.447955

mRNA Expression by UniProt/SwissProt for LCE4A Gene:

Q5TA78-LCE4A_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.
genes like me logo Genes that share expression patterns with LCE4A: view

Primer products for research

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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LCE4A Gene

Orthologs for LCE4A Gene

Evolution for LCE4A Gene

ENSEMBL:
Gene Tree for LCE4A (if available)
TreeFam:
Gene Tree for LCE4A (if available)
Alliance of Genome Resources:
Additional Orthologs for LCE4A

No data available for Orthologs for LCE4A Gene

Paralogs for LCE4A Gene

No data available for Paralogs for LCE4A Gene

Variants for LCE4A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LCE4A Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs10888510 -- p.Gly95Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LCE4A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for LCE4A Gene

Variant ID Type Subtype PubMed ID
esv2758970 CNV gain+loss 17122850
esv33483 CNV gain+loss 17666407
esv34854 CNV gain 17911159
esv3587568 CNV gain 21293372
nsv469873 CNV loss 16826518
nsv509480 CNV insertion 20534489
nsv547891 CNV loss 21841781
nsv547899 CNV gain 21841781
nsv818478 CNV gain 17921354

Variation tolerance for LCE4A Gene

Residual Variation Intolerance Score: 89.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.01; 60.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LCE4A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LCE4A
Leiden Open Variation Database (LOVD)
LCE4A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LCE4A Gene

Disorders for LCE4A Gene

MalaCards: The human disease database

(2) MalaCards diseases for LCE4A Gene - From: COP

Disorder Aliases PubMed IDs
candidal paronychia
  • candidiasis of skin
neonatal candidiasis
  • neonatal candida infection
- elite association - COSMIC cancer census association via MalaCards
Search LCE4A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for LCE4A

genes like me logo Genes that share disorders with LCE4A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LCE4A Gene

Publications for LCE4A Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  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
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. 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
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for LCE4A Gene

Sources for LCE4A Gene