Aliases for LCE1B Gene

Aliases for LCE1B Gene

  • Late Cornified Envelope 1B 2 3 5
  • LEP2 2 3 4
  • Small Proline-Rich-Like Epidermal Differentiation Complex Protein 2A 3 4
  • Small Proline Rich-Like (Epidermal Differentiation Complex) 2A 2 3
  • Late Cornified Envelope Protein 1B 3 4
  • Late Envelope Protein 2 3 4
  • SPRL2A 3 4
  • LCE1B 5

External Ids for LCE1B Gene

Previous HGNC Symbols for LCE1B Gene

  • SPRL2A

Previous GeneCards Identifiers for LCE1B Gene

  • GC01P149597
  • GC01P151051
  • GC01P152784
  • GC01P124147
  • GC01P152738

Summaries for LCE1B Gene

GeneCards Summary for LCE1B Gene

LCE1B (Late Cornified Envelope 1B) is a Protein Coding gene. Diseases associated with LCE1B include Macular Degeneration, Age-Related, 13 and Palmoplantar Keratoderma, Nonepidermolytic, Focal 1. Among its related pathways are Developmental Biology and Keratinization. An important paralog of this gene is LCE1C.

UniProtKB/Swiss-Prot Summary for LCE1B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LCE1B Gene

Genomics for LCE1B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LCE1B 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
GH01J152955 Enhancer 0.2 FANTOM5 1.6 +143.3 143291 0 C1orf68 LCE1B HSALNG0007256 SPRR5 LINC01527 SPRR4
GH01J152820 Enhancer 0.2 Ensembl 0.4 +8.9 8930 0.6 LCE6A LCE1F LCE1A LCE1B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LCE1B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LCE1B

Top Transcription factor binding sites by QIAGEN in the LCE1B gene promoter:
  • AML1a
  • HEN1
  • p53
  • POU3F1
  • RFX1
  • SEF-1 (1)
  • TBP
  • ZID

Genomic Locations for LCE1B Gene

Latest Assembly
chr1:152,811,971-152,813,108
(GRCh38/hg38)
Size:
1,138 bases
Orientation:
Plus strand

Previous Assembly
chr1:152,784,447-152,785,584
(GRCh37/hg19 by Entrez Gene)
Size:
1,138 bases
Orientation:
Plus strand

chr1:152,784,447-152,785,585
(GRCh37/hg19 by Ensembl)
Size:
1,139 bases
Orientation:
Plus strand

Genomic View for LCE1B Gene

Genes around LCE1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LCE1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LCE1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LCE1B Gene

Proteins for LCE1B Gene

  • Protein details for LCE1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T7P3-LCE1B_HUMAN
    Recommended name:
    Late cornified envelope protein 1B
    Protein Accession:
    Q5T7P3
    Secondary Accessions:
    • A4IF40

    Protein attributes for LCE1B Gene

    Size:
    118 amino acids
    Molecular mass:
    11626 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Belongs to the LCE cluster present on 1q21.

neXtProt entry for LCE1B Gene

Post-translational modifications for LCE1B Gene

No Post-translational modifications

Other Protein References for LCE1B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LCE1B Gene

Domains & Families for LCE1B Gene

Gene Families for LCE1B Gene

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

Protein Domains for LCE1B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LCE1B Gene

GenScript: Design optimal peptide antigens:
  • Small proline-rich-like epidermal differentiation complex protein 2A (LCE1B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5T7P3

UniProtKB/Swiss-Prot:

LCE1B_HUMAN :
  • Belongs to the LCE family.
Family:
  • Belongs to the LCE family.
genes like me logo Genes that share domains with LCE1B: view

Function for LCE1B Gene

Molecular function for LCE1B Gene

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

Phenotypes From GWAS Catalog for LCE1B Gene

Gene Ontology (GO) - Molecular Function for LCE1B 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 LCE1B: view
genes like me logo Genes that share phenotypes with LCE1B: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LCE1B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LCE1B Gene

Localization for LCE1B 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 LCE1B gene
Compartment Confidence
plasma membrane 1
extracellular 1
cytoskeleton 1
nucleus 1

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 LCE1B Gene

Pathways & Interactions for LCE1B Gene

PathCards logo

SuperPathways for LCE1B Gene

genes like me logo Genes that share pathways with LCE1B: view

Pathways by source for LCE1B Gene

Gene Ontology (GO) - Biological Process for LCE1B 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 LCE1B: view

No data available for SIGNOR curated interactions for LCE1B Gene

Drugs & Compounds for LCE1B Gene

No Compound Related Data Available

Transcripts for LCE1B Gene

mRNA/cDNA for LCE1B Gene

1 REFSEQ mRNAs :
4 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 LCE1B

Alternative Splicing Database (ASD) splice patterns (SP) for LCE1B Gene

No ASD Table

Relevant External Links for LCE1B Gene

GeneLoc Exon Structure for
LCE1B

Expression for LCE1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LCE1B Gene

mRNA differential expression in normal tissues according to GTEx for LCE1B Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x32.4) and Skin - Not Sun Exposed (Suprapubic) (x20.1).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LCE1B

SOURCE GeneReport for Unigene cluster for LCE1B Gene:

Hs.375103

mRNA Expression by UniProt/SwissProt for LCE1B Gene:

Q5T7P3-LCE1B_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 LCE1B: 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 LCE1B Gene

Orthologs for LCE1B Gene

Evolution for LCE1B Gene

ENSEMBL:
Gene Tree for LCE1B (if available)
TreeFam:
Gene Tree for LCE1B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LCE1B: view image

No data available for Orthologs for LCE1B Gene

Paralogs for LCE1B Gene

Paralogs for LCE1B Gene

genes like me logo Genes that share paralogs with LCE1B: view

Variants for LCE1B Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LCE1B 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 LCE1B Gene

Variant ID Type Subtype PubMed ID
dgv432n100 CNV gain 25217958
dgv439n100 CNV gain 25217958
esv2758970 CNV gain+loss 17122850
nsv508615 CNV deletion 20534489
nsv547899 CNV gain 21841781

Variation tolerance for LCE1B Gene

Residual Variation Intolerance Score: 63.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.00; 49.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LCE1B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LCE1B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LCE1B Gene

Disorders for LCE1B Gene

MalaCards: The human disease database

(4) MalaCards diseases for LCE1B Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search LCE1B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for LCE1B

genes like me logo Genes that share disorders with LCE1B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LCE1B Gene

Publications for LCE1B 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. 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
  4. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. (PMID: 32814053) Haenig C … Wanker EE (Cell reports 2020) 3
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for LCE1B Gene

Sources for LCE1B Gene