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Aliases for LENEP Gene

Aliases for LENEP Gene

  • Lens Epithelial Protein 2 3 5
  • Lens Epithelial Cell Protein LEP503 3 4
  • LEP503 3 4

External Ids for LENEP Gene

Previous GeneCards Identifiers for LENEP Gene

  • GC01M148113
  • GC01P150698
  • GC01P151741
  • GC01P152182
  • GC01P151779
  • GC01P153232
  • GC01P154966
  • GC01P126327

Summaries for LENEP Gene

Entrez Gene Summary for LENEP Gene

  • The ocular lens is a tissue of epithelial origin and devoid of blood vessels and nerves. Cells of the lens epithelium are responsible for the growth and maintenance of the lens through mitosis, protein synthesis, and active transport of ions and metabolites across the lens capsule. Lens epithelial protein is expressed exclusively in lens epithelial cells and may play a role in cell differentiation. [provided by RefSeq, Jul 2008]

GeneCards Summary for LENEP Gene

LENEP (Lens Epithelial Protein) is a Protein Coding gene. Diseases associated with LENEP include Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency.

UniProtKB/Swiss-Prot for LENEP Gene

  • May play a role in lens epithelial cell differentiation.

Additional gene information for LENEP Gene

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

Genomics for LENEP Gene

GeneHancer (GH) Regulatory Elements for LENEP Gene

Promoters and enhancers for LENEP 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
GH01J154992 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 550.7 -0.3 -323 0.7 L3MBTL2 IKZF1 ZIC2 ZNF600 SP7 ZBTB8A POLR2A ZNF316 SCRT2 SOX6 LENEP FLAD1
GH01J155062 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.7 +70.4 70395 3.1 DACH1 RAD21 SP1 ZFX PRDM1 ZSCAN21 POLR2A ZNF362 ELF1 MTA1 ENSG00000251246 EFNA4 DCST1-AS1 DCST2 PYGO2 KHDC4 ENSG00000271267 GON4L UBAP2L MSTO1
GH01J155015 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 11.9 +23.7 23728 3.2 ZBTB33 SPI1 ZFX MLLT1 GTF2F1 L3MBTL2 ZNF24 SMARCA4 ZSCAN21 MAFK DCST1 KHDC4 GON4L ENSG00000271267 CLK2 UBAP2L MSTO1 MSTO2P LOC101928120 PYGO2
GH01J155021 Enhancer 0.3 dbSUPER 11 +28.1 28077 0.6 ZBTB20 ZBTB7B ADAM15 DCST1-AS1 LENEP FLAD1 EFNA4 ENSG00000251246 EFNA3 PYGO2 CHRNB2
GH01J154995 Enhancer 1.2 Ensembl ENCODE dbSUPER 0.7 +2.3 2315 0.2 L3MBTL2 TEAD4 SMARCA4 ZNF362 IKZF1 ZNF384 ZIC2 CTCF PRDM10 ZNF316 UBAP2L PYGO2 ADAM15 DCST1-AS1 GON4L DAP3 YY1AP1 ENSG00000251246 EFNA4 EFNA3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LENEP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LENEP gene promoter:
  • AML1a
  • ATF-2
  • c-Jun
  • CREB
  • deltaCREB

Genomic Locations for LENEP Gene

Genomic Locations for LENEP Gene
chr1:154,993,586-154,994,315
(GRCh38/hg38)
Size:
730 bases
Orientation:
Plus strand
chr1:154,966,062-154,966,791
(GRCh37/hg19)
Size:
730 bases
Orientation:
Plus strand

Genomic View for LENEP Gene

Genes around LENEP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for LENEP Gene

Proteins for LENEP Gene

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

    Protein Symbol:
    Q9Y5L5-LENEP_HUMAN
    Recommended name:
    Lens epithelial cell protein LEP503
    Protein Accession:
    Q9Y5L5
    Secondary Accessions:
    • B5BUM1
    • Q5T1A4

    Protein attributes for LENEP Gene

    Size:
    61 amino acids
    Molecular mass:
    6908 Da
    Quaternary structure:
    No Data Available

neXtProt entry for LENEP Gene

Post-translational modifications for LENEP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LENEP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LENEP Gene

Domains & Families for LENEP Gene

Gene Families for LENEP Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for LENEP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LENEP Gene

GenScript: Design optimal peptide antigens:
  • Lens epithelial cell protein LEP503 (LENEP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with LENEP: view

No data available for UniProtKB/Swiss-Prot for LENEP Gene

Function for LENEP Gene

Molecular function for LENEP Gene

UniProtKB/Swiss-Prot Function:
May play a role in lens epithelial cell differentiation.

Phenotypes From GWAS Catalog for LENEP Gene

Gene Ontology (GO) - Molecular Function for LENEP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 7641850
genes like me logo Genes that share ontologies with LENEP: view
genes like me logo Genes that share phenotypes with LENEP: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Applied Biological Materials (abm): Clones for LENEP - Now 50% OFF >
  • * LENEP as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * LENEP tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

Localization for LENEP 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 LENEP gene
Compartment Confidence
extracellular 3
cytosol 2
mitochondrion 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 LENEP Gene

Pathways & Interactions for LENEP Gene

SuperPathways for LENEP Gene

No Data Available

Interacting Proteins for LENEP Gene

Gene Ontology (GO) - Biological Process for LENEP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA,TAS --
genes like me logo Genes that share ontologies with LENEP: view

No data available for Pathways by source and SIGNOR curated interactions for LENEP Gene

Drugs & Compounds for LENEP Gene

No Compound Related Data Available

Transcripts for LENEP Gene

mRNA/cDNA for LENEP Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for LENEP Gene

Lens epithelial protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Applied Biological Materials (abm): Clones for LENEP - Now 50% OFF >
  • * LENEP as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * LENEP tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

No ASD Table

Relevant External Links for LENEP Gene

GeneLoc Exon Structure for
LENEP
ECgene alternative splicing isoforms for
LENEP

Expression for LENEP Gene

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

NURSA nuclear receptor signaling pathways regulating expression of LENEP Gene:

LENEP

SOURCE GeneReport for Unigene cluster for LENEP Gene:

Hs.272399

mRNA Expression by UniProt/SwissProt for LENEP Gene:

Q9Y5L5-LENEP_HUMAN
Tissue specificity: Restricted to lens epithelial cells.
genes like me logo Genes that share expression patterns with LENEP: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , 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 LENEP Gene

Orthologs for LENEP Gene

This gene was present in the common ancestor of mammals.

Orthologs for LENEP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LENEP 35 34
  • 100 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LENEP 35
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LENEP 35 34
  • 84.7 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Lenep 17 35 34
  • 83.06 (n)
rat
(Rattus norvegicus)
Mammalia Lenep 34
  • 83.06 (n)
Species where no ortholog for LENEP 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 LENEP Gene

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

Paralogs for LENEP Gene

No data available for Paralogs for LENEP Gene

Variants for LENEP Gene

Sequence variations from dbSNP and Humsavar for LENEP Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs771466122 pathogenic, Glutaric aciduria, type 2, Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, not provided 154,992,746(+) C/T upstream_transcript_variant
rs1227440416 likely-benign, not specified 154,992,703(+) G/A upstream_transcript_variant
rs148439225 likely-benign, not specified 154,992,724(+) C/T upstream_transcript_variant
rs369848433 likely-benign, not specified 154,992,694(+) T/C/G upstream_transcript_variant
rs1000265522 -- 154,992,210(+) C/T upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv509502 CNV insertion 20534489

Variation tolerance for LENEP Gene

Residual Variation Intolerance Score: 65% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.86; 17.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LENEP Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for LENEP Gene

MalaCards: The human disease database

(1) MalaCards diseases for LENEP Gene - From: GeneCards

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

Additional Disease Information for LENEP

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

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

Publications for LENEP Gene

  1. Functional analysis of the promoter and chromosomal localization for human LEP503, a novel lens epithelium gene. (PMID: 11376938) Wen Y … Sachs G (Gene 2001) 2 3 4 58
  2. A novel lens epithelium gene, LEP503, is highly conserved in different vertebrate species and is developmentally regulated in postnatal rat lens. (PMID: 10655141) Wen Y … Athmann C (Experimental eye research 2000) 2 3 4 58
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  4. 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 58
  5. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. (PMID: 23535732) Eeles RA … Easton DF (Nature genetics 2013) 3 58

Products for LENEP Gene

Sources for LENEP Gene

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