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Aliases for LOR Gene

Aliases for LOR Gene

  • Loricrin 2 3
  • LRN 4

External Ids for LOR Gene

Previous GeneCards Identifiers for LOR Gene

  • GC01P151049
  • GC01P149015
  • GC01P150008
  • GC01P150449
  • GC01P150448
  • GC01P150045
  • GC01P151498
  • GC01P153233
  • GC01P124595

Summaries for LOR Gene

Entrez Gene Summary for LOR Gene

  • This gene encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells. Mutations in this gene are associated with Vohwinkel's syndrome and progressive symmetric erythrokeratoderma, both inherited skin diseases. [provided by RefSeq, Jul 2008]

GeneCards Summary for LOR Gene

LOR (Loricrin) is a Protein Coding gene. Diseases associated with LOR include vohwinkel syndrome with ichthyosis and keratoderma hereditarium mutilans with ichthyosis. GO annotations related to this gene include structural molecule activity and protein binding, bridging.

UniProtKB/Swiss-Prot for LOR Gene

  • Major keratinocyte cell envelope protein

Gene Wiki entry for LOR Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LOR Gene

Genomics for LOR Gene

Regulatory Elements for LOR Gene

Genomic Location for LOR Gene

153,259,635 bp from pter
153,262,125 bp from pter
2,491 bases
Plus strand

Genomic View for LOR Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LOR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOR Gene

Proteins for LOR Gene

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

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q5T869
    • Q5XKF8

    Protein attributes for LOR Gene

    312 amino acids
    Molecular mass:
    25761 Da
    Quaternary structure:
    No Data Available

neXtProt entry for LOR Gene

Proteomics data for LOR Gene at MOPED

Post-translational modifications for LOR Gene

  • Contains inter- or intramolecular disulfide-bonds.
  • Substrate of transglutaminases. Some glutamines and lysines are cross-linked to other loricrin molecules and to SPRRs proteins
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LOR Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LOR Gene

Domains & Families for LOR Gene

Protein Domains for LOR Gene


Suggested Antigen Peptide Sequences for LOR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families and UniProtKB/Swiss-Prot for LOR Gene

Function for LOR Gene

Molecular function for LOR Gene

GENATLAS Biochemistry:
loricrin,26kDa,major protein component of the cornified cell enveloppe in stratum corneum,SPRR family
UniProtKB/Swiss-Prot Function:
Major keratinocyte cell envelope protein

Gene Ontology (GO) - Molecular Function for LOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IDA 10908733
GO:0005200 structural constituent of cytoskeleton TAS 2007607
GO:0005515 protein binding IPI 7592852
GO:0030674 protein binding, bridging IDA 10908733
genes like me logo Genes that share ontologies with LOR: view
genes like me logo Genes that share phenotypes with LOR: view

Animal Models for LOR Gene

MGI Knock Outs for LOR:

miRNA for LOR Gene

miRTarBase miRNAs that target LOR

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LOR Gene

Localization for LOR Gene

Subcellular locations from UniProtKB/Swiss-Prot for LOR Gene

Cytoplasm. Nucleus, nucleoplasm.

Subcellular locations from

Jensen Localization Image for LOR Gene COMPARTMENTS Subcellular localization image for LOR gene
Compartment Confidence
nucleus 5
plasma membrane 5
cytoskeleton 2
extracellular 1

Gene Ontology (GO) - Cellular Components for LOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope IDA 10908733
GO:0005654 nucleoplasm IEA --
GO:0005737 cytoplasm IDA 11698679
genes like me logo Genes that share ontologies with LOR: view

Pathways & Interactions for LOR Gene

SuperPathways for LOR Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for LOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0018149 peptide cross-linking IDA 10908733
GO:0030216 keratinocyte differentiation IDA 10908733
GO:0031424 keratinization IEA --
genes like me logo Genes that share ontologies with LOR: view

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

Drugs & Compounds for LOR Gene

(6) Drugs for LOR Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin A Approved Nutra 386
cholesterol Experimental Pharma Agonist 0
Calcium Nutra 0
histidine Nutra 31
proline Nutra 20

(6) Additional Compounds for LOR Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
retinoic acid
genes like me logo Genes that share compounds with LOR: view

Transcripts for LOR Gene

mRNA/cDNA for LOR Gene

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

Unigene Clusters for LOR Gene

Representative Sequences:

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

No ASD Table

Relevant External Links for LOR Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for LOR Gene

mRNA expression in normal human tissues for LOR Gene

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

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x29.7) and Skin - Not Sun Exposed (Suprapubic) (x22.4).

Protein differential expression in normal tissues from HIPED for LOR Gene

This gene is overexpressed in Skin (51.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for LOR Gene

SOURCE GeneReport for Unigene cluster for LOR Gene Hs.251680

genes like me logo Genes that share expression patterns with LOR: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for LOR Gene

Orthologs for LOR Gene

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

Orthologs for LOR Gene

Organism Taxonomy Gene Similarity Type Details
(Mus musculus)
Mammalia Lor 16
Species with no ortholog for LOR:
  • 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • 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 LOR Gene

Gene Tree for LOR (if available)
Gene Tree for LOR (if available)

Paralogs for LOR Gene

No data available for Paralogs for LOR Gene

Variants for LOR Gene

Sequence variations from dbSNP and Humsavar for LOR Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs728863 -- 153,259,138(+) GTGCT(A/G)GGGAC upstream-variant-2KB
rs732700 -- 153,259,362(-) GAATA(C/G)GTCCC upstream-variant-2KB
rs762576 -- 153,259,680(+) TCAGT(C/G)GTCCT upstream-variant-2KB, utr-variant-5-prime
rs943967 -- 153,259,400(+) TATGC(A/G)TCCTG upstream-variant-2KB
rs1143389 -- 153,261,102(+) GGCTG(C/T)GGCTA reference, synonymous-codon

Variation tolerance for LOR Gene

Gene Damage Index Score: 8.42; 85.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LOR Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for LOR Gene

Disorders for LOR Gene

MalaCards: The human disease database

(17) MalaCards diseases for LOR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
vohwinkel syndrome with ichthyosis
  • loricrin keratoderma
keratoderma hereditarium mutilans with ichthyosis
  • camisa disease
vohwinkel syndrome
  • deafness, congenital, with keratopachydermia and constrictions of fingers and toes
molluscum contagiosum
ichthyosis vulgaris
  • dominant congenital ichthyosiform erythroderma
- elite association
Search LOR in MalaCards View complete list of genes associated with diseases


  • Vohwinkel syndrome with ichthyosis (VSI) [MIM:604117]: A variant form of Vohwinkel syndrome without hearing loss and associated with ichthyosiform dermatosis. Clinical features include palmoplantar keratoderma, pseudoainhum and ichthyosis. Compact hyperkeratosis with round retained nuclei and hypergranulosis is observed on skin biopsies. {ECO:0000269 PubMed:12072018, ECO:0000269 PubMed:12615358, ECO:0000269 PubMed:9326323}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LOR

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with LOR: view

No data available for Genatlas for LOR Gene

Publications for LOR Gene

  1. The human loricrin gene. (PMID: 1355480) Yoneda K. … Steinert P.M. (J. Biol. Chem. 1992) 2 23 67
  2. Characterization of human loricrin. Structure and function of a new class of epidermal cell envelope proteins. (PMID: 2007607) Hohl D. … Steinert P.M. (J. Biol. Chem. 1991) 2 23 67
  3. Transglutaminases, involucrin, and loricrin as markers of epidermal differentiation in skin substitutes derived from human sweat gland cells. (PMID: 19856181) Tharakan S. … Meuli M. (Pediatr. Surg. Int. 2010) 23 67
  4. Activation of vascular endothelial growth factor receptor 2 in a cellular model of loricrin keratoderma. (PMID: 20236940) Yoneda K. … Kubota Y. (J. Biol. Chem. 2010) 23 67
  5. Thyroid-stimulating hormone, a novel, locally produced modulator of human epidermal functions, is regulated by thyrotropin-releasing hormone and thyroid hormones. (PMID: 20176727) BodA^ E. … Paus R. (Endocrinology 2010) 23 67

Products for LOR Gene

Sources for LOR Gene

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