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Aliases for LOR Gene

Aliases for LOR Gene

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, Variant Form and Vohwinkel Syndrome. Among its related pathways are Keratinization and Developmental Biology. Gene Ontology (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

Additional gene information for LOR Gene

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

Genomics for LOR Gene

GeneHancer (GH) Regulatory Elements for LOR Gene

Promoters and enhancers for LOR 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
GH01I153260 Enhancer 0.8 Ensembl ENCODE 550.8 +1.8 1781 1.2 MXI1 SUZ12 EBF1 ZNF398 DPF2 ZNF560 ZFHX2 POLR2A IKZF1 ZNF341 LOR PRR9 PIR47226
GH01I153259 Promoter 0.5 EPDnew 550.8 +0.0 33 0.1 LOR PIR47226
GH01I153231 Enhancer 0.7 Ensembl ENCODE 11.5 -26.8 -26846 3.2 ESRRA NFIB NR2F1 MNT HNF4A FOS PRR9 LOR LELP1 SPRR2G RPLP0P4 GC01P153244
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LOR on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LOR gene promoter:

Genomic Locations for LOR Gene

Genomic Locations for LOR Gene
chr1:153,259,635-153,262,125
(GRCh38/hg38)
Size:
2,491 bases
Orientation:
Plus strand
chr1:153,232,176-153,234,600
(GRCh37/hg19)

Genomic View for LOR Gene

Genes around LOR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LOR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P23490-LORI_HUMAN
    Recommended name:
    Loricrin
    Protein Accession:
    P23490
    Secondary Accessions:
    • Q5T869
    • Q5XKF8

    Protein attributes for LOR Gene

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

neXtProt entry for LOR Gene

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.

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

Gene Families for LOR Gene

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

Protein Domains for LOR Gene

InterPro:
ProtoNet:

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 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:0030280 structural constituent of epidermis IDA,IEA 7543090
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

Human Phenotype Ontology for LOR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , miRNA , 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

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 LOR gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
extracellular 2
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for LOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope TAS --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IEA --
GO:0005737 cytoplasm IDA 11698679
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with LOR: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LOR Gene

Pathways & Interactions for LOR Gene

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

Pathways by source for LOR Gene

Gene Ontology (GO) - Biological Process for LOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IEA --
GO:0018149 peptide cross-linking IDA 7543090
GO:0030216 keratinocyte differentiation IDA 10908733
GO:0031424 keratinization IEA --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with LOR: view

No data available for 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

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

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

Transcripts for LOR Gene

mRNA/cDNA for LOR Gene

(1) 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

Loricrin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for LOR Gene

GeneLoc Exon Structure for
LOR
ECgene alternative splicing isoforms for
LOR

Expression for LOR Gene

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



NURSA nuclear receptor signaling pathways regulating expression of LOR Gene:

LOR

SOURCE GeneReport for Unigene cluster for LOR Gene:

Hs.251680

Evidence on tissue expression from TISSUES for LOR Gene

  • Skin(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LOR Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
Regions:
Limb:
  • foot
  • hand
  • lower limb
  • nail
  • upper limb
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with LOR: view

Primer Products

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

Orthologs for LOR Gene

Evolution for LOR Gene

ENSEMBL:
Gene Tree for LOR (if available)
TreeFam:
Gene Tree for LOR (if available)

No data available for Orthologs for LOR Gene

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 Variation AA Info Type
rs886041212 pathogenic, not provided 153,261,628(+) GGGGGG/GGGGGGG coding_sequence_variant, frameshift
rs1000114609 -- 153,261,704(+) G/A coding_sequence_variant, missense_variant
rs1001116290 -- 153,260,305(+) C/T intron_variant
rs1001168823 -- 153,260,625(+) G/A intron_variant
rs1002530240 -- 153,259,016(+) G/A upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv547899 CNV gain 21841781
nsv998032 CNV gain 25217958

Variation tolerance for LOR Gene

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

Additional Variant Information for LOR Gene

Human Gene Mutation Database (HGMD)
LOR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LOR

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

Disorders for LOR Gene

MalaCards: The human disease database

(22) MalaCards diseases for LOR Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
vohwinkel syndrome, variant form
  • vohwinkel syndrome with ichthyosis
vohwinkel syndrome
  • vownkl
ichthyosis vulgaris
  • ichthyosis simplex
molluscum contagiosum
ainhum
  • dactylolysis spontanea
- elite association - COSMIC cancer census association via MalaCards
Search LOR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LORI_HUMAN
  • 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.

Additional Disease Information for LOR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 PM (The Journal of biological chemistry 1992) 2 3 4 22 58
  2. Characterization of human loricrin. Structure and function of a new class of epidermal cell envelope proteins. (PMID: 2007607) Hohl D … Steinert PM (The Journal of biological chemistry 1991) 2 3 4 22 58
  3. Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin. (PMID: 12615358) Ishida-Yamamoto A (Journal of dermatological science 2003) 3 4 22 58
  4. Transglutaminase cross-linking properties of the small proline-rich 1 family of cornified cell envelope proteins. Integration with loricrin. (PMID: 10066784) Candi E … Steinert PM (The Journal of biological chemistry 1999) 3 4 22 58
  5. The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope. (PMID: 9326323) Ishida-Yamamoto A … Christiano AM (American journal of human genetics 1997) 3 4 22 58

Products for LOR Gene

Sources for LOR Gene

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