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] See more...

Aliases for LORICRIN Gene

Aliases for LORICRIN Gene

  • Loricrin Cornified Envelope Precursor Protein 2 3
  • Loricrin 2 3 4 5
  • LOR 3 5
  • LRN 4

External Ids for LORICRIN Gene

Previous HGNC Symbols for LORICRIN Gene

  • LOR

Summaries for LORICRIN Gene

Entrez Gene Summary for LORICRIN 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 LORICRIN Gene

LORICRIN (Loricrin Cornified Envelope Precursor Protein) is a Protein Coding gene. Diseases associated with LORICRIN include Vohwinkel Syndrome, Variant Form and Vohwinkel Syndrome. Among its related pathways are Keratinization and Developmental Biology.

UniProtKB/Swiss-Prot Summary for LORICRIN Gene

Gene Wiki entry for LORICRIN Gene

Additional gene information for LORICRIN Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LORICRIN Gene

Genomics for LORICRIN Gene

GeneHancer (GH) Regulatory Elements for LORICRIN Gene

Promoters and enhancers for LORICRIN 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
GH01J153260 Enhancer 0.6 ENCODE 500.7 +1.7 1725 0.2 ZIC2 ZBTB26 EZH2 ZNF341 MXI1 ZFHX2 IKZF1 EGR1 SUZ12 EGR2 LORICRIN JA662200 lnc-LOR-1
GH01J153259 Promoter 0.3 EPDnew 500.7 +0.0 33 0.1 HSALNG0007276 LORICRIN JA662200
GH01J153231 Enhancer 0.8 Ensembl ENCODE 11.5 -28.4 -28429 6.4 CTCF ESRRA NR2C1 NR2F1 ZNF654 NFATC3 NFIB RAD21 TBX21 HNF4A PRR9 LORICRIN LELP1 SMCP SPRR2G ENSG00000230779 lnc-LOR-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LORICRIN on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for LORICRIN Gene

Genomic Locations for LORICRIN 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)
Size:
2,425 bases
Orientation:
Plus strand

Genomic View for LORICRIN Gene

Genes around LORICRIN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for LORICRIN Gene

Proteins for LORICRIN Gene

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

    Protein Symbol:
    P23490-LORI_HUMAN
    Recommended name:
    Loricrin
    Protein Accession:
    P23490
    Secondary Accessions:
    • Q5T869
    • Q5XKF8

    Protein attributes for LORICRIN Gene

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

neXtProt entry for LORICRIN Gene

Post-translational modifications for LORICRIN Gene

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

Other Protein References for LORICRIN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LORICRIN Gene

Domains & Families for LORICRIN Gene

Gene Families for LORICRIN Gene

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

Protein Domains for LORICRIN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LORICRIN Gene

GenScript: Design optimal peptide antigens:
  • Loricrin (LORI_HUMAN)
  • LOR protein (Q6FHY3_HUMAN)
genes like me logo Genes that share domains with LORICRIN: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LORICRIN Gene

Function for LORICRIN Gene

Molecular function for LORICRIN Gene

UniProtKB/Swiss-Prot Function:
Major keratinocyte cell envelope protein.

Phenotypes From GWAS Catalog for LORICRIN Gene

Gene Ontology (GO) - Molecular Function for LORICRIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton TAS 2007607
GO:0005515 protein binding IPI 7592852
GO:0030280 structural constituent of epidermis IDA,IEA 7543090
genes like me logo Genes that share ontologies with LORICRIN: view
genes like me logo Genes that share phenotypes with LORICRIN: view

Human Phenotype Ontology for LORICRIN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LORICRIN Gene

Localization for LORICRIN Gene

Subcellular locations from UniProtKB/Swiss-Prot for LORICRIN 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 LORICRIN gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 4
extracellular 3
cytoskeleton 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for LORICRIN 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 LORICRIN: view

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

Pathways & Interactions for LORICRIN Gene

PathCards logo

SuperPathways for LORICRIN Gene

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

Pathways by source for LORICRIN Gene

SIGNOR curated interactions for LORICRIN Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for LORICRIN Gene

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

Drugs & Compounds for LORICRIN Gene

(6) Drugs for LORICRIN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

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

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

Transcripts for LORICRIN Gene

mRNA/cDNA for LORICRIN Gene

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

CRISPR Products

Inhibitory RNA Products

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

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

No ASD Table

Relevant External Links for LORICRIN Gene

GeneLoc Exon Structure for
LORICRIN

Expression for LORICRIN Gene

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

SOURCE GeneReport for Unigene cluster for LORICRIN Gene:

Hs.251680

Evidence on tissue expression from TISSUES for LORICRIN Gene

  • Skin(4.8)

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

Germ Layers:
  • ectoderm
Systems:
  • integumentary
Regions:
Limb:
  • foot
  • hand
  • lower limb
  • nail
  • upper limb
General:
  • hair
  • skin
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , 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 and mRNA Expression by UniProt/SwissProt for LORICRIN Gene

Orthologs for LORICRIN Gene

Evolution for LORICRIN Gene

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

No data available for Orthologs for LORICRIN Gene

Paralogs for LORICRIN Gene

No data available for Paralogs for LORICRIN Gene

Variants for LORICRIN Gene

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

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
709688 Benign: not provided 153,261,803(+) C/T MISSENSE_VARIANT
736227 Likely Benign: not provided 153,261,204(+) T/A SYNONYMOUS_VARIANT
739827 Likely Benign: not provided 153,261,823(+) G/A MISSENSE_VARIANT
740338 Likely Benign: not provided 153,261,432(+) C/T SYNONYMOUS_VARIANT
777329 Benign: not provided 153,261,225(+) A/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for LORICRIN Gene

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

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

Variation tolerance for LORICRIN Gene

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

Additional Variant Information for LORICRIN Gene

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

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

Disorders for LORICRIN Gene

MalaCards: The human disease database

(36) MalaCards diseases for LORICRIN Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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 LORICRIN

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

No data available for Genatlas for LORICRIN Gene

Publications for LORICRIN Gene

  1. The human loricrin gene. (PMID: 1355480) Yoneda K … Steinert PM (The Journal of biological chemistry 1992) 2 3 4 23 54
  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 23 54
  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 23 54
  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 23 54
  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 23 54

Products for LORICRIN Gene

Sources for LORICRIN Gene