LORICRIN (loricrin cornified envelope precursor protein)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 4014
Gene name Loricrin cornified envelope precursor protein
Gene symbol LORICRIN
Synonyms (NCBI Gene)
LOR
Chromosome 1
Chromosome location 1q21.3
Summary 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 inh
SNPs SNP information provided by dbSNP.
2
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs886041212 ->G Pathogenic Frameshift variant, coding sequence variant
rs1571081028 ->T Likely-pathogenic Coding sequence variant, frameshift variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (19)
GO ID Ontology Definition Evidence Reference
GO:0001533 Component Cornified envelope IBA
GO:0001533 Component Cornified envelope IDA 7543090, 10908733, 11698679
GO:0001533 Component Cornified envelope IEA
GO:0001533 Component Cornified envelope TAS
GO:0005200 Function Structural constituent of cytoskeleton TAS 2007607
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
152445 6663 ENSG00000203782
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P23490
Protein name Loricrin
Protein function Major keratinocyte cell envelope protein.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15847 Loricrin 1 → 312 Major keratinocyte cell envelope protein Family
Sequence
Sequence length 312
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Formation of the cornified envelope
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
10
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Loricrin keratoderma Likely pathogenic; Pathogenic rs888685157, rs2526493515, rs1344567623, rs886041212, rs2526494253 RCV001782391
RCV002471825
RCV004798956
RCV002284965
RCV000015500
Moyamoya angiopathy Likely pathogenic rs769843541 RCV004704486
Show/Hide Text Mining Associations (22)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cleft Palate Associate 32241273
Dermatitis Allergic Contact Associate 31783056
Dermatitis Atopic Associate 32213830, 33321923, 33975024, 37156706
Dermatitis Atopic 1 Associate 28892018
Dry Eye Syndromes Associate 28892018
Erythrokeratoderma Reticular Associate 11121146, 20236940, 9665400
Erythrokeratodermia Variabilis Associate 9326323
Glut1 Deficiency Syndrome Inhibit 33321923
Hearing Loss Sensorineural Associate 9326398
Ichthyosis Associate 15102081, 20236940, 29803800, 9326398, 9764857