LORICRIN (loricrin cornified envelope precursor protein)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4014
Gene name Gene Name - the full gene name approved by the HGNC.
Loricrin cornified envelope precursor protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LORICRIN
Synonyms (NCBI Gene) Gene synonyms aliases
LOR
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q21.3
Summary Summary of gene provided in NCBI Entrez 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 inh
SNPs SNP information provided by dbSNP.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0001533 Component Cornified envelope IBA 21873635
GO:0001533 Component Cornified envelope IDA 7543090, 10908733, 11698679
GO:0001533 Component Cornified envelope TAS
GO:0005200 Function Structural constituent of cytoskeleton TAS 2007607
GO:0005515 Function Protein binding IPI 7592852
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
152445 6663 ENSG00000203782
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal
Disease term Disease name dbSNP ID References
Carcinoma Squamous cell carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 18572023
Erythrokeratodermia variabilis Erythrokeratodermia variabilis rs1114167450, rs1114167451, rs752611378, rs1114167452
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Palmoplantar keratoderma Keratoderma, Palmoplantar rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951
View all (10 more)
Show/Hide Text Mining Associations (22)
Associations from Text Mining
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