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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Loricrin keratoderma Likely pathogenic; Pathogenic rs888685157, rs2526493515, rs1344567623, rs886041212, rs2526494253 RCV001782391
RCV002471825
RCV004798956
RCV002284965
RCV000015500
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Moyamoya angiopathy Likely pathogenic rs769843541 RCV004704486
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (7)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANDROGENETIC ALOPECIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (50)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 14721769
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 2882850, 2991573
★★★★★
★☆☆☆☆
Found in Text Mining only
Amniotic Bands Amniotic Bands HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 12670920
★★★★★
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy BEFREE 30740823
★★★★★
★☆☆☆☆
Found in Text Mining only
Cleft Palate Cleft palate Pubtator 32241273 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital Nonbullous Ichthyosiform Erythroderma Congenital Nonbullous Ichthyosiform Erythroderma BEFREE 11703298
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital Nonbullous Ichthyosiform Erythroderma Congenital Nonbullous Ichthyosiform Erythroderma HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn Disease BEFREE 29077839
★★★★★
★☆☆☆☆
Found in Text Mining only
Dermatitis Allergic Contact Allergic contact dermatitis Pubtator 31783056 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only