LCE3B (late cornified envelope 3B)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 353143
Gene name Late cornified envelope 3B
Gene symbol LCE3B
Synonyms (NCBI Gene)
LEP14
Chromosome 1
Chromosome location 1q21.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (6)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0008544 Process Epidermis development IEA
GO:0031424 Process Keratinization IEA
GO:0031640 Process Killing of cells of another organism IDA 28634035
GO:0050829 Process Defense response to Gram-negative bacterium IDA 28634035
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612614 29462 ENSG00000187238
Protein Protein information from UniProt database.
Gene 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.
Q5TA77
Protein name Late cornified envelope protein 3B (Late envelope protein 14)
Protein function A structural component of the cornified envelope of the stratum corneum involved in innate cutaneous host defense (Probable). Possesses defensin-like antimicrobial activity against a broad spectrum of Gram-positive and Gram-negative bacteria, bo
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14672 LCE 19 → 95 Late cornified envelope Family
Tissue specificity TISSUE SPECIFICITY: Skin-specific. Expression was readily detected in adult trunk skin, adult arm skin, fetal skin, penal skin, vulva, esophagus and tongue. Not expressed in the cervix, rectum, lung, colon, or placenta. {ECO:0000269|PubMed:15854049}.
Sequence
Sequence length 95
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene 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 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 Unknown Diseases (9)
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
ANKYLOSING SPONDYLITIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY SKIN DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (21)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthritis Psoriatic Psoriatic arthritis Pubtator 20331852 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 20213803 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis, Psoriatic Psoriatic Arthritis BEFREE 19439430, 20331852, 21400479, 23631431, 24566688
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 20213803, 21400479, 23594316
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 23594316 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Dermatitis Allergic Contact Allergic contact dermatitis Pubtator 21995181 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Dermatitis, Allergic Contact Dermatitis BEFREE 21995181
★★★★★
★☆☆☆☆
Found in Text Mining only
Dermatitis, Atopic Dermatitis BEFREE 20376060, 22622420
★★★★★
★☆☆☆☆
Found in Text Mining only
Eczema Eczema BEFREE 20376060, 22622420
★★★★★
★☆☆☆☆
Found in Text Mining only
Eczema Eczema Pubtator 21995181 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only