Gene Gene information from NCBI Gene database.
Entrez ID 353139
Gene name Late cornified envelope 2A
Gene symbol LCE2A
Synonyms (NCBI Gene)
LEP9
Chromosome 1
Chromosome location 1q21.3
miRNA miRNA information provided by mirtarbase database.
6
miRTarBase ID miRNA Experiments Reference
MIRT2260094 hsa-miR-3192 CLIP-seq
MIRT2260095 hsa-miR-326 CLIP-seq
MIRT2260096 hsa-miR-330-5p CLIP-seq
MIRT2260097 hsa-miR-4314 CLIP-seq
MIRT2260098 hsa-miR-4639-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183, 32814053
GO:0008544 Process Epidermis development IEA
GO:0031424 Process Keratinization IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612609 29469 ENSG00000187173
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5TA79
Protein name Late cornified envelope protein 2A (Late envelope protein 9)
Protein function Precursors of the cornified envelope of the stratum corneum.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14672 LCE 26 59 Late cornified envelope Family
PF14672 LCE 50 106 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
MSCQQNQQQCQPPPKCPPKCPPKCPPKCRPQCPAPCPPPVSSCCGPSSGGCCGSSSGGCC
SSGGGGCCLSHHRPRLFHRHRHQSPDCCECEPSGGSGCCHSSGDCC
Sequence length 106
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Formation of the cornified envelope
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
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
PSORIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations