LCE3A late cornified envelope 3A [Homo sapiens (human)] - Gene

Summary

Official Symbol: LCE3Aprovided by HGNC
Official Full Name: late cornified envelope 3Aprovided by HGNC
Primary source: HGNC:HGNC:29461
See related: Ensembl:ENSG00000185962 MIM:612613; AllianceGenome:HGNC:29461
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LEP13
Summary: Involved in defense response to Gram-negative bacterium; defense response to Gram-positive bacterium; and killing of cells of another organism. [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: all
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Genomic context

Location:: 1q21.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (152622834..152623103, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (151759380..151759649, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (152595310..152595579, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Functional Mapping of Genetic Interactions between HLA-Cw6 and LCE3A in Psoriasis.
Title: Functional Mapping of Genetic Interactions between HLA-Cw6 and LCE3A in Psoriasis.
genetic polymorphism is associated with psoriasis vulgaris among Mongolians from Inner Mongolia
Title: Association between LCE gene polymorphisms and psoriasis vulgaris among Mongolians from Inner Mongolia.
analysis of disease variants at the LCE3 cluster among the psoriasis patients in India
Title: Increased Risk of Psoriasis due to combined effect of HLA-Cw6 and LCE3 risk alleles in Indian population.
Observational study of gene-disease association. (HuGE Navigator)
Title: Variation in genes of the epidermal differentiation complex in German atopic dermatitis patients.
paper describing nomenclature changes and expression in range of tissues and in response to UV
Title: Late cornified envelope family in differentiating epithelia--response to calcium and ultraviolet irradiation.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in defense response to Gram-negative bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to Gram-positive bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in keratinization	IEA Inferred from Electronic Annotation more info
involved_in killing of cells of another organism	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: late cornified envelope protein 3A

Names: late envelope protein 13

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.