LCE3B late cornified envelope 3B [Homo sapiens (human)] - Gene

Summary

Official Symbol: LCE3Bprovided by HGNC
Official Full Name: late cornified envelope 3Bprovided by HGNC
Primary source: HGNC:HGNC:29462
See related: Ensembl:ENSG00000187238 MIM:612614; AllianceGenome:HGNC:29462
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: LEP14
Summary: Involved in defense response to Gram-negative bacterium; defense response to Gram-positive bacterium; and killing of cells of other organism. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: all
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Genomic context

Location:: 1q21.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (152613811..152614098)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (151750365..151750652)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (152586287..152586574)

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?

Antimicrobial Late Cornified Envelope Proteins: The Psoriasis Risk Factor Deletion of LCE3B/C Genes Affects Microbiota Composition.
Title: Antimicrobial Late Cornified Envelope Proteins: The Psoriasis Risk Factor Deletion of LCE3B/C Genes Affects Microbiota Composition.
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.
Our data suggest that The LCE deletion, previously identified in patients with psoriasis, is not of a major importance in the development of PsA in Tunisian patients
Title: Deletion of late cornified envelope genes, LCE3C_LCE3B-del, is not associated with psoriatic arthritis in Tunisian patients.
No evidence of association was seen between the LCE3C_LCE3B-del and psoriasis in 34 patients from 7 multiplex Tunisian families. No epistasic effect was found between the deletion and PSORS1 locus.
Title: Failure to find evidence for deletion of LCE3C and LCE3B genes at PSORS4 contributing to psoriasis susceptibility in Tunisian families.
Our meta-analysis demonstrates a significant association between psoriasis and the LCE3C_LCE3B-del polymorphism in Europeans and Asians, but no association with psoriatic arthritis.
Title: Association between the LCE3C_LCE3B deletion polymorphism and susceptibility to psoriasis: a meta-analysis of published studies.
The LCE3C_LCE3B-del might play a role in familial psoriasis in the Tunisian population.
Title: Association analysis of LCE3C-LCE3B deletion in Tunisian psoriatic population.
Paediatric-onset psoriasis is associated with .......... LCE3C_LCE3B deletion
Title: Paediatric-onset psoriasis is associated with ERAP1 and IL23R loci, LCE3C_LCE3B deletion and HLA-C*06.
LCE3C_LCE3B-del is a common risk factor for (auto)immune diseases
Title: A replication study of the association between rheumatoid arthritis and deletion of the late cornified envelope genes LCE3B and LCE3C.
results suggest that the Koebner phenomenon in psoriasis is unlikely to be dependent on the LCE3B/C genotype
Title: Koebner phenomenon in psoriasis is not associated with deletion of late cornified envelope genes LCE3B and LCE3C.
The findings indicate that the LCE3C_LCE3B-del is an important risk factor in the pathogenesis of psoriasis and that the LCE3C_LCE3B-del does not show an epistatic effect with the HLA-Cw6 allele on susceptibility to psoriasis in the northern Chinese
Title: Deletion of LCE3C and LCE3B genes is associated with psoriasis in a northern Chinese population.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 3B

Names: late envelope protein 14

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.