LCE2B (late cornified envelope 2B)

Gene

• Entrez ID: 26239
• Gene name: Late cornified envelope 2B
• Gene symbol: LCE2B
• Synonyms (NCBI Gene): LEP10, SPRL1B, XP5
• Chromosome: 1
• Chromosome location: 1q21.3
• Summary: This gene is one of the at least 20 genes expressed during epidermal differentiation and located on chromosomal band 1q21. This gene is involved in epidermal differentiation, and it is expressed at high levels in normal and psoriatic skin, but not in cult

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2260100	hsa-miR-150	CLIP-seq
MIRT2260101	hsa-miR-1915	CLIP-seq
MIRT2260102	hsa-miR-3189-5p	CLIP-seq
MIRT2260103	hsa-miR-4323	CLIP-seq
MIRT2260104	hsa-miR-4713-5p	CLIP-seq
MIRT2260105	hsa-miR-4726-3p	CLIP-seq
MIRT2260106	hsa-miR-532-3p	CLIP-seq
MIRT2260107	hsa-miR-671-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0008544	Process	Epidermis development	IEA
GO:0008544	Process	Epidermis development	NAS	9344646
GO:0031424	Process	Keratinization	IEA
GO:0042802	Function	Identical protein binding	IPI	32296183

Other IDs

• MIM: 612610
• HGNC: 16610
• e!Ensembl: ENSG00000159455

Protein

• UniProt ID: O14633
• Protein name: Late cornified envelope protein 2B (Late envelope protein 10) (Skin-specific protein Xp5) (Small proline-rich-like epidermal differentiation complex protein 1B)
• Protein function: Precursors of the cornified envelope of the stratum corneum.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14672	LCE	54 → 110	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, ECO:0
• Sequence:

  MSCQQNQQQCQPPPKCPPKCTPKCPPKCPPKCLPQCPAPCSPAVSSCCGPISGGCCGPSS
  GGCCNSGAGGCCLSHHRPRLFHRRRHQSPDCCESEPSGGSGCCHSSGGCC

• Sequence length: 110

Pathways

Reactome:

Formation of the cornified envelope

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29662167		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25256075		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29662167		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32691230	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	1188925	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	27607234, 27982466		★☆☆☆☆ Found in Text Mining only