Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Gene ontology Other IDs Protein Pathways
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4014
Gene name Gene Name - the full gene name approved by the HGNC.	Loricrin cornified envelope precursor protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	LORICRIN
Synonyms (NCBI Gene) Gene synonyms aliases	LOR
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q21.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells. Mutations in this gene are associated with Vohwinkel`s syndrome and progressive symmetric erythrokeratoderma, both inh

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SNP ID	Visualize variation	Clinical significance	Consequence
rs886041212	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1571081028	->T	Likely-pathogenic	Coding sequence variant, frameshift variant

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IBA
GO:0001533	Component	Cornified envelope	IDA	7543090, 10908733, 11698679
GO:0001533	Component	Cornified envelope	IEA
GO:0001533	Component	Cornified envelope	TAS
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	2007607
GO:0005515	Function	Protein binding	IPI	7592852
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	11698679
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0018149	Process	Peptide cross-linking	IDA	10908733
GO:0030216	Process	Keratinocyte differentiation	IDA	10908733
GO:0030280	Function	Structural constituent of skin epidermis	IBA
GO:0030280	Function	Structural constituent of skin epidermis	IDA	7543090
GO:0030280	Function	Structural constituent of skin epidermis	IEA
GO:0031424	Process	Keratinization	IEA

MIM	HGNC	e!Ensembl
152445	6663	ENSG00000203782

Protein

UniProt ID

P23490

Protein name

Loricrin

Protein function

Major keratinocyte cell envelope protein.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15847	Loricrin	1 → 312	Major keratinocyte cell envelope protein	Family

Sequence

MSYQKKQPTPQPPVDCVKTSGGGGGGGGSGGGGCGFFGGGGSGGGSSGSGCGYSGGGGYS
GGGCGGGSSGGGGGGGIGGCGGGSGGSVKYSGGGGSSGGGSGCFSSGGGGSGCFSSGGGG
SSGGGSGCFSSGGGGSSGGGSGCFSSGGGGFSGQAVQCQSYGGVSSGGSSGGGSGCFSSG
GGGGSVCGYSGGGSGCGGGSSGGSGSGYVSSQQVTQTSCAPQPSYGGGSSGGGGSGGSGC
FSSGGGGGSSGCGGGSSGIGSGCIISGGGSVCGGGSSGGGGGGSSVGGSGSGKGVPICHQ
TQQKQAPTWPSK

Sequence length

312

Interactions

View interactions

	Reactome
			Formation of the cornified envelope

LORICRIN (loricrin cornified envelope precursor protein)