EVPL (envoplakin)

2007-02-01  

Identity

HGNC
LOCATION
17q25.1
LOCUSID
ALIAS
EVPK
FUSION GENES

Other Information

Locus ID:

NCBI: 2125
MIM: 601590
HGNC: 3503
Ensembl: ENSG00000167880

Variants:

dbSNP: 2125
ClinVar: 2125
TCGA: ENSG00000167880
COSMIC: EVPL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167880ENST00000301607Q92817
ENSG00000167880ENST00000586740K7EKI0
ENSG00000167880ENST00000589231K7EQ87

Expression (GTEx)

0
50
100
150
200
250
300
350

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
KeratinizationREACTOMER-HSA-6805567
Formation of the cornified envelopeREACTOMER-HSA-6809371

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
223604202012Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.18
150339902004Co-assembly of envoplakin and periplakin into oligomers and Ca(2+)-dependent vesicle binding: implications for cornified cell envelope formation in stratified squamous epithelia.8
272076552016Selected single-nucleotide polymorphisms in FOXE1, SERPINA5, FTO, EVPL, TICAM1 and SCARB1 are associated with papillary and follicular thyroid cancer risk: replication study in a German population.5
188209402009Detection of anti-envoplakin and anti-periplakin autoantibodies by ELISA in patients with paraneoplastic pemphigus.4
157564452005Infrequent mutation of the human envoplakin gene is closely linked to the tylosis oesophageal cancer locus in sporadic oesophageal squamous cell carcinomas.3
274274352016Extremities of the N-terminus of envoplakin and C-terminus of its linker subdomain are major epitopes of paraneoplastic pemphigus.1

Citation

Dessen P

EVPL (envoplakin)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43888/evpl