EPYC (epiphycan)

2014-08-01  

Identity

HGNC
LOCATION
12q21.33
LOCUSID
ALIAS
DSPG3,PGLB,Pg-Lb,SLRR3B
FUSION GENES

Other Information

Locus ID:

NCBI: 1833
MIM: 601657
HGNC: 3053
Ensembl: ENSG00000083782

Variants:

dbSNP: 1833
ClinVar: 1833
TCGA: ENSG00000083782
COSMIC: EPYC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000083782ENST00000261172Q99645
ENSG00000083782ENST00000261172A0A024RBC3
ENSG00000083782ENST00000551767F8VSI4

Expression (GTEx)

0
1

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
169024022006The association of single nucleotide polymorphisms in the 5'-regulatory region of the lumican gene with susceptibility to high myopia in Taiwan.25
196168522009The association of haplotype at the lumican gene with high myopia susceptibility in Taiwanese patients.17
175588462007Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2.4
198445862009An evaluation of OPTC and EPYC as candidate genes for high myopia.3
198445862009An evaluation of OPTC and EPYC as candidate genes for high myopia.3
203571982010Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC.3

Citation

Dessen P

EPYC (epiphycan)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54288/epyc-(epiphycan)