EPS8L2 (EPS8 like 2)

2014-08-01  

Identity

HGNC
LOCATION
11p15.5
LOCUSID
ALIAS
DFNB106,EPS8R2
FUSION GENES

Other Information

Locus ID:

NCBI: 64787
MIM: 614988
HGNC: 21296
Ensembl: ENSG00000177106

Variants:

dbSNP: 64787
ClinVar: 64787
TCGA: ENSG00000177106
COSMIC: EPS8L2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177106ENST00000318562Q9H6S3
ENSG00000177106ENST00000524763E9PLH1
ENSG00000177106ENST00000526198Q9H6S3
ENSG00000177106ENST00000526909E9PM34
ENSG00000177106ENST00000527199E9PNY4
ENSG00000177106ENST00000528770H0YF37
ENSG00000177106ENST00000530452H0YD62
ENSG00000177106ENST00000530636Q9H6S3
ENSG00000177106ENST00000531348E9PNT0
ENSG00000177106ENST00000533256Q9H6S3
ENSG00000177106ENST00000533500E9PLN2
ENSG00000177106ENST00000534755E9PN68
ENSG00000177106ENST00000610855A0A087WX39
ENSG00000177106ENST00000614442Q9H6S3
ENSG00000177106ENST00000650127A0A3B3ISQ4

Expression (GTEx)

0
50
100
150
200
250
300

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
262823982015EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss.4

Citation

Dessen P

EPS8L2 (EPS8 like 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54287/eps8l2-(eps8-like-2)