The EPHA2 gene homepage

General information
Gene symbol EPHA2
Gene name EPH receptor A2
Chromosome 1
Chromosomal band p36
Imprinted Unknown
Genomic reference NG_021396.1
Transcript reference NM_004431.3
Exon/intron information NM_004431.3 exon/intron table
Associated with diseases CTRCT6
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 84
Unique public DNA variants reported 67
Individuals with public variants 348
Hidden variants -
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated January 17, 2024
Version EPHA2:240117

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_004431.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/EPHA2
HGNC 3386
Entrez Gene 1969
PubMed articles EPHA2
OMIM - Gene 176946
OMIM - Diseases CTRCT6 (cataract, type 6 (CTRCT-6))
HGMD EPHA2
GeneCards EPHA2
GeneTests EPHA2
Orphanet EPHA2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00007156 1 EPH receptor A2 NM_004431.3 NP_004422.2 84


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