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Gene

EPHA2

EPH receptor A2

Summary

Cytogenetic location
1p36.13
Coordinates
Chromosome 1: 16,124,337–16,156,069 (GRCh38)
Exons
17 exons across 31.7 kb
Protein
976 amino acids
Previous symbols
ECK
MANE Select transcript
ENST00000358432.8NM_004431.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Hereditary Congenital & Juvenile Cataract

    • Early-Onset Non-Syndromic Cataract

      Cataract that appears at birth or early in life without other features, caused by changes in lens genes such as the crystallins (CRYAA, CRYBB2, CRYGD and others), GJA3, GJA8 and MIP.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Early detection and surgery in children help prevent permanent vision loss from amblyopia, and family members can be offered eye checks.

How EPHA2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where EPHA2 sits. EPHA2 and 21 genes near it on chromosome 1, from 15,640,203 to 16,640,202.Chromosome 11p36.13p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4415.8 Mb16 Mb16.2 Mb16.4 Mb16.6 MbDDI2: 15,617,416–15,669,044, forward strandDDI2RSC1A1: 15,659,713–15,662,033, forward strandRSC1A1PLEKHM2: 15,681,461–15,734,771, forward strandPLEKHM2SLC25A34: 15,736,176–15,741,392, forward strandSLC25A34TMEM82: 15,742,488–15,747,982, forward strandTMEM82FBLIM1: 15,756,604–15,786,594, forward strandFBLIM1UQCRHL: 15,807,169–15,809,348, reverse strandUQCRHLSPEN: 15,836,095–15,940,456, forward strandSPENZBTB17: 15,940,148–15,976,132, reverse strandZBTB17SRARP: 16,004,229–16,009,382, forward strandHSPB7: 16,014,018–16,020,597, reverse strandHSPB7CLCNKA: 16,018,146–16,034,109, forward strandCLCNKACLCNKB: 16,040,252–16,057,367, forward strandCLCNKBFAM131C: 16,057,769–16,073,664, reverse strandFAM131CEPHA2: 16,124,337–16,156,069, reverse strandEPHA2ARHGEF19: 16,197,854–16,212,893, reverse strandARHGEF19CPLANE2: 16,231,692–16,237,214, reverse strandCPLANE2FBXO42: 16,246,840–16,352,494, reverse strandFBXO42SZRD1: 16,352,575–16,398,147, forward strandSZRD1SPATA21: 16,387,117–16,437,424, reverse strandSPATA21NECAP2: 16,440,664–16,460,092, forward strandNECAP2NBPF1: 16,562,319–16,613,562, reverse strandNBPF1Diagram of EPHA2: 17 exons on the reverse strand of chromosome 1Exon 17: 2 known disease-causing sitesExon 14: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 1: 1 known disease-causing siteExon 17: 16,124,337–16,125,320, 984 basesExon 16: 16,129,434–16,129,589, 156 basesExon 15: 16,130,226–16,130,419, 194 basesExon 14: 16,131,721–16,131,870, 150 basesExon 13: 16,132,064–16,132,273, 210 basesExon 12: 16,132,378–16,132,439, 62 basesExon 11: 16,133,180–16,133,368, 189 basesExon 10: 16,133,481–16,133,606, 126 basesExon 9: 16,133,860–16,133,915, 56 basesExon 8: 16,134,468–16,134,567, 100 basesExon 7: 16,135,036–16,135,189, 154 basesExon 6: 16,135,655–16,135,770, 116 basesExon 5: 16,137,853–16,138,185, 333 basesExon 4: 16,138,275–16,138,430, 156 basesExon 3: 16,148,378–16,149,047, 670 basesExon 2: 16,150,896–16,150,963, 68 basesExon 1: 16,155,848–16,156,069, 222 bases171510515′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.9 kb of the gene's 31.7 kb; 2,931 of those bases code for the protein.

How a genome test reads EPHA2

12

positions in EPHA2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 31.7 kb of EPHA2, introns included, not only the 3.9 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). EPHA2 gene: EPH receptor A2. Retrieved 16 October 2026, from https://dantelabs.com/genes/epha2

Vancouver

Dante Labs. EPHA2 gene: EPH receptor A2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/epha2

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