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Gene

EFNB1

ephrin B1

Summary

Cytogenetic location
Xq13.1
Coordinates
Chromosome X: 68,829,021–68,842,160 (GRCh38)
Exons
5 exons across 13.1 kb
Protein
346 amino acids
Also known as
LERK2, Elk-L
Previous symbols
EPLG2, CFNS
MANE Select transcript
ENST00000204961.5NM_004429.5
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 reports relevant to this gene

No Genome Test report reads EFNB1 yet. The test sequences your whole genome, so your data includes it all the same.

How EFNB1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome X, with a bracket where EFNB1 sits. EFNB1 and 4 genes near it on chromosome X, from 68,335,591 to 69,335,590.Chromosome XXq13.1p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2868.4 Mb68.6 Mb68.8 Mb69 Mb69.2 MbOPHN1: 67,949,349–68,434,120, reverse strandOPHN1YIPF6: 68,498,549–68,614,530, forward strandYIPF6STARD8: 68,647,666–68,725,842, forward strandSTARD8EFNB1: 68,829,021–68,842,160, forward strandEFNB1PJA1: 69,160,721–69,165,526, reverse strandPJA1Diagram of EFNB1: 5 exons on the forward strand of chromosome XExon 1: 7 known disease-causing sitesExon 2: 11 known disease-causing sitesExon 3: 8 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 5: 1 known disease-causing siteExon 1: 68,829,021–68,829,904, 884 basesExon 2: 68,838,617–68,838,894, 278 basesExon 3: 68,839,664–68,839,756, 93 basesExon 4: 68,839,960–68,840,088, 129 basesExon 5: 68,840,242–68,842,160, 1,919 bases123455′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 3.3 kb of the gene's 13.1 kb; 1,041 of those bases code for the protein.

How a genome test reads EFNB1

36

positions in EFNB1 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 13.1 kb of EFNB1, introns included, not only the 3.3 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.
  • 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.). EFNB1 gene: ephrin B1. Retrieved 16 October 2026, from https://dantelabs.com/genes/efnb1

Vancouver

Dante Labs. EFNB1 gene: ephrin B1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/efnb1

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