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Gene

EPHB4

EPH receptor B4

Summary

Cytogenetic location
7q22.1
Coordinates
Chromosome 7: 100,802,565–100,827,523 (GRCh38)
Exons
17 exons across 25 kb
Protein
987 amino acids
Inheritance
Autosomal dominant
Also known as
Tyro11
Previous symbols
HTK
MANE Select transcript
ENST00000358173.8NM_004444.5
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

  • Hereditary Vascular Malformations

    • EPHB4-Associated Vascular Malformation SpectrumAutosomal dominant

      A range of vascular and lymphatic malformations caused by changes in EPHB4, from skin capillary marks to arteriovenous malformations.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
    • Capillary Malformation-Arteriovenous Malformation SyndromeAutosomal dominant

      A condition caused by changes in RASA1 or EPHB4 that causes multiple small pink-red skin marks and, in some people, fast-flow arteriovenous malformations in the brain, spine or limbs.

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

      Knowing about it supports brain and spine imaging and screening of relatives.

  • Primary Lymphoedema & Lymphatic Malformations

    • Lymphatic Malformation 7Autosomal dominant

      A condition caused by changes in EPHB4 that can cause fluid build-up before birth (fetal hydrops) or a hole between the upper heart chambers.

      • 1 GenCC submitter rates it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How EPHB4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where EPHB4 sits. EPHB4 and 43 genes near it on chromosome 7, from 100,315,044 to 101,315,043.Chromosome 77q22.1p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.3100.4 Mb100.6 Mb100.8 Mb101 Mb101.2 MbSPDYE3: 100,307,702–100,322,372, forward strandSPDYE3PILRB: 100,351,627–100,367,831, forward strandPILRBPILRA: 100,367,530–100,400,098, forward strand: 100,397,577–100,434,107, forward strandZCWPW1: 100,400,826–100,428,992, reverse strandMEPCE: 100,428,322–100,435,138, forward strandMEPCEPPP1R35: 100,435,261–100,436,546, reverse strandPPP1R35SPACDR: 100,456,620–100,464,277, reverse strandSPACDRTSC22D4: 100,466,508–100,479,257, reverse strandTSC22D4: 100,478,099–100,478,170, reverse strandNYAP1: 100,483,605–100,494,802, forward strandNYAP1AGFG2: 100,539,169–100,569,429, forward strandAGFG2SAP25: 100,572,228–100,573,916, reverse strandLRCH4: 100,574,011–100,586,236, reverse strandLRCH4FBXO24: 100,583,982–100,601,117, forward strandPCOLCE: 100,602,321–100,608,175, forward strandPCOLCEMOSPD3: 100,612,102–100,616,004, forward strandMOSPD3TFR2: 100,620,416–100,642,779, reverse strandTFR2ACTL6B: 100,643,097–100,656,458, reverse strandACTL6BGNB2: 100,673,477–100,679,174, forward strandGNB2GIGYF1: 100,679,505–100,694,481, reverse strandGIGYF1POP7: 100,695,902–100,708,628, forward strandPOP7EPO: 100,720,465–100,723,700, forward strandEPOZAN: 100,733,595–100,797,797, forward strandZANEPHB4: 100,802,565–100,827,523, reverse strandEPHB4SLC12A9: 100,826,820–100,867,017, forward strandSLC12A9TRIP6: 100,867,126–100,873,524, forward strandTRIP6SRRT: 100,875,065–100,888,664, forward strandSRRTUFSP1: 100,888,721–100,889,715, reverse strandUFSP1ACHE: 100,889,993–100,897,022, reverse strandMUC3A: 100,949,414–100,968,348, forward strandMUC3AMUC12: 100,969,431–101,018,940, forward strandMUC12MUC17: 101,020,072–101,058,859, forward strandMUC17TRIM56: 101,085,234–101,097,967, forward strandTRIM56SERPINE1: 101,122,158–101,139,263, forward strandSERPINE1AP1S1: 101,154,352–101,161,596, forward strandAP1S1VGF: 101,162,509–101,167,245, reverse strandVGFNAT16: 101,170,496–101,180,301, reverse strandNAT16MOGAT3: 101,195,007–101,201,088, reverse strandPLOD3: 101,205,977–101,219,968, reverse strandPLOD3ZNHIT1: 101,218,117–101,224,195, forward strandZNHIT1CLDN15: 101,232,092–101,238,820, reverse strandCLDN15FIS1: 101,239,458–101,252,321, reverse strandFIS1IFT22: 101,310,914–101,321,831, reverse strandIFT22Diagram of EPHB4: 17 exons on the reverse strand of chromosome 7Exon 17: 1 known disease-causing siteExon 16: 2 known disease-causing sitesExon 15: 4 known disease-causing sitesExon 14: 9 known disease-causing sitesExon 13: 7 known disease-causing sitesExon 12: 6 known disease-causing sitesExon 11: 3 known disease-causing sitesExon 10: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 6: 7 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 3 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 2: 1 known disease-causing siteExon 1: 1 known disease-causing siteExon 17: 100,802,565–100,803,590, 1,026 basesExon 16: 100,805,166–100,805,321, 156 basesExon 15: 100,805,501–100,805,694, 194 basesExon 14: 100,806,420–100,806,569, 150 basesExon 13: 100,807,365–100,807,580, 216 basesExon 12: 100,812,747–100,812,994, 248 basesExon 11: 100,813,095–100,813,208, 114 basesExon 10: 100,813,652–100,813,716, 65 basesExon 9: 100,813,919–100,814,021, 103 basesExon 8: 100,817,192–100,817,357, 166 basesExon 7: 100,818,520–100,818,644, 125 basesExon 6: 100,819,557–100,819,889, 333 basesExon 5: 100,820,141–100,820,296, 156 basesExon 4: 100,822,271–100,822,667, 397 basesExon 3: 100,823,644–100,823,931, 288 basesExon 2: 100,824,203–100,824,273, 71 basesExon 1: 100,826,979–100,827,523, 545 bases1716141210864215′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 4.4 kb of the gene's 25 kb; 2,964 of those bases code for the protein.

How a genome test reads EPHB4

56

positions in EPHB4 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 25 kb of EPHB4, introns included, not only the 4.4 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.). EPHB4 gene: EPH receptor B4. Retrieved 16 October 2026, from https://dantelabs.com/genes/ephb4

Vancouver

Dante Labs. EPHB4 gene: EPH receptor B4 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ephb4

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