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Gene

ENG

endoglin

Summary

Cytogenetic location
9q34.11
Coordinates
Chromosome 9: 127,815,016–127,854,658 (GRCh38)
Exons
15 exons across 39.6 kb
Protein
658 amino acids
Inheritance
Autosomal dominant
Also known as
END, HHT1, CD105
Previous symbols
ORW1, ORW
MANE Select transcript
ENST00000373203.9NM_001114753.3
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 Hemorrhagic Telangiectasia

    • Telangiectasia, Hereditary Hemorrhagic, Type 1Autosomal dominant
      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list
    • Autosomal dominant

      A disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list
    • Telangiectasis

      Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list

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 ENG is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome 9, with a bracket where ENG sits. ENG and 32 genes near it on chromosome 9, from 127,334,837 to 128,334,836.Chromosome 99q34.11p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.3127.4 Mb127.6 Mb127.8 Mb128 Mb128.2 MbGARNL3: 127,224,265–127,393,683, forward strandGARNL3SLC2A8: 127,397,131–127,408,424, forward strandSLC2A8ZNF79: 127,424,374–127,449,728, forward strandZNF79RPL12: 127,447,422–127,452,094, reverse strandRPL12LRSAM1: 127,451,469–127,503,503, forward strandLRSAM1NIBAN2: 127,505,339–127,579,049, reverse strandNIBAN2STXBP1: 127,579,370–127,696,027, forward strandSTXBP1PTRH1: 127,690,102–127,724,885, reverse strandCFAP157: 127,706,979–127,716,002, forward strandCFAP157TTC16: 127,716,074–127,731,590, forward strandTTC16TOR2A: 127,731,516–127,735,355, reverse strandTOR2ASH2D3C: 127,738,317–127,778,771, reverse strandSH2D3CCDK9: 127,785,252–127,792,871, forward strandCDK9FPGS: 127,794,597–127,815,065, forward strandFPGSENG: 127,815,016–127,854,658, reverse strandENGAK1: 127,866,435–127,878,558, reverse strandAK1: 127,867,850–127,906,022, reverse strandST6GALNAC6: 127,885,320–127,906,632, reverse strandST6GALNAC6ST6GALNAC4: 127,906,919–127,917,057, reverse strandST6GALNAC4PIP5KL1: 127,920,881–127,930,823, reverse strandPIP5KL1DPM2: 127,935,090–127,937,879, reverse strandDPM2EEIG1: 127,939,491–127,981,075, reverse strandNAIF1: 128,061,233–128,068,206, reverse strandNAIF1SLC25A25: 128,068,169–128,109,245, forward strandSLC25A25PTGES2: 128,120,693–128,128,462, reverse strandPTGES2LCN2: 128,149,071–128,153,454, forward strandLCN2BBLN: 128,160,219–128,163,928, forward strandBBLNCIZ1: 128,161,233–128,204,482, reverse strandCIZ1DNM1: 128,191,655–128,255,254, forward strandDNM1GOLGA2: 128,255,829–128,276,036, reverse strandGOLGA2SWI5: 128,275,379–128,316,123, forward strandSWI5TRUB2: 128,305,159–128,322,741, reverse strandTRUB2COQ4: 128,322,483–128,334,073, forward strandCOQ4Diagram of ENG: 15 exons on the reverse strand of chromosome 9Exon 14: 2 known disease-causing sitesExon 13: 8 known disease-causing sitesExon 12: 48 known disease-causing sitesExon 11: 23 known disease-causing sitesExon 10: 10 known disease-causing sitesExon 9: 33 known disease-causing sitesExon 8: 23 known disease-causing sitesExon 7: 38 known disease-causing sitesExon 6: 40 known disease-causing sitesExon 5: 35 known disease-causing sitesExon 4: 26 known disease-causing sitesExon 3: 26 known disease-causing sitesExon 2: 23 known disease-causing sitesExon 1: 17 known disease-causing sitesExon 15: 127,815,016–127,815,806, 791 basesExon 14: 127,815,943–127,816,053, 111 bases. 1 variant with a page in exon 14. List themExon 13: 127,817,149–127,817,203, 55 bases. 1 variant with a page in exon 13. List themExon 12: 127,818,120–127,818,377, 258 bases. 8 variants with a page in exon 12. List themExon 11: 127,818,716–127,818,832, 117 bases. 2 variants with a page in exon 11. List themExon 10: 127,819,622–127,819,660, 39 bases. 3 variants with a page in exon 10. List themExon 9: 127,819,900–127,820,037, 138 bases. 3 variants with a page in exon 9. List themExon 8: 127,824,304–127,824,446, 143 bases. 2 variants with a page in exon 8. List themExon 7: 127,824,800–127,824,974, 175 bases. 4 variants with a page in exon 7. List themExon 6: 127,825,231–127,825,357, 127 bases. 3 variants with a page in exon 6. List themExon 5: 127,825,695–127,825,860, 166 bases. 4 variants with a page in exon 5. List themExon 4: 127,826,510–127,826,672, 163 bases. 3 variants with a page in exon 4. List themExon 3: 127,829,687–127,829,827, 141 bases. 1 variant with a page in exon 3. List themExon 2: 127,843,094–127,843,245, 152 bases. 2 variants with a page in exon 2. List themExon 1: 127,854,289–127,854,658, 370 bases. 3 variants with a page in exon 1. List them1510515′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 2.9 kb of the gene's 39.6 kb; 1,977 of those bases code for the protein.

How a genome test reads ENG

415

positions in ENG 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 39.6 kb of ENG, introns included, not only the 2.9 kb of exons.

Variants with a page (46)

The ENG variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
c.2T>GExon 1127,854,354Pathogenic3 stars out of 4 reviewed by expert panel
C382Yc.1145G>AExon 9127,820,027Pathogenic3 stars out of 4 reviewed by expert panel
C549Gc.1645T>GExon 12127,818,161Likely pathogenic3 stars out of 4 reviewed by expert panel
G331Sc.991G>AExon 7127,824,800Pathogenic3 stars out of 4 reviewed by expert panel
G603Rc.1807G>AExon 14127,815,988Likely pathogenic3 stars out of 4 reviewed by expert panel
L221Pc.662T>CExon 5127,825,722Likely pathogenic3 stars out of 4 reviewed by expert panel
L506Hc.1517T>AExon 12127,818,289Likely pathogenic3 stars out of 4 reviewed by expert panel
N423Sc.1268A>GExon 9127,819,904Likely pathogenic3 stars out of 4 reviewed by expert panel
R529Hc.1586G>AExon 12127,818,220Pathogenic3 stars out of 4 reviewed by expert panel
V440Gc.1319T>GExon 11127,818,825Likely pathogenic3 stars out of 4 reviewed by expert panel

See all 46 ENG variants →

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.). ENG gene: endoglin. Retrieved 16 October 2026, from https://dantelabs.com/genes/eng

Vancouver

Dante Labs. ENG gene: endoglin [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/eng

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