Skip to content
Use your HSA or FSA funds

Gene

ERF

ETS2 repressor factor

Summary

Cytogenetic location
19q13.2
Coordinates
Chromosome 19: 42,247,569–42,255,128 (GRCh38)
Exons
4 exons across 7.6 kb
Protein
548 amino acids
Inheritance
Autosomal dominant
Also known as
PE-2, PE2
MANE Select transcript
ENST00000222329.9NM_006494.4
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

  • Noonan Syndrome

    • Autosomal dominant

      Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Cardiac surveillance, developmental support, growth hormone therapy, genetic counseling, MEK inhibitor trials

    • Noonan Syndrome and Noonan-Related Syndromes

      A group of RAS pathway conditions, including Noonan, Costello, cardiofaciocutaneous and Legius syndromes, with variable heart defects, short stature and distinctive facial features.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Knowing about it supports heart, growth and developmental assessment.

  • Syndromic Craniosynostosis

    • Conditions combining early skull suture closure with other features, including Apert, Crouzon, Pfeiffer, Muenke and Saethre-Chotzen syndromes, caused by genes such as FGFR2, FGFR3, FGFR1, TWIST1, TCF12 and ERF.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Early diagnosis allows timely surgery and monitoring of head growth, vision and hearing; milder forms such as Muenke syndrome can go unrecognised in adults, which is relevant to family planning.

Broader groupings

  • Hypertrophic Cardiomyopathy

    • Autosomal dominant

      One of 62 genes linked to it

      A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling

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 ERF is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 19, with a bracket where ERF sits. ERF and 31 genes near it on chromosome 19, from 41,751,349 to 42,751,348.Chromosome 1919q13.2p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4341.8 Mb42 Mb42.2 Mb42.4 Mb42.6 Mb: 41,708,657–41,756,737, forward strandCEACAM6: 41,750,977–41,772,211, forward strandCEACAM6CEACAM3: 41,796,587–41,811,557, forward strandCEACAM3LYPD4: 41,837,073–41,844,718, reverse strandLYPD4DMRTC2: 41,844,743–41,852,333, forward strandDMRTC2RPS19: 41,859,848–41,872,931, forward strandRPS19CD79A: 41,877,104–41,881,372, forward strandCD79AARHGEF1: 41,883,063–41,930,150, forward strandARHGEF1ERFL: 41,907,704–41,928,449, reverse strandERFLRABAC1: 41,956,681–41,959,390, reverse strandRABAC1: 41,956,879–41,994,232, reverse strandATP1A3: 41,966,582–41,997,497, reverse strandATP1A3GRIK5: 41,998,315–42,070,240, reverse strandGRIK5ZNF574: 42,068,477–42,083,096, forward strandZNF574POU2F2: 42,086,110–42,196,585, reverse strandPOU2F2DEDD2: 42,198,593–42,220,140, reverse strand: 42,215,133–42,232,149, reverse strandZNF526: 42,216,774–42,231,887, forward strandZNF526GSK3A: 42,226,225–42,242,625, reverse strandGSK3A: 42,234,583–42,255,132, reverse strandERF: 42,247,569–42,255,128, reverse strandERFCIC: 42,268,508–42,295,801, forward strandCICPAFAH1B3: 42,297,023–42,303,546, reverse strandPAFAH1B3PRR19: 42,302,098–42,310,821, forward strandPRR19TMEM145: 42,313,299–42,325,064, forward strandTMEM145MEGF8: 42,325,518–42,378,769, forward strandMEGF8CNFN: 42,387,019–42,390,299, reverse strandCNFNLIPE: 42,401,497–42,427,388, reverse strandLIPECXCL17: 42,427,995–42,443,029, reverse strandCXCL17CEACAM1: 42,507,230–42,561,234, reverse strandCEACAM1CEACAM8: 42,580,243–42,595,055, reverse strandCEACAM8PSG3: 42,709,084–42,740,524, reverse strandPSG3Diagram of ERF: 4 exons on the reverse strand of chromosome 19Exon 4: 4 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 2: 1 known disease-causing siteExon 4: 42,247,569–42,249,738, 2,170 basesExon 3: 42,249,827–42,249,942, 116 basesExon 2: 42,250,331–42,250,565, 235 basesExon 1: 42,254,978–42,255,128, 151 bases43215′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 2.7 kb of the gene's 7.6 kb; 1,647 of those bases code for the protein.

How a genome test reads ERF

10

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

1 of them (10%) falls in a region short reads find hard.

  • Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

A whole genome covers all 7.6 kb of ERF, introns included, not only the 2.7 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.). ERF gene: ETS2 repressor factor. Retrieved 16 October 2026, from https://dantelabs.com/genes/erf

Vancouver

Dante Labs. ERF gene: ETS2 repressor factor [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/erf

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test