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Gene

NOTCH2

notch receptor 2

Summary

Cytogenetic location
1p12
Coordinates
Chromosome 1: 119,911,553–120,069,662 (GRCh38)
Exons
34 exons across 158.1 kb
Protein
2,471 amino acids
Inheritance
Autosomal dominant
MANE Select transcript
ENST00000256646.7NM_024408.4
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

  • Alagille Syndrome

    • Autosomal dominant

      Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.

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

      Maralixibat (Livmarli, FDA 2021) for cholestatic pruritus; ursodeoxycholic acid; fat-soluble vitamin supplementation; liver transplantation for progressive liver failure; cardiac surgery for complex heart defects

  • Hajdu-Cheney Syndrome

    • Hajdu-Cheney syndrome (acroosteolysis, dominant type)Autosomal dominant

      Progressive loss of the bones at the tips of the fingers and toes, osteoporosis, skull changes and sometimes kidney cysts, caused by truncating NOTCH2 variants.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate 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 NOTCH2 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 NOTCH2 sits. NOTCH2 and 8 genes near it on chromosome 1, from 119,490,608 to 120,490,607.Chromosome 11p12p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44119.6 Mb119.8 Mb120 Mb120.2 Mb120.4 MbHSD3B1: 119,493,057–119,529,426, forward strandHSD3B1ZNF697: 119,619,377–119,648,454, reverse strandZNF697PHGDH: 119,648,411–119,744,227, forward strandPHGDHHMGCS2: 119,747,979–119,769,092, reverse strandHMGCS2REG4: 119,794,017–119,811,580, reverse strandREG4ADAM30: 119,893,533–119,896,515, reverse strandADAM30NOTCH2: 119,911,553–120,069,662, reverse strandNOTCH2SEC22B: 120,150,898–120,176,533, reverse strandSEC22BNBPF8: 120,415,035–120,469,676, forward strandNBPF8Diagram of NOTCH2: 34 exons on the reverse strand of chromosome 1Exon 34: 28 known disease-causing sitesExon 33: 3 known disease-causing sitesExon 32: 2 known disease-causing sitesExon 31: 1 known disease-causing siteExon 30: 2 known disease-causing sitesExon 28: 3 known disease-causing sitesExon 26: 4 known disease-causing sitesExon 25: 2 known disease-causing sitesExon 21: 2 known disease-causing sitesExon 18: 1 known disease-causing siteExon 17: 2 known disease-causing sitesExon 16: 2 known disease-causing sitesExon 14: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 10: 2 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 8: 1 known disease-causing siteExon 7: 2 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 3: 1 known disease-causing siteExon 34: 119,911,553–119,916,694, 5,142 basesExon 33: 119,917,665–119,917,762, 98 basesExon 32: 119,918,406–119,918,553, 148 basesExon 31: 119,919,312–119,919,613, 302 basesExon 30: 119,920,229–119,920,397, 169 basesExon 29: 119,921,713–119,921,809, 97 basesExon 28: 119,922,236–119,922,446, 211 basesExon 27: 119,922,636–119,922,778, 143 basesExon 26: 119,923,637–119,923,984, 348 basesExon 25: 119,925,305–119,925,810, 506 basesExon 24: 119,926,499–119,926,611, 113 basesExon 23: 119,928,976–119,929,212, 237 basesExon 22: 119,935,472–119,935,604, 133 basesExon 21: 119,937,282–119,937,466, 185 basesExon 20: 119,937,857–119,938,010, 154 basesExon 19: 119,940,555–119,940,756, 202 basesExon 18: 119,941,526–119,941,754, 229 basesExon 17: 119,948,414–119,948,566, 153 basesExon 16: 119,949,007–119,949,126, 120 basesExon 15: 119,950,724–119,950,837, 114 basesExon 14: 119,953,543–119,953,688, 146 basesExon 13: 119,955,040–119,955,232, 193 basesExon 12: 119,959,392–119,959,502, 111 basesExon 11: 119,963,574–119,963,807, 234 basesExon 10: 119,965,453–119,965,566, 114 basesExon 9: 119,966,376–119,966,489, 114 basesExon 8: 119,967,433–119,967,621, 189 basesExon 7: 119,968,077–119,968,232, 156 basesExon 6: 119,969,511–119,969,744, 234 basesExon 5: 119,986,960–119,987,082, 123 basesExon 4: 119,996,997–119,997,332, 336 basesExon 3: 120,005,329–120,005,588, 260 basesExon 2: 120,029,906–120,029,987, 82 basesExon 1: 120,069,334–120,069,662, 329 bases343025201510515′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 11.4 kb of the gene's 158.1 kb; 7,416 of those bases code for the protein.

How a genome test reads NOTCH2

69

positions in NOTCH2 where ClinVar classes a change as pathogenic or likely pathogenic

2 of them (2.9%) fall in regions short reads find hard.

  • Low mappability (2 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (2 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 158.1 kb of NOTCH2, introns included, not only the 11.4 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.). NOTCH2 gene: notch receptor 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/notch2

Vancouver

Dante Labs. NOTCH2 gene: notch receptor 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/notch2

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