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Gene

NOTCH3

notch receptor 3

Summary

Cytogenetic location
19p13.12
Coordinates
Chromosome 19: 15,159,038–15,200,995 (GRCh38)
Exons
33 exons across 42 kb
Protein
2,321 amino acids
Also known as
CASIL
Previous symbols
CADASIL
MANE Select transcript
ENST00000263388.7NM_000435.3
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

  • Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

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

      CADASIL: aggressive BP control, avoid anticoagulation/thrombolysis, migraine prophylaxis (avoid triptans), cognitive rehabilitation; Fabry: ERT (agalsidase), migalastat; COL4A1: BP control, avoid contact sports; genetic counseling

How NOTCH3 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 NOTCH3 sits. NOTCH3 and 25 genes near it on chromosome 19, from 14,680,017 to 15,680,016.Chromosome 1919p13.12p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4314.8 Mb15 Mb15.2 Mb15.4 Mb15.6 MbADGRE3: 14,599,080–14,690,027, reverse strandADGRE3ZNF333: 14,689,801–14,733,746, forward strandZNF333ADGRE2: 14,731,152–14,778,560, reverse strandADGRE2OR7C1: 14,789,260–14,835,376, reverse strandOR7C1OR7A5: 14,826,241–14,835,285, reverse strandOR7A5OR7A10: 14,840,466–14,848,922, reverse strandOR7A10OR7A17: 14,878,203–14,886,132, reverse strandOR7A17OR7C2: 14,941,489–14,942,448, forward strandOR7C2SLC1A6: 14,950,024–15,022,990, reverse strandSLC1A6TEKTL1: 15,010,726–15,023,276, forward strandTEKTL1CASP14: 15,049,480–15,058,293, forward strandCASP14OR1I1: 15,082,211–15,092,970, forward strandOR1I1SYDE1: 15,107,296–15,114,988, forward strandSYDE1HACL2: 15,114,974–15,125,801, reverse strandHACL2NOTCH3: 15,159,038–15,200,995, reverse strandNOTCH3EPHX3: 15,226,899–15,233,591, reverse strandEPHX3BRD4: 15,235,519–15,332,547, reverse strandBRD4AKAP8: 15,353,385–15,379,862, reverse strandAKAP8AKAP8L: 15,380,046–15,419,141, reverse strandAKAP8LWIZ: 15,419,978–15,450,038, reverse strandWIZRASAL3: 15,451,624–15,464,583, reverse strandRASAL3PGLYRP2: 15,468,625–15,498,956, reverse strandPGLYRP2CYP4F22: 15,508,477–15,552,317, forward strandCYP4F22CYP4F8: 15,615,218–15,630,639, forward strandCYP4F8CYP4F3: 15,640,795–15,662,825, forward strandCYP4F3CYP4F12: 15,673,018–15,698,819, forward strandCYP4F12Diagram of NOTCH3: 33 exons on the reverse strand of chromosome 19Exon 33: 9 known disease-causing sitesExon 25: 1 known disease-causing siteExon 24: 2 known disease-causing sitesExon 23: 1 known disease-causing siteExon 20: 5 known disease-causing sitesExon 19: 3 known disease-causing sitesExon 18: 6 known disease-causing sitesExon 17: 1 known disease-causing siteExon 15: 2 known disease-causing sitesExon 14: 2 known disease-causing sitesExon 13: 2 known disease-causing sitesExon 12: 2 known disease-causing sitesExon 11: 13 known disease-causing sitesExon 10: 5 known disease-causing sitesExon 9: 3 known disease-causing sitesExon 8: 8 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 6: 6 known disease-causing sitesExon 5: 5 known disease-causing sitesExon 4: 27 known disease-causing sitesExon 3: 9 known disease-causing sitesExon 2: 8 known disease-causing sitesExon 1: 2 known disease-causing sitesExon 33: 15,159,038–15,161,714, 2,677 basesExon 32: 15,162,465–15,162,562, 98 basesExon 31: 15,165,368–15,165,515, 148 basesExon 30: 15,165,787–15,166,091, 305 basesExon 29: 15,167,249–15,167,411, 163 basesExon 28: 15,170,086–15,170,170, 85 basesExon 27: 15,170,331–15,170,553, 223 basesExon 26: 15,170,671–15,170,825, 155 basesExon 25: 15,174,068–15,174,400, 333 basesExon 24: 15,177,525–15,178,090, 566 basesExon 23: 15,178,823–15,178,941, 119 basesExon 22: 15,179,025–15,179,282, 258 basesExon 21: 15,179,364–15,179,496, 133 basesExon 20: 15,180,072–15,180,256, 185 basesExon 19: 15,180,681–15,180,828, 148 basesExon 18: 15,180,961–15,181,162, 202 basesExon 17: 15,181,576–15,181,801, 226 basesExon 16: 15,184,295–15,184,450, 156 basesExon 15: 15,184,906–15,185,019, 114 basesExon 14: 15,185,257–15,185,408, 152 basesExon 13: 15,185,487–15,185,679, 193 basesExon 12: 15,186,878–15,186,988, 111 basesExon 11: 15,187,105–15,187,338, 234 basesExon 10: 15,187,881–15,187,994, 114 basesExon 9: 15,188,235–15,188,348, 114 basesExon 8: 15,188,989–15,189,174, 186 basesExon 7: 15,189,273–15,189,428, 156 basesExon 6: 15,191,424–15,191,657, 234 basesExon 5: 15,191,745–15,191,867, 123 basesExon 4: 15,191,960–15,192,298, 339 basesExon 3: 15,192,377–15,192,519, 143 basesExon 2: 15,197,500–15,197,578, 79 basesExon 1: 15,200,788–15,200,995, 208 bases333025201510515′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 8.7 kb of the gene's 42 kb; 6,966 of those bases code for the protein.

How a genome test reads NOTCH3

127

positions in NOTCH3 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 42 kb of NOTCH3, introns included, not only the 8.7 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.). NOTCH3 gene: notch receptor 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/notch3

Vancouver

Dante Labs. NOTCH3 gene: notch receptor 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/notch3

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