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Gene

NOD2

nucleotide binding oligomerization domain containing 2

Summary

Cytogenetic location
16q12.1
Coordinates
Chromosome 16: 50,693,606–50,733,075 (GRCh38)
Exons
12 exons across 39.5 kb
Protein
1,013 amino acids
Also known as
BLAU, CD, PSORAS1, CLR16.3, NLRC2
Previous symbols
IBD1, CARD15
MANE Select transcript
ENST00000647318.2NM_001370466.1
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Autoimmune Disease

    • Blau SyndromeAutosomal dominant

      Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong

How NOD2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where NOD2 sits. NOD2 and 7 genes near it on chromosome 16, from 50,213,341 to 51,213,340.Chromosome 1616q12.1p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.350.4 Mb50.6 Mb50.8 Mb51 Mb51.2 MbTENT4B: 50,152,901–50,235,310, forward strandTENT4BADCY7: 50,244,699–50,318,607, forward strandADCY7BRD7: 50,313,487–50,369,059, reverse strandBRD7NKD1: 50,548,312–50,649,249, forward strandNKD1SNX20: 50,666,300–50,681,743, reverse strandSNX20NOD2: 50,693,606–50,733,075, forward strandNOD2CYLD: 50,742,032–50,801,935, forward strandCYLDSALL1: 51,135,841–51,152,683, reverse strandSALL1Diagram of NOD2: 12 exons on the forward strand of chromosome 16Exon 4: 15 known disease-causing sitesExon 1: 50,693,606–50,693,662, 57 basesExon 2: 50,699,488–50,699,954, 467 basesExon 3: 50,707,855–50,707,960, 106 basesExon 4: 50,710,558–50,712,373, 1,816 basesExon 5: 50,716,587–50,716,670, 84 basesExon 6: 50,716,891–50,716,974, 84 basesExon 7: 50,719,925–50,720,008, 84 basesExon 8: 50,722,622–50,722,705, 84 basesExon 9: 50,723,301–50,723,384, 84 basesExon 10: 50,725,489–50,725,572, 84 basesExon 11: 50,729,818–50,729,901, 84 basesExon 12: 50,731,747–50,733,075, 1,329 bases1246810125′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 39.5 kb; 3,042 of those bases code for the protein.

Sequencing NOD2

15

positions in NOD2 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 39.5 kb of NOD2, introns included, not only the 4.4 kb of exons.

Traits linked to NOD2

The Human Phenotype Ontology lists these as features of the rare conditions NOD2 can cause. Each trait's page lists the other genes linked to it.

External links

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 2026-10-17: 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 2026.10.17-8666dff2.

Cite this page

APA

Dante Labs. (n.d.). NOD2 gene: nucleotide binding oligomerization domain containing 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/nod2

Vancouver

Dante Labs. NOD2 gene: nucleotide binding oligomerization domain containing 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/nod2

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