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Gene

ADA2

adenosine deaminase 2

Summary

Cytogenetic location
22q11.1
Coordinates
Chromosome 22: 17,178,790–17,219,435 (GRCh38)
Exons
10 exons across 40.6 kb
Protein
511 amino acids
Inheritance
Autosomal dominant Autosomal recessive
Also known as
ADGF
Previous symbols
IDGFL, CECR1
MANE Select transcript
ENST00000399837.8NM_001282225.2
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

  • Deficiency of Adenosine Deaminase 2 (DADA2)

    • Deficiency of adenosine deaminase 2Autosomal recessive

      Loss of the ADA2 enzyme causes blood vessel inflammation, which can lead to strokes, skin rashes, and problems with the blood and immune system.

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

      Anti-TNF treatment greatly reduces the risk of strokes, and a stem cell transplant can treat the blood and immune problems.

  • Rare Monogenic Autoinflammatory Diseases

    • PTPN2-related autoinflammation and autoimmunityAutosomal dominant

      Early-onset inflammatory and autoimmune disease, including colitis and arthritis, caused by variants in PTPN2.

      • 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.
Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How ADA2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 22, with a bracket where ADA2 sits. ADA2 and 9 genes near it on chromosome 22, from 16,699,113 to 17,699,112.Chromosome 2222q11.1p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3316.8 Mb17 Mb17.2 Mb17.4 Mb17.6 MbXKR3: 16,783,412–16,851,222, reverse strandXKR3GAB4: 16,961,936–17,008,222, reverse strandGAB4IL17RA: 17,084,934–17,115,693, forward strandIL17RATMEM121B: 17,116,297–17,121,367, reverse strandTMEM121BHDHD5: 17,132,107–17,165,287, reverse strandHDHD5ADA2: 17,178,790–17,219,435, reverse strandADA2CECR2: 17,359,949–17,558,151, forward strandCECR2SLC25A18: 17,562,670–17,591,927, forward strandSLC25A18ATP6V1E1: 17,592,136–17,630,958, reverse strandATP6V1E1BCL2L13: 17,628,848–17,730,855, forward strandBCL2L13Diagram of ADA2: 10 exons on the reverse strand of chromosome 22Exon 10: 3 known disease-causing sitesExon 9: 9 known disease-causing sitesExon 8: 7 known disease-causing sitesExon 7: 6 known disease-causing sitesExon 6: 4 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 4: 9 known disease-causing sitesExon 3: 7 known disease-causing sitesExon 2: 13 known disease-causing sitesExon 10: 17,178,790–17,181,576, 2,787 basesExon 9: 17,181,820–17,182,022, 203 basesExon 8: 17,182,604–17,182,761, 158 basesExon 7: 17,188,339–17,188,447, 109 basesExon 6: 17,189,942–17,190,032, 91 basesExon 5: 17,191,683–17,191,810, 128 basesExon 4: 17,203,563–17,203,773, 211 basesExon 3: 17,207,071–17,207,290, 220 basesExon 2: 17,209,356–17,209,723, 368 basesExon 1: 17,219,356–17,219,435, 80 bases109876543215′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 40.6 kb; 1,536 of those bases code for the protein.

How a genome test reads ADA2

77

positions in ADA2 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 40.6 kb of ADA2, introns included, not only the 4.4 kb of exons.

Genes linked to the same conditions

Traits linked to ADA2

The Human Phenotype Ontology lists these as features of the rare conditions ADA2 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 2026-10-16: 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.). ADA2 gene: adenosine deaminase 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/ada2

Vancouver

Dante Labs. ADA2 gene: adenosine deaminase 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ada2

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