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Gene

ADAR

adenosine deaminase RNA specific

Summary

Cytogenetic location
1q21.3
Coordinates
Chromosome 1: 154,582,057–154,608,186 (GRCh38)
Exons
15 exons across 26.1 kb
Protein
1,226 amino acids
Inheritance
Autosomal dominant Autosomal recessive
Also known as
ADAR1, DRADA
Previous symbols
IFI4, G1P1
MANE Select transcript
ENST00000368474.9NM_001111.5
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

  • Aicardi-Goutieres Syndrome

    • ADAR-related type 1 interferonopathy

      ADAR variants causing Aicardi-Goutieres syndrome or bilateral striatal necrosis.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
    • Autosomal recessive

      Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterized by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.

      • 4 GenCC submitters rate it definitive or strong

  • Dyschromatosis Symmetrica Hereditaria

    • Autosomal dominant

      Mottled hyper- and hypopigmented macules on the backs of the hands and feet appearing in childhood, caused by heterozygous ADAR variants; most common in people of East Asian ancestry.

      • 4 GenCC submitters rate it definitive or strong

  • 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.

      • 4 GenCC submitters rate it definitive or strong

Broader groupings

  • Other Inborn Errors of Immunity

    • Inborn error of immunity

      One of 114 genes linked to it

      Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.

      • 4 GenCC submitters rate it definitive or strong

  • Other Inherited Leukodystrophies

    • Leukodystrophy (other and unspecified types)

      One of 80 genes linked to it

      Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.

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 ADAR 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 ADAR sits. ADAR and 28 genes near it on chromosome 1, from 154,095,122 to 155,095,121.Chromosome 11q21.3p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44154.2 Mb154.4 Mb154.6 Mb154.8 Mb155 MbNUP210L: 153,992,690–154,155,116, reverse strandNUP210LTPM3: 154,155,308–154,194,648, reverse strandTPM3CFAP141: 154,199,085–154,206,352, reverse strandCFAP141LTAP1: 154,206,666–154,220,686, reverse strandLTAP1UBAP2L: 154,220,172–154,271,510, forward strandUBAP2LHAX1: 154,272,326–154,275,882, forward strandHAX1AQP10: 154,321,090–154,325,329, forward strandAQP10ATP8B2: 154,325,511–154,351,307, forward strandATP8B2IL6R: 154,405,141–154,469,450, forward strandIL6RSHE: 154,469,637–154,502,866, reverse strandSHETDRD10: 154,501,508–154,548,147, forward strandTDRD10UBE2Q1: 154,548,550–154,559,028, reverse strandUBE2Q1CHRNB2: 154,567,771–154,580,013, forward strandCHRNB2ADAR: 154,582,057–154,608,186, reverse strandADARKCNN3: 154,697,455–154,870,340, reverse strandKCNN3PMVK: 154,924,732–154,937,008, reverse strandPMVKPBXIP1: 154,944,059–154,956,451, reverse strandPBXIP1PYGO2: 154,957,025–154,963,853, reverse strandPYGO2SHC1: 154,962,284–154,974,452, reverse strandSHC1CKS1B: 154,974,641–154,979,256, forward strandFLAD1: 154,983,311–154,993,111, forward strandLENEP: 154,993,586–154,994,315, forward strandZBTB7B: 155,002,543–155,018,525, forward strandDCST2: 155,018,520–155,033,781, reverse strandDCST2DCST1: 155,033,824–155,050,930, forward strandDCST1ADAM15: 155,050,566–155,062,780, forward strandADAM15EFNA4: 155,063,718–155,069,553, forward strandEFNA4EFNA4-EFNA3: 155,063,748–155,086,807, forward strandEFNA3: 155,078,823–155,087,538, forward strandEFNA3Diagram of ADAR: 15 exons on the reverse strand of chromosome 1Exon 15: 1 known disease-causing siteExon 14: 3 known disease-causing sitesExon 13: 5 known disease-causing sitesExon 12: 5 known disease-causing sitesExon 11: 4 known disease-causing sitesExon 8: 4 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 6: 4 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 2: 30 known disease-causing sitesExon 15: 154,582,057–154,585,043, 2,987 basesExon 14: 154,585,217–154,585,344, 128 basesExon 13: 154,585,753–154,585,865, 113 basesExon 12: 154,586,181–154,586,363, 183 basesExon 11: 154,588,125–154,588,258, 134 basesExon 10: 154,588,551–154,588,673, 123 basesExon 9: 154,589,369–154,589,462, 94 basesExon 8: 154,589,757–154,589,928, 172 basesExon 7: 154,590,184–154,590,409, 226 basesExon 6: 154,596,805–154,596,995, 191 basesExon 5: 154,597,123–154,597,267, 145 basesExon 4: 154,597,828–154,597,976, 149 basesExon 3: 154,598,402–154,598,585, 184 basesExon 2: 154,601,041–154,602,626, 1,586 basesExon 1: 154,607,992–154,608,186, 195 bases15141210864215′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 6.6 kb of the gene's 26.1 kb; 3,681 of those bases code for the protein.

How a genome test reads ADAR

74

positions in ADAR 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 26.1 kb of ADAR, introns included, not only the 6.6 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.). ADAR gene: adenosine deaminase RNA specific. Retrieved 16 October 2026, from https://dantelabs.com/genes/adar

Vancouver

Dante Labs. ADAR gene: adenosine deaminase RNA specific [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/adar

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