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Gene

AK2

adenylate kinase 2

Summary

Cytogenetic location
1p35.1
Coordinates
Chromosome 1: 33,007,986–33,036,883 (GRCh38)
Exons
6 exons across 28.9 kb
Protein
239 amino acids
Inheritance
Autosomal recessive
MANE Select transcript
ENST00000672715.1NM_001625.4
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

  • Severe Combined Immunodeficiency

    • Autosomal recessive

      Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.

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

Broader groupings

  • Other Inborn Errors of Immunity

    • Immunodeficiency Disease

      One of 170 genes linked to it

      Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

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

      HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

Inheritance

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 AK2 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 AK2 sits. AK2 and 19 genes near it on chromosome 1, from 32,522,435 to 33,522,434.Chromosome 11p35.1p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4432.6 Mb32.8 Mb33 Mb33.2 Mb33.4 Mb: 32,465,057–32,600,792, forward strandZBTB8A: 32,539,134–32,605,941, forward strandZBTB8ATSLIG1: 32,599,890–32,651,011, reverse strandTSLIG1RBBP4: 32,651,043–32,705,899, forward strandRBBP4SYNC: 32,679,412–32,703,596, reverse strandSYNCNHSL3: 32,741,696–32,774,970, forward strandNHSL3YARS1: 32,774,776–32,818,031, reverse strandYARS1S100PBP: 32,816,408–32,858,879, forward strandS100PBPFNDC5: 32,862,268–32,872,482, reverse strandFNDC5HPCA: 32,881,498–32,898,441, forward strandHPCATMEM54: 32,894,593–32,901,440, reverse strandTMEM54RNF19B: 32,929,036–32,964,938, reverse strandRNF19BAK2: 33,007,986–33,036,883, reverse strandAK2AZIN2: 33,081,104–33,123,492, forward strandAZIN2TRIM62: 33,145,399–33,182,092, reverse strandTRIM62ZNF362: 33,256,273–33,300,719, forward strandZNF362A3GALT2: 33,306,766–33,321,098, reverse strandA3GALT2PHC2: 33,321,755–33,431,095, reverse strandPHC2ZSCAN20: 33,472,467–33,501,643, forward strandZSCAN20CSMD2: 33,513,998–34,165,842, reverse strandCSMD2Diagram of AK2: 6 exons on the reverse strand of chromosome 1Exon 6: 9 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 3 known disease-causing sitesExon 3: 1 known disease-causing siteExon 1: 4 known disease-causing sitesExon 6: 33,007,986–33,013,402, 5,417 basesExon 5: 33,014,522–33,014,594, 73 basesExon 4: 33,021,367–33,021,461, 95 basesExon 3: 33,021,593–33,021,703, 111 basesExon 2: 33,024,442–33,024,567, 126 basesExon 1: 33,036,736–33,036,883, 148 bases64215′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 kb of the gene's 28.9 kb; 720 of those bases code for the protein.

How a genome test reads AK2

23

positions in AK2 where ClinVar classes a change as pathogenic or likely pathogenic

2 of them (8.7%) fall in regions short reads find hard.

  • Low mappability (2 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

A whole genome covers all 28.9 kb of AK2, introns included, not only the 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.). AK2 gene: adenylate kinase 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/ak2

Vancouver

Dante Labs. AK2 gene: adenylate kinase 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ak2

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