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Gene

JAK2

Janus kinase 2

Summary

Cytogenetic location
9p24.1
Coordinates
Chromosome 9: 4,985,272–5,129,948 (GRCh38)
Exons
25 exons across 144.7 kb
Protein
1,132 amino acids
Also known as
JTK10
MANE Select transcript
ENST00000381652.4NM_004972.4
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

No Genome Test report reads JAK2 yet. The test sequences your whole genome, so your data includes it all the same.

How JAK2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 9, with a bracket where JAK2 sits. JAK2 and 13 genes near it on chromosome 9, from 4,557,610 to 5,557,609.Chromosome 99p24.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.34.6 Mb4.8 Mb5 Mb5.2 Mb5.4 MbSLC1A1: 4,490,207–4,587,469, forward strandSLC1A1SPATA6L: 4,553,386–4,666,674, reverse strandSPATA6LPLPP6: 4,662,294–4,665,258, forward strandPLPP6CDC37L1: 4,679,556–4,708,399, forward strandCDC37L1AK3: 4,709,395–4,742,043, reverse strandAK3RCL1: 4,792,881–4,928,572, forward strandRCL1JAK2: 4,985,272–5,129,948, forward strandJAK2INSL6: 4,991,978–5,185,668, reverse strandINSL6INSL4: 5,231,408–5,235,304, forward strandINSL4RLN2: 5,298,698–5,304,716, reverse strandRLN2RLN1: 5,334,930–5,339,876, reverse strandRLN1PLGRKT: 5,357,961–5,439,252, reverse strandPLGRKTCD274: 5,450,503–5,470,566, forward strandCD274PDCD1LG2: 5,485,745–5,571,282, forward strandPDCD1LG2Diagram of JAK2: 25 exons on the forward strand of chromosome 9Exon 13: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 21: 1 known disease-causing siteExon 24: 1 known disease-causing siteExon 1: 4,985,272–4,985,630, 359 basesExon 2: 4,985,940–4,986,022, 83 basesExon 3: 5,021,963–5,022,213, 251 basesExon 4: 5,029,783–5,029,906, 124 basesExon 5: 5,044,403–5,044,520, 118 basesExon 6: 5,050,686–5,050,831, 146 basesExon 7: 5,054,563–5,054,884, 322 basesExon 8: 5,055,669–5,055,788, 120 basesExon 9: 5,064,883–5,065,040, 158 basesExon 10: 5,066,678–5,066,789, 112 basesExon 11: 5,069,022–5,069,208, 187 basesExon 12: 5,069,925–5,070,052, 128 basesExon 13: 5,072,492–5,072,626, 135 basesExon 14: 5,073,698–5,073,785, 88 basesExon 15: 5,077,453–5,077,580, 128 basesExon 16: 5,078,306–5,078,444, 139 basesExon 17: 5,080,229–5,080,380, 152 basesExon 18: 5,080,533–5,080,683, 151 basesExon 19: 5,081,725–5,081,861, 137 basesExon 20: 5,089,674–5,089,863, 190 basesExon 21: 5,090,446–5,090,570, 125 basesExon 22: 5,090,739–5,090,911, 173 basesExon 23: 5,123,004–5,123,121, 118 basesExon 24: 5,126,333–5,126,446, 114 basesExon 25: 5,126,684–5,129,948, 3,265 bases15101520255′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 7 kb of the gene's 144.7 kb; 3,399 of those bases code for the protein.

How a genome test reads JAK2

4

positions in JAK2 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 144.7 kb of JAK2, introns included, not only the 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.
  • 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.). JAK2 gene: Janus kinase 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/jak2

Vancouver

Dante Labs. JAK2 gene: Janus kinase 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/jak2

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