Gene
CHEK2
checkpoint kinase 2
- HGNC 16627(opens in a new tab)
- Ensembl gene ENSG00000183765(opens in a new tab)
- NCBI Gene 11200(opens in a new tab)
Summary
- Cytogenetic location
- 22q12.1
- Coordinates
- Chromosome 22: 28,687,743–28,741,820 (GRCh38)
- Exons
- 15 exons across 54.1 kb
- Protein
- 543 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- CDS1, CHK2, HuCds1, PP1425, bA444G7
- Previous symbols
- RAD53
- MANE Select transcript
- ENST00000404276.6NM_007194.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Breast and Ovarian Cancer Genes Beyond BRCA1/2
- CHEK2-related cancer predispositionAutosomal dominant
Variants in CHEK2 that moderately raise the risk of breast cancer and possibly some other cancers.
- ClinGen rates the link definitive
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Enhanced breast screening, often including annual MRI, is generally recommended.
- Hereditary breast cancerAutosomal dominant
Inherited susceptibility to breast cancer caused by variants in one of several genes.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Earlier and more intensive breast screening, including MRI, may be recommended depending on the gene.
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.
How CHEK2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
- Variants with a page
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 1.8 kb of the gene's 54.1 kb; 1,632 of those bases code for the protein.
How a genome test reads CHEK2
731
positions in CHEK2 where ClinVar classes a change as pathogenic or likely pathogenic
212 of them (29%) fall in regions short reads find hard.
- Low mappability (187 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
- Segmental duplications (212 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
A whole genome covers all 54.1 kb of CHEK2, introns included, not only the 1.8 kb of exons.
Variants with a page (323)
The CHEK2 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A91Cfs*17 | c.269dup | Exon 2 | 28,734,452 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A98Pfs*12 | c.292del | Exon 2 | 28,734,429 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.98C>G | Exon 2 | 28,734,624 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.276del | Exon 2 | 28,734,445 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.278G>A | Exon 2 | 28,734,444 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.319+1G>A | Intron 2 | 28,734,402 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.319+1G>C | Intron 2 | 28,734,402 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.319+1G>T | Intron 2 | 28,734,402 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.319+2T>A | Intron 2 | 28,734,401 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.320-1G>T | Intron 2 | 28,725,368 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
Traits linked to CHEK2
The Human Phenotype Ontology lists these as features of the rare conditions CHEK2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Glioblastoma multiforme
- Anxiety
- Attention deficit
- Behavioral abnormality
- Depression
- Epilepsy
- Irritability
- Migraine
Show 22 more traits
- Rise in pressure inside skull
- Abnormal gait
- Abnormal pyramidal sign
- Abnormal speech pattern
- Astrocytoma
- Benign neoplasm of the central nervous system
- Cancer of early nerve cells
- Choroid plexus carcinoma
- Difficulty articulating speech
- Disorder of involuntary muscle movements
- Disturbed sensory perception
- Dysgraphia
- Ependymoma
- Hallucinations
- Loss of developmental milestones
- Memory impairment
- Paralysis or weakness of one side of body
- Pins and needles feeling
- Tumors of the central nervous system
- Medulloblastoma
- Glioma
- Noncancerous growth of membranes covering brain
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). CHEK2 gene: checkpoint kinase 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/chek2
Dante Labs. CHEK2 gene: checkpoint kinase 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/chek2
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