Gene
CDK4
cyclin dependent kinase 4
- HGNC 1773↗(opens in a new tab)
- Ensembl gene ENSG00000135446↗(opens in a new tab)
- NCBI Gene 1019↗(opens in a new tab)
Summary
- Cytogenetic location
- 12q14.1
- Coordinates
- Chromosome 12: 57,747,727–57,752,310 (GRCh38)
- Exons
- 8 exons across 4.6 kb
- Protein
- 303 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- PSK-J3
- MANE Select transcript
- ENST00000257904.11NM_000075.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
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Melanoma
- Susceptibility to familial cutaneous melanomaAutosomal dominant
Inherited melanoma susceptibility caused by variants in genes such as CDKN2A, CDK4, MITF and POT1.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Regular full skin examinations, sun protection and, for CDKN2A carriers, consideration of pancreatic surveillance.
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 CDK4 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 1.9 kb of the gene's 4.6 kb; 912 of those bases code for the protein.
How a genome test reads CDK4
4
positions in CDK4 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 4.6 kb of CDK4, introns included, not only the 1.9 kb of exons.
Genes linked to the same conditions
Traits linked to CDK4
The Human Phenotype Ontology lists these as features of the rare conditions CDK4 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the integument
- Firm lump under the skin
- Mole
- Abnormality of the hair
- Dry skin
- Few cafe-au-lait spots
- Freckling
- Atypical mole
- Atypical nevi in non-sun exposed areas
Show 2 more traits
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.). CDK4 gene: cyclin dependent kinase 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/cdk4
Dante Labs. CDK4 gene: cyclin dependent kinase 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cdk4
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