Gene
CUL3
cullin 3
- HGNC 2553↗(opens in a new tab)
- Ensembl gene ENSG00000036257↗(opens in a new tab)
- NCBI Gene 8452↗(opens in a new tab)
Summary
- Cytogenetic location
- 2q36.2
- Coordinates
- Chromosome 2: 224,470,150–224,585,363 (GRCh38)
- Exons
- 16 exons across 115.2 kb
- Protein
- 768 amino acids
- Inheritance
- Autosomal dominant
- MANE Select transcript
- ENST00000264414.9NM_003590.5
- 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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Monogenic Hypertension & Mineralocorticoid Disorders
- Pseudohypoaldosteronism Type 2 (Gordon Syndrome)Autosomal dominant
A condition caused by changes in WNK1, WNK4, KLHL3 or CUL3 that causes high blood pressure with high potassium and acid build-up in the blood.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Knowing about it points to thiazide diuretics, which usually correct both the blood pressure and the potassium.
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 CUL3 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 6.8 kb of the gene's 115.2 kb; 2,307 of those bases code for the protein.
How a genome test reads CUL3
54
positions in CUL3 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 115.2 kb of CUL3, introns included, not only the 6.8 kb of exons.
Genes linked to the same conditions
Traits linked to CUL3
The Human Phenotype Ontology lists these as features of the rare conditions CUL3 can cause. Each trait's page lists the other genes linked to it.
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.). CUL3 gene: cullin 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/cul3
Dante Labs. CUL3 gene: cullin 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cul3
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