Gene

CP

ceruloplasmin

Cytogenetic location: 3q24-q25.1
Coordinates: Chromosome 3: 149,172,497–149,221,829 (GRCh38)
Exons: 19 exons across 49.3 kb
Protein: 1,065 amino acids
Inheritance: Autosomal recessive
Also known as: AB073614
MANE Select transcript: ENST00000264613.11NM_000096.4
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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Curated reports relevant to this gene

Inherited Iron Metabolism Disorders
- AceruloplasminaemiaAutosomal recessive
  Caused by changes in CP, iron gradually builds up in the brain, pancreas, liver and retina in adulthood, leading to mild anaemia, diabetes, retinal changes and movement or memory problems.
  - ClinGen rates the link definitive
  - 4 GenCC submitters rate it definitive or strong
  What knowing changes
  Starting iron chelation early may prevent or slow damage to the brain and other organs.
Neurodegeneration with Brain Iron Accumulation (NBIA)
- Neurodegeneration with Brain Iron Accumulation
  A group of disorders including PKAN (PANK2), PLAN (PLA2G6), MPAN (C19orf12), BPAN (WDR45), neuroferritinopathy (FTL) and aceruloplasminemia (CP), with mostly recessive inheritance.
  - ClinGen rates the link definitive
  - 4 GenCC submitters rate it definitive or strong
  What knowing changes
  Symptom treatment for dystonia and parkinsonism, iron chelation for aceruloplasminemia, and carrier testing for relatives in recessive forms.

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 CP 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 4.5 kb of the gene's 49.3 kb; 3,198 of those bases code for the protein.

How a genome test reads CP

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

5 of them (8.6%) fall in regions short reads find hard.

Low mappability (5 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

A whole genome covers all 49.3 kb of CP, introns included, not only the 4.5 kb of exons.

Traits linked to CP

The Human Phenotype Ontology lists these as features of the rare conditions CP can cause. Each trait's page lists the other genes linked to it.

Abnormality of the nervous system

Show 14 more traits

Laboratory abnormality

Abnormality of the eye

Abnormality of blood and blood-forming tissues

Abnormality of head or neck

Abnormality of the digestive system

Abnormality of the musculoskeletal system

Abnormality of the cardiovascular system

Cardiac failure

External links

Gene records

Transcript

Protein

Variants

Clinical

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.). CP gene: ceruloplasmin. Retrieved 17 October 2026, from https://dantelabs.com/genes/cp

Vancouver

Dante Labs. CP gene: ceruloplasmin [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cp

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