ATP7B gene: ATPase copper transporting beta

Curated reports relevant to this gene

Disorder of Copper Metabolism
- An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis.
  - ClinGen rates the link definitive
  - 4 GenCC submitters rate it definitive or strong
  - On the ACMG secondary findings list
Wilson Disease
- Autosomal recessive
  A very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.
  - ClinGen rates the link definitive
  - 4 GenCC submitters rate it definitive or strong
  - On the ACMG secondary findings list
  What knowing changes
  Copper chelation therapy, zinc acetate, dietary copper restriction, liver transplantation for fulminant hepatic failure

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 ATP7B 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 6.6 kb of the gene's 78.8 kb; 4,398 of those bases code for the protein.

How a genome test reads ATP7B

730

positions in ATP7B 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 78.8 kb of ATP7B, introns included, not only the 6.6 kb of exons.

Variants with a page (396)

The ATP7B 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
A32Sfs*9	c.92dup	Exon 2	51,975,127	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
A38Cfs*3	c.111dup	Exon 2	51,975,108	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
A98Cfs*65	c.291dup	Exon 2	51,974,928	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
A399Lfs*2	c.1195_1205del	Exon 2	51,974,014	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
A629Vfs*19	c.1886del	Exon 6	51,961,896	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
A803T	c.2407G>A	Exon 9	51,957,556	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
A1003V	c.3008C>T	Exon 13	51,946,336	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
A1063G	c.3188C>G	Exon 14	51,944,164	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
A1074T	c.3220G>A	Exon 14	51,944,132	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
A1135Qfs*13	c.3402del	Exon 15	51,942,395	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts

See all 396 ATP7B variants →

Traits linked to ATP7B

The Human Phenotype Ontology lists these as features of the rare conditions ATP7B can cause. Each trait's page lists the other genes linked to it.

Abnormality of the nervous system

Show 22 more traits

Laboratory abnormality

Show 10 more traits

Abnormality of the digestive system

Show 9 more traits

Abnormality of the musculoskeletal system

Show 2 more traits

Abnormality of blood and blood-forming tissues

Abnormality of limbs

Abnormality of the genitourinary system

Abnormality of head or neck

Growth abnormality

Abnormality of the eye

Constitutional symptom

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.). ATP7B gene: ATPase copper transporting beta. Retrieved 17 October 2026, from https://dantelabs.com/genes/atp7b

Vancouver

Dante Labs. ATP7B gene: ATPase copper transporting beta [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/atp7b