ATP7B
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ATP7B (HGNC:870) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ATPase copper transporting beta
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
WND
Alias symbols
No aliases found
%HI
64.5(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.06(Read more about gnomAD LOEUF score)
Cytoband
13q14.3
Genomic Coordinates
GRCh37/hg19: chr13:52506805-52585586 NCBI Ensembl UCSC
GRCh38/hg38: chr13:51932669-52012132 NCBI Ensembl UCSC
MANE Select Transcript
NM_000053.4 ENST00000242839.10 (Read more about MANE Select)
Function
Copper ion transmembrane transporter involved in the export of copper out of the cells. It is involved in copper homeostasis in the liver, where it ensures the efflux of copper from hepatocytes into the bile in response to copper overload. {ECO:0000269|PubMed:18203200, ECO:0000269|PubMed:22240481, ECO:0000269|PubMed:24706876, ECO:0000269|PubMed:26004889}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-10911
ClinGen Curation ID:
CCID:006718
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
01/12/2017

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Mameli et al (2015, PMID: 26031236) describe a homozygous 3 kb deletion of exons 1 and 2 in a patient with Wilson's disease. Incollu et al (2011, PMID: 21925265) describe a patient with a homozygous 8.7 kb deletion of exons 2-4.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000013.10) (NC_000013.11)