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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
01/12/2017
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Wilson disease Monarch
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)