ATP7B (ATPase copper transporting beta)

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Gene: ATP7B (ATPase copper transporting beta) Homo sapiens

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Symbol:

ATP7B

Name:

ATPase copper transporting beta

RGD ID:

731392

HGNC Page

HGNC:870

Description:

Enables ATP binding activity; P-type divalent copper transporter activity; and copper ion binding activity. Involved in copper ion import; response to copper ion; and sequestering of calcium ion. Located in late endosome and trans-Golgi network membrane. Colocalizes with several cellular components, including basolateral plasma membrane; perinuclear region of cytoplasm; and trans-Golgi network. Implicated in Wilson disease. Biomarker of breast carcinoma.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

ATPase, Cu(2+)- transporting, beta polypeptide; ATPase, Cu++ transporting, beta polypeptide; copper pump 2; copper-transporting ATPase 2; copper-transporting protein ATP7B; PWD; WC1; WD; Wilson disease-associated protein; WND

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

Related Pseudogenes:

ATP7BP1

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	13	51,932,669 - 52,012,132 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	13	51,930,436 - 52,012,125 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	13	52,506,805 - 52,585,586 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	13	51,404,806 - 51,483,631 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	13	51,404,805 - 51,483,631	NCBI
Celera	13	33,555,444 - 33,634,269 (-)	NCBI		Celera
Cytogenetic Map	13	q14.3	NCBI
HuRef	13	33,295,317 - 33,374,147 (-)	NCBI		HuRef
CHM1_1	13	52,473,433 - 52,553,190 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	13	51,147,339 - 51,226,266 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

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Model

Annotation Click to see Annotation Detail View

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - ClinVar