2. Gene
  3. ATP7B - ATPase copper transporting beta Gene

ATP7B - ATPase copper transporting beta Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as WD; PWD; WC1; WND

Gene ID: 540 | Gene type: protein coding

About ATP7B

Cytogenetic location: 13q14.3 Genomic coordinates (GRCh38): 13:51,932,669-52,012,132 (from NCBI)

This gene has 26 transcripts (splice variants), 221 orthologues, 21 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 5.6), duodenum (RPKM 4.2) and 22 other tissues.

Summary

This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein is a monomer, and functions as a copper-transporting ATPase which exports copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease which is characterized by copper accumulation. [provided by RefSeq, Dec 2019]

ATP7B Products(41)

mRNA Protein Name
NM_000053.4 NP_000044.2 copper-transporting ATPase 2 isoform a
NM_001005918.3 NP_001005918.1 copper-transporting ATPase 2 isoform b
NM_001243182.2 NP_001230111.1 copper-transporting ATPase 2 isoform c
NM_001330578.2 NP_001317507.1 copper-transporting ATPase 2 isoform d
NM_001330579.2 NP_001317508.1 copper-transporting ATPase 2 isoform e
NM_001406511.1 NP_001393440.1 copper-transporting ATPase 2 isoform a
NM_001406512.1 NP_001393441.1 copper-transporting ATPase 2 isoform a
NM_001406513.1 NP_001393442.1 copper-transporting ATPase 2 isoform f
NM_001406514.1 NP_001393443.1 copper-transporting ATPase 2 isoform g
NM_001406515.1 NP_001393444.1 copper-transporting ATPase 2 isoform h
NM_001406516.1 NP_001393445.1 copper-transporting ATPase 2 isoform h
NM_001406517.1 NP_001393446.1 copper-transporting ATPase 2 isoform i
NM_001406518.1 NP_001393447.1 copper-transporting ATPase 2 isoform i
NM_001406519.1 NP_001393448.1 copper-transporting ATPase 2 isoform j
NM_001406520.1 NP_001393449.1 copper-transporting ATPase 2 isoform k
NM_001406521.1 NP_001393450.1 copper-transporting ATPase 2 isoform k
NM_001406522.1 NP_001393451.1 copper-transporting ATPase 2 isoform k
NM_001406523.1 NP_001393452.1 copper-transporting ATPase 2 isoform m
NM_001406524.1 NP_001393453.1 copper-transporting ATPase 2 isoform l
NM_001406525.1 NP_001393454.1 copper-transporting ATPase 2 isoform n
NM_001406526.1 NP_001393455.1 copper-transporting ATPase 2 isoform o
NM_001406527.1 NP_001393456.1 copper-transporting ATPase 2 isoform d
NM_001406528.1 NP_001393457.1 copper-transporting ATPase 2 isoform d
NM_001406530.1 NP_001393459.1 copper-transporting ATPase 2 isoform p
NM_001406531.1 NP_001393460.1 copper-transporting ATPase 2 isoform e
NM_001406532.1 NP_001393461.1 copper-transporting ATPase 2 isoform e
NM_001406534.1 NP_001393463.1 copper-transporting ATPase 2 isoform q
NM_001406535.1 NP_001393464.1 copper-transporting ATPase 2 isoform r
NM_001406536.1 NP_001393465.1 copper-transporting ATPase 2 isoform s
NM_001406537.1 NP_001393466.1 copper-transporting ATPase 2 isoform t
NM_001406538.1 NP_001393467.1 copper-transporting ATPase 2 isoform u
NM_001406539.1 NP_001393468.1 copper-transporting ATPase 2 isoform v
NM_001406540.1 NP_001393469.1 copper-transporting ATPase 2 isoform w
NM_001406541.1 NP_001393470.1 copper-transporting ATPase 2 isoform x
NM_001406542.1 NP_001393471.1 copper-transporting ATPase 2 isoform x
NM_001406543.1 NP_001393472.1 copper-transporting ATPase 2 isoform y
NM_001406544.1 NP_001393473.1 copper-transporting ATPase 2 isoform z
NM_001406545.1 NP_001393474.1 copper-transporting ATPase 2 isoform aa
NM_001406546.1 NP_001393475.1 copper-transporting ATPase 2 isoform bb
NM_001406547.1 NP_001393476.1 copper-transporting ATPase 2 isoform cc
NM_001406548.1 NP_001393477.1 copper-transporting ATPase 2 isoform dd
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables ATP binding IDA
IDA: Inferred from direct assay
15205462 GOA
enables P-type divalent copper transporter activity IMP
IMP: Inferred from mutant phenotype
9837819 GOA
enables copper ion binding IDA
IDA: Inferred from direct assay
12029094 GOA
enables copper ion transmembrane transporter activity IDA
IDA: Inferred from direct assay
26004889 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12968035 GOA
Biological Process GO Annotation Evidence Reference Source
involved in copper ion import IDA
IDA: Inferred from direct assay
16472602 GOA
involved in copper ion transport IDA
IDA: Inferred from direct assay
26004889 GOA
involved in copper ion transport IGI
IGI: Inferred from genetic interaction
12572677 GOA
involved in copper ion transport IMP
IMP: Inferred from mutant phenotype
9837819 GOA
involved in response to copper ion IDA
IDA: Inferred from direct assay
15269005 GOA
involved in sequestering of calcium ion IDA
IDA: Inferred from direct assay
16472602 GOA
Cellular Component GO Annotation Evidence Reference Source
colocalizes with basolateral plasma membrane IDA
IDA: Inferred from direct assay
15269005 GOA
colocalizes with cytoplasmic vesicle IDA
IDA: Inferred from direct assay
16472602 GOA
located in late endosome IDA
IDA: Inferred from direct assay
15681833 GOA
colocalizes with perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
16939419 GOA
colocalizes with trans-Golgi network IDA
IDA: Inferred from direct assay
15269005 GOA
located in trans-Golgi network membrane IDA
IDA: Inferred from direct assay
9837819 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATP7B Protein Structure

HMA

HMA: Heavy-metal-associated domain (61 - 106)

HMA

HMA: Heavy-metal-associated domain (147 - 206)

HMA

HMA: Heavy-metal-associated domain (261 - 317)

HMA

HMA: Heavy-metal-associated domain (364 - 423)

HMA

HMA: Heavy-metal-associated domain (492 - 550)

HMA

HMA: Heavy-metal-associated domain (568 - 628)

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (769 - 1016)

Hydrolase

Hydrolase: haloacid dehalogenase-like hydrolase (1021 - 1279)

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  • 1465 a.a.
Protein Preferred Names Protein Names

copper-transporting ATPase 2

ATPase, Cu(2+)- transporting, beta polypeptide

Related Diseases

Diseases Alias
Wilson Disease

Hepatolenticular Degeneration

WD

Wilson'S Disease

WND

Westphal-Strumpell Syndrome

Copper Storage Disease

Cerebral Pseudosclerosis

Westphal Pseudosclerosis

Hepatolenticular Degeneration Syndrome

Copper Retention

Hepatocerebral Degeneration

Kinnier-Wilson Disease

Neurohepatic Degeneration

Progressive Hepatolenticular Degeneration

Lenticular Degenerative Disease

Wilson'S Syndrome

Lenticular Syndrome
Wolff Mental Retardation Syndrome

Intellectual Disability, Wolff Type

Wolff-Zimmermann Syndrome

Mental Retardation Wolff Type
Spastic Ataxia

Spax

Ataxia, Spastic
Menkes Disease

Copper Transport Disease

Menkes Syndrome

MNK

Kinky Hair Disease

Steely Hair Disease

Menkes Kinky-Hair Syndrome

Mk

Steely Hair Syndrome

Menkea Syndrome

Md

Menkes Kinky Hair Syndrome

Hypocupremia, Congenital

Kinky Hair Syndrome

X-Linked Copper Deficiency

Menkes Kinky Hair Disease
Metal Metabolism Disorder

Metal Metabolism, Inborn Errors

Inborn Metal Metabolism Disorder
Disorder Of Copper Metabolism
Spinal Muscular Atrophy, Distal, X-Linked 3

SMAX3

Dsmax

X-Linked Distal Spinal Muscular Atrophy Type 3

X-Linked Distal Spinal Muscular Atrophy 3

Atp7a-Related Distal Motor Neuropathy

X-Linked Dhmn3

X-Linked Distal Hereditary Motor Neuropathy Type 3

X-Linked Dsma3

Spinal Muscular Atrophy, Distal, X-Linked Recessive

X-Linked Recessive Distal Spinal Muscular Atrophy

Distal Spinal Muscular Atrophy, X-Linked, 3

DSMAX3

Spinal Muscular Atrophy Distal X-Linked Recessive

Atrophy, Muscular, Spinal, Distal, X-Linked, Type 3
Occipital Horn Syndrome

OHS

Eds Ix

Cutis Laxa X-Linked

Cutis Laxa, X-Linked

Cutis Laxa, X-Linked, Formerly

Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly

Eds Ix, Formerly

Eds9, Formerly

Ehlers-Danlos Syndrome Type 9

Ehlers-Danlos Syndrome Type Ix

X-Linked Cutis Laxa

Ehlers-Danlos Syndrome, Occipital Horn Type

Eds9

Ehlers-Danlos Syndrome Occipital Horn Type
Copper Deficiency Myelopathy

Swayback

Human Swayback
Hemochromatosis, Type 1

Hemochromatosis

Hemochromatosis Type 1

Hereditary Hemochromatosis

Hh

HFE1

Hfe Hemochromatosis, Modifier Of

Symptomatic Form Of Classic Hemochromatosis

Symptomatic Form Of Hemochromatosis Type 1

Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

Haemochromatosis

Iron Storage Disorder

Bronze Diabetes

Hereditary Haemochromatosis

Hlah

Hfe

Hemochromatosis, Hereditary

Diabetes Bronze

Classic Hemochromatosis

Hfe-Associated Hereditary Hemochromatosis

Hemochromatosis Classic

Bronzed Cirrhosis

Familial Hemochromatosis

Genetic Hemochromatosis

Hc

Pigmentary Cirrhosis

Primary Hemochromatosis

Troisier-Hanot-Chauffard Syndrome

Von Recklenhausen-Applebaum Disease

Hemochromatosis 1

Primary Hereditary Hemochromatosis

Bronze Cirrhosis
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma

Mednik Syndrome

Erythrokeratodermia Variabilis 3

MEDNIK

Ekv3

Erythrokeratodermia Variabilis, Kamouraska Type

Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia

Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome

Intellectual Disability-Enteropathy-Hearing Loss-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome

Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma

Erythrokeratodermia Variabilis Kamouraska Type

Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma
Liver Disease

Liver Failure

Liver Diseases

Abnormality Of The Liver

Liver Dysfunction

Disorder Of Liver

Hepatic Disorder

Hepatic Disease

Disease Of Bilirubin Metabolism

Disorder Of Bilirubin Metabolism

Liver Decompensation

Liver Function Failure

Hepatic Failure Nos

Liver Failure Nos

End Stage Liver Disease

Decompensated Liver Failure

Decompensation Of Liver Function

Hepatic Decompensation

Hepatic Insufficiency

Liver Cell Necrosis With Hepatic Failure

Liver Insufficiency

Decompensated Liver Disease

End Stage Liver Failure

Liver Necrosis With Hepatic Failure
Intrahepatic Gall Duct Cancer

Malignant Neoplasm Of Intrahepatic Bile Ducts

Malignant Neoplasm Of Intrahepatic Gall Duct

Ca Intrahepatic Bile Ducts

Malignant Neoplasm Of Intrahepatic Biliary Passages

Intrahepatic Bile Duct Carcinoma
Movement Disease

Movement Disorders

Movement Disorder
Combat Disorder

Combat Disorders

Combat Neurosis
Complement Component 2 Deficiency

C2D

C2 Deficiency

Complement 2 Deficiency

Complement Component-2
Cholestasis, Progressive Familial Intrahepatic, 3

PFIC3

Cholestasis, Progressive Familial Intrahepatic 3

Mdr3 Deficiency

Progressive Familial Intrahepatic Cholestasis Type 3

Progressive Familial Intrahepatic Cholestasis 3

Progressive Familial Intrahepatic Cholestasis With Elevated Serum Gamma-Glutamyltransferase

Cholestasis, Progressive Familial Intrahepatic, With Elevated Serum Gamma-Glutamyltransferase

Progressive Familial Intrahepatic Cholestasis With Elevated Serum Gama-Glutamyltransferase

Cholestasis, Intrahepatic, Familial, Progressive, Type 3
Central Pontine Myelinolysis

Myelinolysis, Central Pontine

Osmotic Demyelination Syndrome

Cpm

Myelinolysis Central Pontine

Central Pontine Myelinosis
Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary
Aceruloplasminemia

Cerebellar Ataxia

Hypoceruloplasminemia

Hemosiderosis, Systemic, Due To Aceruloplasminemia

Familial Apoceruloplasmin Deficiency

Hereditary Ceruloplasmin Deficiency

Deficiency Of Ferroxidase

Hypoceruloplasminemia, Hereditary

Ceruloplasmin Deficiency

Systemic Hemosiderosis Due To Aceruloplasminemia

ACERULOP
Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities
Choreatic Disease

Chorea

Hereditary Chorea
Bilirubin Metabolic Disorder

Hyperbilirubinemia

Hereditary Hyperbilirubinemia

Hyperbilirubinemia, Hereditary

Hyperbilirubinaemia
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS01236 ATP7B Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus ATP7B VGNC VGNC:68723
Bos taurus ATP7B VGNC VGNC:26328
Macaca mulatta ATP7B VGNC VGNC:70191
Mus musculus ATP7B MGD MGI:103297
Rattus norvegicus ATP7B RGD RGD:2180
Canis familiaris ATP7B VGNC VGNC:38286