ATP7B Gene
protein-coding GIFtS : 65 GCID: GC13 M052506
ATPase, Cu++ transporting, beta polypeptide ATPase, Cu++ transporting, beta polypeptide (Wilson disease)... WND )
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Aliasesfor ATP7B gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases ATPase, Cu++ Transporting, Beta Polypeptide 1 2 EC 3.6.3.43 8 WND1 2 3 5 ATPase, Cu++ Transporting, Beta Polypeptide (Wilson Disease)1 Copper Pump 22 3 WD2 PWD2 3 ATPase, Cu(2+)- Transporting, Beta Polypeptide2 WC12 3 Copper-Transporting ATPase 22 Wilson Disease-Associated Protein2 3 EC 3.6.38
Export aliases for ATP7B gene to outside databases Previous GC identifers: GC13M050506 GC13M046494 GC13M051443 GC13M050304 GC13M051404 GC13M033295
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Summariesfor ATP7B gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for ATP7B : 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 functions as a monomer, exporting 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 (WD). (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: ATP7B_HUMAN, P35670 Function : Involved in the export of copper out of the cells, such as the efflux of hepatic copper into the bileGene Wiki entry for ATP7B (Wilson disease protein)
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Genomic Viewsfor ATP7B gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,miRBase ,UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000013.10 NC_018924.1 NT_024524.14 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the ATP7B gene promoter:ISGF-3 Sp1 p53 NRSF form 2 C/EBPalpha GATA-1 CHOP-10 COMP1 MRF-2 Other transcription factors Search SABiosciences Chromatin IP Primers for ATP7B Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human mouse rat
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 13q14.3 Ensembl cytogenetic band: 13q14.3 HGNC cytogenetic band: 13q14.3 ATP7B Gene in genomic location: bands according to Ensembl, locations according to
Entrez Gene Ensembl GeneLoc information about chromosome 13 GeneLoc Exon Structure
GeneLoc location for GC13M052506: view genomic region
(about GC identifiers )
Start: 52,506,805 bp from pter End:
52,585,630 bp from pter
Size: 78,826 bases Orientation:
minus strand
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Proteinsfor ATP7B gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: ATP7B_HUMAN, P35670 See
protein sequence )Recommended Name: Size : 1465 amino acids; 157263 DaSubunit : Monomer. Interacts with COMMD1/MURR1. Interacts with DCTN4, in a copper-dependent manner. Interacts with ATOX1Subcellular location : Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein (By similarity).Note=Predominantly found in the trans-Golgi network (TGN). Not redistributed to the plasma membrane in response to elevated copper levels
Subcellular location : Isoform 2: CytoplasmSubcellular location : WND/140 kDa: MitochondrionSequence caution : Sequence=AAA16173.1; Type=Frameshift; Positions=830; Sequence=AAA79211.1; Type=Frameshift;Positions=456; Sequence=AAA79212.1; Type=Frameshift; Positions=456;
4 PDB 3D structures from :2ARF (3D) 2EW9 (3D) 2KOY (3D) 2ROP (3D) Secondary accessions : Q16318 Q16319 Q4U3V3 Q59FJ9 Q5T7X7Alternative splicing : 4 isoforms : P35670-1 P35670-2 P35670-3 P35670-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for ATP7B: NX_P35670 Post-translational modifications:
Isoform 1 may be proteolytically cleaved at the N-terminus to produce the WND/140 kDa form1 View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P35670 4/30 DME Specific Peptides for ATP7B (P35670 ) (see all 30 )ATP7B Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins (3 alternative transcripts): NP_000044.2 NP_001005918.1 NP_001230111.1 ENSEMBL proteins: ENSP00000242839 ENSP00000383217 ENSP00000342559 ENSP00000416738 ENSP00000383221 ENSP00000393343 ENSP00000390360 ENSP00000443128 Reactome Protein details: P35670 Human Recombinant Protein Products for ATP7B: Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12 ): About this table
About GeneDecksing ATP7B Antibody Products: Assay Products for ATP7B:
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Protein
Domains /for ATP7B gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section About GeneDecksing 5/8 InterPro domains/families (see all 8 ):
Graphical View of Domain Structure for InterPro Entry P35670 ProtoNet protein and cluster: P35670
4 Blocks protein families : IPB001757 IPB001877 IPB006121 IPB008250 UniProtKB/Swiss-Prot: ATP7B_HUMAN, P35670 Domain : Each HMA domain can bind a copper ion, they are tightly packed and closely interact with each other. Wild-typeATP7B can usually be loaded with an average 5.5 copper atoms per molecule Similarity : Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamilySimilarity : Contains 6 HMA domains
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Functionfor ATP7B gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory ,
SABiosciences ,
miRNA Gene Targets from miRTarBase ,
shRNA from
OriGene ,
Sirion Biotech ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Sirion Biotech ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
Sirion Biotech ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Molecular Function: UniProtKB/Swiss-Prot Summary: ATP7B_HUMAN, P35670 Function : Involved in the export of copper out of the cells, such as the efflux of hepatic copper into the bileCatalytic activity : ATP + H(2)O + Cu(2+)(In) = ADP + phosphate + Cu(2+)(Out)
Genatlas biochemistry entry for ATP7B copper binding P-type ATPase 7B,1-60kDa,expressed in liver,kidney,brain,placenta,with alternatively spliced isoforms,tissue specific for brain and liver,and a 140kDa mitochondrial form,formed after proleolytic cleavage at the N terminus of ATP7B,involved in subcellular transport and copper efflux Enzyme Numbers (IUBMB): EC 3.6.3.4 1 2 EC 3.6.3 2 Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7 ): About this table
About GeneDecksing Phenotypes: 15 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Atp7b) :About GeneDecksing Animal Models: Atp7b tm1Tcg for ATP7BClone Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 4 )human mouse rat see all 2 )OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): ATP7B (NM_000053 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ATP7B Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ATP7B
In Situ AssayAdvanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP7B
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Pathways & Interactionsfor ATP7B gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways About this table See pathways by source Super-pathway contained gene-specific pathways 1 Ion channel transport 2 Platinum Pathway, Pharmacokinetics/Pharmacodynamics 3 SLC-mediated transmembrane transport
Pathway sources See GeneCards unified pathways Show all pathways 3 1 ATP7B About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ATP7B STRING Interaction
Network Preview (showing 5 interactants - click image to see 6)5/18 Interacting proteins for ATP7B (P35670 3 ENSP00000242839 4 via UniProtKB, MINT, STRING , and/or I2D (see all 18 )About this table Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13 ): About this table
About GeneDecksing
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Drugs & Compoundsfor ATP7B gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section About GeneDecksing Browse Tocris compounds for ATP7B 5 HMDB Compounds for ATP7B About this table 1 DrugBank Compound for ATP7B About this table 10/16 Novoseek chemical compound relationships for ATP7B gene (see all 16 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
copper
90.1
548
16554302 (9), 10982773 (8), 16939419 (7), 19141620 (6) (see all 99 )
acyl phosphate
68.1
1
16939419 (1)
tetrathiomolybdate
67
1
15703644 (1)
copper(i)
59.2
3
19645496 (1), 19181666 (1), 16910670 (1)
cisplatin
58.2
110
19141620 (8), 15102688 (5), 12509969 (5), 12216079 (5) (see all 29 )
oxaliplatin
55.2
5
19296535 (3), 15607932 (1)
platinum
51.8
12
18636185 (2), 20045993 (2), 19470734 (2), 16775422 (1) (see all 5 )
zinc
43.7
3
9794921 (1), 15703644 (1)
carboplatin
43.3
10
12869652 (5), 15607932 (1)
atp
37.5
16
20333758 (2), 11605050 (1), 12426114 (1), 12509969 (1) (see all 10 )
ATP7B
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Transcriptsfor ATP7B gene (Secondary structures according to
fRNAdb ,Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC , GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,EMD Millipore ,
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
Sirion Biotech ,
microRNA from QIAGEN ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for ATP7B gene (3 alternative transcripts): NM_000053.3 NM_001005918.2 NM_001243182.1 Unigene Cluster for ATP7B:
ATPase, Cu++ transporting, beta polypeptide Hs.492280 [show with all ESTs ] Unigene Representative Sequence: NM_000053 11 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000242839 (uc001vfv.2 uc010tgs.1 uc001vfy.2 uc010adv.2 uc001vfw.2 uc001vfx.2 uc010tgt.1 uc010tgu.1 uc010tgv.1 )ENST00000482841 ENST00000466629 ENST00000483772 ENST00000400366 ENST00000344297 ENST00000448424 ENST00000400370 ENST00000418097 (uc010tgw.1 ) ENST00000417240 ENST00000542656 Clone OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 4 )human mouse rat see all 2 )OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): ATP7B (NM_000053 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ATP7B Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ATP7B
Additional cDNA sequence: AK302074.1 AK302490.1 BC117200.1 BC143973.1 BC143974.1 BC143975.1 BC143976.1 DQ015922.1 L25442.1 U03464.1 U11700.1
13 DOTS entries : DT.75115355 DT.95158842
DT.441029 DT.120790367 DT.120790421 DT.120790368 DT.95298489 DT.92423664 DT.100756494 DT.40122019 DT.100669556 DT.100734907 DT.120790378 24/105 AceView cDNA sequences (see all 105 ):
AW303610 BM834965 AI125518 CR591822 AA972449 AA932809 AA378967 AA927394 CN482447 CR606188 BE501990 BM710907 BX479483 AL543205 BQ083149 N26536 AA620862 AW152143 AA333258 AW189768 AU139954 BQ878283 BU682287 BX092362 GeneLoc Exon Structure
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Expression for ATP7B gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section ATP7B expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: CAATATTAGAAbout this image ATP7B expression in embryonic tissues and stem cells About this table
See ATP7B Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for ATP7B SOURCE GeneReport for Unigene cluster: Hs.492280 UniProtKB/Swiss-Prot: ATP7B_HUMAN, P35670 Tissue specificity : Most abundant in liver and kidney and also found in brain. Isoform 2 is expressed in brain but notin liver. The cleaved form WND/140 kDa is found in liver cell lines and other tissues SABiosciences Expression via Pathway-Focused PCR Array including ATP7B : Primer OriGene genome-wide validated SYBR primer pairs in human mouse rat Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat In Situ Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP7B
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Orthologsfor ATP7B gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section Orthologs for ATP7B gene from 8/31 species (see all 31 ) About this table
Organism
Taxonomic
Gene
Description
Human
Orthology
Details
chicken Aves ATP7B1
ATPase, Cu++ transporting, beta polypeptide
70.42(n) 71.38(a)
418879 XM_417073.3 XP_417073.3
lizard Reptilia ATP7B6
--
67(a)
1 ↔ 1
1(132817916-132843567)
zebrafish Actinopterygii atp7b1
ATPase, Cu++ transporting, beta polypeptide (Wilson disease) less
65.72(n) 65.92(a)
556499 XM_679323.4 XP_684415.4
fruit fly Insecta CG18863 1
copper-exporting ATPase3 1
47(a) 3 55.65(n) 1 51.17(a) 1
10F23 32142 1 NM_132528.2 1 NP_572756.3 1
worm Secernentea cua-16
CU (copper) ATPase family member (cua-1)
42(a)
1 → many
III(13439627-13455206)
thale cress eudicotyledons RAN11
copper-transporting ATPase RAN1
51.14(n) 44.51(a)
834509 NM_123847.2 NP_199292.1
rice Liliopsida AK072990.12
--
71.67(n)
AK072990.1
E. coli Gamma proteobacteria copA6
copper transporter
32(a)
possible ortholog
Chromosome(508099-510603)
ENSEMBL Gene Tree for ATP7B (if available)TreeFam Gene Tree for ATP7B (if available)
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Paralogsfor ATP7B gene (Paralogs according to
1 HomoloGene ,2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for ATP7B gene ATP7A 2 1 SIMAP similar gene for ATP7B using alignment to 36 protein entries: ATP7B_HUMAN (see all proteins ):ATP7A About GeneDecksing 1 Pseudogenes.org Pseudogene for ATP7B PGOHUM00000234894
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Genomic Variantsfor ATP7B gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical Chr 13 pos Sequence # AA Type More # Allele Pop Total More
HapMap Linkage Disequilibrium report for ATP7B (52506805 - 52585630 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for ATP7B: -- Human Gene Mutation Database (HGMD) : ATP7B Locus Specific Mutation Databases (LSDB): ATP7B SABiosciences Cancer Mutation PCR Assays
2 SABiosciences qBiomarker Copy Number PCR Arrays containing ATP7B :
QIAGEN SeqTarget long-range PCR primers in human mouse rat
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Disorders
/ Diseasesfor ATP7B gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section About GeneDecksing OMIM gene information: 606882 OMIM disorders : 277900 UniProtKB/Swiss-Prot: ATP7B_HUMAN, P35670 Defects in ATP7B are the cause of Wilson disease (WD) [MIM:277900]. WD is an autosomal recessive disorder of copper metabolism in which copper cannot be incorporated into ceruloplasmin in liver, and cannot be excreted from the liver into the bile. Copper accumulates in the liver and subsequently in the brain and kidney. The disease is characterized by neurologic manifestations and signs of cirrhosis 20/38 (see all 38 ): About MalaCards wilson disease hailey-hailey disease hepatitis sensorineural hearing loss menkes disease hearing loss metabolic disorders liver cirrhosis oral squamous cell carcinoma squamous cell carcinoma hemolytic anemia hemochromatosis neurodegenerative disease congenital cataracts retinopathy of prematurity parkinson's disease liver disease cataract carcinoma ovarian carcinoma 4 diseases from the University of Copenhagen DISEASES database for ATP7B :Wilson disease Retinopathy of prematurity Autosomal recessive disease Menkes disease 10/23 Novoseek disease relationships for ATP7B gene (see all 23 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
wilson disease
97.9
274
9837819 (4), 12557139 (4), 11231950 (3), 10777157 (2) (see all 99 )
menkes disease
90.8
26
15634671 (2), 7833924 (1), 9359859 (1), 12181646 (1) (see all 21 )
genetic disorder
50.2
5
14709553 (1), 12557139 (1), 14579150 (1), 15519648 (1) (see all 5 )
ovarian carcinoma
40.3
24
15102688 (8), 12216079 (5), 11605050 (1), 12869652 (1) (see all 7 )
cirrhosis
34.7
1
9949209 (1)
movement disorders
31.1
3
19572946 (3)
liver damage
31.1
2
16549536 (1), 20453399 (1)
liver dysfunction
30.8
2
15511628 (1)
hepatic failure fulminant
22.7
1
10777157 (1)
chronic liver disease
18.3
1
16423615 (1)
GeneTests: ATP7B Wilson Disease Genetic Association Database (GAD): ATP7B Human Genome Epidemiology (HuGE) Navigator: ATP7B (38 documents) Export disorders for ATP7B gene to outside databases
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Publicationsfor ATP7B gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for ATP7B gene, integrated from 9 sources (see all 370 ):(articles sorted by number of sources associating them with ATP7B) Utopia : connect your pdf to the dynamic
Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. (PubMed id 15024742) 1 , 2 , 4, 9(2004) Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease. (PubMed id 14966923) 1 , 2 , 4, 9(2004) Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. (PubMed id 15967699) 1 , 2 , 4, 9(2005) High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis. (PubMed id 11690702) 1 , 2 , 4, 9(2001) The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. (PubMed id 8298641) 1 , 2 , 3, 9(1993) The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. (PubMed id 8298639) 1 , 2 , 3(1993) Copper-dependent interaction of dynactin subunit p62 with the N terminus of ATP7B but not ATP7A. (PubMed id 16554302) 1 , 2 , 9(2006) Mutation analysis of Wilson disease in the Spanish population -identification of a prevalent substitution and eight novel mutations in the ATP7B gene. (PubMed id 15952988) 1 , 2 , 9(2005) p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease. (PubMed id 16211609) 1 , 4, 9(2006) Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease. (PubMed id 16283883) 1 , 2 , 9(2005)
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External Searches for ATP7B gene
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Specialized Databases showing ATP7B gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description PharmGKB entry for ATP7B Pharmacogenomics, SNPs, Pathways GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATP7B Wilson Disease Mutation Database http://www.medicalgenetics.med.ualberta.ca/wilson/index.php
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About This Section Patent Information for ATP7B gene: ATP7B GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor ATP7B gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 and Sirion Biotech , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript , LifeMap BioReagents , and Sirion Biotech , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences , In Situ Hybridization Assays from Advanced Cell Diagnostics , Animal models from inGenious Targeting Laboratory )About This Section
OriGene Antibodies for ATP7B OriGene shRNA RFP for ATP7B OriGene 29mer shRNA kits in GFP-retroviral vector in human mouse rat OriGene genome-wide validated SYBR primer pairs in human mouse rat OriGene Protein Over-expression Lysate for ATP7B Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for ATP7B OriGene 3'-UTR Clone for ATP7B OriGene untagged cDNA clones in CMV expression vector in human mouse rat OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs OriGene Purified Protein for ATP7B OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for ATP7B OriGene Custom Protein Services for ATP7B OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ATP7B QIAGEN SeqTarget long-range PCR primers in human mouse rat QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human mouse rat QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat
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ThermoFisher Antibodies for ATP7B
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