Details for: ATP7B
Associated with
Cells (max top 100)
(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)
- Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: 1.75
Marker Score: 1047 - Cell Name: nasal mucosa goblet cell (CL0002480)
Fold Change: 1.41
Marker Score: 942 - Cell Name: neuron (CL0000540)
Fold Change: 1.32
Marker Score: 5362.5 - Cell Name: choroid plexus epithelial cell (CL0000706)
Fold Change: 1.29
Marker Score: 1187 - Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 1.29
Marker Score: 3030 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 1.13
Marker Score: 17639 - Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: 1.03
Marker Score: 15381 - Cell Name: hepatoblast (CL0005026)
Fold Change: 1.02
Marker Score: 3347 - Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 1
Marker Score: 2039 - Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71809 - Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 48033 - Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30407 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.98
Marker Score: 504 - Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.98
Marker Score: 3778 - Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.97
Marker Score: 457 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2412 - Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: 0.94
Marker Score: 1456.5 - Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.92
Marker Score: 5246 - Cell Name: abnormal cell (CL0001061)
Fold Change: 0.91
Marker Score: 2735 - Cell Name: kidney capillary endothelial cell (CL1000892)
Fold Change: 0.9
Marker Score: 282 - Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.9
Marker Score: 1461.5 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: 0.9
Marker Score: 8536.5 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.9
Marker Score: 322 - Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: 0.89
Marker Score: 32896 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: 0.89
Marker Score: 9161 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5296 - Cell Name: basal cell of epithelium of trachea (CL1000348)
Fold Change: 0.86
Marker Score: 6366 - Cell Name: brainstem motor neuron (CL2000047)
Fold Change: 0.85
Marker Score: 491 - Cell Name: centrilobular region hepatocyte (CL0019029)
Fold Change: 0.84
Marker Score: 5421 - Cell Name: pyramidal neuron (CL0000598)
Fold Change: 0.84
Marker Score: 1403 - Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.83
Marker Score: 634 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.82
Marker Score: 50376 - Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 0.8
Marker Score: 480 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.77
Marker Score: 309 - Cell Name: midzonal region hepatocyte (CL0019028)
Fold Change: 0.77
Marker Score: 3309 - Cell Name: vip GABAergic cortical interneuron (CL4023016)
Fold Change: 0.77
Marker Score: 29071 - Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.76
Marker Score: 392.5 - Cell Name: brush cell (CL0002204)
Fold Change: 0.75
Marker Score: 685 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: 0.73
Marker Score: 6233 - Cell Name: mononuclear cell (CL0000842)
Fold Change: 0.72
Marker Score: 233 - Cell Name: ciliated cell (CL0000064)
Fold Change: 0.72
Marker Score: 2462 - Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: 0.7
Marker Score: 2911 - Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.69
Marker Score: 177 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.68
Marker Score: 2865 - Cell Name: sncg GABAergic cortical interneuron (CL4023015)
Fold Change: 0.68
Marker Score: 5213 - Cell Name: interneuron (CL0000099)
Fold Change: 0.65
Marker Score: 298 - Cell Name: periportal region hepatocyte (CL0019026)
Fold Change: 0.65
Marker Score: 3498 - Cell Name: syncytiotrophoblast cell (CL0000525)
Fold Change: 0.65
Marker Score: 531 - Cell Name: pulmonary ionocyte (CL0017000)
Fold Change: 0.64
Marker Score: 391.5 - Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: 0.63
Marker Score: 5930 - Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: 0.63
Marker Score: 12433 - Cell Name: lung goblet cell (CL1000143)
Fold Change: 0.62
Marker Score: 180 - Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
Fold Change: 0.62
Marker Score: 3235 - Cell Name: cerebral cortex neuron (CL0010012)
Fold Change: 0.62
Marker Score: 1755 - Cell Name: hepatocyte (CL0000182)
Fold Change: 0.58
Marker Score: 399 - Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.56
Marker Score: 361.5 - Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.56
Marker Score: 443 - Cell Name: smooth muscle myoblast (CL0000514)
Fold Change: 0.54
Marker Score: 260 - Cell Name: germ cell (CL0000586)
Fold Change: 0.52
Marker Score: 910 - Cell Name: Purkinje cell (CL0000121)
Fold Change: 0.49
Marker Score: 16597 - Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 0.49
Marker Score: 187 - Cell Name: enterocyte (CL0000584)
Fold Change: 0.47
Marker Score: 2273 - Cell Name: kidney connecting tubule epithelial cell (CL1000768)
Fold Change: 0.46
Marker Score: 645 - Cell Name: OFF retinal ganglion cell (CL4023033)
Fold Change: 0.43
Marker Score: 181 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: 0.43
Marker Score: 1691 - Cell Name: bronchial goblet cell (CL1000312)
Fold Change: 0.43
Marker Score: 211 - Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: 0.43
Marker Score: 9075 - Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
Fold Change: 0.42
Marker Score: 458 - Cell Name: duct epithelial cell (CL0000068)
Fold Change: 0.42
Marker Score: 197 - Cell Name: cerebellar granule cell precursor (CL0002362)
Fold Change: 0.42
Marker Score: 234 - Cell Name: connective tissue cell (CL0002320)
Fold Change: 0.41
Marker Score: 107 - Cell Name: astrocyte (CL0000127)
Fold Change: 0.41
Marker Score: 356 - Cell Name: Bergmann glial cell (CL0000644)
Fold Change: 0.41
Marker Score: 166.5 - Cell Name: stellate neuron (CL0000122)
Fold Change: 0.4
Marker Score: 2155 - Cell Name: inhibitory interneuron (CL0000498)
Fold Change: 0.39
Marker Score: 1801 - Cell Name: ON retinal ganglion cell (CL4023032)
Fold Change: 0.39
Marker Score: 106 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: 0.38
Marker Score: 223 - Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: 0.38
Marker Score: 2278 - Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 0.38
Marker Score: 94 - Cell Name: granulocyte monocyte progenitor cell (CL0000557)
Fold Change: 0.37
Marker Score: 237 - Cell Name: common myeloid progenitor (CL0000049)
Fold Change: 0.37
Marker Score: 99 - Cell Name: primordial germ cell (CL0000670)
Fold Change: 0.37
Marker Score: 463.5 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: 0.37
Marker Score: 809.5 - Cell Name: renal principal cell (CL0005009)
Fold Change: 0.37
Marker Score: 284 - Cell Name: regular atrial cardiac myocyte (CL0002129)
Fold Change: 0.37
Marker Score: 1309 - Cell Name: neuronal receptor cell (CL0000006)
Fold Change: 0.36
Marker Score: 159 - Cell Name: mesothelial cell of epicardium (CL0011019)
Fold Change: 0.36
Marker Score: 115 - Cell Name: renal alpha-intercalated cell (CL0005011)
Fold Change: 0.36
Marker Score: 188.5 - Cell Name: granule cell (CL0000120)
Fold Change: 0.36
Marker Score: 2692 - Cell Name: secretory cell (CL0000151)
Fold Change: 0.35
Marker Score: 640 - Cell Name: CNS interneuron (CL0000402)
Fold Change: 0.35
Marker Score: 168 - Cell Name: foveolar cell of stomach (CL0002179)
Fold Change: 0.34
Marker Score: 2184 - Cell Name: ovarian surface epithelial cell (CL2000064)
Fold Change: 0.33
Marker Score: 899 - Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
Fold Change: 0.33
Marker Score: 350 - Cell Name: primitive red blood cell (CL0002355)
Fold Change: 0.32
Marker Score: 243 - Cell Name: gut endothelial cell (CL0000131)
Fold Change: 0.32
Marker Score: 114 - Cell Name: neuronal brush cell (CL0000555)
Fold Change: 0.32
Marker Score: 1063 - Cell Name: regular ventricular cardiac myocyte (CL0002131)
Fold Change: 0.31
Marker Score: 7021 - Cell Name: cholangiocyte (CL1000488)
Fold Change: 0.31
Marker Score: 117 - Cell Name: ependymal cell (CL0000065)
Fold Change: 0.31
Marker Score: 108
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Other Information
Genular Protein ID: 2491621934
Symbol: ATP7B_HUMAN
Name: Copper-transporting ATPase 2
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 7833924
Title: Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions.
PubMed ID: 7833924
DOI: 10.1093/hmg/3.9.1647
PubMed ID: 15057823
Title: The DNA sequence and analysis of human chromosome 13.
PubMed ID: 15057823
DOI: 10.1038/nature02379
PubMed ID: 10334941
Title: Cloning and characterization of the promoter region of the Wilson disease gene.
PubMed ID: 10334941
PubMed ID: 8298639
Title: The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.
PubMed ID: 8298639
DOI: 10.1038/ng1293-327
PubMed ID: 8298641
Title: The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.
PubMed ID: 8298641
DOI: 10.1038/ng1293-344
PubMed ID: 8250934
Title: Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease.
PubMed ID: 8250934
PubMed ID: 7626145
Title: The Wilson disease gene: spectrum of mutations and their consequences.
PubMed ID: 7626145
DOI: 10.1038/ng0295-210
PubMed ID: 9307043
Title: Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments.
PubMed ID: 9307043
DOI: 10.1042/bj3260897
PubMed ID: 10942420
Title: Copper-dependent trafficking of Wilson disease mutant ATP7B proteins.
PubMed ID: 10942420
PubMed ID: 11231950
Title: A mutation of the Wilson disease protein, ATP7B, is degraded in the proteasomes and forms protein aggregates.
PubMed ID: 11231950
PubMed ID: 12551905
Title: The role of the invariant His-1069 in folding and function of the Wilson's disease protein, the human copper-transporting ATPase ATP7B.
PubMed ID: 12551905
PubMed ID: 15681833
Title: The Wilson disease protein ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 protein.
PubMed ID: 15681833
PubMed ID: 16676348
Title: A new hepatocytic isoform of PLZF lacking the BTB domain interacts with ATP7B, the Wilson disease protein, and positively regulates ERK signal transduction.
PubMed ID: 16676348
DOI: 10.1002/jcb.20980
PubMed ID: 17919502
Title: Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.
PubMed ID: 17919502
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 9837819
Title: Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?
PubMed ID: 9837819
DOI: 10.1086/302163
PubMed ID: 9600907
Title: Localization of the Wilson's disease protein product to mitochondria.
PubMed ID: 9600907
PubMed ID: 12968035
Title: The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein.
PubMed ID: 12968035
PubMed ID: 16554302
Title: Copper-dependent interaction of dynactin subunit p62 with the N terminus of ATP7B but not ATP7A.
PubMed ID: 16554302
PubMed ID: 20032459
Title: Interactions between copper-binding sites determine the redox status and conformation of the regulatory N-terminal domain of ATP7B.
PubMed ID: 20032459
PubMed ID: 11405812
Title: Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.
PubMed ID: 11405812
PubMed ID: 16649058
Title: Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease.
PubMed ID: 16649058
PubMed ID: 17823867
Title: Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis.
PubMed ID: 17823867
PubMed ID: 17949296
Title: Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
PubMed ID: 17949296
PubMed ID: 19033537
Title: Apical targeting and Golgi retention signals reside within a 9-amino acid sequence in the copper-ATPase, ATP7B.
PubMed ID: 19033537
PubMed ID: 21454443
Title: Critical roles for the COOH terminus of the Cu-ATPase ATP7B in protein stability, trans-Golgi network retention, copper sensing, and retrograde trafficking.
PubMed ID: 21454443
PubMed ID: 21398519
Title: Difference in stability of the N-domain underlies distinct intracellular properties of the E1064A and H1069Q mutants of copper-transporting ATPase ATP7B.
PubMed ID: 21398519
PubMed ID: 21645214
Title: Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.
PubMed ID: 21645214
PubMed ID: 21406592
Title: Cellular copper levels determine the phenotype of the Arg875 variant of ATP7B/Wilson disease protein.
PubMed ID: 21406592
PubMed ID: 22240481
Title: Diverse functional properties of Wilson disease ATP7B variants.
PubMed ID: 22240481
PubMed ID: 22763723
Title: Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.
PubMed ID: 22763723
DOI: 10.1038/jhg.2012.65
PubMed ID: 22075048
Title: New novel mutation of the ATP7B gene in a family with Wilson disease.
PubMed ID: 22075048
PubMed ID: 22484412
Title: Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.
PubMed ID: 22484412
PubMed ID: 23518715
Title: A genetic study of Wilson's disease in the United Kingdom.
PubMed ID: 23518715
DOI: 10.1093/brain/awt035
PubMed ID: 23159873
Title: A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.
PubMed ID: 23159873
PubMed ID: 23235335
Title: Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
PubMed ID: 23235335
DOI: 10.1038/jhg.2012.134
PubMed ID: 23275100
Title: Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease.
PubMed ID: 23275100
PubMed ID: 24555712
Title: Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration.
PubMed ID: 24555712
PubMed ID: 24706876
Title: Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.
PubMed ID: 24706876
PubMed ID: 18558714
Title: Metal binding domains 3 and 4 of the Wilson disease protein: solution structure and interaction with the copper(I) chaperone HAH1.
PubMed ID: 18558714
DOI: 10.1021/bi8004736
PubMed ID: 8533760
Title: Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.
PubMed ID: 8533760
PubMed ID: 8938442
Title: Efficient detection of mutations in Wilson disease by manifold sequencing.
PubMed ID: 8938442
PubMed ID: 8931691
Title: Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients.
PubMed ID: 8931691
PubMed ID: 8782057
Title: High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.
PubMed ID: 8782057
DOI: 10.1136/jmg.33.6.521
PubMed ID: 9311736
Title: Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.
PubMed ID: 9311736
DOI: 10.1086/514864
PubMed ID: 9772425
Title: Identification of a novel missense mutation in Wilson's disease gene.
PubMed ID: 9772425
PubMed ID: 9222767
Title: 24 bp deletion and Ala1278 to Val mutation of the ATP7B gene in a Sardinian family with Wilson disease.
PubMed ID: 9222767
DOI: 10.1002/(sici)1098-1004(1997)10:1<84::aid-humu14>3.0.co;2-w
PubMed ID: 8980283
Title: A homozygous nonsense mutation and a combination of two mutations of the Wilson disease gene in patients with different lysyl oxidase activities in cultured fibroblasts.
PubMed ID: 8980283
PubMed ID: 9887381
Title: His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype.
PubMed ID: 9887381
PubMed ID: 9482578
Title: Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.
PubMed ID: 9482578
DOI: 10.1002/(sici)1098-1004(1998)11:2<145::aid-humu7>3.0.co;2-i
PubMed ID: 9554743
Title: Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.
PubMed ID: 9554743
DOI: 10.1002/(sici)1098-1004(1998)11:4<275::aid-humu4>3.0.co;2-l
PubMed ID: 9452121
Title: Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population.
PubMed ID: 9452121
PubMed ID: 9671269
Title: Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.
PubMed ID: 9671269
DOI: 10.1002/(sici)1098-1004(1998)12:2<89::aid-humu3>3.0.co;2-g
PubMed ID: 9829905
Title: Mutation analysis of Wilson disease in Taiwan and description of six new mutations.
PubMed ID: 9829905
DOI: 10.1002/(sici)1098-1004(1998)12:6<370::aid-humu2>3.0.co;2-s
PubMed ID: 10194254
Title: Missense mutations of exons 14 and 18 of Wilson's disease gene in Chinese patients.
PubMed ID: 10194254
PubMed ID: 10447265
Title: Mutation analysis in patients with Wilson disease: identification of 4 novel mutations.
PubMed ID: 10447265
DOI: 10.1002/(sici)1098-1004(1999)14:1<88::aid-humu15>3.0.co;2-h
PubMed ID: 10502776
Title: Molecular characterization of Wilson disease in the Sardinian population -- evidence of a founder effect.
PubMed ID: 10502776
DOI: 10.1002/(sici)1098-1004(199910)14:4<294::aid-humu4>3.0.co;2-9
PubMed ID: 10502777
Title: A study of Wilson disease mutations in Britain.
PubMed ID: 10502777
DOI: 10.1002/(sici)1098-1004(199910)14:4<304::aid-humu5>3.0.co;2-w
PubMed ID: 10051024
Title: The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease.
PubMed ID: 10051024
PubMed ID: 10544227
Title: Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
PubMed ID: 10544227
PubMed ID: 10453196
Title: Molecular analysis and diagnosis in Japanese patients with Wilson's disease.
PubMed ID: 10453196
PubMed ID: 11216666
Title: Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.
PubMed ID: 11216666
PubMed ID: 11093740
Title: High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): a genetic and clinical study.
PubMed ID: 11093740
PubMed ID: 10790207
Title: Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.
PubMed ID: 10790207
DOI: 10.1002/(sici)1098-1004(200005)15:5<454::aid-humu7>3.0.co;2-j
PubMed ID: 10721669
Title: Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.
PubMed ID: 10721669
PubMed ID: 11043508
Title: Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.
PubMed ID: 11043508
PubMed ID: 11180609
Title: Three novel mutations (P760L, L1305P, Q1351Stop) causing Wilson disease.
PubMed ID: 11180609
DOI: 10.1002/1098-1004(200102)17:2<156::aid-humu18>3.0.co;2-0
PubMed ID: 11690702
Title: 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
PubMed ID: 11243728
PubMed ID: 11954751
Title: Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene.
PubMed ID: 11954751
PubMed ID: 12544487
Title: Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease.
PubMed ID: 12544487
PubMed ID: 12325021
Title: Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.
PubMed ID: 12325021
DOI: 10.1002/humu.10121
PubMed ID: 12376745
Title: Two families with Wilson disease in which siblings showed different phenotypes.
PubMed ID: 12376745
PubMed ID: 14986826
Title: Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.
PubMed ID: 14986826
PubMed ID: 14639035
Title: A rare homozygous missense mutation in ATP7B exon 19 in a case of Wilson disease.
PubMed ID: 14639035
DOI: 10.1159/000075092
PubMed ID: 15024742
Title: Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.
PubMed ID: 15024742
DOI: 10.1002/humu.9227
PubMed ID: 15557537
Title: Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation.
PubMed ID: 15557537
PubMed ID: 14966923
Title: Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.
PubMed ID: 14966923
PubMed ID: 15845031
Title: Wilson disease: high prevalence in a mountainous area of Crete.
PubMed ID: 15845031
PubMed ID: 15811015
Title: Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype.
PubMed ID: 15811015
PubMed ID: 15952988
Title: 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
PubMed ID: 16207219
Title: Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population.
PubMed ID: 16207219
PubMed ID: 16283883
Title: 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
PubMed ID: 16088907
Title: Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry.
PubMed ID: 16088907
DOI: 10.1002/humu.9358
PubMed ID: 15967699
Title: Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
PubMed ID: 15967699
PubMed ID: 17718866
Title: Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease.
PubMed ID: 17718866
PubMed ID: 18373411
Title: New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.
PubMed ID: 18373411
PubMed ID: 18203200
Title: Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system.
PubMed ID: 18203200
DOI: 10.1002/humu.20674
PubMed ID: 20333758
Title: Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.
PubMed ID: 20333758
DOI: 10.1002/humu.21228
PubMed ID: 21682854
Title: Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.
PubMed ID: 21682854
PubMed ID: 23333878
Title: Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations.
PubMed ID: 23333878
PubMed ID: 24303094
Title: Diagnostic challenges of Wilson's disease presenting as acute pancreatitis, cholangitis, and jaundice.
PubMed ID: 24303094
PubMed ID: 24476933
Title: A novel ATP7B gene mutation in a liver failure patient with normal ceruloplasmin and low serum alkaline phosphatase.
PubMed ID: 24476933
PubMed ID: 23962630
Title: Pathogenic compound heterozygous ATP7B mutations with hypoceruloplasminaemia without clinical features of Wilson's disease.
PubMed ID: 23962630
PubMed ID: 25704634
Title: Genetic and clinical analysis in a cohort of patients with Wilson's disease in southwestern China.
PubMed ID: 25704634
PubMed ID: 25982861
Title: Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
PubMed ID: 25982861
PubMed ID: 26004889
Title: Functional characterization of new mutations in Wilson disease gene (ATP7B) using the yeast model.
PubMed ID: 26004889
PubMed ID: 28107647
Title: Programmed ribosomal frameshifting generates a copper transporter and a copper chaperone from the same gene.
PubMed ID: 28107647
PubMed ID: 28856630
Title: Identification of two novel mutations in the ATP7B gene that cause Wilson's disease.
PubMed ID: 28856630
PubMed ID: 32284880
Title: ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping.
PubMed ID: 32284880
Sequence Information:
- Length: 1465
- Mass: 157263
- Checksum: 419145448F9E959A
- Sequence:
MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA TSKALVKFDP EIIGPRDIIK IIEEIGFHAS LAQRNPNAHH LDHKMEIKQW KKSFLCSLVF GIPVMALMIY MLIPSNEPHQ SMVLDHNIIP GLSILNLIFF ILCTFVQLLG GWYFYVQAYK SLRHRSANMD VLIVLATSIA YVYSLVILVV AVAEKAERSP VTFFDTPPML FVFIALGRWL EHLAKSKTSE ALAKLMSLQA TEATVVTLGE DNLIIREEQV PMELVQRGDI VKVVPGGKFP VDGKVLEGNT MADESLITGE AMPVTKKPGS TVIAGSINAH GSVLIKATHV GNDTTLAQIV KLVEEAQMSK APIQQLADRF SGYFVPFIII MSTLTLVVWI VIGFIDFGVV QRYFPNPNKH ISQTEVIIRF AFQTSITVLC IACPCSLGLA TPTAVMVGTG VAAQNGILIK GGKPLEMAHK IKTVMFDKTG TITHGVPRVM RVLLLGDVAT LPLRKVLAVV GTAEASSEHP LGVAVTKYCK EELGTETLGY CTDFQAVPGC GIGCKVSNVE GILAHSERPL SAPASHLNEA GSLPAEKDAV PQTFSVLIGN REWLRRNGLT ISSDVSDAMT DHEMKGQTAI LVAIDGVLCG MIAIADAVKQ EAALAVHTLQ SMGVDVVLIT GDNRKTARAI ATQVGINKVF AEVLPSHKVA KVQELQNKGK KVAMVGDGVN DSPALAQADM GVAIGTGTDV AIEAADVVLI RNDLLDVVAS IHLSKRTVRR IRINLVLALI YNLVGIPIAA GVFMPIGIVL QPWMGSAAMA ASSVSVVLSS LQLKCYKKPD LERYEAQAHG HMKPLTASQV SVHIGMDDRW RDSPRATPWD QVSYVSQVSL SSLTSDKPSR HSAAADDDGD KWSLLLNGRD EEQYI
Genular Protein ID: 2227863340
Symbol: E7ET55_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15057823
Title: The DNA sequence and analysis of human chromosome 13.
PubMed ID: 15057823
DOI: 10.1038/nature02379
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
Sequence Information:
- Length: 1381
- Mass: 147638
- Checksum: B0737E4D897D71E3
- Sequence:
MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA TSKALVKFDP EIIGPRDIIK IIELLGGWYF YVQAYKSLRH RSANMDVLIV LATSIAYVYS LVILVVAVAE KAERSPVTFF DTPPMLFVFI ALGRWLEHLA KSKTSEALAK LMSLQATEAT VVTLGEDNLI IREEQVPMEL VQRGDIVKVV PGGKFPVDGK VLEGNTMADE SLITGEAMPV TKKPGSTVIA GSINAHGSVL IKATHVGNDT TLAQIVKLVE EAQMSKAPIQ QLADRFSGYF VPFIIIMSTL TLVVWIVIGF IDFGVVQRYF PNPNKHISQT EVIIRFAFQT SITVLCIACP CSLGLATPTA VMVGTGVAAQ NGILIKGGKP LEMAHKIKTV MFDKTGTITH GVPRVMRVLL LGDVATLPLR KVLAVVGTAE ASSEHPLGVA VTKYCKEELG TETLGYCTDF QAVPGCGIGC KVSNVEGILA HSERPLSAPA SHLNEAGSLP AEKDAVPQTF SVLIGNREWL RRNGLTISSD VSDAMTDHEM KGQTAILVAI DGVLCGMIAI ADAVKQEAAL AVHTLQSMGV DVVLITGDNR KTARAIATQV GINKVFAEVL PSHKVAKVQE LQNKGKKVAM VGDGVNDSPA LAQADMGVAI GTGTDVAIEA ADVVLIRNDL LDVVASIHLS KRTVRRIRIN LVLALIYNLV GIPIAAGVFM PIGIVLQPWM GSAAMAASSV SVVLSSLQLK CYKKPDLERY EAQAHGHMKP LTASQVSVHI GMDDRWRDSP RATPWDQVSY VSQVSLSSLT SDKPSRHSAA ADDDGDKWSL LLNGRDEEQY I
Genular Protein ID: 2641347736
Symbol: B7ZLR4_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 15057823
Title: The DNA sequence and analysis of human chromosome 13.
PubMed ID: 15057823
DOI: 10.1038/nature02379
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
Sequence Information:
- Length: 1417
- Mass: 151875
- Checksum: 9CC139F3E03D670C
- Sequence:
MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA TSKALVKFDP EIIGPRDIIK IIEEIGFHAS LAQRNPNAHH LDHKMEIKQW KKSFLCSLVF GIPVMALMIY MLIPSNEPHQ SMVLDHNIIP GLSILNLIFF ILCTFVQAER SPVTFFDTPP MLFVFIALGR WLEHLAKSKT SEALAKLMSL QATEATVVTL GEDNLIIREE QVPMELVQRG DIVKVVPGGK FPVDGKVLEG NTMADESLIT GEAMPVTKKP GSTVIAGSIN AHGSVLIKAT HVGNDTTLAQ IVKLVEEAQM SKAPIQQLAD RFSGYFVPFI IIMSTLTLVV WIVIGFIDFG VVQRYFPNPN KHISQTEVII RFAFQTSITV LCIACPCSLG LATPTAVMVG TGVAAQNGIL IKGGKPLEMA HKIKTVMFDK TGTITHGVPR VMRVLLLGDV ATLPLRKVLA VVGTAEASSE HPLGVAVTKY CKEELGTETL GYCTDFQAVP GCGIGCKVSN VEGILAHSER PLSAPASHLN EAGSLPAEKD AVPQTFSVLI GNREWLRRNG LTISSDVSDA MTDHEMKGQT AILVAIDGVL CGMIAIADAV KQEAALAVHT LQSMGVDVVL ITGDNRKTAR AIATQVGINK VFAEVLPSHK VAKVQELQNK GKKVAMVGDG VNDSPALAQA DMGVAIGTGT DVAIEAADVV LIRNDLLDVV ASIHLSKRTV RRIRINLVLA LIYNLVGIPI AAGVFMPIGI VLQPWMGSAA MAASSVSVVL SSLQLKCYKK PDLERYEAQA HGHMKPLTAS QVSVHIGMDD RWRDSPRATP WDQVSYVSQV SLSSLTSDKP SRHSAAADDD GDKWSLLLNG RDEEQYI
Genular Protein ID: 1802371329
Symbol: B7ZLR3_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
Sequence Information:
- Length: 1387
- Mass: 148373
- Checksum: A92FA12CAC667456
- Sequence:
MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPAVISP EELRAAIEDM GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSLQEVA PHTGRLPANH APDILAKSPQ STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA TSKALVKFDP EIIGPRDIIK IIEEIGFHAS LAQRNPNAHH LDHKMEIKQW KKSFLCSLVF GIPVMALMIY MLIPSNEPHQ SMVLDHNIIP GLSILNLIFF ILCTFVQSKT SEALAKLMSL QATEATVVTL GEDNLIIREE QVPMELVQRG DIVRVVPGGK FPVDGKVLEG NTMADESLIT GEAMPVTKKP GSTVIAGSIN AHGSVLIKAT HVGNDTTLAQ IVKLVEEAQM SKAPIQQLAD RFSGYFVPFI IIMSTLTLVV WIVIGFIDFG VVQKYFPNPN KHISQTEVII RFAFQTSITV LCIACPCSLG LATPTAVMVG TGVAAQNGIL IKGGKPLEMA HKIKTVMFDK TGTITHGVPR VMRVLLLGDV ATLPLRKVLA VVGTAEASSE HPLGVAVTKY CKEELGTETL GYCTDFQAVP GCGIGCKVSN VEGILAHSER PLSAPASHLN EAGSLPAEKD AAPQTFSVLI GNREWLRRNG LTISSDVSDA MTDHEMKGQT AILVAIDGVL CGMIAIADAV KQEAALAVHT LQSMGVDVVL ITGDNRKTAR AIATQVGINK VFAEVLPSHK VAKVQELQNK GKKVAMVGDG VNDSPALAQA DMGVAIGTGT DVAIEAADVV LIRNDLLDVV ASIHLSKRTV RRIRINLVLA LIYNLVGIPI AAGVFMPIGI VLQPWMGSAA MAASSVSVVL SSLQLKCYKK PDLERYEAQA HGHMKPLTAS QVSVHIGMDD RWRDSPRATP WDQVSYVSQV SLSSLTSDKP SRHSAAADDD GDKWSLLLNG RDEEQYI
Genular Protein ID: 972853799
Symbol: A0A669KB88_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15057823
Title: The DNA sequence and analysis of human chromosome 13.
PubMed ID: 15057823
DOI: 10.1038/nature02379
Sequence Information:
- Length: 1387
- Mass: 148403
- Checksum: 14340BC97D1427F6
- Sequence:
MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA TSKALVKFDP EIIGPRDIIK IIEEIGFHAS LAQRNPNAHH LDHKMEIKQW KKSFLCSLVF GIPVMALMIY MLIPSNEPHQ SMVLDHNIIP GLSILNLIFF ILCTFVQSKT SEALAKLMSL QATEATVVTL GEDNLIIREE QVPMELVQRG DIVKVVPGGK FPVDGKVLEG NTMADESLIT GEAMPVTKKP GSTVIAGSIN AHGSVLIKAT HVGNDTTLAQ IVKLVEEAQM SKAPIQQLAD RFSGYFVPFI IIMSTLTLVV WIVIGFIDFG VVQRYFPNPN KHISQTEVII RFAFQTSITV LCIACPCSLG LATPTAVMVG TGVAAQNGIL IKGGKPLEMA HKIKTVMFDK TGTITHGVPR VMRVLLLGDV ATLPLRKVLA VVGTAEASSE HPLGVAVTKY CKEELGTETL GYCTDFQAVP GCGIGCKVSN VEGILAHSER PLSAPASHLN EAGSLPAEKD AVPQTFSVLI GNREWLRRNG LTISSDVSDA MTDHEMKGQT AILVAIDGVL CGMIAIADAV KQEAALAVHT LQSMGVDVVL ITGDNRKTAR AIATQVGINK VFAEVLPSHK VAKVQELQNK GKKVAMVGDG VNDSPALAQA DMGVAIGTGT DVAIEAADVV LIRNDLLDVV ASIHLSKRTV RRIRINLVLA LIYNLVGIPI AAGVFMPIGI VLQPWMGSAA MAASSVSVVL SSLQLKCYKK PDLERYEAQA HGHMKPLTAS QVSVHIGMDD RWRDSPRATP WDQVSYVSQV SLSSLTSDKP SRHSAAADDD GDKWSLLLNG RDEEQYI
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.