Property Summary

NCBI Gene PubMed Count 258
Grant Count 187
R01 Count 81
Funding $26,356,166.47
PubMed Score 774.08
PubTator Score 753.92

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
malignant mesothelioma 2.900 0.000
osteosarcoma -1.644 0.000
atypical teratoid/rhabdoid tumor 1.300 0.000
intraductal papillary-mucinous neoplasm ... 2.600 0.002
lung cancer 1.200 0.003
cystic fibrosis -1.400 0.003
ovarian cancer -2.700 0.000

Synonym

Accession P35670 Q16318 Q16319 Q4U3V3 Q59FJ9 Q5T7X7
Symbols WD
PWD
WC1
WND

Gene

PANTHER Protein Class (2)

PDB

2ARF   2EW9   2KOY   2LQB   2ROP  

 OMIM Term (1)

Gene RIF (212)

PMID Text
26829729 7 novel mutations, c.3871G>A(p.A1291T), c.2593_2594insGTCA, c.2790_2792delCAT, c.3661_3663delGGG, c.3700delG, c.4094_4097delCTGT, and IVS6+1G>A, are associated with Wilson's disease.
26797276 Metal-dependent movement of the first four metal-binding domains in ATP7B may be a trigger that initiates the overall catalytic cycle.
26782526 24 ATP7B distinct mutations, seven of which are novel, have been found in 35 patients with hepatolenticular degeneration.
26483271 With the capability of generating relatively higher throughput in a short time period, the NGS assay is a viable alternative to Sanger sequencing for detecting ATP7B mutations causally linked to Wilson disease in the clinical diagnostic laboratory
26253413 Novel mutation of the ATP7B gene was found in Chinese families with pre-symptomatic Wilson's disease.
26215059 Nine out of the thirty-two pediatric Turkish WD patients had no mutations in the ATP7B gene.
26207595 analysis of the geographic distribution of ATP7B mutations in Wilson disease [review]
26182283 The ATP7B gene testing for the boy, his sister, and their parents detected two novel missense mutations in the boy and his sister, i.e., compound heterozygous mutations in exon 7 and exon 13
26032686 Extrinsic expressing WT ATP7B reduced CuCl2-induced copper accumulation and enhanced cellular copper tolerance by accelerating copper excretion, which was selectively compromised by R778L and P992L mutations.
26004889 Wilson disease causing p.T788I, p.V1036I and p.R1038G-fsX83 mutations lead to functional deficiency in ATP7B protein.
More...

AA Sequence

MPEQERQITAREGASRKILSKLSLPTRAWEPAMKKSFAFDNVGYEGGLDGLGPSSQVATSTVRILGMTCQ      1 - 70
SCVKSIEDRISNLKGIISMKVSLEQGSATVKYVPSVVCLQQVCHQIGDMGFEASIAEGKAASWPSRSLPA     71 - 140
QEAVVKLRVEGMTCQSCVSSIEGKVRKLQGVVRVKVSLSNQEAVITYQPYLIQPEDLRDHVNDMGFEAAI    141 - 210
KSKVAPLSLGPIDIERLQSTNPKRPLSSANQNFNNSETLGHQGSHVVTLQLRIDGMHCKSCVLNIEENIG    211 - 280
QLLGVQSIQVSLENKTAQVKYDPSCTSPVALQRAIEALPPGNFKVSLPDGAEGSGTDHRSSSSHSPGSPP    281 - 350
RNQVQGTCSTTLIAIAGMTCASCVHSIEGMISQLEGVQQISVSLAEGTATVLYNPSVISPEELRAAIEDM    351 - 420
GFEASVVSESCSTNPLGNHSAGNSMVQTTDGTPTSVQEVAPHTGRLPANHAPDILAKSPQSTRAVAPQKC    421 - 490
FLQIKGMTCASCVSNIERNLQKEAGVLSVLVALMAGKAEIKYDPEVIQPLEIAQFIQDLGFEAAVMEDYA    491 - 560
GSDGNIELTITGMTCASCVHNIESKLTRTNGITYASVALATSKALVKFDPEIIGPRDIIKIIEEIGFHAS    561 - 630
LAQRNPNAHHLDHKMEIKQWKKSFLCSLVFGIPVMALMIYMLIPSNEPHQSMVLDHNIIPGLSILNLIFF    631 - 700
ILCTFVQLLGGWYFYVQAYKSLRHRSANMDVLIVLATSIAYVYSLVILVVAVAEKAERSPVTFFDTPPML    701 - 770
FVFIALGRWLEHLAKSKTSEALAKLMSLQATEATVVTLGEDNLIIREEQVPMELVQRGDIVKVVPGGKFP    771 - 840
VDGKVLEGNTMADESLITGEAMPVTKKPGSTVIAGSINAHGSVLIKATHVGNDTTLAQIVKLVEEAQMSK    841 - 910
APIQQLADRFSGYFVPFIIIMSTLTLVVWIVIGFIDFGVVQRYFPNPNKHISQTEVIIRFAFQTSITVLC    911 - 980
IACPCSLGLATPTAVMVGTGVAAQNGILIKGGKPLEMAHKIKTVMFDKTGTITHGVPRVMRVLLLGDVAT    981 - 1050
LPLRKVLAVVGTAEASSEHPLGVAVTKYCKEELGTETLGYCTDFQAVPGCGIGCKVSNVEGILAHSERPL   1051 - 1120
SAPASHLNEAGSLPAEKDAVPQTFSVLIGNREWLRRNGLTISSDVSDAMTDHEMKGQTAILVAIDGVLCG   1121 - 1190
MIAIADAVKQEAALAVHTLQSMGVDVVLITGDNRKTARAIATQVGINKVFAEVLPSHKVAKVQELQNKGK   1191 - 1260
KVAMVGDGVNDSPALAQADMGVAIGTGTDVAIEAADVVLIRNDLLDVVASIHLSKRTVRRIRINLVLALI   1261 - 1330
YNLVGIPIAAGVFMPIGIVLQPWMGSAAMAASSVSVVLSSLQLKCYKKPDLERYEAQAHGHMKPLTASQV   1331 - 1400
SVHIGMDDRWRDSPRATPWDQVSYVSQVSLSSLTSDKPSRHSAAADDDGDKWSLLLNGRDEEQYI        1401 - 1465
//

Text Mined References (271)

PMID Year Title
26829729 2016 [Mutation analysis of 35 Wilson's disease pedigrees].
26797276 2016 Copper binding triggers compaction in N-terminal tail of human copper pump ATP7B.
26782526 2015 Analysis and application of ATP7B gene mutations in 35 patients with hepatolenticular degeneration.
26483271 2016 Targeted next-generation sequencing of the ATP7B gene for molecular diagnosis of Wilson disease.
26253413 2015 Novel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson's disease.
26215059 2015 Clinical and genetic analysis of pediatric patients with Wilson disease.
26207595 2016 Geographic distribution of ATP7B mutations in Wilson disease.
26182283 2015 [A young boy with elevated aminotransferases in physical examination--Two novel missense mutations associated with Wilson's disease were found].
26032686 2015 Defective roles of ATP7B missense mutations in cellular copper tolerance and copper excretion.
26004889 2015 Functional characterization of new mutations in Wilson disease gene (ATP7B) using the yeast model.
More...