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ATP7B

From SNPedia

is agene
is mentioned by
Full nameATPase, Cu++ transporting, beta polypeptide
EntrezGene540
PheGenI540
VariationViewer540
ClinVarATP7B
GeneCardsATP7B
dbSNP540
DiseasesATP7B
SADR540
HugeNav540
wikipediaATP7B
googleATP7B
gopubmedATP7B
EVSATP7B
HEFalMpATP7B
MyGene2ATP7B
23andMeATP7B
UniProtP35670
EnsemblENSG00000123191
OMIM606882
# SNPs147
 Max MagnitudeChromosome positionSummary
rs1057516227051,937,354
rs1057516228051,937,349
rs1057516305051,970,663
rs1057516380051,958,509
rs1057516418051,970,522
rs1057516425051,950,006
rs1057516479051,941,108
rs1057516516051,975,117
rs1057516561051,975,045
rs1057516643051,949,717
rs1057516732051,957,515
rs1057516740051,937,579
rs1057516844051,958,363
rs1057516893051,965,025
rs1057516940051,964,920
rs1057517024051,965,035
rs1057517141051,970,697
rs1057517191051,934,912
rs1057517233051,937,395
rs1057517310051,949,710
rs1057517351051,975,169
rs1057517384051,974,830
rs1057517444051,970,692
rs1057518867051,946,381
rs1057520235051,950,277
rs1060499593051,970,658
rs1061472051,950,352
rs1064796054051,946,443
rs1064797072051,944,116
rs1085307057051,958,517
rs121907990051,937,570
rs121907992051,937,583
rs121907993051,949,772
rs121907994051,950,116
rs121907996051,946,438
rs121907997051,958,369
rs121907998051,961,849
rs121907999051,974,355
rs121908000051,958,543
rs121908001051,960,198
rs137853279051,941,111
rs137853280051,965,034
rs137853281051,942,396
rs137853282051,958,329
rs137853283051,958,330
rs137853284051,958,334
rs137853285051,958,538
rs137853286051,942,398
rs137853287051,958,367
rs138427376051,968,544
... further results


ATP7B codes for a protein that transports copper out of cells. Varied defects (over 20 distinct mutations) in ATP7B are associated with Wilson's disease [PMID 15523622]. The specific mutation affects the ceruloplasmin level, severity, and age of onset [PMID 16283883].

More than 800 pathogenic variants have been identified (see the Wilson Disease Mutation Database), although less than 200 are currently listed in ClinVar, and many lack dbSNP rs-ids. The most frequent ATP7B pathogenic variants in two different populations are:

  • In Europeans: rs76151636, aka p.His1069Gln, occurring at a frequency of 26%-70% in Wilson patient populations and associated with neurologic or hepatic disease and a mean onset age of about 20 years.
  • In Asians: rs28942074, aka p.Arg778Leu, found at a frequency of about 10- 30% in all Chinese, Korean and Japanese Wilson patient populations studied.


Other mutations associated with Wilson's include:

  • p.Ala982Thr [PMID 24476933 ]
  • -36C-->T
  • Trp650ter
  • Gln914ter
  • 2810delT
  • Thr935Met
  • Arg1041Pro
  • Glu1173Lys
  • 1168A-->G (Ile390Val)
  • 2785A-->G (Ile929Val)
  • 3316G-->A (Val1106Ile)
  • Thr935Met. [PMID 11405812]

Arg778Leu and Thr935Met accounted for almost half of Chinese Wilson's patients in one study. [PMID 11405812]