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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
rs1057516227
rs1057516228
rs1057516305
rs1057516380
rs1057516418
rs1057516425
rs1057516479
rs1057516516
rs1057516561
rs1057516643
rs1057516732
rs1057516740
rs1057516844
rs1057516893
rs1057516940
rs1057517024
rs1057517141
rs1057517191
rs1057517233
rs1057517310
rs1057517351
rs1057517384
rs1057517444
rs1057518867
rs1057520235
rs1060499593
rs1061472051,950,352
rs1064796054
rs1064797072
rs1085307057
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]