Gene Information

Gene Information
Gene Name	PWD
Organism	Homo sapiens (Human)
Gene Length	1465
Protein Names	Copper-transporting ATPase 2 (EC 7.2.2.8) (Copper pump 2) (Wilson disease-associated protein) [Cleaved into: WND/140 kDa]
Target Name	NA
Target Type	NA
Gene Age	NA
Evolutionary Stage	NA
AlphaFoldDB	P35670
Gene Card	ATP7B
Uniprot ID	P35670
Pfam	PF00403
In ASD	no
Allosteric Prediction	NA
Ortholog in Animals	NA
Ohnologs	NA
Paralogs	NA
Tissue	NA
Tissue Specificity	Most abundant in liver and kidney and also found in brain. Isoform 2 is expressed in brain but not in liver. The cleaved form WND/140 kDa is found in liver cell lines and other tissues.
Pharmacological Animal Models	0.000730(Chimpanzee);0.001000(Mouse);NULL(Rat);NULL(Rabbit)
Gene Ontology (biological process)
Gene Ontology (cellular component)
Gene Ontology (molecular function)
PDB	2ARF (NMR - ) 2EW9 (NMR - ) 2KOY (NMR - ) 2LQB (NMR - ) 2N7Y (NMR - ) 2ROP (NMR - ) 6A71 (X-ray 1.60A ) 6A72 (X-ray 2.10A )
DBSNP	rs587783319 rs201738967 rs1566605396 rs786204643 rs1429553821 rs1566603189 rs557577836 rs373762572 rs551275663 rs774102085 rs770903362 rs1801243 rs587783298 rs1801244 rs1282624946 rs1566580253 rs138427376 rs572122562 rs187046823 rs778475094 rs797045402 rs1566559224 rs760501309 rs1173050016 rs376565432 rs752850609 rs374172791 rs587783299 rs200728096 rs186924074 rs72552285 rs121907998 rs372436901 rs72552259 rs1555291809 rs121908001 rs1212479289 rs767218895 rs121908000 rs1555291285 rs137853285 rs1394999756 rs1394999756 rs756883878 rs765667658 rs773447981 rs770533110 rs1593726081 rs1362773192 rs766907687 rs1555291147 rs28942075 rs28942075 rs121907997 rs121907997 rs772595172 rs193922103 rs1217463955 rs137853284 rs28942074 rs28942074 rs137853284 rs751798708 rs541408630 rs751710854 rs368589213 rs539585071 rs1061472 rs773809011 rs768671894 rs1057520235 rs191312027 rs376355660 rs121907994 rs587783304 rs786204718 rs483352684 rs540935874 rs121907993 rs121907993 rs1230241288 rs1052485948 rs534960245 rs1555288410 rs750019452 rs367855110 rs1057517310 rs28942076 rs779323689 rs28942076 rs1169959260 rs732774 rs60003608 rs121907996 rs774028495 rs770340441 rs201061621 rs778163447 rs72552255 rs1038582488 rs750407121 rs1487547257 rs199623434 rs41292782 rs201038679 rs201038679 rs777791532 rs770782111 rs751078884 rs201497300 rs775055397 rs587783307 rs1414727042 rs747584649 rs747584649 rs772089544 rs755851188 rs371840514 rs776490710 rs1416453532 rs1555286628 rs1555286620 rs753594031 rs761147984 rs59959366 rs746485916 rs1412025509 rs778543794 rs764131178 rs587783309 rs374094065 rs376910645 rs1555286478 rs76151636 rs1423701688 rs1206016866 rs1286080173 rs1555285911 rs778825095 rs1397083296 rs1555285891 rs761632029 rs786204483 rs560952220 rs764041557 rs775541743 rs541208827 rs759109027 rs182659444 rs1801249 rs778749563 rs587783313 rs1213481140 rs60431989 rs1566462533 rs755554442 rs377297166 rs1330620114 rs867107727 rs777879359 rs1555285311 rs749085322 rs756029120 rs1318758433 rs137853279 rs1387431334 rs587783315 rs786204547 rs7334118 rs1555284582 rs776280797 rs193922107 rs1486594906 rs200911496 rs568009639 rs374628199 rs1277243795 rs587783316 rs372042739 rs1555283946 rs769484789 rs1566444586 rs121907992 rs1555283916 rs1314712150 rs121907990 rs758355520 rs778914828 rs755202606 rs762866453 rs373748155 rs776300396 rs1340942427 rs199821556 rs148399850 rs753044473 rs377144951 rs749380700 rs753330854 rs1333619338 rs1131691741 rs779494870 rs587783317 rs587783317 rs587783318 rs1388795855 rs1160679283 rs1555282751 rs759551693 rs776848753 rs749171049 rs1555282678 rs780811477 rs780811477 rs1365425480 rs181250704 rs587783320 rs375692175 rs60986317
Subcellular location [CC]	Golgi apparatus, trans-Golgi network membrane {ECO:0000269\|PubMed:17919502, ECO:0000269\|PubMed:19033537, ECO:0000269\|PubMed:22240481, ECO:0000269\|PubMed:24706876}; Multi-pass membrane protein {ECO:0000255}. Late endosome {ECO:0000269\|PubMed:11231950, ECO:0000269\|PubMed:15681833}. Note=Predominantly found in the trans-Golgi network (TGN). Localized in the trans-Golgi network under low copper conditions, redistributes to cytoplasmic vesicles when cells are exposed to elevated copper levels, and then recycles back to the trans-Golgi network when copper is removed (PubMed:10942420). {ECO:0000269\|PubMed:10942420, ECO:0000269\|PubMed:22240481, ECO:0000269\|PubMed:24706876, ECO:0000269\|PubMed:9307043}.; [Isoform 1]: Golgi apparatus membrane {ECO:0000269\|PubMed:9307043}; Multi-pass membrane protein {ECO:0000269\|PubMed:9307043}.; [Isoform 2]: Cytoplasm {ECO:0000269\|PubMed:9307043}.; [WND/140 kDa]: Mitochondrion {ECO:0000269\|PubMed:9600907}.
Mouse PG classification	NA
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