| Gene ID | 540 |
| Symbol | ATP7B |
| Synonymous | PWD|WC1|WD|WND |
| Full name | ATPase, Cu++ transporting, beta polypeptide |
| Gene description | ATPase, Cu(2+)- transporting, beta polypeptide|Wilson disease-associated protein|copper pump 2|copper-transporting ATPase 2 |
| Cytoband | 13q14.3 |
| Gene type | protein-coding |
| Synonymous | MIM:606882; HGNC:HGNC:870; Ensembl:ENSG00000123191; HPRD:06050; Vega:OTTHUMG00000017406 |
Pathways and Diseases | Detail |
|---|---|
Pathway | copper transport II;BioCyc;PWY-6137 |
Disease | METABOLIC;GAD |
Disease | Carcinoma;FunDO |
Disease | Encephalopathies;FunDO |
Disease | Genetic disorders;KEGG DISEASE |
Disease | Wilson disease;GAD |
Disease | Wilson disease;OMIM |
Disease | Congenital abnormality;FunDO |
Disease | Ovarian cancer;FunDO |
Disease | Inherited disorders of ion transport and metabolism;KEGG DISEASE |
Disease | Wilson disease;KEGG DISEASE;H00210 |
Disease | Liver disease;FunDO |
Disease | Copper metabolism disorder;FunDO |
Disease | Movement disorder;FunDO |
Disease | arylsulfatase A pseudodeficiency;GAD |
Disease | liver disease;GAD |
Sequence Information | |
|---|---|
Nucleotide Sequence | >540 : length: 6980 GCAACTTTGAATCATCCGTGTGAAGAGGGCTGCGGCTTCCCCGGTCCCAAATGAAGGGGCGGTTCCCGGACCCCTGTTTGCTTTAGAGCCGAGCCGCGCCGATGCCCTCACACTCTGCGC CTCCTCTCCCGGGACTTTAACACCCCGCTCTCCTCCACCGACCAGGTGACCTTTTGCTCTGAGCCAGATCAGAGAAGAATTCGGTGTCCGTGCGGGACGATGCCTGAGCAGGAGAGACAG ATCACAGCCAGAGAAGGGGCCAGTCGGAAAATCTTATCTAAGCTTTCTTTGCCTACCCGTGCCTGGGAACCAGCAATGAAGAAGAGTTTTGCTTTTGACAATGTTGGCTATGAAGGTGGT CTGGATGGCCTGGGCCCTTCTTCTCAGGTGGCCACCAGCACAGTCAGGATCTTGGGCATGACTTGCCAGTCATGTGTGAAGTCCATTGAGGACAGGATTTCCAATTTGAAAGGCATCATC AGCATGAAGGTTTCCCTGGAACAAGGCAGTGCCACTGTGAAATATGTGCCATCGGTTGTGTGCCTGCAACAGGTTTGCCATCAAATTGGGGACATGGGCTTCGAGGCCAGCATTGCAGAA GGAAAGGCAGCCTCCTGGCCCTCAAGGTCCTTGCCTGCCCAGGAGGCTGTGGTCAAGCTCCGGGTGGAGGGCATGACCTGCCAGTCCTGTGTCAGCTCCATTGAAGGCAAGGTCCGGAAA CTGCAAGGAGTAGTGAGAGTCAAAGTCTCACTCAGCAACCAAGAGGCCGTCATCACTTATCAGCCTTATCTCATTCAGCCCGAAGACCTCAGGGACCATGTAAATGACATGGGATTTGAA GCTGCCATCAAGAGCAAAGTGGCTCCCTTAAGCCTGGGACCAATTGATATTGAGCGGTTACAAAGCACTAACCCAAAGAGACCTTTATCTTCTGCTAACCAGAATTTTAATAATTCTGAG ACCTTGGGGCACCAAGGAAGCCATGTGGTCACCCTCCAACTGAGAATAGATGGAATGCATTGTAAGTCTTGCGTCTTGAATATTGAAGAAAATATTGGCCAGCTCCTAGGGGTTCAAAGT ATTCAAGTGTCCTTGGAGAACAAAACTGCCCAAGTAAAGTATGACCCTTCTTGTACCAGCCCAGTGGCTCTGCAGAGGGCTATCGAGGCACTTCCACCTGGGAATTTTAAAGTTTCTCTT CCTGATGGAGCCGAAGGGAGTGGGACAGATCACAGGTCTTCCAGTTCTCATTCCCCTGGCTCCCCACCGAGAAACCAGGTCCAGGGCACATGCAGTACCACTCTGATTGCCATTGCCGGC ATGACCTGTGCATCCTGTGTCCATTCCATTGAAGGCATGATCTCCCAACTGGAAGGGGTGCAGCAAATATCGGTGTCTTTGGCCGAAGGGACTGCAACAGTTCTTTATAATCCCTCTGTA ATTAGCCCAGAAGAACTCAGAGCTGCTATAGAAGACATGGGATTTGAGGCTTCAGTCGTTTCTGAAAGCTGTTCTACTAACCCTCTTGGAAACCACAGTGCTGGGAATTCCATGGTGCAA ACTACAGATGGTACACCTACATCTGTGCAGGAAGTGGCTCCCCACACTGGGAGGCTCCCTGCAAACCATGCCCCGGACATCTTGGCAAAGTCCCCACAATCAACCAGAGCAGTGGCACCG CAGAAGTGCTTCTTACAGATCAAAGGCATGACCTGTGCATCCTGTGTGTCTAACATAGAAAGGAATCTGCAGAAAGAAGCTGGTGTTCTCTCCGTGTTGGTTGCCTTGATGGCAGGAAAG GCAGAGATCAAGTATGACCCAGAGGTCATCCAGCCCCTCGAGATAGCTCAGTTCATCCAGGACCTGGGTTTTGAGGCAGCAGTCATGGAGGACTACGCAGGCTCCGATGGCAACATTGAG CTGACAATCACAGGGATGACCTGCGCGTCCTGTGTCCACAACATAGAGTCCAAACTCACGAGGACAAATGGCATCACTTATGCCTCCGTTGCCCTTGCCACCAGCAAAGCCCTTGTTAAG TTTGACCCGGAAATTATCGGTCCACGGGATATTATCAAAATTATTGAGGAAATTGGCTTTCATGCTTCCCTGGCCCAGAGAAACCCCAACGCTCATCACTTGGACCACAAGATGGAAATA AAGCAGTGGAAGAAGTCTTTCCTGTGCAGCCTGGTGTTTGGCATCCCTGTCATGGCCTTAATGATCTATATGCTGATACCCAGCAACGAGCCCCACCAGTCCATGGTCCTGGACCACAAC ATCATTCCAGGACTGTCCATTCTAAATCTCATCTTCTTTATCTTGTGTACCTTTGTCCAGCTCCTCGGTGGGTGGTACTTCTACGTTCAGGCCTACAAATCTCTGAGACACAGGTCAGCC AACATGGACGTGCTCATCGTCCTGGCCACAAGCATTGCTTATGTTTATTCTCTGGTCATCCTGGTGGTTGCTGTGGCTGAGAAGGCGGAGAGGAGCCCTGTGACATTCTTCGACACGCCC CCCATGCTCTTTGTGTTCATTGCCCTGGGCCGGTGGCTGGAACACTTGGCAAAGAGCAAAACCTCAGAAGCCCTGGCTAAACTCATGTCTCTCCAAGCCACAGAAGCCACCGTTGTGACC CTTGGTGAGGACAATTTAATCATCAGGGAGGAGCAAGTCCCCATGGAGCTGGTGCAGCGGGGCGATATCGTCAAGGTGGTCCCTGGGGGAAAGTTTCCAGTGGATGGGAAAGTCCTGGAA GGCAATACCATGGCTGATGAGTCCCTCATCACAGGAGAAGCCATGCCAGTCACTAAGAAACCCGGAAGCACTGTAATTGCGGGGTCTATAAATGCACATGGCTCTGTGCTCATTAAAGCT ACCCACGTGGGCAATGACACCACTTTGGCTCAGATTGTGAAACTGGTGGAAGAGGCTCAGATGTCAAAGGCACCCATTCAGCAGCTGGCTGACCGGTTTAGTGGATATTTTGTCCCATTT ATCATCATCATGTCAACTTTGACGTTGGTGGTATGGATTGTAATCGGTTTTATCGATTTTGGTGTTGTTCAGAGATACTTTCCTAACCCCAACAAGCACATCTCCCAGACAGAGGTGATC ATCCGGTTTGCTTTCCAGACGTCCATCACGGTGCTGTGCATTGCCTGCCCCTGCTCCCTGGGGCTGGCCACGCCCACGGCTGTCATGGTGGGCACCGGGGTGGCCGCGCAGAACGGCATC CTCATCAAGGGAGGCAAGCCCCTGGAGATGGCGCACAAGATAAAGACTGTGATGTTTGACAAGACTGGCACCATTACCCATGGCGTCCCCAGGGTCATGCGGGTGCTCCTGCTGGGGGAT GTGGCCACACTGCCCCTCAGGAAGGTTCTGGCTGTGGTGGGGACTGCGGAGGCCAGCAGTGAACACCCCTTGGGCGTGGCAGTCACCAAATACTGTAAAGAGGAACTTGGAACAGAGACC TTGGGATACTGCACGGACTTCCAGGCAGTGCCAGGCTGTGGAATTGGGTGCAAAGTCAGCAACGTGGAAGGCATCCTGGCCCACAGTGAGCGCCCTTTGAGTGCACCGGCCAGTCACCTG AATGAGGCTGGCAGCCTTCCCGCAGAAAAAGATGCAGTCCCCCAGACCTTCTCTGTGCTGATTGGAAACCGTGAGTGGCTGAGGCGCAACGGTTTAACCATTTCTAGCGATGTCAGTGAC GCTATGACAGACCACGAGATGAAAGGACAGACAGCCATCCTGGTGGCTATTGACGGTGTGCTCTGTGGGATGATCGCAATCGCAGACGCTGTCAAGCAGGAGGCTGCCCTGGCTGTGCAC ACGCTGCAGAGCATGGGTGTGGACGTGGTTCTGATCACGGGGGACAACCGGAAGACAGCCAGAGCTATTGCCACCCAGGTTGGCATCAACAAAGTCTTTGCAGAGGTGCTGCCTTCGCAC AAGGTGGCCAAGGTCCAGGAGCTCCAGAATAAAGGGAAGAAAGTCGCCATGGTGGGGGATGGGGTCAATGACTCCCCGGCCTTGGCCCAGGCAGACATGGGTGTGGCCATTGGCACCGGC ACGGATGTGGCCATCGAGGCAGCCGACGTCGTCCTTATCAGAAATGATTTGCTGGATGTGGTGGCTAGCATTCACCTTTCCAAGAGGACTGTCCGAAGGATACGCATCAACCTGGTCCTG GCACTGATTTATAACCTGGTTGGGATACCCATTGCAGCAGGTGTCTTCATGCCCATCGGCATTGTGCTGCAGCCCTGGATGGGCTCAGCGGCCATGGCAGCCTCCTCTGTGTCTGTGGTG CTCTCATCCCTGCAGCTCAAGTGCTATAAGAAGCCTGACCTGGAGAGGTATGAGGCACAGGCGCATGGCCACATGAAGCCCCTGACGGCATCCCAGGTCAGTGTGCACATAGGCATGGAT GACAGGTGGCGGGACTCCCCCAGGGCCACACCATGGGACCAGGTCAGCTATGTCAGCCAGGTGTCGCTGTCCTCCCTGACGTCCGACAAGCCATCTCGGCACAGCGCTGCAGCAGACGAT GATGGGGACAAGTGGTCTCTGCTCCTGAATGGCAGGGATGAGGAGCAGTACATCTGATGACTTCAGGCAGGCGGGCCGGGGCAGGGACTTGCCTCCACTCACCACAAGCTGAGCAGGACA GCCAGCAGCAGGATGGGCTGAGCTAGCCTCCAGCTTTGGGGACTTCCGCTCCCTGGATATGTCCAGTCATCCTGCCCTGCAGCACGCGGCCTTGTCTGGGTGCAGCTGGGCTTGGCCTGG AGAGGACGGCCCTGCCTGCCTCTTGGCCTCACGGGACCGTCAGCATGGGCTTTGTCTTGGACTCTAGTCCTTGGCTGGACTGTAGAAGGTGAGAGGCGAGTCACCCTCCTCACAGACCTC TGCTTGGAGTATTTAGGATGACTGCTGTGAAATGGAGAACAGTTTCATCAGGACCAAAAAACCTCACTGGGCCTTTCCAGAGAACTGCAGACCTCACTGTCAGGGTCTTTCTGATGACGC CTGTCTGTGTGCATCATGTTTCTGAGACCACAGTTTACCTCAGGTGTGCCTGTTGCTTTCTTCCTGCATAGTCTGTTCCTTTCTTCGTACATAGTCTGTTCCTTTTCTCTCCTGTGTGCT TGTCAGTGGGGACCCCTCGCAACCCTGCCTGTCACCTGGGAGGGTGGGACCAATGTCCTTGTGGTCTTTGCTGCTGCTCTCAGGCGCTTCTCCAATGCTCTGGAGTGTGCATTTCAGCTT GAACCTGCTTCCTGGCTCACACATCCCCAGCCAGGGAGCTTGCCACACTCTTCTTCAAGTTGAGGAGAGTTCTTTTTTGCTTAAAGCCCCCTTCTCCATGGAGTGTTGGCTTCTCAATAG AGTGTTGTTGCTGACCAGCTGGAGTGAGGGCCTCAGAGCCTGACCTGAGAGTCCGTACTCGGCTTCCTGTGGGGTGTAGGTTCTCGCGATTCAGGACGTCCTTCCATATCCCTGCCCAGC CTGTGGTGCTTGAAACGTTTGCCCCATGGGAAACGTATGTGTGCAGGAGCCTCCCTGCACGGCCCAAGGGGCTTCGTTTTCAGTCTTCTGACTGTCACCTCGTGGGGTTCAGTAGAGAAT TCATGTGACTAGCGCCTGGCCTTGTGTGGCTTGGAGGAAATGGTACTGCCCAAATAGGAGGAAAACACAGCCTCCCTGAGCCTGCATTCTGCACGCTGCCCAGGGGCTTCAGAAAAGGAG TGGCCACAGCACCCCGAAGGGAGCATCTGTTTACCTGGCAGTGGCTCTCAGAGCAGCAGAACGGGTTCAGTTTTAGACTCTGAAGTTGGTTGTGATTGACAGAACCCTTTGGGAGCAAAC TAGTAGAGTTGGATTAAATTCTGGGTGAAACCCTTTTCTCCCACACAAAATAGTTTTAGTGATTTTTTTCATTGTCCATTACTTGCCAGGGGCAGTTTTAGCAGCACTTTTGATAGATTA CGTCTAATCCTCCCAACCAACCAGCAGGGTAGCTATTACTGTCCACATTTTACAGGCAAGGAAACAGGCTCCAAGAGGCTGAGGACTTTGCCCAGGATGACATAGCCAATGGACAAGCAG TGTCTGTCAGCTGTGAAGGCTTCACTCTTATTGTCCTTCTACCTTGAATAGAAGTTTTCCTGATAAGAATAAACGAGGAAAAGGTCCTTGCCTCCTGGAAGAACAAATCTACCAGGCCTG CCTCAGCGGCGTGTGGGGAGAACGCTGAAAGGCAGCTCCTGTCAAAGTCCCTGCCCCGCTGGATCGGACACAGGCTTAAATTACCGCATCGTTTGCACCCCTCTGTTCTAGGGAGTCTTG TGTCTTCTGACGGTGTACATGGAACTGCGGCAGACTAACTCCTGTCAAGGTGCTCATCTAAATCACCTGTGGGGTTTCAAAAATCCATACCTGCCTGGGTCCTACCCCAGTGATTCAGAT TCAGTATGTCTGGAGTGGAGCCCAGGTACCTGGGTTTCTTTAAGTTCTCTGAATTGTCCTGAGCACATGACCAACTGAGACCACTGTTCTCACAACAGTCAGACCCCCAAGCCGACCAAA CTGGCCAAGCTTCTGGCAAGGATCAGTGCACAGTTGGAAGTACTCAGCCGGGTTCTGGAGACACTGTAAGAAGACCGCTGCAGGGGTGCCTCATGGGAAGAGATGGACCTCCTCTGGTGG TCGCAACAGGCTTTGTCTGATAATCACAGCATCCCCCTCTCAGGGCATCCGGCTGGGTGCATGGGGCATGTGCACCGACAACTTGAACAACCTTCCCCAGAGGGCAGTGACTGCAGAACC AGGACCTGCCCTGAGCATTTTAGCCAGGCTGTGAGAGGGTGCCCTCTCCTGGACATGCTGCTGCTGCTCACATAGTTCCTTCACTTAAAACCAAGTCTCTGAAATGATAAGAAAACTTCA ATAATTATTCTAAAAACATA |
Protein Sequence | >540 : length: 1465 MPEQERQITAREGASRKILSKLSLPTRAWEPAMKKSFAFDNVGYEGGLDGLGPSSQVATSTVRILGMTCQSCVKSIEDRISNLKGIISMKVSLEQGSATVKYVPSVVCLQQVCHQIGDMG FEASIAEGKAASWPSRSLPAQEAVVKLRVEGMTCQSCVSSIEGKVRKLQGVVRVKVSLSNQEAVITYQPYLIQPEDLRDHVNDMGFEAAIKSKVAPLSLGPIDIERLQSTNPKRPLSSAN QNFNNSETLGHQGSHVVTLQLRIDGMHCKSCVLNIEENIGQLLGVQSIQVSLENKTAQVKYDPSCTSPVALQRAIEALPPGNFKVSLPDGAEGSGTDHRSSSSHSPGSPPRNQVQGTCST TLIAIAGMTCASCVHSIEGMISQLEGVQQISVSLAEGTATVLYNPSVISPEELRAAIEDMGFEASVVSESCSTNPLGNHSAGNSMVQTTDGTPTSVQEVAPHTGRLPANHAPDILAKSPQ STRAVAPQKCFLQIKGMTCASCVSNIERNLQKEAGVLSVLVALMAGKAEIKYDPEVIQPLEIAQFIQDLGFEAAVMEDYAGSDGNIELTITGMTCASCVHNIESKLTRTNGITYASVALA TSKALVKFDPEIIGPRDIIKIIEEIGFHASLAQRNPNAHHLDHKMEIKQWKKSFLCSLVFGIPVMALMIYMLIPSNEPHQSMVLDHNIIPGLSILNLIFFILCTFVQLLGGWYFYVQAYK SLRHRSANMDVLIVLATSIAYVYSLVILVVAVAEKAERSPVTFFDTPPMLFVFIALGRWLEHLAKSKTSEALAKLMSLQATEATVVTLGEDNLIIREEQVPMELVQRGDIVKVVPGGKFP VDGKVLEGNTMADESLITGEAMPVTKKPGSTVIAGSINAHGSVLIKATHVGNDTTLAQIVKLVEEAQMSKAPIQQLADRFSGYFVPFIIIMSTLTLVVWIVIGFIDFGVVQRYFPNPNKH ISQTEVIIRFAFQTSITVLCIACPCSLGLATPTAVMVGTGVAAQNGILIKGGKPLEMAHKIKTVMFDKTGTITHGVPRVMRVLLLGDVATLPLRKVLAVVGTAEASSEHPLGVAVTKYCK EELGTETLGYCTDFQAVPGCGIGCKVSNVEGILAHSERPLSAPASHLNEAGSLPAEKDAVPQTFSVLIGNREWLRRNGLTISSDVSDAMTDHEMKGQTAILVAIDGVLCGMIAIADAVKQ EAALAVHTLQSMGVDVVLITGDNRKTARAIATQVGINKVFAEVLPSHKVAKVQELQNKGKKVAMVGDGVNDSPALAQADMGVAIGTGTDVAIEAADVVLIRNDLLDVVASIHLSKRTVRR IRINLVLALIYNLVGIPIAAGVFMPIGIVLQPWMGSAAMAASSVSVVLSSLQLKCYKKPDLERYEAQAHGHMKPLTASQVSVHIGMDDRWRDSPRATPWDQVSYVSQVSLSSLTSDKPSR HSAAADDDGDKWSLLLNGRDEEQYI |