ATP7B gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol ATP7B
Gene name ATPase, Cu++ transporting, beta polypeptide
Chromosome 13
Chromosomal band q14.3
Imprinted Unknown
Genomic reference NC_000013.10
Transcript reference NM_000053.3, NM_001005918.2, NM_001243182.1, XM_005266423.1, XM_005266424.1, XM_005266425.1, XM_005266426.1, XM_005266427.1, XM_005266428.1, XM_005266429.1, XM_005266430.1, XM_005266431.1, XM_005266432.1, XM_005266433.1, XM_005266434.1, XR_245388.1
Associated with diseases -
Citation reference(s) -
Curators (0) -
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 12, 2013

Links to other resources
HGNC 870
Entrez Gene 540
PubMed articles ATP7B
OMIM - Gene 606882
HGMD ATP7B
GeneCards ATP7B
GeneTests ATP7B


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000527 13 transcript variant X8 XM_005266430.1 XP_005266487.1 0
00000528 13 transcript variant X6 XM_005266428.1 XP_005266485.1 0
00000529 13 transcript variant X13 XR_245388.1 - 0
00000530 13 transcript variant 3 NM_001243182.1 NP_001230111.1 0
00000531 13 transcript variant 2 NM_001005918.2 NP_001005918.1 0
00000532 13 transcript variant 1 NM_000053.3 NP_000044.2 0
00000533 13 transcript variant X9 XM_005266431.1 XP_005266488.1 0
00000534 13 transcript variant X2 XM_005266424.1 XP_005266481.1 0
00000535 13 transcript variant X1 XM_005266423.1 XP_005266480.1 0
00000536 13 transcript variant X12 XM_005266434.1 XP_005266491.1 0
00000537 13 transcript variant X11 XM_005266433.1 XP_005266490.1 0
00000538 13 transcript variant X10 XM_005266432.1 XP_005266489.1 0
00000539 13 transcript variant X5 XM_005266427.1 XP_005266484.1 0
00000540 13 transcript variant X3 XM_005266425.1 XP_005266482.1 0
00000541 13 transcript variant X7 XM_005266429.1 XP_005266486.1 0
00000542 13 transcript variant X4 XM_005266426.1 XP_005266483.1 0


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Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium