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Atp7b Gene Detail
Summary
  • Symbol
    Atp7b
  • Name
    ATPase, copper transporting, beta polypeptide
  • Synonyms
    Atp7a, Wilson protein, WND
  • Feature Type
    protein coding gene
  • IDs
    MGI:103297
    NCBI Gene: 11979
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:22482801-22550321 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 10.78 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2281 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103297
 protein coding gene Chr8:22482799-22550347 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033442
 protein coding gene Chr8:19827775-19900817 (-)
A/J MGP_AJ_G0033422
 protein coding gene Chr8:19182217-19253399 (-)
AKR/J MGP_AKRJ_G0033347
 protein coding gene Chr8:19812754-19880877 (-)
BALB/cJ MGP_BALBcJ_G0033418
 protein coding gene Chr8:19305644-19374421 (-)
C3H/HeJ MGP_C3HHeJ_G0033132
 protein coding gene Chr8:20004193-20074568 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033934
 protein coding gene Chr8:20670328-20751176 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030891
 protein coding gene Chr8:16521232-16592288 (-)
CAST/EiJ MGP_CASTEiJ_G0032458
 protein coding gene Chr8:19428987-19500260 (-)
CBA/J MGP_CBAJ_G0033107
 protein coding gene Chr8:21495306-21578114 (-)
DBA/2J MGP_DBA2J_G0033262
 protein coding gene Chr8:19157093-19224384 (-)
FVB/NJ MGP_FVBNJ_G0033206
 protein coding gene Chr8:18950675-19020079 (-)
LP/J MGP_LPJ_G0033351
 protein coding gene Chr8:19830262-19902685 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033249
 protein coding gene Chr8:21100203-21173747 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0033953
 protein coding gene Chr8:19704790-19779967 (-)
PWK/PhJ MGP_PWKPhJ_G0032170
 protein coding gene Chr8:18744202-18813509 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032003
 protein coding gene Chr8:19099089-19170506 (-)
WSB/EiJ MGP_WSBEiJ_G0032574
 protein coding gene Chr8:19903117-19976016 (-)



Homology
more
  • Human Ortholog
    ATP7B, ATPase copper transporting beta
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ATP7B, ATPase copper transporting beta
  • Synonyms
    PWD, WC1, WD, WND
  • Links
    NCBI Gene ID: 540
    neXtProt AC: NX_P35670
    UniProt: P35670

  • Chr Location
    13q14.3; chr13:51930436-52012132 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Atp7b mouse models; 1 with human ATP7B associations

Human Disease Mouse Models
      
IDs
 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    39 phenotypes from 4 alleles in 5 genetic backgrounds
    3 phenotypes from multigenic genotypes
    55 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Targeted disruption of the mouse gene results in copper accumulation in various organs, primarily the liver, kidney and brain, and a form of liver cirrhosis that resembles Wilson disease in humans and the 'toxic milk' phenotype in mice.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    61
  • GO References
    22
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    936
  • Tissues
    107
  • cDNA Data
    9
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000006567 Ensembl Gene Model | MGI Sequence Detail 67521 C57BL/6J ±  kb
    transcript ENSMUST00000006742 Ensembl | MGI Sequence Detail 6505 Not Applicable  
    polypeptide ENSMUSP00000006742 Ensembl | MGI Sequence Detail 1462 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 12
      cDNA 11
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-15308, MGD-MRK-24180
    References
    more
    • Summaries
      All 92
      Developmental Gene Expression 4
      Diseases 3
      Gene Ontology 22
      Phenotypes 55
    • Earliest
      J:7102 Rauch H, Toxic milk, a new mutation affecting cooper metabolism in the mouse. J Hered. 1983 May-Jun;74(3):141-4
    • Latest
      J:358246 Hao W, et al., Identification of lncRNA-miRNA-mRNA Networks in the Lenticular Nucleus Region of the Brain Contributes to Hepatolenticular Degeneration Pathogenesis and Therapy. Mol Neurobiol. 2024 Mar;61(3):1673-1686
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory