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Bard1 Gene Detail
Summary
  • Symbol
    Bard1
  • Name
    BRCA1 associated RING domain 1
  • Synonyms
    ENSMUSG00000060893, ENSMUSG00000073653
  • Feature Type
    protein coding gene
  • IDs
    MGI:1328361
    NCBI Gene: 12021
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:71066694-71142300 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 35.67 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1728 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1328361
 protein coding gene Chr1:71066657-71142305 (-)
129S1/SvImJ MGP_129S1SvImJ_G0016124
 protein coding gene Chr1:71448547-71517898 (-)
A/J MGP_AJ_G0016107
 protein coding gene Chr1:68919272-68988971 (-)
AKR/J MGP_AKRJ_G0016064
 protein coding gene Chr1:70899785-70969431 (-)
BALB/cJ MGP_BALBcJ_G0016062
 protein coding gene Chr1:69034660-69105008 (-)
C3H/HeJ MGP_C3HHeJ_G0015893
 protein coding gene Chr1:71226522-71296848 (-)
C57BL/6NJ MGP_C57BL6NJ_G0016515
 protein coding gene Chr1:74190212-74262234 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014236
 protein coding gene Chr1:64637750-64706711 (-)
CAST/EiJ MGP_CASTEiJ_G0015477
 protein coding gene Chr1:70456614-70530640 (-)
CBA/J MGP_CBAJ_G0015866
 protein coding gene Chr1:76683390-76752310 (-)
DBA/2J MGP_DBA2J_G0015967
 protein coding gene Chr1:68317373-68390994 (-)
FVB/NJ MGP_FVBNJ_G0015970
 protein coding gene Chr1:67497437-67573596 (-)
LP/J MGP_LPJ_G0016039
 protein coding gene Chr1:72511739-72586408 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0015990
 protein coding gene Chr1:80189816-80268408 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0016562
 protein coding gene Chr1:70886459-70956452 (-)
PWK/PhJ MGP_PWKPhJ_G0015264
 protein coding gene Chr1:67732153-67803344 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015043
 protein coding gene Chr1:70296985-70370414 (-)
WSB/EiJ MGP_WSBEiJ_G0015539
 protein coding gene Chr1:70697918-70769864 (-)



Homology
more
  • Human Ortholog
    BARD1, BRCA1 associated RING domain 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BARD1, BRCA1 associated RING domain 1
  • Links
    NCBI Gene ID: 580
    neXtProt AC: NX_Q99728
    UniProt: Q99728

  • Chr Location
    2q35; chr2:214725646-214809683 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Bard1 mouse models; 2 with human BARD1 associations

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

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    17 phenotypes from 6 alleles in 6 genetic backgrounds
    8 phenotypes from multigenic genotypes
    21 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.
Mice homozygous for disruptions of this gene fail to develop past the egg cylinder stage. The phenotype is similar to that of mice with homozygous for disruptions in Brca1 or homozygous for disruptions in both Bard1 and Brca1.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    56
  • GO References
    17
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
    749
  • Tissues
    41
  • cDNA Data
    14
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12021 NCBI Gene Model | MGI Sequence Detail 75607 C57BL/6J ±  kb
    transcript NM_007525 RefSeq | MGI Sequence Detail 5448 Not Specified  
    polypeptide O70445 UniProt | EBI | MGI Sequence Detail 765 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 15
      cDNA 15

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:3642437, MGI:3642903
    References
    more
    • Summaries
      All 64
      Developmental Gene Expression 6
      Diseases 1
      Gene Ontology 17
      Phenotypes 21
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:348335 Georgieva D, et al., BRCA1 and 53BP1 regulate reprogramming efficiency by mediating DNA repair pathway choice at replication-associated double-strand breaks. Cell Rep. 2024 Apr 23;43(4):114006
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory