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Bbs4 Gene Detail
Summary
  • Symbol
    Bbs4
  • Name
    Bardet-Biedl syndrome 4
  • Synonyms
    D9Ertd464e
  • Feature Type
    protein coding gene
  • IDs
    MGI:2143311
    NCBI Gene: 102774
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:59229273-59260791 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 32.01 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    178 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2143311
 protein coding gene Chr9:59229249-59260791 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034898
 protein coding gene Chr9:58642500-58679999 (-)
A/J MGP_AJ_G0034879
 protein coding gene Chr9:56748146-56782170 (-)
AKR/J MGP_AKRJ_G0034808
 protein coding gene Chr9:58063341-58096679 (-)
BALB/cJ MGP_BALBcJ_G0034871
 protein coding gene Chr9:56509050-56541656 (-)
C3H/HeJ MGP_C3HHeJ_G0034581
 protein coding gene Chr9:58565050-58597711 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035390
 protein coding gene Chr9:60277084-60314491 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032301
 protein coding gene Chr9:56542638-56571603 (-)
CAST/EiJ MGP_CASTEiJ_G0033902
 protein coding gene Chr9:58647314-58681830 (-)
CBA/J MGP_CBAJ_G0034552
 protein coding gene Chr9:62375689-62411613 (-)
DBA/2J MGP_DBA2J_G0034711
 protein coding gene Chr9:56584783-56617579 (-)
FVB/NJ MGP_FVBNJ_G0034653
 protein coding gene Chr9:55836451-55871491 (-)
LP/J MGP_LPJ_G0034794
 protein coding gene Chr9:58953222-58986045 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034696
 protein coding gene Chr9:63835169-63868121 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035412
 protein coding gene Chr9:58080089-58114147 (-)
PWK/PhJ MGP_PWKPhJ_G0033606
 protein coding gene Chr9:56652888-56685660 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033441
 protein coding gene Chr9:58351344-58384269 (-)
WSB/EiJ MGP_WSBEiJ_G0034015
 protein coding gene Chr9:58018197-58056729 (-)



Homology
more
  • Human Ortholog
    BBS4, Bardet-Biedl syndrome 4
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BBS4, Bardet-Biedl syndrome 4
  • Links
    NCBI Gene ID: 585
    neXtProt AC: NX_Q96RK4
    UniProt: Q96RK4

  • Chr Location
    15q24.1; chr15:72686179-72738475 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Bbs4 mouse models; 3 with human BBS4 associations

Human Disease Mouse Models
      
IDs
 View 5 models
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    82 phenotypes from 3 alleles in 6 genetic backgrounds
    1 phenotype from multigenic genotypes
    2 images
    47 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.
Homozygous null mice display partial embryonic lethality, low body weight before weaning, obesity and polyphagia after weaning, retinal degeneration, male infertility, absence of sperm cell flagella, renal abnormalities, impaired olfaction, and abnormal olfactory epithelium and neurons.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    110
  • GO References
    44
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
non-membrane-bounded 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
    779
  • Tissues
    48
  • cDNA Data
    52
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000025235 Ensembl Gene Model | MGI Sequence Detail 31519 C57BL/6J ±  kb
    transcript ENSMUST00000026265 Ensembl | MGI Sequence Detail 2518 Not Applicable  
    polypeptide ENSMUSP00000026265 Ensembl | MGI Sequence Detail 520 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 54
      cDNA 52
      Primer pair 2

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:1196340, MGI:2143342
    References
    more
    • Summaries
      All 101
      Developmental Gene Expression 3
      Diseases 5
      Gene Ontology 44
      Phenotypes 47
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • Latest
      J:329289 Xie C, et al., Reversal of ciliary mechanisms of disassembly rescues olfactory dysfunction in ciliopathies. JCI Insight. 2022 Aug 8;7(15):e158736
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory