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Bbs4 Gene Detail
Summary
  • Symbol
    Bbs4
  • Name
    Bardet-Biedl syndrome 4 (human)
  • Synonyms
    D9Ertd464e
  • Feature Type
    protein coding gene
  • IDs
    MGI:2143311
    NCBI Gene: 102774
  • Gene Overview
    MyGene.info: BBS4
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr9:59321990-59353508 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      31519 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 32.01 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    BBS4, Bardet-Biedl syndrome 4
  • Vertebrate Orthologs
    10
  • Human Ortholog
    BBS4, Bardet-Biedl syndrome 4
    Orthology source: HomoloGene, HGNC
  • Links
    NCBI Gene ID: 585
    neXtProt AC: NX_Q96RK4
    UniProt: Q96RK4

  • Chr Location
    15q24.1; chr15:72686179-72738476 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 13197
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: BBS4
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Bbs4 mouse models; 2 with human BBS4 associations

Human Disease Mouse Models
      
IDs
View 4 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
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    70 phenotypes from 3 alleles in 5 genetic backgrounds
    1 phenotype from multigenic genotypes
    2 images
    35 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
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    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
    Polymorphisms
    less
    • SNPs within 2kb
      178 from dbSNP Build 142
    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 81
      Developmental Gene Expression 3
      Diseases 4
      Gene Ontology 35
      Phenotypes 35
    • 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:246522 Goetz SC, et al., The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling. PLoS One. 2017;12(3):e0173399

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    07/10/2018
    MGI 6.12
    The Jackson Laboratory