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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
Location & Maps
more
  • Sequence Map
    Chr9:59321966-59353508 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      31543 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    BBS4, Bardet-Biedl syndrome 4
  • Vertebrate Orthologs
    10
  • Human Ortholog
    BBS4, Bardet-Biedl syndrome 4
    Orthology source: HomoloGene
  • Links
    NCBI Gene ID: 585
    neXtProt AC: NX_Q96RK4

  • Chr Location
    15q22.3-q23; chr15:72686179-72738476 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 13197
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • 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
       Bardet-Biedl Syndrome 4; BBS4   OMIM: 615982 View 4 models
       Obesity   OMIM: 601665 View 1 model
       Bardet-Biedl Syndrome 1; BBS1   OMIM: 209900
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
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  • Phenotype Summary
    71 phenotypes from 3 alleles in 5 genetic backgrounds
    1 phenotype from multigenic genotypes
    2 images
    33 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    10
  • Gene trapped
    4
  • Targeted
    4
  • Transgenic
    2
  • Incidental Mutations
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
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 102774 NCBI Gene Model | MGI Sequence Detail 31543 C57BL/6J ±  kb
transcript NM_175325 RefSeq | MGI Sequence Detail 2542 C57BL/6  
polypeptide Q8C1Z7 UniProt | EBI | MGI Sequence Detail 520 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    178 from dbSNP Build 142
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000004667 Bardet-Biedl syndrome 4 protein
  • InterPro Domains
    IPR028786 Bardet-Biedl syndrome 4 protein
    IPR011990 Tetratricopeptide-like helical domain
    IPR019734 Tetratricopeptide repeat
    IPR013105 Tetratricopeptide repeat 2
    IPR013026 Tetratricopeptide repeat-containing domain
Molecular
Reagents
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  • All nucleic 53
    cDNA 51
    Primer pair 2

    Microarray probesets 7
Other
Accession IDs
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MGI:1196340, MGI:2143342
References
more
  • Summaries
    All 73
    Developmental Gene Expression 2
    Diseases 5
    Gene Ontology 33
    Phenotypes 33
  • 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:224863 Starks RD, et al., Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins. PLoS Genet. 2015 Jun;11(6):e1005311

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
04/26/2016
MGI 6.03
The Jackson Laboratory