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Bbs10 Gene Detail
Summary
  • Symbol
    Bbs10
  • Name
    Bardet-Biedl syndrome 10 (human)
  • Synonyms
    1300007O09Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919019
    NCBI Gene: 71769
  • Gene Overview
    MyGene.info: BBS10
Location & Maps
more
  • Sequence Map
    Chr10:111298679-111301736 bp, + strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      3058 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    BBS10, Bardet-Biedl syndrome 10
  • Vertebrate Orthologs
    10
  • Human Ortholog
    BBS10, Bardet-Biedl syndrome 10
    Orthology source: HGNC, HomoloGene
  • Synonyms
    C12orf58
  • Links
    NCBI Gene ID: 79738
    neXtProt AC: NX_Q8TAM1

  • Chr Location
    12q21.2; chr12:76344486-76348442 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 49781
    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: BBS10
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human BBS10 associations

Human Disease Mouse Models
       Bardet-Biedl Syndrome 10; BBS10   OMIM: 615987
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    2 phenotypes from 1 allele in 1 genetic background
    11 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
    5
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Targeted
    3
  • Genomic Mutations
    1 involving Bbs10
  • Incidental Mutations
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
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 71769 NCBI Gene Model | MGI Sequence Detail 3058 C57BL/6J ±  kb
transcript NM_027914 RefSeq | MGI Sequence Detail 2753 C57BL/6  
polypeptide Q9DBI2 UniProt | EBI | MGI Sequence Detail 713 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    96 from dbSNP Build 142
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000004664 Bardet-Biedl syndrome 10 protein
  • InterPro Domains
    IPR002423 Chaperonin Cpn60/TCP-1 family
    IPR027413 GroEL-like equatorial domain
Molecular
Reagents
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  • All nucleic 8
    cDNA 8

    Microarray probesets 4
Other
Accession IDs
less
MGI:2143615
References
more
  • Summaries
    All 30
    Gene Ontology 4
    Phenotypes 11
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory