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Bbs2 Gene Detail
Summary
  • Symbol
    Bbs2
  • Name
    Bardet-Biedl syndrome 2
  • Synonyms
    2410125H22Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2135267
    NCBI Gene: 67378
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:94794582-94825556 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 46.14 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1018 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2135267
 protein coding gene Chr8:94794580-94825997 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033953
 protein coding gene Chr8:95457816-95488679 (-)
A/J MGP_AJ_G0033936
 protein coding gene Chr8:91748255-91779126 (-)
AKR/J MGP_AKRJ_G0033862
 protein coding gene Chr8:94270691-94301556 (-)
BALB/cJ MGP_BALBcJ_G0033928
 protein coding gene Chr8:91836504-91868865 (-)
C3H/HeJ MGP_C3HHeJ_G0033638
 protein coding gene Chr8:94968829-95001326 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034449
 protein coding gene Chr8:98950920-98982730 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031390
 protein coding gene Chr8:85550128-85586277 (-)
CAST/EiJ MGP_CASTEiJ_G0032970
 protein coding gene Chr8:94545107-94584900 (-)
CBA/J MGP_CBAJ_G0033614
 protein coding gene Chr8:102232689-102266300 (-)
DBA/2J MGP_DBA2J_G0033768
 protein coding gene Chr8:91215245-91246603 (-)
FVB/NJ MGP_FVBNJ_G0033715
 protein coding gene Chr8:90183824-90215087 (-)
LP/J MGP_LPJ_G0033860
 protein coding gene Chr8:95608423-95639269 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033757
 protein coding gene Chr8:104518943-104563143 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034467
 protein coding gene Chr8:94414792-94448303 (-)
PWK/PhJ MGP_PWKPhJ_G0032672
 protein coding gene Chr8:90575076-90798455 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032509
 protein coding gene Chr8:93236502-93267634 (-)
WSB/EiJ MGP_WSBEiJ_G0033082
 protein coding gene Chr8:94928428-94962971 (-)



Homology
more
  • Human Ortholog
    BBS2, Bardet-Biedl syndrome 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BBS2, Bardet-Biedl syndrome 2
  • Synonyms
    BBS, RP74
  • Links
    NCBI Gene ID: 583
    neXtProt AC: NX_Q9BXC9
    UniProt: Q9BXC9

  • Chr Location
    16q13; chr16:56465640-56582667 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Bbs2 mouse models; 4 with human BBS2 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    44 phenotypes from 3 alleles in 4 genetic backgrounds
    1 phenotype from multigenic genotypes
    3 images
    23 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 obesity associated with polyphagia, retinopathy associated with mislocalization of rhodopsin, cilia defects, renal cysts, male sterility, abnormal brain neuroanatomy, reduced salivation and acoustic startle response, an olfactory deficit and abnormal social interaction.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    51
  • GO References
    25
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
    799
  • Tissues
    38
  • cDNA Data
    23
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031755 Ensembl Gene Model | MGI Sequence Detail 30975 C57BL/6J ±  kb
    transcript ENSMUST00000034206 Ensembl | MGI Sequence Detail 3064 Not Applicable  
    polypeptide ENSMUSP00000034206 Ensembl | MGI Sequence Detail 721 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000004666 Bardet-Biedl syndrome 2 protein
      (term hierarchy)
    • InterPro Domains
      IPR016616 Bardet-Biedl syndrome 2 protein
      IPR029333 Ciliary BBSome complex subunit 2, C-terminal domain
      IPR029429 Ciliary BBSome complex subunit 2, middle region
      IPR029430 Ciliary BBSome complex subunit 2, N-terminal
      IPR036322 WD40-repeat-containing domain superfamily
    • GlyGen
      Q9CWF6 2 sites, 2 N-linked glycans (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 25
      cDNA 24
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1914628, MGI:2142541
    References
    more
    • Summaries
      All 66
      Developmental Gene Expression 5
      Diseases 2
      Gene Ontology 25
      Phenotypes 23
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory