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Bbs9 Gene Detail
Summary
  • Symbol
    Bbs9
  • Name
    Bardet-Biedl syndrome 9
  • Synonyms
    E130103I17Rik, EST 3159894
  • Feature Type
    protein coding gene
  • IDs
    MGI:2442833
    NCBI Gene: 319845
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:22387011-22799576 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 9.17 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    10812 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2442833
 protein coding gene Chr9:22386819-22799579 (+)
129S1/SvImJ MGP_129S1SvImJ_G0034489
 protein coding gene Chr9:19795719-20215476 (+)
A/J MGP_AJ_G0034467
 protein coding gene Chr9:19391359-19813882 (+)
AKR/J MGP_AKRJ_G0034393
 protein coding gene Chr9:19788501-20199940 (+)
BALB/cJ MGP_BALBcJ_G0034458
 protein coding gene Chr9:19271965-19683426 (+)
C3H/HeJ MGP_C3HHeJ_G0034170
 protein coding gene Chr9:20097468-20529178 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034979
 protein coding gene Chr9:20591419-21044031 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031909
 protein coding gene Chr9:18492742-18899258 (+)
CAST/EiJ MGP_CASTEiJ_G0033492
 protein coding gene Chr9:19945238-20375341 (+)
CBA/J MGP_CBAJ_G0034143
 protein coding gene Chr9:21370930-21823711 (+)
DBA/2J MGP_DBA2J_G0034301
 protein coding gene Chr9:19359694-19771023 (+)
FVB/NJ MGP_FVBNJ_G0034244
 protein coding gene Chr9:18924451-19331979 (+)
LP/J MGP_LPJ_G0034387
 protein coding gene Chr9:19982971-20408070 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0034288
 protein coding gene Chr9:22943103-23375402 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034999
 protein coding gene Chr9:19744737-20180726 (+)
PWK/PhJ MGP_PWKPhJ_G0033198
 protein coding gene Chr9:19385720-19797133 (+)
SPRET/EiJ MGP_SPRETEiJ_G0033032
 protein coding gene Chr9:19797860-20225361 (+)
WSB/EiJ MGP_WSBEiJ_G0033608
 protein coding gene Chr9:19490220-19915737 (+)



Homology
more
  • Human Ortholog
    BBS9, Bardet-Biedl syndrome 9
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BBS9, Bardet-Biedl syndrome 9
  • Synonyms
    B1, C18, D1, PTHB1
  • Links
    NCBI Gene ID: 27241
    neXtProt AC: NX_Q3SYG4
    UniProt: Q3SYG4

  • Chr Location
    7p14.3; chr7:33109557-33877180 (+)  GRCh38
Human Diseases
more
  • Diseases
    4 with human BBS9 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 2 alleles in 2 genetic backgrounds
    10 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.
Mice homozygous for an ENU-induced allele exhibit abnormal pelvic girdle bone morphology, short tibia, increased body weight and increased body fat mass.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    23
  • GO References
    17
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
    843
  • Tissues
    27
  • cDNA Data
    44
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000035919 Ensembl Gene Model | MGI Sequence Detail 412566 C57BL/6J ±  kb
    transcript ENSMUST00000147405 Ensembl | MGI Sequence Detail 3045 Not Applicable  
    polypeptide ENSMUSP00000120927 Ensembl | MGI Sequence Detail 885 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 46
      cDNA 44
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1858602
    References
    more
    • Summaries
      All 51
      Developmental Gene Expression 5
      Gene Ontology 17
      Phenotypes 10
    • Earliest
      J:62157 Thomas JW, et al., Comparative genome mapping in the sequence-based era: early experience with human chromosome 7. Genome Res. 2000 May;10(5):624-33
    • Latest
      J:313619 Bedogni F, et al., Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Front Mol Neurosci. 2021;14:686034
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory