ENSMUSG00000031755


Mus musculus

Features
Gene ID: ENSMUSG00000031755
  
Biological name :Bbs2
  
Synonyms : Bardet-Biedl syndrome 2 protein homolog / Bbs2 / Q9CWF6
  
Possible biological names infered from orthology : Bardet-Biedl syndrome 2 / Q9BXC9
  
Species: Mus musculus
  
Chr. number: 8
Strand: -1
Band: C5
Gene start: 94067954
Gene end: 94098928
  
Corresponding Affymetrix probe sets: 10580733 (MoGene1.0st)   1424478_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000034206
NCBI entrez gene - 67378     See in Manteia.
MGI - MGI:2135267
RefSeq - NM_026116
RefSeq - XM_006531304
RefSeq Peptide - NP_080392
swissprot - Q9CWF6
Ensembl - ENSMUSG00000031755
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bbs2ENSDARG00000041621Danio rerio
 BBS2ENSGALG00000042415Gallus gallus
 BBS2ENSG00000125124Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 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


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007288 sperm axoneme assembly IMP
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0008104 protein localization IMP
 biological_processGO:0010629 negative regulation of gene expression IMP
 biological_processGO:0014824 artery smooth muscle contraction IMP
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0021756 striatum development IMP
 biological_processGO:0021766 hippocampus development IMP
 biological_processGO:0021987 cerebral cortex development IMP
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0030534 adult behavior IMP
 biological_processGO:0033210 leptin-mediated signaling pathway IMP
 biological_processGO:0033365 protein localization to organelle IDA
 biological_processGO:0038108 negative regulation of appetite by leptin-mediated signaling pathway IMP
 biological_processGO:0040015 negative regulation of multicellular organism growth IMP
 biological_processGO:0040018 positive regulation of multicellular organism growth IMP
 biological_processGO:0042311 vasodilation IMP
 biological_processGO:0043001 Golgi to plasma membrane protein transport IEA
 biological_processGO:0044321 response to leptin IMP
 biological_processGO:0045444 fat cell differentiation IEP
 biological_processGO:0045494 photoreceptor cell maintenance IMP
 biological_processGO:0048854 brain morphogenesis IMP
 biological_processGO:0051216 cartilage development IMP
 biological_processGO:0060271 cilium assembly IMP
 biological_processGO:0060296 regulation of cilium beat frequency involved in ciliary motility IMP
 biological_processGO:1903441 protein localization to ciliary membrane IBA
 biological_processGO:1905515 non-motile cilium assembly IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005902 microvillus IDA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0031514 motile cilium IEA
 cellular_componentGO:0032420 stereocilium IDA
 cellular_componentGO:0034464 BBSome ISO
 cellular_componentGO:0036064 ciliary basal body IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0060170 ciliary membrane IEA
 molecular_functionGO:0001103 RNA polymerase II repressing transcription factor binding IEA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
BBSome-mediated cargo-targeting to cilium


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000010 abnormal abdominal fat pads "malformed or aberrant size of the encapsulated adipose tissue in the abdomen" [J:65146]
Show

Allelic Composition: Nt5etm1Lft/Nt5etm1Lft
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0000623 reduced salivation "decrease flow, secretion, or amount of saliva" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Nt5etm1Lft/Nt5etm1Lft
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0001260 increased body weight "greater than normal average weight " [J:33400]
Show

Allelic Composition: Nt5etm1Lft/Nt5etm1Lft
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
Show

Allelic Composition: Nt5etm1Lft/Nt5etm1Lft
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0001326 retinal degeneration "pathological change in the thin layer of neural tissue lining the back of the eyeball, which contains visual receptors and can result in the impairment or cessation of retinal neural function" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
Show

Allelic Composition: Nt5etm1Lft/Nt5etm1Lft
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0001433 polyphagia "eating to excess" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Nt5etm1Lft/Nt5etm1Lft
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0001489 decreased startle reflex "greater threshold or less severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, What s Wrong With My Mouse?:ISBN 0-471-31639-3]
Show

Allelic Composition: Nt5etm1Lft/Nt5etm1Lft
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0001526 abnormal placing response "altered ability to stretch and lift the forelimbs and head to grab a close edge " [J:66943, MGI:cml]
Show

Allelic Composition: Nt5etm1Lft/Nt5etm1Lft
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
Show

Allelic Composition: Nt5etm1Lft/Nt5etm1Lft
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0001984 abnormal olfaction "change in the ability to smell" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Nt5etm1Lft/Nt5etm1Lft
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Nt5etm1Lft/Nt5etm1Lft
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0002628 fatty liver "an accumulation of fat deposits in the liver " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Nt5etm1Lft/Nt5etm1Lft
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0003675 kidney cysts "abnormal membranous sacs in any portion of the pair of organs responsible for urine secretion" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Nt5etm1Lft/Nt5etm1Lft
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0005498 hyporesponsive to tactile stimuli "reduced reflex action normally induced by touch or pain" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Nt5etm1Lft/Nt5etm1Lft
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0005551 abnormal eye electrophysiology "abnormal function of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram)" [NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
Show

Allelic Composition: Nt5etm1Lft/Nt5etm1Lft
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0005656 decreased aggression "when compared to controls, subjects exhibit less than the normal level of domineering, assaultive posture and/or hostile physical action" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith, Mouse Genome Informatics curator]
Show

Allelic Composition: Nt5etm1Lft/Nt5etm1Lft
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0006007 abnormal basal ganglion morphology "malformation or absence of any of a group of nuclei associated with the ability to carry out willed movements, including the caudate, putamen, nucleus accumbens, globus pallidus, substantia nigra, and subthalamic nucleus" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0006087 increased body mass index "greater than normal average of a measure of weight for height" [ncbi:NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Nt5etm1Lft/Nt5etm1Lft
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0006254 thin cerebral cortex "decreased depth of the mantle covering the surface of the cerebral hemispheres" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:84683]
Show

Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008283 small hippocampus "reduced size of the deep lying structure of the cerebrum involved with memory storage and spatial navigation" [ISBN:0-12-402035-6 "Kaufman, MH The Atlas of Mouse Development", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008535 enlarged lateral ventricles "increased size of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle" [MESH:A08.186.211.276.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008536 enlarged third ventricle "increased size of the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina" [MESH:A08.186.211.276.840, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008545 absent sperm flagella "mature spermatozoa lack a flagella" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nt5etm1Lft/Nt5etm1Lft
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0008586 disorganized photoreceptor outer segment "derangement of the pattern of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nt5etm1Lft/Nt5etm1Lft
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0009703 decreased birth body size "reduction in average body size at birth compared to controls" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nt5etm1Lft/Nt5etm1Lft
Genetic Background: involves: 129S1/Sv * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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