ENSMUSG00000037325


Mus musculus

Features
Gene ID: ENSMUSG00000037325
  
Biological name :Bbs7
  
Synonyms : Bardet-Biedl syndrome 7 protein homolog / Bbs7 / Q8K2G4
  
Possible biological names infered from orthology : Bardet-Biedl syndrome 7 / Q8IWZ6
  
Species: Mus musculus
  
Chr. number: 3
Strand: -1
Band: B
Gene start: 36573142
Gene end: 36613477
  
Corresponding Affymetrix probe sets: 10497842 (MoGene1.0st)   1430941_at (Mouse Genome 430 2.0 Array)   1454684_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000103790
Ensembl peptide - ENSMUSP00000118961
Ensembl peptide - ENSMUSP00000103791
Ensembl peptide - ENSMUSP00000047273
NCBI entrez gene - 71492     See in Manteia.
MGI - MGI:1918742
RefSeq - XM_006535535
RefSeq - XM_006535536
RefSeq - NM_027810
RefSeq Peptide - NP_082086
swissprot - Q8K2G4
swissprot - E9Q0R0
swissprot - D3YXR1
Ensembl - ENSMUSG00000037325
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bbs7ENSDARG00000059911Danio rerio
 BBS7ENSGALG00000011880Gallus gallus
 BBS7ENSG00000138686Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR016575  Bardet-Biedl syndrome 7 protein
 IPR036322  WD40-repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001654 eye development IGI
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0007224 smoothened signaling pathway IGI
 biological_processGO:0007420 brain development IGI
 biological_processGO:0007507 heart development IGI
 biological_processGO:0008104 protein localization IMP
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process IEA
 biological_processGO:0045444 fat cell differentiation IEP
 biological_processGO:0046907 intracellular transport IBA
 biological_processGO:0060173 limb development IGI
 biological_processGO:0060271 cilium assembly IBA
 biological_processGO:1903929 primary palate development IGI
 biological_processGO:1905515 non-motile cilium assembly IEA
 cellular_componentGO:0001750 photoreceptor outer segment IDA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome IEA
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0005930 axoneme IDA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0034464 BBSome IEA
 cellular_componentGO:0036064 ciliary basal body ISO
 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:0000111 cleft palate "congenital fissure of the tissues normally uniting to form the palate" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Ror1tm1.2Meg/Ror1tm1.2Meg,Ror2tm1.2Meg/Ror2tm1.2Meg
Genetic Background: involves: 129S4/SvJae * C57BL/6 * FVB/N

 MP:0000914 exencephaly "neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Bbs7tm1Vcs/Bbs7tm1Vcs,Ift88Tg737Rpw/Ift88Tg737Rpw
Genetic Background: involves: FVB/N

 MP:0001260 increased body weight "greater than normal average weight " [J:33400]
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Allelic Composition: Pcdhgtm2Xzw/Pcdhgtm2Xzw,Robo2tm1Rilm/Robo2tm1Rilm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CD-1

 MP:0001261 obese "excessively fat; an increase in fat in the subcutaneous connective tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pcdhgtm2Xzw/Pcdhgtm2Xzw,Robo2tm1Rilm/Robo2tm1Rilm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CD-1

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Pcdhgtm2Xzw/Pcdhgtm2Xzw,Robo2tm1Rilm/Robo2tm1Rilm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CD-1

 MP:0001293 anophthalmia "congenital absence of all tissues of the eyes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CML, J:71979]
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Allelic Composition: Ror1tm1.2Meg/Ror1tm1.2Meg,Ror2tm1.2Meg/Ror2tm1.2Meg
Genetic Background: involves: 129S4/SvJae * C57BL/6 * FVB/N

 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: Pcdhgtm2Xzw/Pcdhgtm2Xzw,Robo2tm1Rilm/Robo2tm1Rilm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CD-1

 MP:0001787 pericardial edema "accumulation of watery fluid in the pericardial sac of the heart" [J:52597]
Show

Allelic Composition: Ror1tm1.2Meg/Ror1tm1.2Meg,Ror2tm1.2Meg/Ror2tm1.2Meg
Genetic Background: involves: 129S4/SvJae * C57BL/6 * FVB/N

 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: Pcdhgtm2Xzw/Pcdhgtm2Xzw,Robo2tm1Rilm/Robo2tm1Rilm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CD-1

 MP:0004574 broad limb buds "increased anterior-posterior width of the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs" [MESH:National Library of Medicine_Medical Subject Headings]
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Allelic Composition: Bbs7tm1Vcs/Bbs7tm1Vcs,Ift88Tg737Rpw/Ift88Tg737Rpw
Genetic Background: involves: FVB/N

 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]
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Allelic Composition: Pcdhgtm2Xzw/Pcdhgtm2Xzw,Robo2tm1Rilm/Robo2tm1Rilm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CD-1

 MP:0006279 abnormal limb development "anomaly in the formation of the limbs" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Bbs7tm1Vcs/Bbs7tm1Vcs,Ift88Tg737Rpw/Ift88Tg737Rpw
Genetic Background: involves: FVB/N

 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: Pcdhgtm2Xzw/Pcdhgtm2Xzw,Robo2tm1Rilm/Robo2tm1Rilm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CD-1

 MP:0008518 retinal outer nuclear layer degeneration "a retrogressive impairment or destruction of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcdhgtm2Xzw/Pcdhgtm2Xzw,Robo2tm1Rilm/Robo2tm1Rilm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CD-1

 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: Pcdhgtm2Xzw/Pcdhgtm2Xzw,Robo2tm1Rilm/Robo2tm1Rilm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CD-1

 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: Pcdhgtm2Xzw/Pcdhgtm2Xzw,Robo2tm1Rilm/Robo2tm1Rilm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CD-1

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

Allelic Composition: Pcdhgtm2Xzw/Pcdhgtm2Xzw,Robo2tm1Rilm/Robo2tm1Rilm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CD-1

 MP:0008580 photoreceptor inner segment degeneration "retrogressive pathologic change in the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pcdhgtm2Xzw/Pcdhgtm2Xzw,Robo2tm1Rilm/Robo2tm1Rilm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CD-1

 MP:0008584 photoreceptor outer segment degeneration "retrogressive pathologic change in the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pcdhgtm2Xzw/Pcdhgtm2Xzw,Robo2tm1Rilm/Robo2tm1Rilm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CD-1

 MP:0008892 abnormal sperm flagellum "any strucutral anomaly of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility" [MESH:A05.360.490.890.840]
Show

Allelic Composition: Pcdhgtm2Xzw/Pcdhgtm2Xzw,Robo2tm1Rilm/Robo2tm1Rilm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CD-1

 MP:0009141 increased prepulse inhibition "increase in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bbs4tm1b(EUCOMM)Hmgu/Bbs4tm1b(EUCOMM)Hmgu
Genetic Background: B6N(Cg)-Bbs4tm1b(EUCOMM)Hmgu/J

 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: Pcdhgtm2Xzw/Pcdhgtm2Xzw,Robo2tm1Rilm/Robo2tm1Rilm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CD-1

 MP:0009836 abnormal sperm principal piece morphology "any structural abnormality in the segment of the sperm flagellum where the mitochondrial sheath ends and the outer dense fibers (ODFs) associated with outer axonemal doublets 3 and 8 are replaced by the 2 longitudinal columns of the fibrous sheath (FS) which run the length of the principal piece and are stabilized by circumferential ribs; the principal piece makes up ~2/3 of the length of the sperm flagellum and is defined by the presence of the FS and of only 7 (rather than 9) ODFs which taper and then terminate near the distal end of the principal piece" [PMID:14581499]
Show

Allelic Composition: Pcdhgtm2Xzw/Pcdhgtm2Xzw,Robo2tm1Rilm/Robo2tm1Rilm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CD-1

 MP:0009838 abnormal sperm axoneme morphology "any structural abnormality of the central core of the sperm flagellum, composed of a ring of 9 outer microtubule doublets surrounding a central pair; inner and outer dynein arms project from each of the outer 9 doublets, and these arms are responsible for generating the motive force of the flagellum; in addition, 9 radial spokes, each of which originates from 1 of the 9 outer microtubular doublet pairs, project inward toward the central pair in a helical fashion" [PMID:14581499]
Show

Allelic Composition: Pcdhgtm2Xzw/Pcdhgtm2Xzw,Robo2tm1Rilm/Robo2tm1Rilm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CD-1

 MP:0011056 abnormal brain ependyma motile cilium morphology "any structural anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert and to move cerebrospinal fluid" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pcdhgtm2Xzw/Pcdhgtm2Xzw,Robo2tm1Rilm/Robo2tm1Rilm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CD-1

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Bbs7tm1Vcs/Bbs7tm1Vcs,Ift88Tg737Rpw/Ift88Tg737Rpw
Genetic Background: involves: FVB/N

 MP:0011110 partial preweaning lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Pcdhgtm2Xzw/Pcdhgtm2Xzw,Robo2tm1Rilm/Robo2tm1Rilm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CD-1

Allelic Composition: Bbs7tm1b(EUCOMM)Wtsi/Bbs7tm1b(EUCOMM)Wtsi
Genetic Background: B6N(Cg)-Bbs7tm1b(EUCOMM)Wtsi/J

 MP:0011939 increased food intake "increase in the total number of calories/food amount taken in over time when compared to the normal state" [MGI:csmith]
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Allelic Composition: Pcdhgtm2Xzw/Pcdhgtm2Xzw,Robo2tm1Rilm/Robo2tm1Rilm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CD-1

 MP:0012468 decreased striatum area "reduced size of a large cluster of dopaminergic nerve cells, consisting of the caudate nucleus and the putamen, that controls movement, balance, and walking" [ISBN:0838580343, MGI:csmith]
Show

Allelic Composition: Pcdhgtm2Xzw/Pcdhgtm2Xzw,Robo2tm1Rilm/Robo2tm1Rilm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CD-1

 MP:0012531 delayed limb development "late onset of the induction and/or differentiation of the limbs" [MGI:anna]
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Allelic Composition: Bbs7tm1Vcs/Bbs7tm1Vcs,Ift88Tg737Rpw/Ift88Tg737Rpw
Genetic Background: involves: FVB/N

 MP:0013202 abnormal cilium morphology "any structural anomaly of the specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface; each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole " [GO:0005929]
Show

Allelic Composition: Pcdhgtm2Xzw/Pcdhgtm2Xzw,Robo2tm1Rilm/Robo2tm1Rilm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CD-1

  


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






 

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