ENSMUSG00000051444


Mus musculus

Features
Gene ID: ENSMUSG00000051444
  
Biological name :Bbs12
  
Synonyms : Bardet-Biedl syndrome 12 protein homolog / Bbs12 / Q5SUD9
  
Possible biological names infered from orthology : Bardet-Biedl syndrome 12 / Q6ZW61
  
Species: Mus musculus
  
Chr. number: 3
Strand: 1
Band: B
Gene start: 37312554
Gene end: 37321453
  
Corresponding Affymetrix probe sets: 10491695 (MoGene1.0st)   1447275_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000052179
Ensembl peptide - ENSMUSP00000103756
NCBI entrez gene - 241950     See in Manteia.
MGI - MGI:2686651
RefSeq - XM_017319573
RefSeq - XM_011249682
RefSeq - XM_006535480
RefSeq - XM_011249683
RefSeq - NM_001008502
RefSeq - NM_001255992
RefSeq Peptide - NP_001242921
RefSeq Peptide - NP_001008502
swissprot - Q5SUD9
swissprot - Z4YKQ3
Ensembl - ENSMUSG00000051444
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bbs12ENSDARG00000016112Danio rerio
 BBS12ENSG00000181004Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR002423  Chaperonin Cpn60/TCP-1 family
 IPR027409  GroEL-like apical domain superfamily
 IPR027413  GroEL-like equatorial domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006458 "de novo" protein folding IBA
 biological_processGO:0042073 intraciliary transport IMP
 biological_processGO:0042755 eating behavior IMP
 biological_processGO:0045494 photoreceptor cell maintenance IMP
 biological_processGO:0045599 negative regulation of fat cell differentiation IEA
 biological_processGO:0051131 chaperone-mediated protein complex assembly IEA
 biological_processGO:0061077 chaperone-mediated protein folding IBA
 cellular_componentGO:0005832 chaperonin-containing T-complex IBA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0044183 protein binding involved in protein folding IBA
 molecular_functionGO:0051082 unfolded protein binding IBA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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]
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Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Lyz2tm1(cre)Ifo/Lyz2+,Tg(KRT14-cre)1Cgn/0
Genetic Background: involves: 129 * C57BL/6 * CBA * 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]
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Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Lyz2tm1(cre)Ifo/Lyz2+,Tg(KRT14-cre)1Cgn/0
Genetic Background: involves: 129 * C57BL/6 * CBA * FVB/N

 MP:0001431 abnormal eating behavior "inability to consume or atypical consumption pattern" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:19212]
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Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Lyz2tm1(cre)Ifo/Lyz2+,Tg(KRT14-cre)1Cgn/0
Genetic Background: involves: 129 * C57BL/6 * CBA * FVB/N

 MP:0001876 decreased inflammatory response "less than expected response to injury, infection, or insult" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Lyz2tm1(cre)Ifo/Lyz2+,Tg(KRT14-cre)1Cgn/0
Genetic Background: involves: 129 * C57BL/6 * CBA * FVB/N

 MP:0002397 abnormal bone marrow morphology "structural anomalies in the soft tissue that fills the cavities of bones" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Lyz2tm1(cre)Ifo/Lyz2+,Tg(KRT14-cre)1Cgn/0
Genetic Background: involves: 129 * C57BL/6 * CBA * FVB/N

 MP:0002702 decreased circulating free fatty acid level "lower than normal levels of unesterified fatty acids in the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Lyz2tm1(cre)Ifo/Lyz2+,Tg(KRT14-cre)1Cgn/0
Genetic Background: involves: 129 * C57BL/6 * CBA * FVB/N

 MP:0002891 increased insulin sensitivity "greater ability to clear glucose from the bloodstream when given insulin than normal; can result in hypoglycemia" [RGD:Rat Genome Database submission]
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Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Lyz2tm1(cre)Ifo/Lyz2+,Tg(KRT14-cre)1Cgn/0
Genetic Background: involves: 129 * C57BL/6 * CBA * FVB/N

 MP:0004892 increased adiponectin level "greater level of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Lyz2tm1(cre)Ifo/Lyz2+,Tg(KRT14-cre)1Cgn/0
Genetic Background: involves: 129 * C57BL/6 * CBA * FVB/N

 MP:0005559 increased circulating glucose level "greater than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, RGD:Rat Genome Database submission]
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Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Lyz2tm1(cre)Ifo/Lyz2+,Tg(KRT14-cre)1Cgn/0
Genetic Background: involves: 129 * C57BL/6 * CBA * FVB/N

 MP:0005658 susceptibility to diet-induced obesity "more likely to become excessively fat or to increase fat in the subcutaneous connective tissue as a result of consuming a diet geared to increase body fat " [cwg:Carroll-Ann W. Goldsmith, Mouse Genome Informatics curator]
Show

Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Lyz2tm1(cre)Ifo/Lyz2+,Tg(KRT14-cre)1Cgn/0
Genetic Background: involves: 129 * C57BL/6 * CBA * FVB/N

 MP:0005669 increased circulating leptin level "greater than the normal blood concentration of the peptide hormone secreted by white adipocytes and believed to regulate food intake and energy balance" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, J:34751]
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Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Lyz2tm1(cre)Ifo/Lyz2+,Tg(KRT14-cre)1Cgn/0
Genetic Background: involves: 129 * C57BL/6 * CBA * FVB/N

 MP:0006094 adipocyte hypertrophy "increase in the size of fat cells" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:90802]
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Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Lyz2tm1(cre)Ifo/Lyz2+,Tg(KRT14-cre)1Cgn/0
Genetic Background: involves: 129 * C57BL/6 * CBA * FVB/N

 MP:0008515 thin retinal outer nuclear layer "reduced thickness 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: Vegfatm2Gne/Vegfatm2Gne,Lyz2tm1(cre)Ifo/Lyz2+,Tg(KRT14-cre)1Cgn/0
Genetic Background: involves: 129 * C57BL/6 * CBA * FVB/N

 MP:0008554 decreased circulating tumor necrosis factor level "reduction in the amount in the blood of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium" [ISBN:0-8153-1691-7 "Immunobiology, The Immune System in Health and Disease", MESH:D12.644.276.374.500.800]
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Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Lyz2tm1(cre)Ifo/Lyz2+,Tg(KRT14-cre)1Cgn/0
Genetic Background: involves: 129 * C57BL/6 * CBA * FVB/N

 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: Vegfatm2Gne/Vegfatm2Gne,Lyz2tm1(cre)Ifo/Lyz2+,Tg(KRT14-cre)1Cgn/0
Genetic Background: involves: 129 * C57BL/6 * CBA * FVB/N

 MP:0008597 decreased circulating interleukin-6 level "reduction in the amount in the blood of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts" [MESH:D12.644.276.374.465.506]
Show

Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Lyz2tm1(cre)Ifo/Lyz2+,Tg(KRT14-cre)1Cgn/0
Genetic Background: involves: 129 * C57BL/6 * CBA * FVB/N

 MP:0009115 abnormal fat cell morphology "any structural anomaly of a fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals" [CL:0000449]
Show

Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Lyz2tm1(cre)Ifo/Lyz2+,Tg(KRT14-cre)1Cgn/0
Genetic Background: involves: 129 * C57BL/6 * CBA * FVB/N

 MP:0009288 increased epididymal fat pad weight 
Show

Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Lyz2tm1(cre)Ifo/Lyz2+,Tg(KRT14-cre)1Cgn/0
Genetic Background: involves: 129 * C57BL/6 * CBA * FVB/N

 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: Vegfatm2Gne/Vegfatm2Gne,Lyz2tm1(cre)Ifo/Lyz2+,Tg(KRT14-cre)1Cgn/0
Genetic Background: involves: 129 * C57BL/6 * CBA * FVB/N

 MP:0030016 increased adipocyte glucose uptake "increased ability of adipocytes to take in glucose" [MGI:anna]
Show

Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Lyz2tm1(cre)Ifo/Lyz2+,Tg(KRT14-cre)1Cgn/0
Genetic Background: involves: 129 * C57BL/6 * CBA * FVB/N

  


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






 

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