Manteia

ENSMUSG00000063145

Mus musculus

Features

Gene ID:	ENSMUSG00000063145

Biological name :	Bbs5

Synonyms :	Bardet-Biedl syndrome 5 protein homolog / Bbs5 / Q9CZQ9

Possible biological names infered from orthology :	Bardet-Biedl syndrome 5 / Q8N3I7

Species:	Mus musculus

Chr. number:	2
Strand:	1
Band:	C2
Gene start:	69647171
Gene end:	69667571

Corresponding Affymetrix probe sets:	10472549 (MoGene1.0st) 1429762_a_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000107905 Ensembl peptide - ENSMUSP00000121691 Ensembl peptide - ENSMUSP00000119377 Ensembl peptide - ENSMUSP00000074494 NCBI entrez gene - 72569 See in Manteia. MGI - MGI:1919819 RefSeq - NM_028284 RefSeq Peptide - NP_082560 swissprot - A2AUC6 swissprot - F6Q242 swissprot - D6RJ69 swissprot - Q9CZQ9 Ensembl - ENSMUSG00000063145

See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
bbs5	ENSDARG00000039827	Danio rerio
BBS5	ENSGALG00000009846	Gallus gallus
BBS5	ENSG00000163093	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name

Similarity(%)

No match

Protein motifs (from Interpro)

Interpro ID	Name
IPR006606	Bardet-Biedl syndrome 5 protein
IPR011993	PH-like domain superfamily
IPR014003	DM16 repeat
IPR030804	Bardet-Biedl syndrome 5 protein/sex-determination protein fem-3

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0015031	protein transport	IEA
biological_process	GO:0030030	cell projection organization	IEA
biological_process	GO:0046907	intracellular transport	IBA
biological_process	GO:0060271	cilium assembly	IEA
cellular_component	GO:0005622	intracellular	IEA
cellular_component	GO:0005737	cytoplasm	IEA
cellular_component	GO:0005815	microtubule organizing center	IEA
cellular_component	GO:0005856	cytoskeleton	IEA
cellular_component	GO:0005886	plasma membrane	IEA
cellular_component	GO:0005929	cilium	IEA
cellular_component	GO:0005930	axoneme	IDA
cellular_component	GO:0016020	membrane	IEA
cellular_component	GO:0034464	BBSome	IEA
cellular_component	GO:0036064	ciliary basal body	IDA
cellular_component	GO:0042995	cell projection	IEA
cellular_component	GO:0060170	ciliary membrane	IEA
molecular_function	GO:0001103	RNA polymerase II repressing transcription factor binding	IEA
molecular_function	GO:0032266	phosphatidylinositol-3-phosphate binding	IEA

Pathways (from Reactome)

Pathway description

BBSome-mediated cargo-targeting to cilium

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000063	reduced bone density	"decreased mineral content of bone; indicator of bone strength" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:57315]	Show Allelic Composition: Barx2^{tm1b(EUCOMM)Hmgu}/Barx2^{tm1b(EUCOMM)Hmgu} Genetic Background: C57BL/6N-Barx2^{tm1b(EUCOMM)Hmgu}/H
MP:0000218	increased WBC count	"greater than normal WBC numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Barx2^{tm1b(EUCOMM)Hmgu}/Barx2^{tm1b(EUCOMM)Hmgu} Genetic Background: C57BL/6N-Barx2^{tm1b(EUCOMM)Hmgu}/H
MP:0000599	enlarged liver	"larger than average size of the liver" [J:65146]	Show Allelic Composition: Barx2^{tm1b(EUCOMM)Hmgu}/Barx2^{tm1b(EUCOMM)Hmgu} Genetic Background: C57BL/6N-Barx2^{tm1b(EUCOMM)Hmgu}/H
MP:0001325	abnormal retina morphology	"structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Barx2^{tm1b(EUCOMM)Hmgu}/Barx2^{tm1b(EUCOMM)Hmgu} Genetic Background: C57BL/6N-Barx2^{tm1b(EUCOMM)Hmgu}/H
MP:0001406	abnormal gait	"unusual or distinctive way of walking" [J:65038]	Show Allelic Composition: Barx2^{tm1b(EUCOMM)Hmgu}/Barx2^{tm1b(EUCOMM)Hmgu} Genetic Background: C57BL/6N-Barx2^{tm1b(EUCOMM)Hmgu}/H
MP:0001556	increased circulating HDL cholesterol level	"higher than average level of high density lipoprotein in the blood; this molecule transports cholesterol to the liver for excretion in bile" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:47439]	Show Allelic Composition: Barx2^{tm1b(EUCOMM)Hmgu}/Barx2^{tm1b(EUCOMM)Hmgu} Genetic Background: C57BL/6N-Barx2^{tm1b(EUCOMM)Hmgu}/H
MP:0002590	increased mean corpuscular volume	"greater than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Barx2^{tm1b(EUCOMM)Hmgu}/Barx2^{tm1b(EUCOMM)Hmgu} Genetic Background: C57BL/6N-Barx2^{tm1b(EUCOMM)Hmgu}/H
MP:0002608	increased hematocrit	"greater than average percentage of a volume of a blood sample occupied by red blood cells" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Barx2^{tm1b(EUCOMM)Hmgu}/Barx2^{tm1b(EUCOMM)Hmgu} Genetic Background: C57BL/6N-Barx2^{tm1b(EUCOMM)Hmgu}/H
MP:0002764	short tibia	" reduced length of the medial and larger bone of the lower leg" [J:12736, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Barx2^{tm1b(EUCOMM)Hmgu}/Barx2^{tm1b(EUCOMM)Hmgu} Genetic Background: C57BL/6N-Barx2^{tm1b(EUCOMM)Hmgu}/H
MP:0002941	increased circulating alanine transaminase level	"increased concentration in the blood of this enzyme, which transfers amino groups from l-alanine to 2 ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Barx2^{tm1b(EUCOMM)Hmgu}/Barx2^{tm1b(EUCOMM)Hmgu} Genetic Background: C57BL/6N-Barx2^{tm1b(EUCOMM)Hmgu}/H
MP:0003020	decreased circulating chloride level	"reduced concentration of chlorine salts in the circulation" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]	Show Allelic Composition: Barx2^{tm1b(EUCOMM)Hmgu}/Barx2^{tm1b(EUCOMM)Hmgu} Genetic Background: C57BL/6N-Barx2^{tm1b(EUCOMM)Hmgu}/H
MP:0003179	decreased platelet count	"fewer than the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, hdene:Howard Dene , Mouse Genome Informatics Curator, J:93052]	Show Allelic Composition: Barx2^{tm1b(EUCOMM)Hmgu}/Barx2^{tm1b(EUCOMM)Hmgu} Genetic Background: C57BL/6N-Barx2^{tm1b(EUCOMM)Hmgu}/H
MP:0003929	decreased heart rate variability	"reduced variation of beat-to-beat intervals of the heart, usually indicitive of cardiac disease" [RGD:Rat Genome Database submission]	Show Allelic Composition: Barx2^{tm1b(EUCOMM)Hmgu}/Barx2^{tm1b(EUCOMM)Hmgu} Genetic Background: C57BL/6N-Barx2^{tm1b(EUCOMM)Hmgu}/H
MP:0003961	decreased lean body mass	"less than average fat-free physical bulk or volume of the body including all its components except adipose tissue" [honda:Hiraoki Onda, Mouse GEnome Informatics Curator]	Show Allelic Composition: Barx2^{tm1b(EUCOMM)Hmgu}/Barx2^{tm1b(EUCOMM)Hmgu} Genetic Background: C57BL/6N-Barx2^{tm1b(EUCOMM)Hmgu}/H
MP:0004924	abnormal behavior	"anomalies in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Barx2^{tm1b(EUCOMM)Hmgu}/Barx2^{tm1b(EUCOMM)Hmgu} Genetic Background: C57BL/6N-Barx2^{tm1b(EUCOMM)Hmgu}/H
MP:0005178	increased total circulating cholesterol level	"greater than the normal concentration in the blood of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Barx2^{tm1b(EUCOMM)Hmgu}/Barx2^{tm1b(EUCOMM)Hmgu} Genetic Background: C57BL/6N-Barx2^{tm1b(EUCOMM)Hmgu}/H
MP:0005293	impaired glucose tolerance	"less than the normal response to oral consumption or intravenous injection of specified amounts of glucose and indicative of insulin resistance; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Barx2^{tm1b(EUCOMM)Hmgu}/Barx2^{tm1b(EUCOMM)Hmgu} Genetic Background: C57BL/6N-Barx2^{tm1b(EUCOMM)Hmgu}/H
MP:0005343	increased circulating aspartate transaminase level	"greater than normal concentration in the blood of this enzyme, which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid; aids in diagnosis of viral hepatitis and myocardial infarction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:85204]	Show Allelic Composition: Barx2^{tm1b(EUCOMM)Hmgu}/Barx2^{tm1b(EUCOMM)Hmgu} Genetic Background: C57BL/6N-Barx2^{tm1b(EUCOMM)Hmgu}/H
MP:0005385	cardiovascular system phenotype		Show Allelic Composition: Barx2^{tm1b(EUCOMM)Hmgu}/Barx2^{tm1b(EUCOMM)Hmgu} Genetic Background: C57BL/6N-Barx2^{tm1b(EUCOMM)Hmgu}/H
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]	Show Allelic Composition: Barx2^{tm1b(EUCOMM)Hmgu}/Barx2^{tm1b(EUCOMM)Hmgu} Genetic Background: C57BL/6N-Barx2^{tm1b(EUCOMM)Hmgu}/H
MP:0005561	increased mean corpuscular hemoglobin	"greater than the average levels of hemoglobin contained in an erythrocyte" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Barx2^{tm1b(EUCOMM)Hmgu}/Barx2^{tm1b(EUCOMM)Hmgu} Genetic Background: C57BL/6N-Barx2^{tm1b(EUCOMM)Hmgu}/H
MP:0005564	increased hemoglobin content	"increase in the total hemoglobin content in the circulating blood" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, RGD:Rat Genome Database submission]	Show Allelic Composition: Barx2^{tm1b(EUCOMM)Hmgu}/Barx2^{tm1b(EUCOMM)Hmgu} Genetic Background: C57BL/6N-Barx2^{tm1b(EUCOMM)Hmgu}/H
MP:0005635	decreased circulating bilirubin level	"less thant the normal concentration in the blood of this yellow heme breakdown product" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]	Show Allelic Composition: Barx2^{tm1b(EUCOMM)Hmgu}/Barx2^{tm1b(EUCOMM)Hmgu} Genetic Background: C57BL/6N-Barx2^{tm1b(EUCOMM)Hmgu}/H
MP:0010024	increased total body fat amount	"greater than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Barx2^{tm1b(EUCOMM)Hmgu}/Barx2^{tm1b(EUCOMM)Hmgu} Genetic Background: C57BL/6N-Barx2^{tm1b(EUCOMM)Hmgu}/H
MP:0010053	decreased grip strength	"reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]	Show Allelic Composition: Barx2^{tm1b(EUCOMM)Hmgu}/Barx2^{tm1b(EUCOMM)Hmgu} Genetic Background: C57BL/6N-Barx2^{tm1b(EUCOMM)Hmgu}/H
MP:0010124	decreased bone mineral content	"reduction in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Barx2^{tm1b(EUCOMM)Hmgu}/Barx2^{tm1b(EUCOMM)Hmgu} Genetic Background: C57BL/6N-Barx2^{tm1b(EUCOMM)Hmgu}/H
MP:0010379	decreased respiratory quotient	"reduction in the ratio of the volume of carbon dioxide released to oxygen consumed by a body tissue or an organism compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Barx2^{tm1b(EUCOMM)Hmgu}/Barx2^{tm1b(EUCOMM)Hmgu} Genetic Background: C57BL/6N-Barx2^{tm1b(EUCOMM)Hmgu}/H
MP:0013279	increased fasted circulating glucose level	"increase in the amount of glucose in the blood at some defined time point after eating compared to controls" [MGI:Armida_Di_Fenza]	Show Allelic Composition: Barx2^{tm1b(EUCOMM)Hmgu}/Barx2^{tm1b(EUCOMM)Hmgu} Genetic Background: C57BL/6N-Barx2^{tm1b(EUCOMM)Hmgu}/H

Interacting proteins (from Reactome)

Interactor ID

Name

Interaction type

No match

1 s.

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