ENSMUSG00000002031


Mus musculus

Features
Gene ID: ENSMUSG00000002031
  
Biological name :Ift46
  
Synonyms : Ift46 / Intraflagellar transport / Q9DB07
  
Possible biological names infered from orthology : intraflagellar transport 46 / Q9NQC8
  
Species: Mus musculus
  
Chr. number: 9
Strand: 1
Band: A5.2
Gene start: 44767908
Gene end: 44793447
  
Corresponding Affymetrix probe sets: 10584803 (MoGene1.0st)   1417474_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000113845
Ensembl peptide - ENSMUSP00000149271
Ensembl peptide - ENSMUSP00000122682
Ensembl peptide - ENSMUSP00000120480
Ensembl peptide - ENSMUSP00000118412
Ensembl peptide - ENSMUSP00000116729
Ensembl peptide - ENSMUSP00000002099
NCBI entrez gene - 76568     See in Manteia.
MGI - MGI:1923818
RefSeq - XM_006510672
RefSeq - NM_023831
RefSeq - XM_006510671
RefSeq Peptide - NP_076320
swissprot - D3Z405
swissprot - D3Z4B1
swissprot - A0A1L1SR19
swissprot - Q9DB07
swissprot - D3YYR2
swissprot - D3YWI2
Ensembl - ENSMUSG00000002031
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ift46ENSDARG00000011240Danio rerio
 ENSGALG00000007438Gallus gallus
 IFT46ENSG00000118096Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR022088  Intraflagellar transport complex B protein 46


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007224 smoothened signaling pathway IMP
 biological_processGO:0015031 protein transport ISO
 biological_processGO:0031647 regulation of protein stability ISO
 biological_processGO:0035082 axoneme assembly ISO
 biological_processGO:0042073 intraciliary transport IC
 biological_processGO:0044782 cilium organization ISO
 biological_processGO:0060271 cilium assembly IMP
 biological_processGO:0060285 cilium-dependent cell motility ISO
 biological_processGO:1902017 regulation of cilium assembly ISO
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005929 cilium TAS
 cellular_componentGO:0030992 intraciliary transport particle B IDA
 cellular_componentGO:0031514 motile cilium ISO
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0060170 ciliary membrane ISO
 cellular_componentGO:0097546 ciliary base ISO
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Intraflagellar transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Fam20ctm1.1Cqi/Fam20ctm1.1Cqi,Tg(Col1a1-cre)2Bek/0
Genetic Background: involves: 129S6/SvEvTac * CD-1

 MP:0000269 abnormal looping morphogenesis "atypical bending of the primitive heart tube during early development" [J:27443]
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Allelic Composition: Fam20ctm1.1Cqi/Fam20ctm1.1Cqi,Tg(Col1a1-cre)2Bek/0
Genetic Background: involves: 129S6/SvEvTac * CD-1

 MP:0000928 incomplete cephalic closure "arrest of the fusion of the cephalic neural folds" [J:12622]
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Allelic Composition: Fam20ctm1.1Cqi/Fam20ctm1.1Cqi,Tg(Col1a1-cre)2Bek/0
Genetic Background: involves: 129S6/SvEvTac * CD-1

 MP:0001706 abnormal left-right axis patterning "anomaly in the formation or development of the body or a specific organ of the body in relation to the left and right sides of the body or organ" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Fam20ctm1.1Cqi/Fam20ctm1.1Cqi,Tg(Col1a1-cre)2Bek/0
Genetic Background: involves: 129S6/SvEvTac * CD-1

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

Allelic Composition: Fam20ctm1.1Cqi/Fam20ctm1.1Cqi,Tg(Col1a1-cre)2Bek/0
Genetic Background: involves: 129S6/SvEvTac * CD-1

 MP:0001914 hemorrhage "loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Fam20ctm1.1Cqi/Fam20ctm1.1Cqi,Tg(Col1a1-cre)2Bek/0
Genetic Background: involves: 129S6/SvEvTac * CD-1

 MP:0002151 abnormal neural tube morphology/development "anomalous structure of or development of the embryonic neural tube resulting in structural anomaly" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Fam20ctm1.1Cqi/Fam20ctm1.1Cqi,Tg(Col1a1-cre)2Bek/0
Genetic Background: involves: 129S6/SvEvTac * CD-1

 MP:0003400 kinked neural tube "twists or kinks in the embryonic neural tube" [J:66514, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Fam20ctm1.1Cqi/Fam20ctm1.1Cqi,Tg(Col1a1-cre)2Bek/0
Genetic Background: involves: 129S6/SvEvTac * CD-1

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Fam20ctm1.1Cqi/Fam20ctm1.1Cqi,Tg(Col1a1-cre)2Bek/0
Genetic Background: involves: 129S6/SvEvTac * CD-1

 MP:0004132 absent embryonic cilia "absence of cilia on the cells of the embryonic node " [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Fam20ctm1.1Cqi/Fam20ctm1.1Cqi,Tg(Col1a1-cre)2Bek/0
Genetic Background: involves: 129S6/SvEvTac * CD-1

 MP:0004251 failure of looping morphogenesis "failure of the primitive heart tube to initiate or complete looping" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Fam20ctm1.1Cqi/Fam20ctm1.1Cqi,Tg(Col1a1-cre)2Bek/0
Genetic Background: involves: 129S6/SvEvTac * CD-1

 MP:0004252 abnormal direction of looping morphogenesis "deviation from the normal rightward direction of cardiac looping" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Fam20ctm1.1Cqi/Fam20ctm1.1Cqi,Tg(Col1a1-cre)2Bek/0
Genetic Background: involves: 129S6/SvEvTac * 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: Fam20ctm1.1Cqi/Fam20ctm1.1Cqi,Tg(Col1a1-cre)2Bek/0
Genetic Background: involves: 129S6/SvEvTac * CD-1

 MP:0012093 absent nodal flow "absence of the leftward movement of extra-embryonic fluid at the ventral node; nodal flow is autonomously generated by the rotation of cilia that are tilted toward the posterior on cells of the ventral node and is the central process in symmetry breaking on the left-right axis; when nodal cilia are immotile or absent, nodal flow does not occur" [MGI:anna]
Show

Allelic Composition: Fam20ctm1.1Cqi/Fam20ctm1.1Cqi,Tg(Col1a1-cre)2Bek/0
Genetic Background: involves: 129S6/SvEvTac * CD-1

 MP:0012270 cardiac edema "abnormal accumulation of fluid in the interstitial tissues and cavities of the body due to impaired cardiac function or congestive heart failure; usually characterized by increased venous and capillary pressures and often associated with renal sodium retention" [MGI:anna]
Show

Allelic Composition: Fam20ctm1.1Cqi/Fam20ctm1.1Cqi,Tg(Col1a1-cre)2Bek/0
Genetic Background: involves: 129S6/SvEvTac * CD-1

  


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






 

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