ENSMUSG00000030323


Mus musculus

Features
Gene ID: ENSMUSG00000030323
  
Biological name :Ift122
  
Synonyms : Ift122 / Intraflagellar transport / Q6NWV3
  
Possible biological names infered from orthology : intraflagellar transport 122 / Q9HBG6
  
Species: Mus musculus
  
Chr. number: 6
Strand: 1
Band: E3
Gene start: 115853470
Gene end: 115926699
  
Corresponding Affymetrix probe sets: 10540952 (MoGene1.0st)   1427239_at (Mouse Genome 430 2.0 Array)   1441259_s_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000045468
Ensembl peptide - ENSMUSP00000108545
Ensembl peptide - ENSMUSP00000108547
Ensembl peptide - ENSMUSP00000138535
NCBI entrez gene - 81896     See in Manteia.
MGI - MGI:1932386
RefSeq - XM_006506799
RefSeq - NM_001167763
RefSeq - NM_031177
RefSeq - XM_006506797
RefSeq - XM_006506798
RefSeq Peptide - NP_001161235
RefSeq Peptide - NP_112454
swissprot - Q6NWV3
swissprot - S4R282
swissprot - E9Q9G8
Ensembl - ENSMUSG00000030323
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 IFT122ENSGALG00000008452Gallus gallus
 IFT122ENSG00000163913Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR001680  WD40 repeat
 IPR011990  Tetratricopeptide-like helical domain superfamily
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR017986  WD40-repeat-containing domain
 IPR036322  WD40-repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001843 neural tube closure IMP
 biological_processGO:0007227 signal transduction downstream of smoothened IMP
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0009953 dorsal/ventral pattern formation IMP
 biological_processGO:0010172 embryonic body morphogenesis IMP
 biological_processGO:0021914 negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning IMP
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0035050 embryonic heart tube development IMP
 biological_processGO:0035115 embryonic forelimb morphogenesis IMP
 biological_processGO:0035720 intraciliary anterograde transport IMP
 biological_processGO:0035721 intraciliary retrograde transport IMP
 biological_processGO:0042733 embryonic digit morphogenesis IMP
 biological_processGO:0045879 negative regulation of smoothened signaling pathway IMP
 biological_processGO:0048593 camera-type eye morphogenesis IMP
 biological_processGO:0050680 negative regulation of epithelial cell proliferation IMP
 biological_processGO:0060173 limb development IMP
 biological_processGO:0060271 cilium assembly IGI
 biological_processGO:0060830 ciliary receptor clustering involved in smoothened signaling pathway IGI
 biological_processGO:0060831 smoothened signaling pathway involved in dorsal/ventral neural tube patterning IGI
 biological_processGO:0060971 embryonic heart tube left/right pattern formation IMP
 biological_processGO:0061512 protein localization to cilium IMP
 biological_processGO:0072594 establishment of protein localization to organelle IMP
 biological_processGO:1905515 non-motile cilium assembly IMP
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0030991 intraciliary transport particle A IEA
 cellular_componentGO:0032391 photoreceptor connecting cilium IDA
 cellular_componentGO:0036064 ciliary basal body IDA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0097546 ciliary base IDA
 molecular_functionGO:0003674 molecular_function ND
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
Hedgehog off state
Intraflagellar transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
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Allelic Composition: Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc
Genetic Background: B6.129-Mbd4/Ift122tm1Abc

 MP:0000358 abnormal cell content/ morphology "structural anomalies of the minute protoplasmic masses that make up organized tissues and which are the fundamental structural and functional units of living organisms" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Apoetm1Unc/Apoetm1Unc,Cd36tm1Mfe/Cd36tm1Mfe
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

Allelic Composition: Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc
Genetic Background: B6.129-Mbd4/Ift122tm1Abc

 MP:0000432 abnormal head morphology "anomalous structure or development of the portion of the body containing the brain and organs of sight, hearing, taste, and smell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc
Genetic Background: B6.129-Mbd4/Ift122tm1Abc

 MP:0000562 polydactyly "greater than 5 digits on one or more autopods" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ift172wim/Ift172wim
Genetic Background: involves: C3HeB/FeJ * C57BL/6J

 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: Ift172wim/Ift172wim
Genetic Background: involves: C3HeB/FeJ * C57BL/6J

Allelic Composition: Ift122sopb/Ift122sopb
Genetic Background: C3Fe.B6-Ift122sopb

Allelic Composition: Ift122sopb/Ift122sopb,Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3HeB/FeJ * C57BL/6J

Allelic Composition: Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc
Genetic Background: B6.129-Mbd4/Ift122tm1Abc

 MP:0000929 open neural tube "incomplete invagination and fusion of the neuroepithelial layer in early development" [MGI:CLS, J:53370, J:62571]
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Allelic Composition: Ift122sopb/Ift122sopb
Genetic Background: C3Fe.B6-Ift122sopb

Allelic Composition: Ift122sopb/Ift122sopb,Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3HeB/FeJ * C57BL/6J

Allelic Composition: Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc
Genetic Background: B6.129-Mbd4/Ift122tm1Abc

 MP:0000955 abnormal spinal cord morphology "malformation or disorganization of the cylindrical tissue of the vertebral canal that extends from the medulla oblongata to the conus medullaris" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ift172wim/Ift172wim
Genetic Background: involves: C3HeB/FeJ * C57BL/6J

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Hprttm1a(EUCOMM)Hmgu/Hprttm1a(EUCOMM)Hmgu
Genetic Background: C57BL/6N-Hprttm1a(EUCOMM)Hmgu/Ieg

 MP:0001286 abnormal eye development "malformation or arrest of differentiation of the visual organ" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:49840]
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Allelic Composition: Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc
Genetic Background: B6.129-Mbd4/Ift122tm1Abc

 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]
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Allelic Composition: Apoetm1Unc/Apoetm1Unc,Cd36tm1Mfe/Cd36tm1Mfe
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

Allelic Composition: Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc
Genetic Background: B6.129-Mbd4/Ift122tm1Abc

 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]
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Allelic Composition: Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc
Genetic Background: B6.129-Mbd4/Ift122tm1Abc

 MP:0002092 abnormal eye morphology "abnormal development of the eye tissues resulting in morphological abnormality or abnormal structure of the visual system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Apoetm1Unc/Apoetm1Unc,Cd36tm1Mfe/Cd36tm1Mfe
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

 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]
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Allelic Composition: Apoetm1Unc/Apoetm1Unc,Cd36tm1Mfe/Cd36tm1Mfe
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

Allelic Composition: Ift122sopb/Ift122sopb,Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3HeB/FeJ * C57BL/6J

Allelic Composition: Gli2tm1Alj/Gli2tm1Alj,Ift122sopb/Ift122sopb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3HeB/FeJ * C57BL/6J

Allelic Composition: Ift122sopb/Ift122sopb,Kif3atm1Gsn/Kif3atm1Gsn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3HeB/FeJ * C57BL/6J

Allelic Composition: Ift122sopb/Ift122sopb,Smotm1Amc/Smotm1Amc
Genetic Background: involves: 129X1/SvJ * C3Heb/FeJ * C57BL/6J

Allelic Composition: Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc
Genetic Background: B6.129-Mbd4/Ift122tm1Abc

 MP:0002766 situs inversus "lateral transposition of the viscera of the thorax and abdomen, sometimes incomplete" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc
Genetic Background: B6.129-Mbd4/Ift122tm1Abc

 MP:0003257 abnormal abdominal wall "malformation in the margins that enclose the abdominal cavity; the major part is muscular but also includes skin, subcutaneous fat, fascia and the parietal peritoneum" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc
Genetic Background: B6.129-Mbd4/Ift122tm1Abc

 MP:0004045 abnormal cell cycle checkpoint function "anomaly in the amount of time spent at the points in the cell cycle (end of G1 phase, end of G2 phase, and during metaphase) which prevent the cell from progressing to the next phase when conditions are unfavorable" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Ift122sopb/Ift122sopb,Smotm1Amc/Smotm1Amc
Genetic Background: involves: 129X1/SvJ * C3Heb/FeJ * C57BL/6J

 MP:0004083 polysyndactyly "greater than 5 digits present on an autopod with interdigital webbing also present" [rbabiuk:Randall Babiuk, Mouse Genome Informatics Curator]
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Allelic Composition: Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc
Genetic Background: B6.129-Mbd4/Ift122tm1Abc

 MP:0004100 abnormal spinal cord interneuron morphology "malformation or absence of neurons that exclusively interact with other neurons in the spinal cord" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc
Genetic Background: B6.129-Mbd4/Ift122tm1Abc

 MP:0004131 abnormal embryonic ciliary morphology "any structural malformation of the earliest cilia of the mouse embryo found on the cells of the embryonic node" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Ift122sopb/Ift122sopb
Genetic Background: C3Fe.B6-Ift122sopb

 MP:0004132 absent embryonic cilia "absence of cilia on the cells of the embryonic node " [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Ift122sopb/Ift122sopb,Kif3atm1Gsn/Kif3atm1Gsn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3HeB/FeJ * C57BL/6J

Allelic Composition: Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc
Genetic Background: B6.129-Mbd4/Ift122tm1Abc

 MP:0004188 delayed embryo turning "completion of axial rotation occurs later than in controls but is eventually completed" [smb:Susan M Bello, Mouse Genome Informatics Curator ""]
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Allelic Composition: Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc
Genetic Background: B6.129-Mbd4/Ift122tm1Abc

 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"]
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Allelic Composition: Ift122sopb/Ift122sopb
Genetic Background: C3Fe.B6-Ift122sopb

Allelic Composition: Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc
Genetic Background: B6.129-Mbd4/Ift122tm1Abc

 MP:0005192 increased motor neuron number "greater than the normal number of cells that innervate an effector (muscle or glandular) tissue" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc
Genetic Background: B6.129-Mbd4/Ift122tm1Abc

 MP:0005230 ectrodactyly "absence of the middle rays, i.e., the central digits of the paws; usually associated with cleft paws and may also include syndactyly or aplasia of remaining digits" [OMIM:Online Mendelian Inheritance in Man]
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Allelic Composition: Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc
Genetic Background: B6.129-Mbd4/Ift122tm1Abc

 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: Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc
Genetic Background: B6.129-Mbd4/Ift122tm1Abc

 MP:0008874 decreased sensitivity to xenobiotics "increase in the dose or concentration of a foreign compound required to induce a specific level of response" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ift122sopb/Ift122sopb,Smotm1Amc/Smotm1Amc
Genetic Background: involves: 129X1/SvJ * C3Heb/FeJ * C57BL/6J

 MP:0008944 decreased sensitivity to induced cell death "increase in the exposure level to an agent that is required to induce cessation of function at the cellular level" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ift122sopb/Ift122sopb,Smotm1Amc/Smotm1Amc
Genetic Background: involves: 129X1/SvJ * C3Heb/FeJ * C57BL/6J

 MP:0009743 preaxial polydactyly "duplication of all or part of the first ray on one or more of the autopods" [PMID:19125433]
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Allelic Composition: Ift122sopb/Ift122sopb
Genetic Background: C3Fe.B6-Ift122sopb

 MP:0010395 abnormal branchial arch development "abnormal formation of the of the transient structures of the embryo that develop into regions of the head, neck and ears" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc
Genetic Background: B6.129-Mbd4/Ift122tm1Abc

 MP:0010808 right-sided stomach "stomach is present on the right side of the body instead of the left" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc
Genetic Background: B6.129-Mbd4/Ift122tm1Abc

 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]
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Allelic Composition: Ift172wim/Ift172wim
Genetic Background: involves: C3HeB/FeJ * C57BL/6J

Allelic Composition: Ift122sopb/Ift122sopb
Genetic Background: C3Fe.B6-Ift122sopb

Allelic Composition: Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc
Genetic Background: B6.129-Mbd4/Ift122tm1Abc

 MP:0011998 decreased embryonic cilium length "reduced length of the cilia of the mouse embryo found on the cells of the embryonic node" [MGI:csmith]
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Allelic Composition: Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc
Genetic Background: B6.129-Mbd4/Ift122tm1Abc

 MP:0012531 delayed limb development "late onset of the induction and/or differentiation of the limbs" [MGI:anna]
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Allelic Composition: Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc
Genetic Background: B6.129-Mbd4/Ift122tm1Abc

 MP:0012720 elongated neck "increased length of the neck" [MGI:anna]
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Allelic Composition: Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc
Genetic Background: B6.129-Mbd4/Ift122tm1Abc

 MP:0030312 enlarged pharyngeal arch "increased size of one or more of the transient structures of the embryo that develop into regions of the head, neck and ears" [MGI:anna]
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Allelic Composition: Ift122sopb/Ift122sopb
Genetic Background: C3Fe.B6-Ift122sopb

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000037890 Wdr19 / Q3UGF1 / WD repeat domain 19 / Q8NEZ3*  / complex
 ENSMUSG00000024169 E9PY46 / Ift140 / Intraflagellar transport / Q96RY7* / intraflagellar transport 140*  / complex
 ENSMUSG00000040836 B2RPY5 / Gpr161 / G protein-coupled receptor 161 / Q8N6U8*  / complex / reaction
 ENSMUSG00000066643 Wdr35 / Q8BND3 / WD repeat domain 35 / Q9P2L0*  / complex
 ENSMUSG00000001521 Tulp3 / O88413 / tubby-like protein 3 / O75386*  / reaction / complex
 ENSMUSG00000034848 Q0HA38 / Ttc21b / tetratricopeptide repeat domain 21B / Q7Z4L5*  / complex






 

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