ENSMUSG00000047193


Mus musculus

Features
Gene ID: ENSMUSG00000047193
  
Biological name :Dync2h1
  
Synonyms : Cytoplasmic dynein 2 heavy chain 1 / Dync2h1 / Q45VK7
  
Possible biological names infered from orthology : dynein cytoplasmic 2 heavy chain 1 / Q8NCM8
  
Species: Mus musculus
  
Chr. number: 9
Strand: -1
Band: A1
Gene start: 6928503
Gene end: 7184446
  
Corresponding Affymetrix probe sets: 10590690 (MoGene1.0st)   1429250_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000120007
Ensembl peptide - ENSMUSP00000149764
Ensembl peptide - ENSMUSP00000149482
Ensembl peptide - ENSMUSP00000120322
Ensembl peptide - ENSMUSP00000046733
Ensembl peptide - ENSMUSP00000116242
Ensembl peptide - ENSMUSP00000116679
NCBI entrez gene - 110350     See in Manteia.
MGI - MGI:107736
RefSeq - XM_006509826
RefSeq - XM_017313101
RefSeq - XM_017313100
RefSeq - XM_006509827
RefSeq - NM_029851
RefSeq Peptide - NP_084127
swissprot - Q45VK7
swissprot - D3Z025
swissprot - F6QLS2
swissprot - A0A1L1SRI6
swissprot - A0A1L1SS48
Ensembl - ENSMUSG00000047193
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CABZ01072607.1ENSDARG00000113761Danio rerio
 Q8NCM8ENSG00000187240Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Dnah9 / dynein axonemal heavy chain 9 / Q9NYC9*ENSMUSG0000005675224
Dnah7b / DNAH3* / Q8TD57* / dynein axonemal heavy chain 3*ENSMUSG0000004114421
Dnhd1 / dynein heavy chain domain 1 / Q96M86*ENSMUSG0000003088216


Protein motifs (from Interpro)
Interpro ID Name
 IPR003593  AAA+ ATPase domain
 IPR004273  Dynein heavy chain domain
 IPR011704  ATPase, dynein-related, AAA domain
 IPR013594  Dynein heavy chain, domain-1
 IPR013602  Dynein heavy chain, domain-2
 IPR024317  Dynein heavy chain, AAA module D4
 IPR024743  Dynein heavy chain, coiled coil stalk
 IPR026815  Cytoplasmic dynein 2 heavy chain 1
 IPR026983  Dynein heavy chain
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR035699  Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1
 IPR035706  Dynein heavy chain, ATP-binding dynein motor region D5


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007018 microtubule-based movement IEA
 biological_processGO:0007030 Golgi organization ISO
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007368 determination of left/right symmetry IMP
 biological_processGO:0007507 heart development IMP
 biological_processGO:0009953 dorsal/ventral pattern formation IMP
 biological_processGO:0016485 protein processing IMP
 biological_processGO:0021522 spinal cord motor neuron differentiation IGI
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0030182 neuron differentiation IMP
 biological_processGO:0030326 embryonic limb morphogenesis IMP
 biological_processGO:0030900 forebrain development IMP
 biological_processGO:0035721 intraciliary retrograde transport IMP
 biological_processGO:0045880 positive regulation of smoothened signaling pathway IMP
 biological_processGO:0060271 cilium assembly IMP
 biological_processGO:0060976 coronary vasculature development IMP
 biological_processGO:0061512 protein localization to cilium IMP
 biological_processGO:1905515 non-motile cilium assembly IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005794 Golgi apparatus ISO
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005868 cytoplasmic dynein complex IBA
 cellular_componentGO:0005874 microtubule ISO
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0005930 axoneme IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030286 dynein complex IEA
 cellular_componentGO:0031514 motile cilium IDA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0045177 apical part of cell IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003774 motor activity IEA
 molecular_functionGO:0003777 microtubule motor activity IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008569 ATP-dependent microtubule motor activity, minus-end-directed ISO
 molecular_functionGO:0016887 ATPase activity IEA
 molecular_functionGO:0045503 dynein light chain binding IBA
 molecular_functionGO:0045505 dynein intermediate chain binding IBA
 molecular_functionGO:0051959 dynein light intermediate chain binding IBA


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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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: Slc34a1tm1Hten/Slc34a1tm1Hten
Genetic Background: B6.129S2-Slc34a1tm1Hten/J

 MP:0000428 abnormal craniofacial morphology "anomalous structure or development of the face and/or cranium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Cdkn1atm1Led/Cdkn1atm1Led,Kdm8tm1.2Tasu/Kdm8tm1.2Tasu
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C3H * C57BL/6

 MP:0000452 abnormal mouth morphology "anomalous structure or development of the oral cavity" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Cdkn1atm1Led/Cdkn1atm1Led,Kdm8tm1.2Tasu/Kdm8tm1.2Tasu
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C3H * C57BL/6

 MP:0000520 absent kidney "missing paired organs that excrete urine" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49471]
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Allelic Composition: Dync2h1b2b414Clo/Dync2h1b2b414Clo
Genetic Background: C57BL/6J-Dync2h1b2b414Clo

 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,Smobnb/Smobnb
Genetic Background: involves: C57BL/6J

Allelic Composition: Dync2h1b2b414Clo/Dync2h1b2b414Clo
Genetic Background: C57BL/6J-Dync2h1b2b414Clo

 MP:0000564 syndactyly "any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Dync2h1b2b414Clo/Dync2h1b2b414Clo
Genetic Background: C57BL/6J-Dync2h1b2b414Clo

 MP:0000572 abnormal autopod morphology "malformation of the hand or foot" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Cdkn1atm1Led/Cdkn1atm1Led,Kdm8tm1.2Tasu/Kdm8tm1.2Tasu
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C3H * C57BL/6

 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,Smobnb/Smobnb
Genetic Background: involves: C57BL/6J

 MP:0000937 abnormal motor neuron morphology "malformation or absence of cells that innervate an effector (muscle or glandular) tissue; responsible for transmission of motor impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
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Allelic Composition: Dync2h1mmi/Dync2h1mmi,Kif7maki/Kif7maki,Tg(Hlxb9-GFP)1Tmj/?
Genetic Background: involves: C57BL/6J * FVB/N

Allelic Composition: Dync2h1mmi/Dync2h1mmi,Tg(Hlxb9-GFP)1Tmj/?
Genetic Background: involves: C57BL/6J * FVB/N

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

 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: Cdkn1atm1Led/Cdkn1atm1Led,Kdm8tm1.2Tasu/Kdm8tm1.2Tasu
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C3H * C57BL/6

 MP:0002132 abnormal respiratory system morphology "anomalous structure of pulmonary tissues " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cdkn1atm1Led/Cdkn1atm1Led,Kdm8tm1.2Tasu/Kdm8tm1.2Tasu
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C3H * 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: Ift172wim/Ift172wim,Kif7maki/Kif7maki,Tg(Hlxb9-GFP)1Tmj/?
Genetic Background: involves: C57BL/6J * FVB/N

 MP:0002152 abnormal brain morphology "anomalous structure of or abnormal development of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, http://cancerweb.ncl.ac.uk]
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Allelic Composition: Dync2h1lln/Dync2h1lln
Genetic Background: involves: C57BL/6J

Allelic Composition: Dync2h1Gt(RRM278)Byg/Dync2h1Gt(RRM278)Byg
Genetic Background: involves: 129P2/OlaHsd

 MP:0002639 micrognathia "abnormally reduced size of the jaws, especially of the mandible" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Dync2h1b2b414Clo/Dync2h1b2b414Clo
Genetic Background: C57BL/6J-Dync2h1b2b414Clo

 MP:0003321 tracheoesophageal fistula "an abnormal passage between the esophagus and the trachea, acquired or congenital, often associated with esophageal atresia" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Dync2h1b2b414Clo/Dync2h1b2b414Clo
Genetic Background: C57BL/6J-Dync2h1b2b414Clo

 MP:0004017 duplex kidney "a kidney that is split into two separate collecting systems; there may be a duplex ureter or a single ureter; may present unilaterally or bilaterally" [rbabiuk:Randall Babiuk, Mouse Genome Informatics Curator]
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Allelic Composition: Dync2h1b2b414Clo/Dync2h1b2b414Clo
Genetic Background: C57BL/6J-Dync2h1b2b414Clo

 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: Ift172wim/Ift172wim,Smobnb/Smobnb
Genetic Background: involves: C57BL/6J

Allelic Composition: Dync2h1Gt(RRM278)Byg/Dync2h1lln
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Dync2h1Gt(RRM278)Byg/Dync2h1Gt(RRM278)Byg
Genetic Background: involves: 129P2/OlaHsd

 MP:0005157 holoprosencephaly "presence of a single forebrain hemisphere or lobe; often accompanied by a deficit in median facial development" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:83058]
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Allelic Composition: Dync2h1b2b414Clo/Dync2h1b2b414Clo
Genetic Background: C57BL/6J-Dync2h1b2b414Clo

 MP:0006063 abnormal inferior vena cava morphology "structural malformation in the principal vein draining blood from the lower portion of the body" [smb:Susan M Bello, Mouse Genome Informatics Curator, Taber s Cyclopedic Medical Dictionary:19th edition: ISBN N 0-8036-0655-99]
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Allelic Composition: Dync2h1b2b414Clo/Dync2h1b2b414Clo
Genetic Background: C57BL/6J-Dync2h1b2b414Clo

 MP:0006197 ocular hypotelorism "the distance between the eyes is reduced" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Dync2h1b2b414Clo/Dync2h1b2b414Clo
Genetic Background: C57BL/6J-Dync2h1b2b414Clo

 MP:0010406 absent atrial septum "absence of the thin membranous structure between the two heart atria" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Dync2h1b2b414Clo/Dync2h1b2b414Clo
Genetic Background: C57BL/6J-Dync2h1b2b414Clo

 MP:0010413 complete atrioventricular septal defect "a type of atrioventricular septal defect in which a single atrioventricular valve annulus, a common atrioventricular valve, and a defect of the inlet ventricular septum are observed; deficiency of the atrioventricular septum also results in the presence of a large primum atrial septal defect" [http://emedicine.medscape.com]
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Allelic Composition: Dync2h1b2b414Clo/Dync2h1b2b414Clo
Genetic Background: C57BL/6J-Dync2h1b2b414Clo

 MP:0010476 coronary fistula "an abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering either a chamber of the heart (coronary-cameral fistula) or any segment of the systemic or pulmonary circulation (coronary arteriovenous fistula)" [http://emedicine.medscape.com]
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Allelic Composition: Dync2h1b2b414Clo/Dync2h1b2b414Clo
Genetic Background: C57BL/6J-Dync2h1b2b414Clo

 MP:0010551 abnormal coronary vessel morphology "any structural anomaly of any of the arteries or veins that supply blood to the heart or return blood from the heart muscles to the circulation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Dync2h1b2b414Clo/Dync2h1b2b414Clo
Genetic Background: C57BL/6J-Dync2h1b2b414Clo

 MP:0010635 aorta pulmonary collateral arteries "small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus" [PMID:16483787]
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Allelic Composition: Dync2h1b2b414Clo/Dync2h1b2b414Clo
Genetic Background: C57BL/6J-Dync2h1b2b414Clo

 MP:0010975 abnormal lung lobe morphology "any structural anomaly of any of the anatomically and functionally distinct subunits (lobes) comprising the left or right lung, where each lobe receives air from its own secondary bronchus and is separated from it neighbors by one or more fissures (walls of connective tissue)" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Dync2h1b2b414Clo/Dync2h1b2b414Clo
Genetic Background: C57BL/6J-Dync2h1b2b414Clo

 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: Dync2h1lln/Dync2h1lln
Genetic Background: involves: C57BL/6J

Allelic Composition: Dync2h1Gt(RRM278)Byg/Dync2h1lln
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Dync2h1Gt(RRM278)Byg/Dync2h1Gt(RRM278)Byg
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Dync2h1lln/Dync2h1lln,Ptch1tm1Mps/Ptch1tm1Mps
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Dync2h1Tg(Tyr)2307AOve/Dync2h1Tg(Tyr)2307AOve
Genetic Background: FVB/N-Dync2h1Tg(Tyr)2307AOve

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000047193 Q45VK7 / Dync2h1 / Cytoplasmic dynein 2 heavy chain 1 / Q8NCM8* / dynein cytoplasmic 2 heavy chain 1*  / complex






 

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