ENSMUSG00000020396


Mus musculus

Features
Gene ID: ENSMUSG00000020396
  
Biological name :Nefh
  
Synonyms : Nefh / Neurofilament heavy polypeptide / P19246
  
Possible biological names infered from orthology : neurofilament heavy / P12036
  
Species: Mus musculus
  
Chr. number: 11
Strand: -1
Band: A1
Gene start: 4938754
Gene end: 4948064
  
Corresponding Affymetrix probe sets: 10383920 (MoGene1.0st)   1424847_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000091061
NCBI entrez gene - 380684     See in Manteia.
MGI - MGI:97309
RefSeq - NM_010904
RefSeq Peptide - NP_035034
swissprot - P19246
Ensembl - ENSMUSG00000020396
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 NEFHENSGALG00000008085Gallus gallus
 NEFHENSG00000100285Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Nefm / neurofilament medium / P07197*ENSMUSG0000002205429
Ina / P46660 / internexin neuronal intermediate filament protein, alpha / Q16352*ENSMUSG0000003433619
Nefl / P08551 / Neurofilament light polypeptide / P07196* / neurofilament light*ENSMUSG0000002205518
Des / P31001 / Desmin / P17661*ENSMUSG0000002620816
Vim / P20152 / vimentin / P08670*ENSMUSG0000002672816
Prph / peripherin / P41219*ENSMUSG0000002348415
Gfap / P03995 / Glial fibrillary acidic protein / P14136*ENSMUSG0000002093215
Lmnb2 / P21619 / Lamin-B2 / Q03252*ENSMUSG0000006207512
Lmnb1 / P14733 / Lamin-B1 / P20700*ENSMUSG0000002459011
Lmna / P48678 / Prelamin-A/C Lamin-A/C / P02545* / lamin A/C*ENSMUSG0000002806311


Protein motifs (from Interpro)
Interpro ID Name
 IPR001664  Intermediate filament protein
 IPR010790  Repeat of unknown function DUF1388
 IPR018039  Intermediate filament protein, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000226 microtubule cytoskeleton organization IGI
 biological_processGO:0033693 neurofilament bundle assembly IEA
 biological_processGO:0045104 intermediate filament cytoskeleton organization IMP
 biological_processGO:0045110 intermediate filament bundle assembly IGI
 biological_processGO:0048936 peripheral nervous system neuron axonogenesis IMP
 biological_processGO:0060052 neurofilament cytoskeleton organization IMP
 biological_processGO:0061564 axon development IMP
 biological_processGO:1902513 regulation of organelle transport along microtubule IEA
 biological_processGO:1990830 cellular response to leukemia inhibitory factor IEP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005882 intermediate filament IEA
 cellular_componentGO:0005883 neurofilament IDA
 cellular_componentGO:0014069 postsynaptic density IDA
 cellular_componentGO:0030424 axon ISO
 cellular_componentGO:0043209 myelin sheath IDA
 cellular_componentGO:0097418 neurofibrillary tangle IEA
 molecular_functionGO:0005198 structural molecule activity ISO
 molecular_functionGO:0019901 protein kinase binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000755 hindlimb paralysis "loss of power of voluntary movement in the muscles of the hindlimb through injury or disease of it or its nerve supply" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Nefhtm1Ral/Nefhtm1Ral
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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]
Show

Allelic Composition: Mmp14tm1Ski/Mmp14tm1Ski
Genetic Background: B6.Cg-Mmp14tm1Ski

 MP:0000939 reduced motor neuron number "fewer than normal numbers of cells that innervate an effector (muscle or glandular) tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
Show

Allelic Composition: Pdgfratm1Sor/Pdgfratm7Sor
Genetic Background: either: (involves: 129S4/SvJaeSor) or (involves: 129S4/SvJaeSor * C57BL/6J)

 MP:0000965 abnormal sensory neuron morphology "malformation or absence of cells that innervate an effector (muscle or glandular) tissue; responsible for transmission of sensory impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
Show

Allelic Composition: Mmp14tm1Ski/Mmp14tm1Ski
Genetic Background: B6.Cg-Mmp14tm1Ski

 MP:0002882 abnormal neuron "anomaly in the functional cells of the nervous system that receive, conduct, and transmit impulses " [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
Show

Allelic Composition: Nefhtm1Jpj/Nefhtm1Jpj,Nefmtm1Jpj/Nefmtm1Jpj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003651 abnormal axon outgrowth "defect/abnormality in the ability of an axon to extend from a neuron cell body" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator, J:96121]
Show

Allelic Composition: Mmp14tm1Ski/Mmp14tm1Ski
Genetic Background: B6.Cg-Mmp14tm1Ski

 MP:0003993 abnormal ventral spinal root morphology "any anomaly, deformity, or malformation of the anterior bundle of nerves emerging from the spinal cord to join with the posterior/dorsal nerve bundle at each spinal cord segment to form one of the 31 paired peripheral nerves" [brs:Beverly Richards-Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Nefhtm1Jpj/Nefhtm1Jpj,Nefmtm1Jpj/Nefmtm1Jpj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Nefhtm1Jpj/Nefhtm1Jpj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004768 abnormal axonal transport "any functional anomaly of the directed movement of organelles or vesicles along microtubules in nerve cell axons" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nefhtm1Jpj/Nefhtm1Jpj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0005402 abnormal action potential "change in the electric response of a nerve or other excitable tissue to its stimulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Nefhtm2Dwc/Nefhtm2Dwc,Nefmtm1Mvr/Nefmtm1Mvr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005404 abnormal axon morphology "anomaly in the structure of the single process of a nerve cell that normally conducts impulses away from the cell body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Nefhtm1Jpj/Nefhtm1Jpj,Nefmtm1Jpj/Nefmtm1Jpj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Nefhtm1Jpj/Nefhtm1Jpj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Nefhtm2Dwc/Nefhtm2Dwc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Nefhtm2Dwc/Nefhtm2Dwc,Nefmtm1Mvr/Nefmtm1Mvr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Nefhtm1Ral/Nefhtm1Ral
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Nefhtm1Ral/Nefhtm1Ral,Nefmtm1Ral/Nefmtm1Ral
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Nefhtm1Ral/Nefhtm1Ral
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * Swiss Webster)

Allelic Composition: Nefhtm1Ral/Nefh+
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * Swiss Webster)

 MP:0005405 axon degeneration "retrogressive pathologic change in the single process of a nerve cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Nefhtm1Ral/Nefhtm1Ral
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Nefhtm1Ral/Nefhtm1Ral,Nefmtm1Ral/Nefmtm1Ral
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0009937 abnormal neuron differentiation "abnormal growth or development of the cells of the nervous system that receive, conduct, and transmit impulses" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nefhtm2Dwc/Nefhtm2Dwc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

  


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






 

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