ENSMUSG00000068699


Mus musculus

Features
Gene ID: ENSMUSG00000068699
  
Biological name :Flnc
  
Synonyms : Filamin-C / Flnc / Q8VHX6
  
Possible biological names infered from orthology : Q14315
  
Species: Mus musculus
  
Chr. number: 6
Strand: 1
Band: A3.3
Gene start: 29433256
Gene end: 29461883
  
Corresponding Affymetrix probe sets: 10536845 (MoGene1.0st)   1447812_x_at (Mouse Genome 430 2.0 Array)   1449073_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000064163
Ensembl peptide - ENSMUSP00000099139
NCBI entrez gene - 68794     See in Manteia.
MGI - MGI:95557
RefSeq - NM_001081185
RefSeq - NM_001311074
RefSeq Peptide - NP_001074654
RefSeq Peptide - NP_001298003
swissprot - Q8VHX6
Ensembl - ENSMUSG00000068699
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 flncaENSDARG00000018566Danio rerio
 flncbENSDARG00000018820Danio rerio
 FLNCENSG00000128591Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Flna / Q8BTM8 / Filamin-A / P21333*ENSMUSG0000003132870
Flnb / Q80X90 / Filamin-B / O75369*ENSMUSG0000002527867
Syne2 / Q6ZWQ0 / spectrin repeat containing, nuclear envelope 2 / Q8WXH0* / spectrin repeat containing nuclear envelope protein 2*ENSMUSG0000006345015
Clmn / Q8C5W0 / Calmin / Q96JQ2*ENSMUSG000000210976
Syne1 / Q6ZWR6 / Mus musculus spectrin repeat containing, nuclear envelope 1 (Syne1), transcript variant 5, mRNA. / Q8NF91* / spectrin repeat containing nuclear envelope protein 1*ENSMUSG000000960546


Protein motifs (from Interpro)
Interpro ID Name
 IPR001298  Filamin/ABP280 repeat
 IPR001589  Actinin-type actin-binding domain, conserved site
 IPR001715  Calponin homology domain
 IPR013783  Immunoglobulin-like fold
 IPR014756  Immunoglobulin E-set
 IPR017868  Filamin/ABP280 repeat-like
 IPR032461  Filamin C
 IPR036872  CH domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0030029 actin filament-based process TAS
 biological_processGO:0048747 muscle fiber development IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0015629 actin cytoskeleton TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016528 sarcoplasm IEA
 cellular_componentGO:0030018 Z disc IEA
 cellular_componentGO:0042383 sarcolemma IEA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008092 cytoskeletal protein binding IEA
 molecular_functionGO:0030506 ankyrin binding IEA
 molecular_functionGO:0042802 identical protein binding ISO
 molecular_functionGO:0051015 actin filament binding IEA


Pathways (from Reactome)
Pathway description
Cell-extracellular matrix interactions


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000729 abnormal myogenesis "anomaly in embryonic formation of muscle cells or fibers" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Fgf10tm1Wss/Fgf10tm1Wss
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0000759 abnormal skeletal muscle morphology "anomalous structure of any of the striated muscle fibers connected at either or both extremeties with the bony framework of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Fgf10tm1Wss/Fgf10tm1Wss
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
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Allelic Composition: Mdm4tm2Glo/Mdm4tm2.1Glo,Tg(Myh6-cre)2182Mds/0,Trp53tm1Tyj/Trp53tm1Brn
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6J * FVB/N

 MP:0001953 respiratory failure "cessation of or failure to commence breathing" [MGI:cls, J:60159]
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Allelic Composition: Fgf10tm1Wss/Fgf10tm1Wss
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0002279 abnormal diaphragm morphology "structural defect in the thin musculomebraneous barrier that separates the abdominal and thoracic cavities; these muscles often used for breathing control" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Fgf10tm1Wss/Fgf10tm1Wss
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0002280 abnormal intercostal muscle morphology "anomaly in the respiratory muscles that arise from the lower border of one rib and insert into the upper border of the adjoining rib " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fgf10tm1Wss/Fgf10tm1Wss
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0002757 reduced vertical activity "lesser than average time spent jumping or rearing" [J:82829, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Mdm4tm2Glo/Mdm4tm2.1Glo,Tg(Myh6-cre)2182Mds/0,Trp53tm1Tyj/Trp53tm1Brn
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6J * FVB/N

 MP:0003081 abnormal soleus morphology "anomaly in the the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, smb:Susan M. Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Fgf10tm1Wss/Fgf10tm1Wss
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0003083 abnormal tibialis anterior morphology "anomaly in the the muscle of the shin that is responsible for dorsiflexion and inversion of the foot" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Fgf10tm1Wss/Fgf10tm1Wss
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0003084 abnormal skeletal muscle fiber morphology "anomalous structure of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Fgf10tm1Wss/Fgf10tm1Wss
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0004087 abnormal muscle fiber morphology "malformed or poorly developed muscle fibers, the cylindrical multinucleated muscle cells that contract when stimulated" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mdm4tm2Glo/Mdm4tm2.1Glo,Tg(Myh6-cre)2182Mds/0,Trp53tm1Tyj/Trp53tm1Brn
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6J * FVB/N

 MP:0004090 abnormal sarcomere morphology "any structural abnormality in the segment of a myofibril between two Z lines comprised of multi-protein complexes composed of three different filament systems; these systems work together to contract and relax muscle" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Mdm4tm2Glo/Mdm4tm2.1Glo,Tg(Myh6-cre)2182Mds/0,Trp53tm1Tyj/Trp53tm1Brn
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6J * FVB/N

 MP:0004091 abnormal Z lines "any structural abnormality in the cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Mdm4tm2Glo/Mdm4tm2.1Glo,Tg(Myh6-cre)2182Mds/0,Trp53tm1Tyj/Trp53tm1Brn
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6J * FVB/N

 MP:0004200 reduced fetal size "smaller proportions of a fetus compared to littermates (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Fgf10tm1Wss/Fgf10tm1Wss
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0004246 abnormal extensor digitorum longus morphology "any structural anomaly of penniform muscle of the lateral front part of the leg responsible for extension of the toes and dorsiflexion of the ankle" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Fgf10tm1Wss/Fgf10tm1Wss
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0004819 decreased skeletal muscle mass "reduction in the physical bulk, or total amount of matter contained within skeletal muscle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Fgf10tm1Wss/Fgf10tm1Wss
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0005498 hyporesponsive to tactile stimuli "reduced reflex action normally induced by touch or pain" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Fgf10tm1Wss/Fgf10tm1Wss
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0009403 increased variability of skeletal muscle fiber size "greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Fgf10tm1Wss/Fgf10tm1Wss
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0009404 centrally nucleated skeletal muscle fibers "cell nuclei are located at a position in the center of the skeletal myofiber, instead of their normal location at the periphery of the fiber; may be indicative of centronuclear myopathy" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Fgf10tm1Wss/Fgf10tm1Wss
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0009406 decreased skeletal muscle fiber number "decreased number of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Fgf10tm1Wss/Fgf10tm1Wss
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0009412 skeletal muscle fiber degeneration "pathological deterioration of skeletal muscle fiber tissue, often accompanied by loss of function" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mdm4tm2Glo/Mdm4tm2.1Glo,Tg(Myh6-cre)2182Mds/0,Trp53tm1Tyj/Trp53tm1Brn
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6J * FVB/N

 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: Mdm4tm2Glo/Mdm4tm2.1Glo,Tg(Myh6-cre)2182Mds/0,Trp53tm1Tyj/Trp53tm1Brn
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6J * FVB/N

 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: Mdm4tm2Glo/Mdm4tm2.1Glo,Tg(Myh6-cre)2182Mds/0,Trp53tm1Tyj/Trp53tm1Brn
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6J * FVB/N

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Fgf10tm1Wss/Fgf10tm1Wss
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0011940 decreased food intake "reduction in the total number of calories/food amount taken in over time when compared to the normal state" [MGI:csmith]
Show

Allelic Composition: Mdm4tm2Glo/Mdm4tm2.1Glo,Tg(Myh6-cre)2182Mds/0,Trp53tm1Tyj/Trp53tm1Brn
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6J * FVB/N

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000062825 Actg1 / P63260 / Actin, cytoplasmic 2 Actin, cytoplasmic 2, N-terminally processed / P63261* / actin gamma 1*  / reaction / complex
 ENSMUSG00000006219 Fblim1 / Q71FD7 / Filamin-binding LIM protein 1 / Q8WUP2*  / complex / reaction
 ENSMUSG00000029580 Actb / P60710 / Actin, cytoplasmic 1 Actin, cytoplasmic 1, N-terminally processed / POTEJ* / P60709* / P0CG39* / actin beta* / POTE ankyrin domain family member J*  / complex / reaction






 

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