ENSMUSG00000063450


Mus musculus

Features
Gene ID: ENSMUSG00000063450
  
Biological name :Syne2
  
Synonyms : Q6ZWQ0 / spectrin repeat containing, nuclear envelope 2 / Syne2
  
Possible biological names infered from orthology : Q8WXH0 / spectrin repeat containing nuclear envelope protein 2
  
Species: Mus musculus
  
Chr. number: 12
Strand: 1
Band: C3
Gene start: 75818134
Gene end: 76110926
  
Corresponding Affymetrix probe sets: 10396485 (MoGene1.0st)   10396511 (MoGene1.0st)   10396606 (MoGene1.0st)   10396608 (MoGene1.0st)   1427982_s_at (Mouse Genome 430 2.0 Array)   1438585_at (Mouse Genome 430 2.0 Array)   1442285_at (Mouse Genome 430 2.0 Array)   1444074_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000118142
Ensembl peptide - ENSMUSP00000122781
Ensembl peptide - ENSMUSP00000121517
Ensembl peptide - ENSMUSP00000120371
Ensembl peptide - ENSMUSP00000119268
Ensembl peptide - ENSMUSP00000119120
Ensembl peptide - ENSMUSP00000118921
Ensembl peptide - ENSMUSP00000047697
Ensembl peptide - ENSMUSP00000082383
Ensembl peptide - ENSMUSP00000114364
Ensembl peptide - ENSMUSP00000115053
Ensembl peptide - ENSMUSP00000116718
NCBI entrez gene - 319565     See in Manteia.
MGI - MGI:2449316
RefSeq - NM_001005510
RefSeq Peptide - NP_001005510
swissprot - D3Z2P5
swissprot - D3Z2J8
swissprot - D3YVK9
swissprot - F6VTU3
swissprot - F6W8R9
swissprot - F7BX34
swissprot - Q6DFZ2
swissprot - Q6ZWN0
swissprot - E9QP46
swissprot - Q6ZWQ0
swissprot - D6RH38
swissprot - D3Z412
Ensembl - ENSMUSG00000063450
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 si:ch211-207i1.2ENSDARG00000030107Danio rerio
 syne2bENSDARG00000053484Danio rerio
 SYNE2ENSGALG00000011811Gallus gallus
 SYNE2ENSG00000054654Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Flna / Q8BTM8 / Filamin-A / P21333*ENSMUSG000000313286
Flnb / Q80X90 / Filamin-B / O75369*ENSMUSG000000252786
Flnc / Q8VHX6 / Filamin-C / Q14315*ENSMUSG000000686996
Syne1 / Q6ZWR6 / Mus musculus spectrin repeat containing, nuclear envelope 1 (Syne1), transcript variant 5, mRNA. / Q8NF91* / spectrin repeat containing nuclear envelope protein 1*ENSMUSG000000960545
Clmn / Q8C5W0 / Calmin / Q96JQ2*ENSMUSG000000210974


Protein motifs (from Interpro)
Interpro ID Name
 IPR001589  Actinin-type actin-binding domain, conserved site
 IPR001715  Calponin homology domain
 IPR002017  Spectrin repeat
 IPR012315  KASH domain
 IPR018159  Spectrin/alpha-actinin
 IPR030266  Nesprin-2
 IPR036872  CH domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006998 nuclear envelope organization IMP
 biological_processGO:0007097 nuclear migration IEA
 biological_processGO:0007163 establishment or maintenance of cell polarity IMP
 biological_processGO:0010761 fibroblast migration IMP
 biological_processGO:0021817 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration IMP
 biological_processGO:0030335 positive regulation of cell migration IMP
 biological_processGO:0031022 nuclear migration along microfilament IMP
 biological_processGO:0034504 protein localization to nucleus IMP
 biological_processGO:0051642 centrosome localization IEA
 biological_processGO:0090286 cytoskeletal anchoring at nuclear membrane ISO
 biological_processGO:1902017 regulation of cilium assembly IMP
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005635 nuclear envelope TAS
 cellular_componentGO:0005640 nuclear outer membrane IEA
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion ISO
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005925 focal adhesion IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016235 aggresome IEA
 cellular_componentGO:0016529 sarcoplasmic reticulum ISO
 cellular_componentGO:0030016 myofibril IDA
 cellular_componentGO:0030018 Z disc IEA
 cellular_componentGO:0031258 lamellipodium membrane IEA
 cellular_componentGO:0031527 filopodium membrane IEA
 cellular_componentGO:0031965 nuclear membrane IEA
 cellular_componentGO:0031981 nuclear lumen IEA
 cellular_componentGO:0033017 sarcoplasmic reticulum membrane IEA
 cellular_componentGO:0034993 meiotic nuclear membrane microtubule tethering complex ISO
 cellular_componentGO:0045111 intermediate filament cytoskeleton IEA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0051015 actin filament binding IEA


Pathways (from Reactome)
Pathway description
No match


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: Fmr1tm1Cgr/Y,Tg(ACTB-Eif4e)#Ppp/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000280 thin ventricular wall "decreased depth of the cardiac wall of the heart ventricles" [J:45302]
Show

Allelic Composition: Fmr1tm1Cgr/Y,Tg(ACTB-Eif4e)#Ppp/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001053 abnormal neuromuscular synapse "malformed or absent membrane to membrane contact of a motor axon and a muscle myofiber resulting in aberrant transmission of nerve impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159, J:47439]
Show

Allelic Composition: Terttm1Yjc/Terttm1Yjc
Genetic Background: involves: 129/Sv * C57BL/6 * SJL * SPRET/Ei

Allelic Composition: Syne1tm1Rexu/Syne1tm1Rexu,Syne2tm1Rexu/Syne2+
Genetic Background: involves: 129 * C57BL/6

 MP:0001078 abnormal phrenic nerve "malformed or misprojection of motor and sensory neuron axons to the diaphragm and other tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
Show

Allelic Composition: Syne1tm1Rexu/Syne1tm1Rexu,Syne2tm1Rexu/Syne2tm1Rexu
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Syne1tm1Rexu/Syne1tm1Rexu,Syne2tm1Rexu/Syne2+
Genetic Background: involves: 129 * C57BL/6

 MP:0001219 thickened epidermis "increase in the width of the epidermal cell layer in the skin" [J:65146]
Show

Allelic Composition: Ldlrtm1Her/Ldlrtm1Her,Serpine1tm1Mlg/Serpine1tm1Mlg
Genetic Background: B6.129S-Serpine1tm1Mlg Ldlrtm1Her

 MP:0001544 abnormal cardiovascular system physiology "anomalous function of the blood, blood vessels, and/or the heart" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Fmr1tm1Cgr/Y,Tg(ACTB-Eif4e)#Ppp/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001953 respiratory failure "cessation of or failure to commence breathing" [MGI:cls, J:60159]
Show

Allelic Composition: Terttm1Yjc/Terttm1Yjc
Genetic Background: involves: 129/Sv * C57BL/6 * SJL * SPRET/Ei

 MP:0002314 abnormal respiratory mechanics "anomaly in the action of the lungs, diaphragm, ribs and chest wall during respiration" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Terttm1Yjc/Terttm1Yjc
Genetic Background: involves: 129/Sv * C57BL/6 * SJL * SPRET/Ei

 MP:0002655 abnormal keratinocyte morphology "structural or developmental anomaly of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ldlrtm1Her/Ldlrtm1Her,Serpine1tm1Mlg/Serpine1tm1Mlg
Genetic Background: B6.129S-Serpine1tm1Mlg Ldlrtm1Her

 MP:0003111 abnormal nucleus morphology "abnormalities in the nucleus and/or its surrounding membrane" [J:91473, smb:Susan M. Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ldlrtm1Her/Ldlrtm1Her,Serpine1tm1Mlg/Serpine1tm1Mlg
Genetic Background: B6.129S-Serpine1tm1Mlg Ldlrtm1Her

Allelic Composition: Syne1tm1Chen/Syne1tm1Chen,Syne2tm1.1Chen/Syne2tm1.1Chen,Tg(Nkx2-5-cre)9Eno/?
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * Black Swiss

Allelic Composition: Syne1tm1Chen/Syne1tm1Chen,Syne2tm1.1Chen/Syne2tm1.1Chen
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * Black Swiss

Allelic Composition: Syne2cpfl8/Syne2cpfl8
Genetic Background: B6.Cg-Syne2cpfl8

 MP:0003141 cardiac fibrosis "formation of fibrous tissue within the heart often resulting from inflammation or injury " [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Syne1tm1Chen/Syne1tm1Chen,Syne2tm1.1Chen/Syne2tm1.1Chen,Tg(Nkx2-5-cre)9Eno/?
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * Black Swiss

 MP:0003222 increased cardiomyocyte apoptosis "increase in the number of cardiac muscle cells undergoing programmed cell death" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Syne1tm1Chen/Syne1tm1Chen,Syne2tm1.1Chen/Syne2tm1.1Chen,Tg(Nkx2-5-cre)9Eno/?
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * Black Swiss

 MP:0003732 abnormal outer plexiform layer morphology "malformation/anomalous structure of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites)" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Syne2cpfl8/Syne2cpfl8
Genetic Background: B6.Cg-Syne2cpfl8

 MP:0004021 abnormal rod electrophysiology "anomaly in the function of dark adapted vision mediated by the rods" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Syne2cpfl8/Syne2cpfl8
Genetic Background: B6.Cg-Syne2cpfl8

 MP:0004022 abnormal cone electrophysiology "anomaly in the function of light adapted vision mediated by the cones" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Syne2cpfl8/Syne2cpfl8
Genetic Background: B6.Cg-Syne2cpfl8

 MP:0004857 abnormal heart weight "anomaly in the average weight of the heart compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Syne1tm1Chen/Syne1tm1Chen,Syne2tm1.1Chen/Syne2tm1.1Chen,Tg(Nkx2-5-cre)9Eno/?
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * Black Swiss

 MP:0005140 decreased cardiac muscle contractility "inability or reduced ability of the heart muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Fmr1tm1Cgr/Y,Tg(ACTB-Eif4e)#Ppp/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0005547 abnormal Muller cell morphology "anomalous structure of the elongated neuroglial cells that traverse all the layers of the retina and that act as supporting elements" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Apoetm1Unc/Apoetm1Unc,Sprr3tm1.1Ppy/Sprr3tm1.1Ppy
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6J * SJL

 MP:0006068 abnormal horizontal cell morphology "anomalous structure of the laterally interconnecting neurons in the outer plexiform layer" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Syne2cpfl8/Syne2cpfl8
Genetic Background: B6.Cg-Syne2cpfl8

 MP:0006073 abnormal retinal bipolar cell morphology "anomalous structure of the cells that transmit signals from the photoreceptors to retinal amacrine and ganglion cells" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:92623:]
Show

Allelic Composition: Syne2cpfl8/Syne2cpfl8
Genetic Background: B6.Cg-Syne2cpfl8

 MP:0008446 decreased retinal cone cell number "reduced number of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment" [MESH:A08.663.650.650.670.100, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Syne2cpfl8/Syne2cpfl8
Genetic Background: B6.Cg-Syne2cpfl8

 MP:0008511 thin retinal inner nuclear layer "reduced thickness of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Syne2cpfl8/Syne2cpfl8
Genetic Background: B6.Cg-Syne2cpfl8

 MP:0008515 thin retinal outer nuclear layer "reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Syne2cpfl8/Syne2cpfl8
Genetic Background: B6.Cg-Syne2cpfl8

 MP:0008519 thin retinal outer plexiform layer "reduced thickness of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites)" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Syne2cpfl8/Syne2cpfl8
Genetic Background: B6.Cg-Syne2cpfl8

 MP:0008582 short photoreceptor inner segment "decreased length of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Syne2cpfl8/Syne2cpfl8
Genetic Background: B6.Cg-Syne2cpfl8

 MP:0008587 short photoreceptor outer segment "decreased length of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Syne2cpfl8/Syne2cpfl8
Genetic Background: B6.Cg-Syne2cpfl8

 MP:0009538 abnormal synapse morphology "any strucutral anomaly of the membrane junction site of a nerve cell to a target cell, such as another nerve cell, an effector cell, or a sensory receptor cell; transmission of nerve impulses may be mediated by chemical or by electrical means" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A08.850]
Show

Allelic Composition: Syne2cpfl8/Syne2cpfl8
Genetic Background: B6.Cg-Syne2cpfl8

 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: Syne1tm1Rexu/Syne1tm1Rexu,Syne2tm1Rexu/Syne2tm1Rexu
Genetic Background: involves: 129 * C57BL/6

 MP:0011708 decreased fibroblast cell migration "reduced frequency of or less rapid cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium" [MGI:csmith]
Show

Allelic Composition: Ldlrtm1Her/Ldlrtm1Her,Serpine1tm1Mlg/Serpine1tm1Mlg
Genetic Background: B6.129S-Serpine1tm1Mlg Ldlrtm1Her

 MP:0030005 increased retinal apoptosis "increase in the number of cells in the retina undergoing programmed cell death" [MGI:anna]
Show

Allelic Composition: Syne2cpfl8/Syne2cpfl8
Genetic Background: B6.Cg-Syne2cpfl8

  


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






 

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