ENSMUSG00000001964


Mus musculus

Features
Gene ID: ENSMUSG00000001964
  
Biological name :Emd
  
Synonyms : Emd / Emerin / O08579
  
Possible biological names infered from orthology : P50402
  
Species: Mus musculus
  
Chr. number: X
Strand: 1
Band: A7.3
Gene start: 74254687
Gene end: 74261548
  
Corresponding Affymetrix probe sets: 10600341 (MoGene1.0st)   1417357_at (Mouse Genome 430 2.0 Array)   1423798_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000094133
Ensembl peptide - ENSMUSP00000115890
Ensembl peptide - ENSMUSP00000112639
Ensembl peptide - ENSMUSP00000094158
Ensembl peptide - ENSMUSP00000002029
NCBI entrez gene - 13726     See in Manteia.
MGI - MGI:108117
RefSeq - XM_011247521
RefSeq - NM_007927
RefSeq Peptide - NP_031953
swissprot - B7FAU5
swissprot - D6RFS0
swissprot - I7HJS1
swissprot - O08579
swissprot - Q3THM8
swissprot - A2AM95
Ensembl - ENSMUSG00000001964
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 EMDENSG00000102119Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR003887  LEM domain
 IPR011015  LEM/LEM-like domain superfamily
 IPR034989  Emerin, LEM domain
 IPR035004  Emerin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0035914 skeletal muscle cell differentiation IMP
 biological_processGO:0046827 positive regulation of protein export from nucleus ISO
 biological_processGO:0048147 negative regulation of fibroblast proliferation ISO
 biological_processGO:0060828 regulation of canonical Wnt signaling pathway ISO
 biological_processGO:0071363 cellular response to growth factor stimulus ISO
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005635 nuclear envelope IEA
 cellular_componentGO:0005637 nuclear inner membrane TAS
 cellular_componentGO:0005640 nuclear outer membrane ISO
 cellular_componentGO:0005652 nuclear lamina TAS
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005874 microtubule IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031616 spindle pole centrosome IEA
 cellular_componentGO:0031965 nuclear membrane IEA
 cellular_componentGO:0032541 cortical endoplasmic reticulum IEA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0045296 cadherin binding ISO
 molecular_functionGO:0048487 beta-tubulin binding ISO


Pathways (from Reactome)
Pathway description
Depolymerisation of the Nuclear Lamina


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000278 abnormal myocardial fiber morphology "malformed or poorly developed cardiac muscle fibers, the multinucleated muscle cells of the heart" [J:18048]
Show

Allelic Composition: Fancgtm1Ada/Fancgtm1Ada
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Emdtm1Ykh/Y
Genetic Background: B6.129X1-Emdtm1Ykh

Allelic Composition: Emdtm1.1Stw/Y
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Fancgtm1Ada/Fancgtm1Ada
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Emdtm1Ykh/Emd+
Genetic Background: B6.129X1-Emdtm1Ykh

Allelic Composition: Emdtm1Ykh/Y
Genetic Background: B6.129X1-Emdtm1Ykh

 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: Destm1Cba/Destm1Cba
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0002833 increased heart weight "greater than average weight of the heart compared to the average for a particular strain" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Emdtm1.1Stw/Y
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0003082 abnormal gastrocnemius morphology "anomaly in the the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Fancgtm1Ada/Fancgtm1Ada
Genetic Background: involves: 129S4/SvJae * 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: Fancgtm1Ada/Fancgtm1Ada
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Emdtm1Ykh/Y
Genetic Background: B6.129X1-Emdtm1Ykh

 MP:0003896 prolonged PQ interval "increase in the length of time between the beginning of atrial depolarisation and the beginning of ventricular depolarisation" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Fancgtm1Ada/Fancgtm1Ada
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Emdtm1Ykh/Y
Genetic Background: B6.129X1-Emdtm1Ykh

 MP:0004485 increased response of heart to induced stress "increase in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Emdtm1.1Stw/Y
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0004565 small myocardial fiber "decreased size of the cardiac muscle fibers, the multinucleated muscle cells of the heart" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Emdtm1.1Stw/Y
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0005598 decreased ventricle muscle contractility "reduced ability of the heart ventricle muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
Show

Allelic Composition: Emdtm1.1Stw/Y
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0006321 increased myocardial fiber number "increased number of cardiac muscle fibers, the multinucleated muscle cells of the heart" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Emdtm1.1Stw/Y
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0011925 abnormal heart echocardiography feature "any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features" [MPD:Molly]
Show

Allelic Composition: Emdtm1.1Stw/Y
Genetic Background: involves: 129S1/Sv * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000028063 Lmna / P48678 / Prelamin-A/C Lamin-A/C / P02545* / lamin A/C*  / complex
 ENSMUSG00000050965 Prkca / protein kinase C, alpha / P17252*  / reaction
 ENSMUSG00000052889 Prkcb / P68404 / protein kinase C, beta / P05771*  / reaction






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr