ENSG00000102119


Homo sapiens

Features
Gene ID: ENSG00000102119
  
Biological name :EMD
  
Synonyms : EMD / emerin / P50402
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: q28
Gene start: 154379197
Gene end: 154381523
  
Corresponding Affymetrix probe sets: 209477_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000358857
Ensembl peptide - ENSP00000358850
Ensembl peptide - ENSP00000401081
NCBI entrez gene - 2010     See in Manteia.
OMIM - 300384
RefSeq - NM_000117
RefSeq Peptide - NP_000108
swissprot - Q5HY57
swissprot - F8WEQ1
swissprot - P50402
Ensembl - ENSG00000102119
  
Related genetic diseases (OMIM): 310300 - Emery-Dreifuss muscular dystrophy 1, X-linked, 310300
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 EmdENSMUSG00000001964Mus musculus


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:0006936 muscle contraction TAS
 biological_processGO:0007077 mitotic nuclear envelope disassembly TAS
 biological_processGO:0007084 mitotic nuclear envelope reassembly TAS
 biological_processGO:0007517 muscle organ development TAS
 biological_processGO:0035914 skeletal muscle cell differentiation IEA
 biological_processGO:0046827 positive regulation of protein export from nucleus IMP
 biological_processGO:0048147 negative regulation of fibroblast proliferation IMP
 biological_processGO:0060828 regulation of canonical Wnt signaling pathway IMP
 biological_processGO:0071363 cellular response to growth factor stimulus IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005635 nuclear envelope IEA
 cellular_componentGO:0005637 nuclear inner membrane NAS
 cellular_componentGO:0005640 nuclear outer membrane IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0005874 microtubule IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031616 spindle pole centrosome IDA
 cellular_componentGO:0031965 nuclear membrane IDA
 cellular_componentGO:0032541 cortical endoplasmic reticulum IDA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0045296 cadherin binding IDA
 molecular_functionGO:0048487 beta-tubulin binding IDA


Pathways (from Reactome)
Pathway description
Clearance of Nuclear Envelope Membranes from Chromatin
Initiation of Nuclear Envelope Reformation
Depolymerisation of the Nuclear Lamina


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000464 Abnormality of the neck 
Show

 HP:0000767 Pectus excavatum "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators]
Show

 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
Show

 HP:0001645 Sudden cardiac death 
Show

 HP:0001678 Atrioventricular block 
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 HP:0001692 Atrial arrhythmias 
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 HP:0001771 Achilles tendon contractures 
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 HP:0002515 Waddling gait 
Show

 HP:0002987 Elbow contractures 
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 HP:0003236 Elevated serum creatine phosphokinase 
Show

 HP:0003621 Juvenile onset 
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 HP:0003677 Slow progression 
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 HP:0004631 Decreased cervical spine flexion due to contractures of posterior cervical muscles 
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 HP:0011463 Childhood onset "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth]
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 HP:0011807 Type 1 muscle fiber atrophy "Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy." [HPO:probinson]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100749 VRK1 / Q99986 / vaccinia related kinase 1  / reaction
 ENSG00000166501 PRKCB / P05771 / protein kinase C beta  / reaction
 ENSG00000175334 BANF1 / O75531 / barrier to autointegration factor 1  / complex / reaction
 ENSG00000154229 PRKCA / P17252 / protein kinase C alpha  / reaction
 ENSG00000160789 LMNA / P02545 / lamin A/C  / complex / reaction






 

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