Atlas of Genetics and Cytogenetics in Oncology and Haematology


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EMD (emerin)

Identity

Other namesEDMD
LEMD5
STA
HGNC (Hugo) EMD
LocusID (NCBI) 2010
Location Xq28
Location_base_pair Starts at 153607597 and ends at 153609883 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)EMD   3331
Cards
Entrez_Gene (NCBI)EMD  2010  emerin
GeneCards (Weizmann)EMD
Ensembl hg19 (Hinxton)ENSG00000102119 [Gene_View]  chrX:153607597-153609883 [Contig_View]  EMD [Vega]
Ensembl hg38 (Hinxton)ENSG00000102119 [Gene_View]  chrX:153607597-153609883 [Contig_View]  EMD [Vega]
ICGC DataPortalENSG00000102119
cBioPortalEMD
AceView (NCBI)EMD
Genatlas (Paris)EMD
WikiGenes2010
SOURCE (Princeton)EMD
Genomic and cartography
GoldenPath hg19 (UCSC)EMD  -     chrX:153607597-153609883 +  Xq28   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EMD  -     Xq28   [Description]    (hg38-Dec_2013)
EnsemblEMD - Xq28 [CytoView hg19]  EMD - Xq28 [CytoView hg38]
Mapping of homologs : NCBIEMD [Mapview hg19]  EMD [Mapview hg38]
OMIM300384   310300   
Gene and transcription
Genbank (Entrez)AM393723 BC000738 BT007401 CR536536 CX781694
RefSeq transcript (Entrez)NM_000117
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_008677 NT_011681 NW_001842419 NW_004929448
Consensus coding sequences : CCDS (NCBI)EMD
Cluster EST : UnigeneHs.522823 [ NCBI ]
CGAP (NCI)Hs.522823
Alternative Splicing : Fast-db (Paris)GSHG0031919
Alternative Splicing GalleryENSG00000102119
Gene ExpressionEMD [ NCBI-GEO ]     EMD [ SEEK ]   EMD [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP50402 (Uniprot)
NextProtP50402  [Medical]
With graphics : InterProP50402
Splice isoforms : SwissVarP50402 (Swissvar)
Domaine pattern : Prosite (Expaxy)LEM (PS50954)   
Domains : Interpro (EBI)LEM/LEM-like_dom    LEM_dom   
Related proteins : CluSTrP50402
Domain families : Pfam (Sanger)LEM (PF03020)   
Domain families : Pfam (NCBI)pfam03020   
Domain families : Smart (EMBL)LEM (SM00540)  
DMDM Disease mutations2010
Blocks (Seattle)P50402
PDB (SRS)1JEI    2ODC    2ODG   
PDB (PDBSum)1JEI    2ODC    2ODG   
PDB (IMB)1JEI    2ODC    2ODG   
PDB (RSDB)1JEI    2ODC    2ODG   
Human Protein AtlasENSG00000102119
Peptide AtlasP50402
HPRD02309
IPIIPI00032003   IPI00552214   IPI00879203   
Protein Interaction databases
DIP (DOE-UCLA)P50402
IntAct (EBI)P50402
FunCoupENSG00000102119
BioGRIDEMD
IntegromeDBEMD
STRING (EMBL)EMD
Ontologies - Pathways
QuickGOP50402
Ontology : AmiGOmitotic cell cycle  actin binding  protein binding  nuclear envelope  nuclear envelope  nuclear inner membrane  nuclear outer membrane  endoplasmic reticulum  microtubule  muscle contraction  mitotic nuclear envelope disassembly  mitotic nuclear envelope reassembly  muscle organ development  membrane  integral component of membrane  nuclear membrane  negative regulation of catenin import into nucleus  skeletal muscle cell differentiation  positive regulation of protein export from nucleus  negative regulation of fibroblast proliferation  beta-tubulin binding  regulation of canonical Wnt signaling pathway  cellular response to growth factor stimulus  
Ontology : EGO-EBImitotic cell cycle  actin binding  protein binding  nuclear envelope  nuclear envelope  nuclear inner membrane  nuclear outer membrane  endoplasmic reticulum  microtubule  muscle contraction  mitotic nuclear envelope disassembly  mitotic nuclear envelope reassembly  muscle organ development  membrane  integral component of membrane  nuclear membrane  negative regulation of catenin import into nucleus  skeletal muscle cell differentiation  positive regulation of protein export from nucleus  negative regulation of fibroblast proliferation  beta-tubulin binding  regulation of canonical Wnt signaling pathway  cellular response to growth factor stimulus  
Pathways : KEGGHypertrophic cardiomyopathy (HCM)    Arrhythmogenic right ventricular cardiomyopathy (ARVC)    Dilated cardiomyopathy   
Protein Interaction DatabaseEMD
DoCM (Curated mutations)EMD
Wikipedia pathwaysEMD
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerEMD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EMD
dbVarEMD
ClinVarEMD
1000_GenomesEMD 
Exome Variant ServerEMD
SNP (GeneSNP Utah)EMD
SNP : HGBaseEMD
Genetic variants : HAPMAPEMD
Genomic VariantsEMD  EMD [DGVbeta]
Mutations
ICGC Data PortalENSG00000102119 
Somatic Mutations in Cancer : COSMICEMD 
CONAN: Copy Number AnalysisEMD 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:153607597-153609883
Mutations and Diseases : HGMDEMD
OMIM300384    310300   
MedgenEMD
NextProtP50402 [Medical]
GENETestsEMD
Disease Genetic AssociationEMD
Huge Navigator EMD [HugePedia]  EMD [HugeCancerGEM]
snp3D : Map Gene to Disease2010
DGIdb (Drug Gene Interaction db)EMD
General knowledge
Homologs : HomoloGeneEMD
Homology/Alignments : Family Browser (UCSC)EMD
Phylogenetic Trees/Animal Genes : TreeFamEMD
Chemical/Protein Interactions : CTD2010
Chemical/Pharm GKB GenePA27766
Clinical trialEMD
Cancer Resource (Charite)ENSG00000102119
Other databases
Probes
Litterature
PubMed121 Pubmed reference(s) in Entrez
CoreMineEMD
GoPubMedEMD
iHOPEMD
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 21:21:59 CET 2014

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