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SGCE (sarcoglycan, epsilon)

Identity

Other namesDYT11
ESG
HGNC (Hugo) SGCE
LocusID (NCBI) 8910
Location 7q21.3
Location_base_pair Starts at 94214536 and ends at 94285521 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

External links

Nomenclature
HGNC (Hugo)SGCE   10808
Cards
Entrez_Gene (NCBI)SGCE  8910  sarcoglycan, epsilon
GeneCards (Weizmann)SGCE
Ensembl (Hinxton)ENSG00000127990 [Gene_View]  chr7:94214536-94285521 [Contig_View]  SGCE [Vega]
ICGC DataPortalENSG00000127990
cBioPortalSGCE
AceView (NCBI)SGCE
Genatlas (Paris)SGCE
WikiGenes8910
SOURCE (Princeton)NM_001099400 NM_001099401 NM_001301139 NM_003919
Genomic and cartography
GoldenPath (UCSC)SGCE  -  7q21.3   chr7:94214536-94285521 -  7q21.3   [Description]    (hg19-Feb_2009)
EnsemblSGCE - 7q21.3 [CytoView]
Mapping of homologs : NCBISGCE [Mapview]
OMIM159900   604149   
Gene and transcription
Genbank (Entrez)AB117974 AF031920 AF036364 AF516515 AJ000534
RefSeq transcript (Entrez)NM_001099400 NM_001099401 NM_001301139 NM_003919
RefSeq genomic (Entrez)AC_000139 NC_000007 NC_018918 NG_008893 NT_007933 NW_001839064 NW_004929332
Consensus coding sequences : CCDS (NCBI)SGCE
Cluster EST : UnigeneHs.371199 [ NCBI ]
CGAP (NCI)Hs.371199
Alternative Splicing : Fast-db (Paris)GSHG0028361
Alternative Splicing GalleryENSG00000127990
Gene ExpressionSGCE [ NCBI-GEO ]     SGCE [ SEEK ]   SGCE [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43556 (Uniprot)
NextProtO43556  [Medical]
With graphics : InterProO43556
Splice isoforms : SwissVarO43556 (Swissvar)
Domains : Interpro (EBI)Cadg [organisation]   Sarcoglycan_2 [organisation]  
Related proteins : CluSTrO43556
Domain families : Pfam (Sanger)Sarcoglycan_2 (PF05510)   
Domain families : Pfam (NCBI)pfam05510   
Domain families : Smart (EMBL)CADG (SM00736)  
DMDM Disease mutations8910
Blocks (Seattle)O43556
Human Protein AtlasENSG00000127990 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasO43556
HPRD04999
IPIIPI00418183   IPI00910519   IPI00414984   IPI00853589   IPI00924566   IPI00927007   IPI00973162   IPI00980877   
Protein Interaction databases
DIP (DOE-UCLA)O43556
IntAct (EBI)O43556
FunCoupENSG00000127990
BioGRIDSGCE
InParanoidO43556
Interologous Interaction database O43556
IntegromeDBSGCE
STRING (EMBL)SGCE
Ontologies - Pathways
Ontology : AmiGOcalcium ion binding  Golgi apparatus  cytoskeleton  plasma membrane  integral component of plasma membrane  cell-matrix adhesion  muscle organ development  dystrophin-associated glycoprotein complex  sarcoglycan complex  dendrite  dendrite membrane  sarcolemma  
Ontology : EGO-EBIcalcium ion binding  Golgi apparatus  cytoskeleton  plasma membrane  integral component of plasma membrane  cell-matrix adhesion  muscle organ development  dystrophin-associated glycoprotein complex  sarcoglycan complex  dendrite  dendrite membrane  sarcolemma  
Protein Interaction DatabaseSGCE
Wikipedia pathwaysSGCE
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SGCE
snp3D : Map Gene to Disease8910
SNP (GeneSNP Utah)SGCE
SNP : HGBaseSGCE
Genetic variants : HAPMAPSGCE
Exome VariantSGCE
1000_GenomesSGCE 
ICGC programENSG00000127990 
Somatic Mutations in Cancer : COSMICSGCE 
CONAN: Copy Number AnalysisSGCE 
Mutations and Diseases : HGMDSGCE
Mutations and Diseases : intOGenSGCE
Genomic VariantsSGCE  SGCE [DGVbeta]
dbVarSGCE
ClinVarSGCE
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM159900    604149   
MedgenSGCE
GENETestsSGCE
Disease Genetic AssociationSGCE
Huge Navigator SGCE [HugePedia]  SGCE [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneSGCE
Homology/Alignments : Family Browser (UCSC)SGCE
Phylogenetic Trees/Animal Genes : TreeFamSGCE
Chemical/Protein Interactions : CTD8910
Chemical/Pharm GKB GenePA35719
Clinical trialSGCE
Cancer Resource (Charite)ENSG00000127990
Other databases
Probes
Litterature
PubMed73 Pubmed reference(s) in Entrez
CoreMineSGCE
iHOPSGCE
OncoSearchSGCE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 17:04:31 CEST 2014

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