Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SGCA (sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein))

Identity

Other names50-DAG
A2
ADL
DAG2
DMDA2
LGMD2D
SCARMD1
adhalin
HGNC (Hugo) SGCA
LocusID (NCBI) 6442
Atlas_Id 51446
Location 17q21.33
Location_base_pair Starts at 48243366 and ends at 48253293 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)SGCA   10805
Cards
Entrez_Gene (NCBI)SGCA  6442  sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
GeneCards (Weizmann)SGCA
Ensembl hg19 (Hinxton)ENSG00000108823 [Gene_View]  chr17:48243366-48253293 [Contig_View]  SGCA [Vega]
Ensembl hg38 (Hinxton)ENSG00000108823 [Gene_View]  chr17:48243366-48253293 [Contig_View]  SGCA [Vega]
ICGC DataPortalENSG00000108823
TCGA cBioPortalSGCA
AceView (NCBI)SGCA
Genatlas (Paris)SGCA
WikiGenes6442
SOURCE (Princeton)SGCA
Genomic and cartography
GoldenPath hg19 (UCSC)SGCA  -     chr17:48243366-48253293 +  17q21.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SGCA  -     17q21.33   [Description]    (hg38-Dec_2013)
EnsemblSGCA - 17q21.33 [CytoView hg19]  SGCA - 17q21.33 [CytoView hg38]
Mapping of homologs : NCBISGCA [Mapview hg19]  SGCA [Mapview hg38]
OMIM600119   608099   
Gene and transcription
Genbank (Entrez)AK290622 AK300710 BC025702 DQ893777 F25770
RefSeq transcript (Entrez)NM_000023 NM_001135697
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_008889 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)SGCA
Cluster EST : UnigeneHs.463412 [ NCBI ]
CGAP (NCI)Hs.463412
Alternative Splicing : Fast-db (Paris)GSHG0012627
Alternative Splicing GalleryENSG00000108823
Gene ExpressionSGCA [ NCBI-GEO ]     SGCA [ SEEK ]   SGCA [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16586 (Uniprot)
NextProtQ16586  [Medical]
With graphics : InterProQ16586
Splice isoforms : SwissVarQ16586 (Swissvar)
Domains : Interpro (EBI)Alpha-SG    Cadg    Cadherin-like    Ig-like_fold    Sarcoglycan_2   
Related proteins : CluSTrQ16586
Domain families : Pfam (Sanger)Sarcoglycan_2 (PF05510)   
Domain families : Pfam (NCBI)pfam05510   
Domain families : Smart (EMBL)CADG (SM00736)  
DMDM Disease mutations6442
Blocks (Seattle)Q16586
Human Protein AtlasENSG00000108823
Peptide AtlasQ16586
HPRD02525
IPIIPI00301464   IPI00412663   IPI00922519   IPI01012017   IPI00921809   IPI00966587   IPI00966127   IPI00967645   IPI00964030   IPI00966651   
Protein Interaction databases
DIP (DOE-UCLA)Q16586
IntAct (EBI)Q16586
FunCoupENSG00000108823
BioGRIDSGCA
IntegromeDBSGCA
STRING (EMBL)SGCA
Ontologies - Pathways
QuickGOQ16586
Ontology : AmiGOcalcium ion binding  protein binding  cytoplasm  cytoskeleton  cell-cell junction  muscle contraction  muscle organ development  dystrophin-associated glycoprotein complex  sarcoglycan complex  integral component of membrane  sarcolemma  membrane raft  
Ontology : EGO-EBIcalcium ion binding  protein binding  cytoplasm  cytoskeleton  cell-cell junction  muscle contraction  muscle organ development  dystrophin-associated glycoprotein complex  sarcoglycan complex  integral component of membrane  sarcolemma  membrane raft  
Pathways : KEGGHypertrophic cardiomyopathy (HCM)    Arrhythmogenic right ventricular cardiomyopathy (ARVC)    Dilated cardiomyopathy    Viral myocarditis   
Protein Interaction DatabaseSGCA
DoCM (Curated mutations)SGCA
Wikipedia pathwaysSGCA
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerSGCA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SGCA
dbVarSGCA
ClinVarSGCA
1000_GenomesSGCA 
Exome Variant ServerSGCA
SNP (GeneSNP Utah)SGCA
SNP : HGBaseSGCA
Genetic variants : HAPMAPSGCA
Genomic Variants (DGV)SGCA [DGVbeta]
Mutations
ICGC Data PortalSGCA 
TCGA Data PortalSGCA 
Tumor PortalSGCA
Somatic Mutations in Cancer : COSMICSGCA 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)17:48243366-48253293
CONAN: Copy Number AnalysisSGCA 
Mutations and Diseases : HGMDSGCA
OMIM600119    608099   
MedgenSGCA
NextProtQ16586 [Medical]
GENETestsSGCA
Disease Genetic AssociationSGCA
Huge Navigator SGCA [HugePedia]  SGCA [HugeCancerGEM]
snp3D : Map Gene to Disease6442
DGIdb (Drug Gene Interaction db)SGCA
General knowledge
Homologs : HomoloGeneSGCA
Homology/Alignments : Family Browser (UCSC)SGCA
Phylogenetic Trees/Animal Genes : TreeFamSGCA
Chemical/Protein Interactions : CTD6442
Chemical/Pharm GKB GenePA35716
Clinical trialSGCA
Cancer Resource (Charite)ENSG00000108823
Other databases
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
CoreMineSGCA
GoPubMedSGCA
iHOPSGCA
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
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Apr 13 15:13:26 CEST 2015

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