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SGCA (sarcoglycan alpha)

Identity

Other names50DAG
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)
Fusion genes
(updated 2016)
FHL1 (Xq26.3) / SGCA (17q21.33)SGCA (17q21.33) / PPP1R9B (17q21.33)

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
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 AK293614 AK300710 BC025702 DC306167
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 [ EBI - ARRAY_EXPRESS ]   SGCA [ SEEK ]   SGCA [ MEM ]
Gene Expression Viewer (FireBrowse)SGCA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)6442
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16586 (Uniprot)
NextProtQ16586  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16586
Splice isoforms : SwissVarQ16586 (Swissvar)
PhosPhoSitePlusQ16586
Domains : Interpro (EBI)Alpha-SG    Cadg    Cadherin-like    Ig-like_fold    Sarcoglycan_alpha/epsilon   
Domain families : Pfam (Sanger)Sarcoglycan_2 (PF05510)   
Domain families : Pfam (NCBI)pfam05510   
Domain families : Smart (EMBL)CADG (SM00736)  
DMDM Disease mutations6442
Blocks (Seattle)SGCA
SuperfamilyQ16586
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
STRING (EMBL)SGCA
ZODIACSGCA
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  membrane organization  
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  membrane organization  
Pathways : KEGGHypertrophic cardiomyopathy (HCM)    Arrhythmogenic right ventricular cardiomyopathy (ARVC)    Dilated cardiomyopathy    Viral myocarditis   
NDEx Network
Atlas of Cancer Signalling NetworkSGCA
Wikipedia pathwaysSGCA
Orthology - Evolution
OrthoDB6442
GeneTree (enSembl)ENSG00000108823
Phylogenetic Trees/Animal Genes : TreeFamSGCA
Homologs : HomoloGeneSGCA
Homology/Alignments : Family Browser (UCSC)SGCA
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerSGCA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SGCA
dbVarSGCA
ClinVarSGCA
1000_GenomesSGCA 
Exome Variant ServerSGCA
ExAC (Exome Aggregation Consortium)SGCA (select the gene name)
SNP (GeneSNP Utah)SGCA
SNP : HGBaseSGCA
Genetic variants : HAPMAPSGCA
Genomic Variants (DGV)SGCA [DGVbeta]
Mutations
ICGC Data PortalSGCA 
TCGA Data PortalSGCA 
Broad Tumor PortalSGCA
OASIS PortalSGCA [ Somatic mutations - Copy number]
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
BioMutasearch SGCA
DgiDB (Drug Gene Interaction Database)SGCA
DoCM (Curated mutations)SGCA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SGCA (select a term)
intoGenSGCA
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
Genetic Testing Registry SGCA
NextProtQ16586 [Medical]
TSGene6442
GENETestsSGCA
Huge Navigator SGCA [HugePedia]  SGCA [HugeCancerGEM]
snp3D : Map Gene to Disease6442
BioCentury BCIQSGCA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6442
Chemical/Pharm GKB GenePA35716
Clinical trialSGCA
Miscellaneous
canSAR (ICR)SGCA (select the gene name)
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (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

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indexed on : Sat Apr 16 18:03:56 CEST 2016

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