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SGCA (sarcoglycan alpha)

Identity

Alias_namesADL
sarcoglycan
Alias_symbol (synonym)SCARMD1
LGMD2D
adhalin
DMDA2
A2
Other alias50DAG
DAG2
HGNC (Hugo) SGCA
LocusID (NCBI) 6442
Atlas_Id 51446
Location 17q21.33  [Link to chromosome band 17q21]
Location_base_pair Starts at 50165985 and ends at 50175932 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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
LRG (Locus Reference Genomic)LRG_203
Cards
Entrez_Gene (NCBI)SGCA  6442  sarcoglycan alpha
Aliases50DAG; ADL; DAG2; DMDA2; 
LGMD2D; SCARMD1; adhalin
GeneCards (Weizmann)SGCA
Ensembl hg19 (Hinxton)ENSG00000108823 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108823 [Gene_View]  chr17:50165985-50175932 [Contig_View]  SGCA [Vega]
ICGC DataPortalENSG00000108823
TCGA cBioPortalSGCA
AceView (NCBI)SGCA
Genatlas (Paris)SGCA
WikiGenes6442
SOURCE (Princeton)SGCA
Genetics Home Reference (NIH)SGCA
Genomic and cartography
GoldenPath hg38 (UCSC)SGCA  -     chr17:50165985-50175932 +  17q21.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SGCA  -     17q21.33   [Description]    (hg19-Feb_2009)
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)
Consensus coding sequences : CCDS (NCBI)SGCA
Cluster EST : UnigeneHs.463412 [ NCBI ]
CGAP (NCI)Hs.463412
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]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6442
GTEX Portal (Tissue expression)SGCA
Human Protein AtlasENSG00000108823-SGCA [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16586   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16586  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16586
Splice isoforms : SwissVarQ16586
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)  
Conserved Domain (NCBI)SGCA
DMDM Disease mutations6442
Blocks (Seattle)SGCA
SuperfamilyQ16586
Human Protein Atlas [tissue]ENSG00000108823-SGCA [tissue]
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  response to denervation involved in regulation of muscle adaptation  dystrophin-associated glycoprotein complex  sarcoglycan complex  integral component of membrane  sarcolemma  skeletal muscle tissue regeneration  membrane raft  membrane organization  
Ontology : EGO-EBIcalcium ion binding  protein binding  cytoplasm  cytoskeleton  cell-cell junction  muscle contraction  muscle organ development  response to denervation involved in regulation of muscle adaptation  dystrophin-associated glycoprotein complex  sarcoglycan complex  integral component of membrane  sarcolemma  skeletal muscle tissue regeneration  membrane raft  membrane organization  
Pathways : KEGGHypertrophic cardiomyopathy (HCM)    Arrhythmogenic right ventricular cardiomyopathy (ARVC)    Dilated cardiomyopathy    Viral myocarditis   
NDEx NetworkSGCA
Atlas of Cancer Signalling NetworkSGCA
Wikipedia pathwaysSGCA
Orthology - Evolution
OrthoDB6442
GeneTree (enSembl)ENSG00000108823
Phylogenetic Trees/Animal Genes : TreeFamSGCA
HOVERGENQ16586
HOGENOMQ16586
Homologs : HomoloGeneSGCA
Homology/Alignments : Family Browser (UCSC)SGCA
Gene fusions - Rearrangements
Fusion : MitelmanSGCA/PPP1R9B [17q21.33/17q21.33]  
Fusion: Tumor Portal SGCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSGCA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SGCA
dbVarSGCA
ClinVarSGCA
1000_GenomesSGCA 
Exome Variant ServerSGCA
ExAC (Exome Aggregation Consortium)ENSG00000108823
GNOMAD BrowserENSG00000108823
Genetic variants : HAPMAP6442
Genomic Variants (DGV)SGCA [DGVbeta]
DECIPHERSGCA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSGCA 
Mutations
ICGC Data PortalSGCA 
TCGA Data PortalSGCA 
Broad Tumor PortalSGCA
OASIS PortalSGCA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSGCA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSGCA
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
Cancer3DSGCA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600119    608099   
Orphanet678   
MedgenSGCA
Genetic Testing Registry SGCA
NextProtQ16586 [Medical]
TSGene6442
GENETestsSGCA
Target ValidationSGCA
Huge Navigator SGCA [HugePedia]
snp3D : Map Gene to Disease6442
BioCentury BCIQSGCA
ClinGenSGCA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6442
Chemical/Pharm GKB GenePA35716
Clinical trialSGCA
Miscellaneous
canSAR (ICR)SGCA (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSGCA
EVEXSGCA
GoPubMedSGCA
iHOPSGCA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 13:10:36 CET 2017

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