Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SGCB (sarcoglycan, beta (43kDa dystrophin-associated glycoprotein))

Identity

Alias_namesLGMD2E
sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
Alias_symbol (synonym)SGC
A3b
Other alias
HGNC (Hugo) SGCB
LocusID (NCBI) 6443
Atlas_Id 73178
Location 4q12  [Link to chromosome band 4q12]
Location_base_pair Starts at 52886861 and ends at 52904485 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SGCB (4q12) / SPATA18 (4q12)SGCB (4q12) / THBS1 (15q14)

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)SGCB   10806
LRG (Locus Reference Genomic)LRG_204
Cards
Entrez_Gene (NCBI)SGCB  6443  sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
AliasesA3b; LGMD2E; SGC
GeneCards (Weizmann)SGCB
Ensembl hg19 (Hinxton)ENSG00000163069 [Gene_View]  chr4:52886861-52904485 [Contig_View]  SGCB [Vega]
Ensembl hg38 (Hinxton)ENSG00000163069 [Gene_View]  chr4:52886861-52904485 [Contig_View]  SGCB [Vega]
ICGC DataPortalENSG00000163069
TCGA cBioPortalSGCB
AceView (NCBI)SGCB
Genatlas (Paris)SGCB
WikiGenes6443
SOURCE (Princeton)SGCB
Genetics Home Reference (NIH)SGCB
Genomic and cartography
GoldenPath hg19 (UCSC)SGCB  -     chr4:52886861-52904485 -  4q12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SGCB  -     4q12   [Description]    (hg38-Dec_2013)
EnsemblSGCB - 4q12 [CytoView hg19]  SGCB - 4q12 [CytoView hg38]
Mapping of homologs : NCBISGCB [Mapview hg19]  SGCB [Mapview hg38]
OMIM600900   604286   
Gene and transcription
Genbank (Entrez)AK094731 AK289892 AK299765 BC020709 BC048972
RefSeq transcript (Entrez)NM_000232
RefSeq genomic (Entrez)NC_000004 NC_018915 NG_008891 NT_022853 NW_004929319
Consensus coding sequences : CCDS (NCBI)SGCB
Cluster EST : UnigeneHs.438953 [ NCBI ]
CGAP (NCI)Hs.438953
Alternative Splicing GalleryENSG00000163069
Gene ExpressionSGCB [ NCBI-GEO ]   SGCB [ EBI - ARRAY_EXPRESS ]   SGCB [ SEEK ]   SGCB [ MEM ]
Gene Expression Viewer (FireBrowse)SGCB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6443
GTEX Portal (Tissue expression)SGCB
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16585   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16585  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16585
Splice isoforms : SwissVarQ16585
PhosPhoSitePlusQ16585
Domains : Interpro (EBI)Sarcoglycan    Sgcb   
Domain families : Pfam (Sanger)Sarcoglycan_1 (PF04790)   
Domain families : Pfam (NCBI)pfam04790   
Conserved Domain (NCBI)SGCB
DMDM Disease mutations6443
Blocks (Seattle)SGCB
SuperfamilyQ16585
Human Protein AtlasENSG00000163069
Peptide AtlasQ16585
HPRD02942
IPIIPI00002970   IPI01015886   IPI00964264   IPI00965677   
Protein Interaction databases
DIP (DOE-UCLA)Q16585
IntAct (EBI)Q16585
FunCoupENSG00000163069
BioGRIDSGCB
STRING (EMBL)SGCB
ZODIACSGCB
Ontologies - Pathways
QuickGOQ16585
Ontology : AmiGOcytoplasm  cytoskeleton  integral component of plasma membrane  muscle organ development  dystrophin-associated glycoprotein complex  sarcoglycan complex  sarcolemma  muscle fiber development  cardiac muscle cell development  vascular smooth muscle cell development  
Ontology : EGO-EBIcytoplasm  cytoskeleton  integral component of plasma membrane  muscle organ development  dystrophin-associated glycoprotein complex  sarcoglycan complex  sarcolemma  muscle fiber development  cardiac muscle cell development  vascular smooth muscle cell development  
Pathways : KEGGHypertrophic cardiomyopathy (HCM)    Arrhythmogenic right ventricular cardiomyopathy (ARVC)    Dilated cardiomyopathy    Viral myocarditis   
NDEx NetworkSGCB
Atlas of Cancer Signalling NetworkSGCB
Wikipedia pathwaysSGCB
Orthology - Evolution
OrthoDB6443
GeneTree (enSembl)ENSG00000163069
Phylogenetic Trees/Animal Genes : TreeFamSGCB
HOVERGENQ16585
HOGENOMQ16585
Homologs : HomoloGeneSGCB
Homology/Alignments : Family Browser (UCSC)SGCB
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSGCB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SGCB
dbVarSGCB
ClinVarSGCB
1000_GenomesSGCB 
Exome Variant ServerSGCB
ExAC (Exome Aggregation Consortium)SGCB (select the gene name)
Genetic variants : HAPMAP6443
Genomic Variants (DGV)SGCB [DGVbeta]
DECIPHER (Syndromes)4:52886861-52904485  ENSG00000163069
CONAN: Copy Number AnalysisSGCB 
Mutations
ICGC Data PortalSGCB 
TCGA Data PortalSGCB 
Broad Tumor PortalSGCB
OASIS PortalSGCB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSGCB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSGCB
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 SGCB
DgiDB (Drug Gene Interaction Database)SGCB
DoCM (Curated mutations)SGCB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SGCB (select a term)
intoGenSGCB
Cancer3DSGCB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600900    604286   
Orphanet8715   
MedgenSGCB
Genetic Testing Registry SGCB
NextProtQ16585 [Medical]
TSGene6443
GENETestsSGCB
Huge Navigator SGCB [HugePedia]
snp3D : Map Gene to Disease6443
BioCentury BCIQSGCB
ClinGenSGCB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6443
Chemical/Pharm GKB GenePA35717
Clinical trialSGCB
Miscellaneous
canSAR (ICR)SGCB (select the gene name)
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSGCB
EVEXSGCB
GoPubMedSGCB
iHOPSGCB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:42:59 CET 2017

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