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SH3BGRL (SH3 domain binding glutamate-rich protein like)

Identity

Alias_namesSH3 domain binding glutamic acid-rich protein like
Alias_symbol (synonym)MGC117402
Other aliasHEL-S-115
SH3BGR
HGNC (Hugo) SH3BGRL
LocusID (NCBI) 6451
Atlas_Id 73198
Location Xq21.1  [Link to chromosome band Xq21]
Location_base_pair Starts at 80457303 and ends at 80554046 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CD68 (17p13.1) / SH3BGRL (Xq21.1)GPT2 (16q11.2) / SH3BGRL (Xq21.1)SH3BGRL (Xq21.1) / JAK1 (1p31.3)

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)SH3BGRL   10823
Cards
Entrez_Gene (NCBI)SH3BGRL  6451  SH3 domain binding glutamate-rich protein like
AliasesHEL-S-115; SH3BGR
GeneCards (Weizmann)SH3BGRL
Ensembl hg19 (Hinxton)ENSG00000131171 [Gene_View]  chrX:80457303-80554046 [Contig_View]  SH3BGRL [Vega]
Ensembl hg38 (Hinxton)ENSG00000131171 [Gene_View]  chrX:80457303-80554046 [Contig_View]  SH3BGRL [Vega]
ICGC DataPortalENSG00000131171
TCGA cBioPortalSH3BGRL
AceView (NCBI)SH3BGRL
Genatlas (Paris)SH3BGRL
WikiGenes6451
SOURCE (Princeton)SH3BGRL
Genetics Home Reference (NIH)SH3BGRL
Genomic and cartography
GoldenPath hg19 (UCSC)SH3BGRL  -     chrX:80457303-80554046 +  Xq21.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SH3BGRL  -     Xq21.1   [Description]    (hg38-Dec_2013)
EnsemblSH3BGRL - Xq21.1 [CytoView hg19]  SH3BGRL - Xq21.1 [CytoView hg38]
Mapping of homologs : NCBISH3BGRL [Mapview hg19]  SH3BGRL [Mapview hg38]
OMIM300190   
Gene and transcription
Genbank (Entrez)AF042081 AK024892 AK129610 AK309350 AK309351
RefSeq transcript (Entrez)NM_003022
RefSeq genomic (Entrez)NC_000023 NC_018934 NT_011651 NW_004929444
Consensus coding sequences : CCDS (NCBI)SH3BGRL
Cluster EST : UnigeneHs.108029 [ NCBI ]
CGAP (NCI)Hs.108029
Alternative Splicing GalleryENSG00000131171
Gene ExpressionSH3BGRL [ NCBI-GEO ]   SH3BGRL [ EBI - ARRAY_EXPRESS ]   SH3BGRL [ SEEK ]   SH3BGRL [ MEM ]
Gene Expression Viewer (FireBrowse)SH3BGRL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6451
GTEX Portal (Tissue expression)SH3BGRL
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75368   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75368  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75368
Splice isoforms : SwissVarO75368
PhosPhoSitePlusO75368
Domains : Interpro (EBI)Glut_rich_SH3-bd    Thioredoxin-like_fold   
Domain families : Pfam (Sanger)SH3BGR (PF04908)   
Domain families : Pfam (NCBI)pfam04908   
Conserved Domain (NCBI)SH3BGRL
DMDM Disease mutations6451
Blocks (Seattle)SH3BGRL
PDB (SRS)1U6T    1WRY   
PDB (PDBSum)1U6T    1WRY   
PDB (IMB)1U6T    1WRY   
PDB (RSDB)1U6T    1WRY   
Structural Biology KnowledgeBase1U6T    1WRY   
SCOP (Structural Classification of Proteins)1U6T    1WRY   
CATH (Classification of proteins structures)1U6T    1WRY   
SuperfamilyO75368
Human Protein AtlasENSG00000131171
Peptide AtlasO75368
HPRD02178
IPIIPI00025318   
Protein Interaction databases
DIP (DOE-UCLA)O75368
IntAct (EBI)O75368
FunCoupENSG00000131171
BioGRIDSH3BGRL
STRING (EMBL)SH3BGRL
ZODIACSH3BGRL
Ontologies - Pathways
QuickGOO75368
Ontology : AmiGOSH3/SH2 adaptor activity  extracellular space  nucleus  cytoplasm  positive regulation of signal transduction  SH3 domain binding  extracellular exosome  
Ontology : EGO-EBISH3/SH2 adaptor activity  extracellular space  nucleus  cytoplasm  positive regulation of signal transduction  SH3 domain binding  extracellular exosome  
NDEx NetworkSH3BGRL
Atlas of Cancer Signalling NetworkSH3BGRL
Wikipedia pathwaysSH3BGRL
Orthology - Evolution
OrthoDB6451
GeneTree (enSembl)ENSG00000131171
Phylogenetic Trees/Animal Genes : TreeFamSH3BGRL
HOVERGENO75368
HOGENOMO75368
Homologs : HomoloGeneSH3BGRL
Homology/Alignments : Family Browser (UCSC)SH3BGRL
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSH3BGRL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SH3BGRL
dbVarSH3BGRL
ClinVarSH3BGRL
1000_GenomesSH3BGRL 
Exome Variant ServerSH3BGRL
ExAC (Exome Aggregation Consortium)SH3BGRL (select the gene name)
Genetic variants : HAPMAP6451
Genomic Variants (DGV)SH3BGRL [DGVbeta]
DECIPHER (Syndromes)X:80457303-80554046  ENSG00000131171
CONAN: Copy Number AnalysisSH3BGRL 
Mutations
ICGC Data PortalSH3BGRL 
TCGA Data PortalSH3BGRL 
Broad Tumor PortalSH3BGRL
OASIS PortalSH3BGRL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSH3BGRL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSH3BGRL
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SH3BGRL
DgiDB (Drug Gene Interaction Database)SH3BGRL
DoCM (Curated mutations)SH3BGRL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SH3BGRL (select a term)
intoGenSH3BGRL
Cancer3DSH3BGRL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300190   
Orphanet
MedgenSH3BGRL
Genetic Testing Registry SH3BGRL
NextProtO75368 [Medical]
TSGene6451
GENETestsSH3BGRL
Huge Navigator SH3BGRL [HugePedia]
snp3D : Map Gene to Disease6451
BioCentury BCIQSH3BGRL
ClinGenSH3BGRL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6451
Chemical/Pharm GKB GenePA35731
Clinical trialSH3BGRL
Miscellaneous
canSAR (ICR)SH3BGRL (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSH3BGRL
EVEXSH3BGRL
GoPubMedSH3BGRL
iHOPSH3BGRL
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 12:43:03 CET 2017

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