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SH2D3C (SH2 domain containing 3C)

Identity

Alias_namesSH2 domain-containing 3C
Alias_symbol (synonym)NSP3
Other aliasCHAT
PRO34088
SHEP1
HGNC (Hugo) SH2D3C
LocusID (NCBI) 10044
Atlas_Id 43491
Location 9q34.11  [Link to chromosome band 9q34]
Location_base_pair Starts at 130500596 and ends at 130524719 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SH2D3C (9q34.11) / SH2D3C (9q34.11)

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)SH2D3C   16884
Cards
Entrez_Gene (NCBI)SH2D3C  10044  SH2 domain containing 3C
AliasesCHAT; NSP3; PRO34088; SHEP1
GeneCards (Weizmann)SH2D3C
Ensembl hg19 (Hinxton)ENSG00000095370 [Gene_View]  chr9:130500596-130524719 [Contig_View]  SH2D3C [Vega]
Ensembl hg38 (Hinxton)ENSG00000095370 [Gene_View]  chr9:130500596-130524719 [Contig_View]  SH2D3C [Vega]
ICGC DataPortalENSG00000095370
TCGA cBioPortalSH2D3C
AceView (NCBI)SH2D3C
Genatlas (Paris)SH2D3C
WikiGenes10044
SOURCE (Princeton)SH2D3C
Genetics Home Reference (NIH)SH2D3C
Genomic and cartography
GoldenPath hg19 (UCSC)SH2D3C  -     chr9:130500596-130524719 -  9q34.11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SH2D3C  -     9q34.11   [Description]    (hg38-Dec_2013)
EnsemblSH2D3C - 9q34.11 [CytoView hg19]  SH2D3C - 9q34.11 [CytoView hg38]
Mapping of homologs : NCBISH2D3C [Mapview hg19]  SH2D3C [Mapview hg38]
OMIM604722   
Gene and transcription
Genbank (Entrez)AF124251 AI472242 AI799905 AJ420431 AK056068
RefSeq transcript (Entrez)NM_001142531 NM_001142532 NM_001142533 NM_001142534 NM_001252334 NM_005489 NM_170600
RefSeq genomic (Entrez)NC_000009 NC_018920 NG_030563 NT_008470 NW_004929366
Consensus coding sequences : CCDS (NCBI)SH2D3C
Cluster EST : UnigeneHs.306412 [ NCBI ]
CGAP (NCI)Hs.306412
Alternative Splicing GalleryENSG00000095370
Gene ExpressionSH2D3C [ NCBI-GEO ]   SH2D3C [ EBI - ARRAY_EXPRESS ]   SH2D3C [ SEEK ]   SH2D3C [ MEM ]
Gene Expression Viewer (FireBrowse)SH2D3C [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10044
GTEX Portal (Tissue expression)SH2D3C
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N5H7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N5H7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N5H7
Splice isoforms : SwissVarQ8N5H7
PhosPhoSitePlusQ8N5H7
Domaine pattern : Prosite (Expaxy)RASGEF_CAT (PS50009)    SH2 (PS50001)   
Domains : Interpro (EBI)Ras_GEF_dom    RASGEF_cat_dom    SH2   
Domain families : Pfam (Sanger)RasGEF (PF00617)    SH2 (PF00017)   
Domain families : Pfam (NCBI)pfam00617    pfam00017   
Domain families : Smart (EMBL)RasGEF (SM00147)  SH2 (SM00252)  
Conserved Domain (NCBI)SH2D3C
DMDM Disease mutations10044
Blocks (Seattle)SH2D3C
PDB (SRS)3T6G   
PDB (PDBSum)3T6G   
PDB (IMB)3T6G   
PDB (RSDB)3T6G   
Structural Biology KnowledgeBase3T6G   
SCOP (Structural Classification of Proteins)3T6G   
CATH (Classification of proteins structures)3T6G   
SuperfamilyQ8N5H7
Human Protein AtlasENSG00000095370
Peptide AtlasQ8N5H7
HPRD05284
IPIIPI00171093   IPI00640927   IPI00916634   IPI00735492   IPI00985206   IPI00641965   IPI00395969   IPI00641074   
Protein Interaction databases
DIP (DOE-UCLA)Q8N5H7
IntAct (EBI)Q8N5H7
FunCoupENSG00000095370
BioGRIDSH2D3C
STRING (EMBL)SH2D3C
ZODIACSH2D3C
Ontologies - Pathways
QuickGOQ8N5H7
Ontology : AmiGOSH3/SH2 adaptor activity  guanyl-nucleotide exchange factor activity  protein binding  cytoplasm  JNK cascade  small GTPase mediated signal transduction  positive regulation of signal transduction  membrane  positive regulation of GTPase activity  
Ontology : EGO-EBISH3/SH2 adaptor activity  guanyl-nucleotide exchange factor activity  protein binding  cytoplasm  JNK cascade  small GTPase mediated signal transduction  positive regulation of signal transduction  membrane  positive regulation of GTPase activity  
NDEx NetworkSH2D3C
Atlas of Cancer Signalling NetworkSH2D3C
Wikipedia pathwaysSH2D3C
Orthology - Evolution
OrthoDB10044
GeneTree (enSembl)ENSG00000095370
Phylogenetic Trees/Animal Genes : TreeFamSH2D3C
HOVERGENQ8N5H7
HOGENOMQ8N5H7
Homologs : HomoloGeneSH2D3C
Homology/Alignments : Family Browser (UCSC)SH2D3C
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSH2D3C [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SH2D3C
dbVarSH2D3C
ClinVarSH2D3C
1000_GenomesSH2D3C 
Exome Variant ServerSH2D3C
ExAC (Exome Aggregation Consortium)SH2D3C (select the gene name)
Genetic variants : HAPMAP10044
Genomic Variants (DGV)SH2D3C [DGVbeta]
DECIPHER (Syndromes)9:130500596-130524719  ENSG00000095370
CONAN: Copy Number AnalysisSH2D3C 
Mutations
ICGC Data PortalSH2D3C 
TCGA Data PortalSH2D3C 
Broad Tumor PortalSH2D3C
OASIS PortalSH2D3C [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSH2D3C  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSH2D3C
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SH2D3C
DgiDB (Drug Gene Interaction Database)SH2D3C
DoCM (Curated mutations)SH2D3C (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SH2D3C (select a term)
intoGenSH2D3C
Cancer3DSH2D3C(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604722   
Orphanet
MedgenSH2D3C
Genetic Testing Registry SH2D3C
NextProtQ8N5H7 [Medical]
TSGene10044
GENETestsSH2D3C
Huge Navigator SH2D3C [HugePedia]
snp3D : Map Gene to Disease10044
BioCentury BCIQSH2D3C
ClinGenSH2D3C
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10044
Chemical/Pharm GKB GenePA38191
Clinical trialSH2D3C
Miscellaneous
canSAR (ICR)SH2D3C (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSH2D3C
EVEXSH2D3C
GoPubMedSH2D3C
iHOPSH2D3C
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 13:27:07 CET 2017

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