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SH3TC2 (SH3 domain and tetratricopeptide repeats 2)

Identity

Alias_symbol (synonym)KIAA1985
CMT4C
Other aliasMNMN
HGNC (Hugo) SH3TC2
LocusID (NCBI) 79628
Atlas_Id 73216
Location 5q32  [Link to chromosome band 5q32]
Location_base_pair Starts at 148982150 and ends at 149063174 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
SH3TC2 (5q32) / IPO11 (5q12.1)SH3TC2 (5q32) / SH3TC2 (5q32)

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)SH3TC2   29427
LRG (Locus Reference Genomic)LRG_269
Cards
Entrez_Gene (NCBI)SH3TC2  79628  SH3 domain and tetratricopeptide repeats 2
AliasesCMT4C; MNMN
GeneCards (Weizmann)SH3TC2
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr5:148982150-149063174 [Contig_View]  SH3TC2 [Vega]
TCGA cBioPortalSH3TC2
AceView (NCBI)SH3TC2
Genatlas (Paris)SH3TC2
WikiGenes79628
SOURCE (Princeton)SH3TC2
Genetics Home Reference (NIH)SH3TC2
Genomic and cartography
GoldenPath hg38 (UCSC)SH3TC2  -     chr5:148982150-149063174 -  5q32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SH3TC2  -     5q32   [Description]    (hg19-Feb_2009)
EnsemblSH3TC2 - 5q32 [CytoView hg19]  SH3TC2 - 5q32 [CytoView hg38]
Mapping of homologs : NCBISH3TC2 [Mapview hg19]  SH3TC2 [Mapview hg38]
OMIM601596   608206   613353   
Gene and transcription
Genbank (Entrez)AB075865 AF086088 AK023641 AK023667 AK092408
RefSeq transcript (Entrez)NM_024577
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SH3TC2
Cluster EST : UnigeneHs.483784 [ NCBI ]
CGAP (NCI)Hs.483784
Gene ExpressionSH3TC2 [ NCBI-GEO ]   SH3TC2 [ EBI - ARRAY_EXPRESS ]   SH3TC2 [ SEEK ]   SH3TC2 [ MEM ]
Gene Expression Viewer (FireBrowse)SH3TC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79628
GTEX Portal (Tissue expression)SH3TC2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TF17   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TF17  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TF17
Splice isoforms : SwissVarQ8TF17
PhosPhoSitePlusQ8TF17
Domaine pattern : Prosite (Expaxy)SH3 (PS50002)   
Domains : Interpro (EBI)SH3_domain    TPR-like_helical_dom    TPR_repeat   
Domain families : Pfam (Sanger)SH3_1 (PF00018)   
Domain families : Pfam (NCBI)pfam00018   
Domain families : Smart (EMBL)SH3 (SM00326)  TPR (SM00028)  
Conserved Domain (NCBI)SH3TC2
DMDM Disease mutations79628
Blocks (Seattle)SH3TC2
SuperfamilyQ8TF17
Peptide AtlasQ8TF17
HPRD10496
IPIIPI00394968   IPI00291798   IPI00410020   IPI00922877   IPI00964295   IPI00965740   IPI00966007   IPI00965241   IPI00929204   
Protein Interaction databases
DIP (DOE-UCLA)Q8TF17
IntAct (EBI)Q8TF17
BioGRIDSH3TC2
STRING (EMBL)SH3TC2
ZODIACSH3TC2
Ontologies - Pathways
QuickGOQ8TF17
Ontology : AmiGOplasma membrane  peripheral nervous system myelin maintenance  regulation of intracellular protein transport  recycling endosome  regulation of ERBB signaling pathway  
Ontology : EGO-EBIplasma membrane  peripheral nervous system myelin maintenance  regulation of intracellular protein transport  recycling endosome  regulation of ERBB signaling pathway  
NDEx NetworkSH3TC2
Atlas of Cancer Signalling NetworkSH3TC2
Wikipedia pathwaysSH3TC2
Orthology - Evolution
OrthoDB79628
Phylogenetic Trees/Animal Genes : TreeFamSH3TC2
HOVERGENQ8TF17
HOGENOMQ8TF17
Homologs : HomoloGeneSH3TC2
Homology/Alignments : Family Browser (UCSC)SH3TC2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSH3TC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SH3TC2
dbVarSH3TC2
ClinVarSH3TC2
1000_GenomesSH3TC2 
Exome Variant ServerSH3TC2
ExAC (Exome Aggregation Consortium)SH3TC2 (select the gene name)
Genetic variants : HAPMAP79628
Genomic Variants (DGV)SH3TC2 [DGVbeta]
DECIPHERSH3TC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSH3TC2 
Mutations
ICGC Data PortalSH3TC2 
TCGA Data PortalSH3TC2 
Broad Tumor PortalSH3TC2
OASIS PortalSH3TC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSH3TC2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSH3TC2
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 SH3TC2
DgiDB (Drug Gene Interaction Database)SH3TC2
DoCM (Curated mutations)SH3TC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SH3TC2 (select a term)
intoGenSH3TC2
Cancer3DSH3TC2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601596    608206    613353   
Orphanet14522   
MedgenSH3TC2
Genetic Testing Registry SH3TC2
NextProtQ8TF17 [Medical]
TSGene79628
GENETestsSH3TC2
Target ValidationSH3TC2
Huge Navigator SH3TC2 [HugePedia]
snp3D : Map Gene to Disease79628
BioCentury BCIQSH3TC2
ClinGenSH3TC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79628
Chemical/Pharm GKB GenePA134951912
Clinical trialSH3TC2
Miscellaneous
canSAR (ICR)SH3TC2 (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSH3TC2
EVEXSH3TC2
GoPubMedSH3TC2
iHOPSH3TC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:40:40 CEST 2017

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