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SH3TC2 (SH3 domain and tetratricopeptide repeats 2)

Identity

Alias (NCBI)CMT4C
MNMN
HGNC (Hugo) SH3TC2
HGNC Alias symbKIAA1985
CMT4C
LocusID (NCBI) 79628
Atlas_Id 73216
Location 5q32  [Link to chromosome band 5q32]
Location_base_pair Starts at 148982150 and ends at 149063062 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)
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    SH3 domain and tetratricopeptide repeats 2
AliasesCMT4C; MNMN
GeneCards (Weizmann)SH3TC2
Ensembl hg19 (Hinxton)ENSG00000169247 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000169247 [Gene_View]  ENSG00000169247 [Sequence]  chr5:148982150-149063062 [Contig_View]  SH3TC2 [Vega]
ICGC DataPortalENSG00000169247
TCGA cBioPortalSH3TC2
AceView (NCBI)SH3TC2
Genatlas (Paris)SH3TC2
SOURCE (Princeton)SH3TC2
Genetics Home Reference (NIH)SH3TC2
Genomic and cartography
GoldenPath hg38 (UCSC)SH3TC2  -     chr5:148982150-149063062 -  5q32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SH3TC2  -     5q32   [Description]    (hg19-Feb_2009)
GoldenPathSH3TC2 - 5q32 [CytoView hg19]  SH3TC2 - 5q32 [CytoView hg38]
ImmunoBaseENSG00000169247
Genome Data Viewer NCBISH3TC2 [Mapview hg19]  
OMIM601596   608206   613353   
Gene and transcription
Genbank (Entrez)AB075865 AF086088 AK023641 AK023667 AK092408
RefSeq transcript (Entrez)NM_024577
Consensus coding sequences : CCDS (NCBI)SH3TC2
Gene ExpressionSH3TC2 [ NCBI-GEO ]   SH3TC2 [ EBI - ARRAY_EXPRESS ]   SH3TC2 [ SEEK ]   SH3TC2 [ MEM ]
Gene Expression Viewer (FireBrowse)SH3TC2 [ Firebrowse - Broad ]
GenevisibleExpression of SH3TC2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79628
GTEX Portal (Tissue expression)SH3TC2
Human Protein AtlasENSG00000169247-SH3TC2 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ8TF17
Domaine pattern : Prosite (Expaxy)SH3 (PS50002)   
Domains : Interpro (EBI)SH3-like_dom_sf    SH3_domain    SH3TC1/SH3TC2    TPR-like_helical_dom_sf    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
SuperfamilyQ8TF17
AlphaFold pdb e-kbQ8TF17   
Human Protein Atlas [tissue]ENSG00000169247-SH3TC2 [tissue]
HPRD10496
Protein Interaction databases
DIP (DOE-UCLA)Q8TF17
IntAct (EBI)Q8TF17
BioGRIDSH3TC2
STRING (EMBL)SH3TC2
ZODIACSH3TC2
Ontologies - Pathways
QuickGOQ8TF17
Ontology : AmiGOplasma membrane  cytoplasmic vesicle  peripheral nervous system myelin maintenance  regulation of intracellular protein transport  regulation of ERBB signaling pathway  
Ontology : EGO-EBIplasma membrane  cytoplasmic vesicle  peripheral nervous system myelin maintenance  regulation of intracellular protein transport  regulation of ERBB signaling pathway  
NDEx NetworkSH3TC2
Atlas of Cancer Signalling NetworkSH3TC2
Wikipedia pathwaysSH3TC2
Orthology - Evolution
OrthoDB79628
GeneTree (enSembl)ENSG00000169247
Phylogenetic Trees/Animal Genes : TreeFamSH3TC2
Homologs : HomoloGeneSH3TC2
Homology/Alignments : Family Browser (UCSC)SH3TC2
Gene fusions - Rearrangements
Fusion : QuiverSH3TC2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSH3TC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SH3TC2
dbVarSH3TC2
ClinVarSH3TC2
MonarchSH3TC2
1000_GenomesSH3TC2 
Exome Variant ServerSH3TC2
GNOMAD BrowserENSG00000169247
Varsome BrowserSH3TC2
ACMGSH3TC2 variants
VarityQ8TF17
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]  
Somatic Mutations in Cancer : COSMIC3DSH3TC2
Mutations and Diseases : HGMDSH3TC2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSH3TC2
DgiDB (Drug Gene Interaction Database)SH3TC2
DoCM (Curated mutations)SH3TC2
CIViC (Clinical Interpretations of Variants in Cancer)SH3TC2
Cancer3DSH3TC2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601596    608206    613353   
Orphanet14522   
DisGeNETSH3TC2
MedgenSH3TC2
Genetic Testing Registry SH3TC2
NextProtQ8TF17 [Medical]
GENETestsSH3TC2
Target ValidationSH3TC2
Huge Navigator SH3TC2 [HugePedia]
ClinGenSH3TC2
Clinical trials, drugs, therapy
MyCancerGenomeSH3TC2
Protein Interactions : CTDSH3TC2
Pharm GKB GenePA134951912
PharosQ8TF17
Clinical trialSH3TC2
Miscellaneous
canSAR (ICR)SH3TC2
HarmonizomeSH3TC2
DataMed IndexSH3TC2
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSH3TC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 16:20:28 CEST 2021

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