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FCHSD2 (FCH and double SH3 domains 2)

Identity

Alias (NCBI)NWK
NWK1
SH3MD3
HGNC (Hugo) FCHSD2
HGNC Alias symbKIAA0769
HGNC Previous nameSH3MD3
HGNC Previous nameSH3 multiple domains 3
LocusID (NCBI) 9873
Atlas_Id 43258
Location 11q13.4  [Link to chromosome band 11q13]
Location_base_pair Starts at 72836745 and ends at 73142318 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)
ARHGAP32 (11q24.3) / FCHSD2 (11q13.4)ATG16L2 (11q13.4) / FCHSD2 (11q13.4)EHBP1L1 (11q13.1) / FCHSD2 (11q13.4)
FCHSD2 (11q13.4) / ATP6V1H (8q11.23)FCHSD2 (11q13.4) / CARNS1 (11q13.2)FCHSD2 (11q13.4) / CPT1A (11q13.3)
FCHSD2 (11q13.4) / CYP27C1 (2q14.3)FCHSD2 (11q13.4) / DTX4 (11q12.1)FCHSD2 (11q13.4) / FAM168A (11q13.4)
FCHSD2 (11q13.4) / GLOD4 (17p13.3)FCHSD2 (11q13.4) / GUCY1A2 (11q22.3)FCHSD2 (11q13.4) / PLEKHB1 (11q13.4)
FCHSD2 (11q13.4) / RALYL (8q21.2)FCHSD2 (11q13.4) / RNF169 (11q13.4)FCHSD2 (11q13.4) / THRA (17q21.1)
FCHSD2 (11q13.4) / UQCC3 (11q12.3)SPRYD3 (12q13.13) / FCHSD2 (11q13.4)STARD10 (11q13.4) / FCHSD2 (11q13.4)
ARHGAP32 11q24.3 / FCHSD2 11q13.4FCHSD2 11q13.4 / ATP6V1H 8q11.23FCHSD2 11q13.4 C11orf83
FCHSD2 11q13.4 / CPT1A 11q13.3FCHSD2 11q13.4 / DTX4 11q12.1FCHSD2 11q13.4 / FAM168A 11q13.4
FCHSD2 11q13.4 / GLOD4 17p13.3FCHSD2 11q13.4 / GUCY1A2 11q22.3FCHSD2 11q13.4 / PLEKHB1 11q13.4
FCHSD2 11q13.4 / RALYL 8q21.2FCHSD2 11q13.4 / RNF169 11q13.4SPRYD3 12q13.13 / FCHSD2 11q13.4

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 15 ]
  t(8;11)(q11;q13) FCHSD2/ATP6V1H
t(8;11)(q21;q13) FCHSD2/RALYL
t(11;11)(q12;q13) FCHSD2/DTX4
t(11;11)(q12;q13) FCHSD2/UQCC3
FCHSD2/CPT1A (11q13)
FCHSD2/FAM168A (11q13)
FCHSD2/PLEKHB1 (11q13)
FCHSD2/RNF169 (11q13)
SHANK2/FCHSD2 (11q13)
t(11;11)(q13;q14) PRCP/FCHSD2
t(11;11)(q13;q22) FCHSD2/GUCY1A2
t(11;11)(q13;q24) ARHGAP32/FCHSD2
t(11;12)(q13;q13) SPRYD3/FCHSD2
t(11;17)(q13;p13) FCHSD2/GLOD4
t(11;17)(q13;q21) FCHSD2/THRA

External links

Nomenclature
HGNC (Hugo)FCHSD2   29114
Cards
Entrez_Gene (NCBI)FCHSD2  9873  FCH and double SH3 domains 2
AliasesNWK; NWK1; SH3MD3
GeneCards (Weizmann)FCHSD2
Ensembl hg19 (Hinxton)ENSG00000137478 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000137478 [Gene_View]  ENSG00000137478 [Sequence]  chr11:72836745-73142318 [Contig_View]  FCHSD2 [Vega]
ICGC DataPortalENSG00000137478
TCGA cBioPortalFCHSD2
AceView (NCBI)FCHSD2
Genatlas (Paris)FCHSD2
WikiGenes9873
SOURCE (Princeton)FCHSD2
Genetics Home Reference (NIH)FCHSD2
Genomic and cartography
GoldenPath hg38 (UCSC)FCHSD2  -     chr11:72836745-73142318 -  11q13.4   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FCHSD2  -     11q13.4   [Description]    (hg19-Feb_2009)
GoldenPathFCHSD2 - 11q13.4 [CytoView hg19]  FCHSD2 - 11q13.4 [CytoView hg38]
ImmunoBaseENSG00000137478
genome Data Viewer NCBIFCHSD2 [Mapview hg19]  
OMIM617556   
Gene and transcription
Genbank (Entrez)AB018312 AK128381 AK296376 AK297928 AL080236
RefSeq transcript (Entrez)NM_014824
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FCHSD2
Alternative Splicing GalleryENSG00000137478
Gene ExpressionFCHSD2 [ NCBI-GEO ]   FCHSD2 [ EBI - ARRAY_EXPRESS ]   FCHSD2 [ SEEK ]   FCHSD2 [ MEM ]
Gene Expression Viewer (FireBrowse)FCHSD2 [ Firebrowse - Broad ]
GenevisibleExpression of FCHSD2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9873
GTEX Portal (Tissue expression)FCHSD2
Human Protein AtlasENSG00000137478-FCHSD2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO94868   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO94868  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO94868
Splice isoforms : SwissVarO94868
PhosPhoSitePlusO94868
Domaine pattern : Prosite (Expaxy)F_BAR (PS51741)    SH3 (PS50002)   
Domains : Interpro (EBI)AH/BAR_dom_sf    F_BAR    FCH_dom    FCHSD2    FCHSD2_SH3_2    FCHSD_SH3_1    SH3-like_dom_sf    SH3_domain   
Domain families : Pfam (Sanger)FCH (PF00611)    SH3_1 (PF00018)    SH3_9 (PF14604)   
Domain families : Pfam (NCBI)pfam00611    pfam00018    pfam14604   
Domain families : Smart (EMBL)FCH (SM00055)  SH3 (SM00326)  
Conserved Domain (NCBI)FCHSD2
DMDM Disease mutations9873
Blocks (Seattle)FCHSD2
PDB (RSDB)2DL5    2DL7    6GBU   
PDB Europe2DL5    2DL7    6GBU   
PDB (PDBSum)2DL5    2DL7    6GBU   
PDB (IMB)2DL5    2DL7    6GBU   
Structural Biology KnowledgeBase2DL5    2DL7    6GBU   
SCOP (Structural Classification of Proteins)2DL5    2DL7    6GBU   
CATH (Classification of proteins structures)2DL5    2DL7    6GBU   
SuperfamilyO94868
Human Protein Atlas [tissue]ENSG00000137478-FCHSD2 [tissue]
Peptide AtlasO94868
HPRD13321
IPIIPI00827702   IPI00410639   IPI00828164   IPI00910791   IPI00917388   IPI00917103   IPI01010956   IPI01011376   IPI01013549   
Protein Interaction databases
DIP (DOE-UCLA)O94868
IntAct (EBI)O94868
FunCoupENSG00000137478
BioGRIDFCHSD2
STRING (EMBL)FCHSD2
ZODIACFCHSD2
Ontologies - Pathways
QuickGOO94868
Ontology : AmiGOprotein binding  phosphatidylinositol-3,4,5-trisphosphate binding  plasma membrane  clathrin-coated pit  neuromuscular synaptic transmission  protein transport  regulation of actin filament polymerization  positive regulation of actin filament polymerization  neuromuscular junction  phosphatidylinositol-3,4-bisphosphate binding  multi-organism membrane organization  recycling endosome  clathrin-dependent endocytosis  stereocilium shaft  positive regulation of Arp2/3 complex-mediated actin nucleation  
Ontology : EGO-EBIprotein binding  phosphatidylinositol-3,4,5-trisphosphate binding  plasma membrane  clathrin-coated pit  neuromuscular synaptic transmission  protein transport  regulation of actin filament polymerization  positive regulation of actin filament polymerization  neuromuscular junction  phosphatidylinositol-3,4-bisphosphate binding  multi-organism membrane organization  recycling endosome  clathrin-dependent endocytosis  stereocilium shaft  positive regulation of Arp2/3 complex-mediated actin nucleation  
NDEx NetworkFCHSD2
Atlas of Cancer Signalling NetworkFCHSD2
Wikipedia pathwaysFCHSD2
Orthology - Evolution
OrthoDB9873
GeneTree (enSembl)ENSG00000137478
Phylogenetic Trees/Animal Genes : TreeFamFCHSD2
HOGENOMO94868
Homologs : HomoloGeneFCHSD2
Homology/Alignments : Family Browser (UCSC)FCHSD2
Gene fusions - Rearrangements
Fusion : MitelmanARHGAP32/FCHSD2 [11q24.3/11q13.4]  
Fusion : MitelmanFCHSD2/ATP6V1H [11q13.4/8q11.23]  
Fusion : MitelmanFCHSD2/CPT1A [11q13.4/11q13.3]  
Fusion : MitelmanFCHSD2/DTX4 [11q13.4/11q12.1]  
Fusion : MitelmanFCHSD2/FAM168A [11q13.4/11q13.4]  
Fusion : MitelmanFCHSD2/GLOD4 [11q13.4/17p13.3]  
Fusion : MitelmanFCHSD2/GUCY1A2 [11q13.4/11q22.3]  
Fusion : MitelmanFCHSD2/PLEKHB1 [11q13.4/11q13.4]  
Fusion : MitelmanFCHSD2/RALYL [11q13.4/8q21.2]  
Fusion : MitelmanFCHSD2/RNF169 [11q13.4/11q13.4]  
Fusion : MitelmanFCHSD2/THRA [11q13.4/17q21.1]  
Fusion : MitelmanFCHSD2/UQCC3 [11q13.4/11q12.3]  
Fusion : MitelmanSPRYD3/FCHSD2 [12q13.13/11q13.4]  
Fusion PortalARHGAP32 11q24.3 FCHSD2 11q13.4 BRCA
Fusion PortalFCHSD2 11q13.4 ATP6V1H 8q11.23 SKCM
Fusion PortalFCHSD2 11q13.4 C11orf83 BRCA
Fusion PortalFCHSD2 11q13.4 CPT1A 11q13.3 BRCA
Fusion PortalFCHSD2 11q13.4 DTX4 11q12.1 BRCA
Fusion PortalFCHSD2 11q13.4 FAM168A 11q13.4 BRCA
Fusion PortalFCHSD2 11q13.4 GLOD4 17p13.3 HNSC
Fusion PortalFCHSD2 11q13.4 GUCY1A2 11q22.3 HNSC
Fusion PortalFCHSD2 11q13.4 PLEKHB1 11q13.4 BRCA
Fusion PortalFCHSD2 11q13.4 RALYL 8q21.2 BRCA
Fusion PortalFCHSD2 11q13.4 RNF169 11q13.4 BRCA
Fusion PortalSPRYD3 12q13.13 FCHSD2 11q13.4 LGG
Fusion : QuiverFCHSD2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFCHSD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FCHSD2
dbVarFCHSD2
ClinVarFCHSD2
MonarchFCHSD2
1000_GenomesFCHSD2 
Exome Variant ServerFCHSD2
GNOMAD BrowserENSG00000137478
Varsome BrowserFCHSD2
Genetic variants : HAPMAP9873
Genomic Variants (DGV)FCHSD2 [DGVbeta]
DECIPHERFCHSD2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFCHSD2 
Mutations
ICGC Data PortalFCHSD2 
TCGA Data PortalFCHSD2 
Broad Tumor PortalFCHSD2
OASIS PortalFCHSD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFCHSD2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DFCHSD2
Mutations and Diseases : HGMDFCHSD2
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 FCHSD2
DgiDB (Drug Gene Interaction Database)FCHSD2
DoCM (Curated mutations)FCHSD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FCHSD2 (select a term)
intoGenFCHSD2
Cancer3DFCHSD2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617556   
Orphanet
DisGeNETFCHSD2
MedgenFCHSD2
Genetic Testing Registry FCHSD2
NextProtO94868 [Medical]
TSGene9873
GENETestsFCHSD2
Target ValidationFCHSD2
Huge Navigator FCHSD2 [HugePedia]
snp3D : Map Gene to Disease9873
BioCentury BCIQFCHSD2
ClinGenFCHSD2
Clinical trials, drugs, therapy
Protein Interactions : CTD9873
Pharm GKB GenePA128394562
Clinical trialFCHSD2
Miscellaneous
canSAR (ICR)FCHSD2 (select the gene name)
HarmonizomeFCHSD2
DataMed IndexFCHSD2
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFCHSD2
EVEXFCHSD2
GoPubMedFCHSD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 14 14:11:14 CEST 2020
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