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FCHO2 (FCH and mu domain containing endocytic adaptor 2)

Identity

Alias (NCBI)-
HGNC (Hugo) FCHO2
HGNC Previous nameFCH domain only 2
LocusID (NCBI) 115548
Atlas_Id 53000
Location 5q13.2  [Link to chromosome band 5q13]
Location_base_pair Starts at 72956041 and ends at 73090522 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)
CLTC (17q23.1)::FCHO2 (5q13.2)ETV6 (12p13.2)::FCHO2 (5q13.2)FCHO2 (5q13.2)::CSH1 (17q23.3)
FCHO2 (5q13.2)::FCHO2 (5q13.2)FCHO2 (5q13.2)::ZNF271P (18q12.2)GART (21q22.11)::FCHO2 (5q13.2)

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(12;12)(p13;q13) ETV6::BAZ2A


External links

 

Nomenclature
HGNC (Hugo)FCHO2   25180
Cards
Entrez_Gene (NCBI)FCHO2    FCH and mu domain containing endocytic adaptor 2
Aliases
GeneCards (Weizmann)FCHO2
Ensembl hg19 (Hinxton)ENSG00000157107 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000157107 [Gene_View]  ENSG00000157107 [Sequence]  chr5:72956041-73090522 [Contig_View]  FCHO2 [Vega]
ICGC DataPortalENSG00000157107
TCGA cBioPortalFCHO2
AceView (NCBI)FCHO2
Genatlas (Paris)FCHO2
SOURCE (Princeton)FCHO2
Genetics Home Reference (NIH)FCHO2
Genomic and cartography
GoldenPath hg38 (UCSC)FCHO2  -     chr5:72956041-73090522 +  5q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FCHO2  -     5q13.2   [Description]    (hg19-Feb_2009)
GoldenPathFCHO2 - 5q13.2 [CytoView hg19]  FCHO2 - 5q13.2 [CytoView hg38]
ImmunoBaseENSG00000157107
Genome Data Viewer NCBIFCHO2 [Mapview hg19]  
OMIM613438   
Gene and transcription
Genbank (Entrez)AK291782 AK293796 AK295141 AL831971 AL832928
RefSeq transcript (Entrez)NM_001146032 NM_138782
Consensus coding sequences : CCDS (NCBI)FCHO2
Gene ExpressionFCHO2 [ NCBI-GEO ]   FCHO2 [ EBI - ARRAY_EXPRESS ]   FCHO2 [ SEEK ]   FCHO2 [ MEM ]
Gene Expression Viewer (FireBrowse)FCHO2 [ Firebrowse - Broad ]
GenevisibleExpression of FCHO2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)115548
GTEX Portal (Tissue expression)FCHO2
Human Protein AtlasENSG00000157107-FCHO2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ0JRZ9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ0JRZ9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ0JRZ9
PhosPhoSitePlusQ0JRZ9
Domaine pattern : Prosite (Expaxy)F_BAR (PS51741)    MHD (PS51072)   
Domains : Interpro (EBI)AH/BAR_dom_sf    F_BAR    FCH_dom    FCHo2    MHD    Muniscin_C   
Domain families : Pfam (Sanger)FCH (PF00611)    muHD (PF10291)   
Domain families : Pfam (NCBI)pfam00611    pfam10291   
Domain families : Smart (EMBL)FCH (SM00055)  
Conserved Domain (NCBI)FCHO2
PDB (RSDB)2V0O   
PDB Europe2V0O   
PDB (PDBSum)2V0O   
PDB (IMB)2V0O   
Structural Biology KnowledgeBase2V0O   
SCOP (Structural Classification of Proteins)2V0O   
CATH (Classification of proteins structures)2V0O   
SuperfamilyQ0JRZ9
AlphaFold pdb e-kbQ0JRZ9   
Human Protein Atlas [tissue]ENSG00000157107-FCHO2 [tissue]
HPRD13319
Protein Interaction databases
DIP (DOE-UCLA)Q0JRZ9
IntAct (EBI)Q0JRZ9
BioGRIDFCHO2
STRING (EMBL)FCHO2
ZODIACFCHO2
Ontologies - Pathways
QuickGOQ0JRZ9
Ontology : AmiGOphosphatidylserine binding  protein binding  phosphatidylinositol-4,5-bisphosphate binding  cytoplasm  cytosol  plasma membrane  plasma membrane  clathrin-coated pit  clathrin-coated pit  membrane invagination  clathrin-coated vesicle  clathrin-coated vesicle  phosphatidylinositol binding  identical protein binding  clathrin coat assembly  clathrin coat assembly  synaptic vesicle endocytosis  membrane organization  clathrin-dependent endocytosis  clathrin-dependent endocytosis  protein localization to plasma membrane  presynaptic endocytic zone membrane  
Ontology : EGO-EBIphosphatidylserine binding  protein binding  phosphatidylinositol-4,5-bisphosphate binding  cytoplasm  cytosol  plasma membrane  plasma membrane  clathrin-coated pit  clathrin-coated pit  membrane invagination  clathrin-coated vesicle  clathrin-coated vesicle  phosphatidylinositol binding  identical protein binding  clathrin coat assembly  clathrin coat assembly  synaptic vesicle endocytosis  membrane organization  clathrin-dependent endocytosis  clathrin-dependent endocytosis  protein localization to plasma membrane  presynaptic endocytic zone membrane  
NDEx NetworkFCHO2
Atlas of Cancer Signalling NetworkFCHO2
Wikipedia pathwaysFCHO2
Orthology - Evolution
OrthoDB115548
GeneTree (enSembl)ENSG00000157107
Phylogenetic Trees/Animal Genes : TreeFamFCHO2
Homologs : HomoloGeneFCHO2
Homology/Alignments : Family Browser (UCSC)FCHO2
Gene fusions - Rearrangements
Fusion : QuiverFCHO2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFCHO2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FCHO2
dbVarFCHO2
ClinVarFCHO2
MonarchFCHO2
1000_GenomesFCHO2 
Exome Variant ServerFCHO2
GNOMAD BrowserENSG00000157107
Varsome BrowserFCHO2
ACMGFCHO2 variants
VarityQ0JRZ9
Genomic Variants (DGV)FCHO2 [DGVbeta]
DECIPHERFCHO2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFCHO2 
Mutations
ICGC Data PortalFCHO2 
TCGA Data PortalFCHO2 
Broad Tumor PortalFCHO2
OASIS PortalFCHO2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFCHO2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DFCHO2
Mutations and Diseases : HGMDFCHO2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaFCHO2
DgiDB (Drug Gene Interaction Database)FCHO2
DoCM (Curated mutations)FCHO2
CIViC (Clinical Interpretations of Variants in Cancer)FCHO2
Cancer3DFCHO2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613438   
Orphanet
DisGeNETFCHO2
MedgenFCHO2
Genetic Testing Registry FCHO2
NextProtQ0JRZ9 [Medical]
GENETestsFCHO2
Target ValidationFCHO2
Huge Navigator FCHO2 [HugePedia]
ClinGenFCHO2
Clinical trials, drugs, therapy
MyCancerGenomeFCHO2
Protein Interactions : CTDFCHO2
Pharm GKB GenePA134911830
PharosQ0JRZ9
Clinical trialFCHO2
Miscellaneous
canSAR (ICR)FCHO2
HarmonizomeFCHO2
ARCHS4FCHO2
DataMed IndexFCHO2
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXFCHO2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Jan 16 18:10:48 CET 2022

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