Atlas of Genetics and Cytogenetics in Oncology and Haematology


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MCF2L2 (MCF.2 cell line derived transforming sequence-like 2)

Identity

Alias_symbol (synonym)KIAA0861
ARHGEF22
Other alias
HGNC (Hugo) MCF2L2
LocusID (NCBI) 23101
Atlas_Id 42941
Location 3q27.1  [Link to chromosome band 3q27]
Location_base_pair Starts at 183178004 and ends at 183428269 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)
C2orf61 (2p21) / MCF2L2 (3q27.1)CCDC39 (3q26.33) / MCF2L2 (3q27.1)MCF2L2 (3q27.1) / MIR548A3 (3q13.11)
PPM1L (3q25.33) / MCF2L2 (3q27.1)

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) [ 1 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)MCF2L2   30319
Cards
Entrez_Gene (NCBI)MCF2L2  23101  MCF.2 cell line derived transforming sequence-like 2
AliasesARHGEF22
GeneCards (Weizmann)MCF2L2
Ensembl hg19 (Hinxton)ENSG00000053524 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000053524 [Gene_View]  chr3:183178004-183428269 [Contig_View]  MCF2L2 [Vega]
ICGC DataPortalENSG00000053524
TCGA cBioPortalMCF2L2
AceView (NCBI)MCF2L2
Genatlas (Paris)MCF2L2
WikiGenes23101
SOURCE (Princeton)MCF2L2
Genetics Home Reference (NIH)MCF2L2
Genomic and cartography
GoldenPath hg38 (UCSC)MCF2L2  -     chr3:183178004-183428269 -  3q27.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MCF2L2  -     3q27.1   [Description]    (hg19-Feb_2009)
EnsemblMCF2L2 - 3q27.1 [CytoView hg19]  MCF2L2 - 3q27.1 [CytoView hg38]
Mapping of homologs : NCBIMCF2L2 [Mapview hg19]  MCF2L2 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB020668 AK124500 AK301698 AK310962 AY172737
RefSeq transcript (Entrez)NM_015078
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MCF2L2
Cluster EST : UnigeneHs.208267 [ NCBI ]
CGAP (NCI)Hs.208267
Alternative Splicing GalleryENSG00000053524
Gene ExpressionMCF2L2 [ NCBI-GEO ]   MCF2L2 [ EBI - ARRAY_EXPRESS ]   MCF2L2 [ SEEK ]   MCF2L2 [ MEM ]
Gene Expression Viewer (FireBrowse)MCF2L2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23101
GTEX Portal (Tissue expression)MCF2L2
Human Protein AtlasENSG00000053524-MCF2L2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86YR7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86YR7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86YR7
Splice isoforms : SwissVarQ86YR7
PhosPhoSitePlusQ86YR7
Domaine pattern : Prosite (Expaxy)CRAL_TRIO (PS50191)    DH_2 (PS50010)    PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)CRAL-TRIO_dom    DH-domain    PH_dom-like    PH_domain    Spectrin/alpha-actinin   
Domain families : Pfam (Sanger)CRAL_TRIO_2 (PF13716)    RhoGEF (PF00621)   
Domain families : Pfam (NCBI)pfam13716    pfam00621   
Domain families : Smart (EMBL)PH (SM00233)  RhoGEF (SM00325)  SEC14 (SM00516)  SPEC (SM00150)  
Conserved Domain (NCBI)MCF2L2
DMDM Disease mutations23101
Blocks (Seattle)MCF2L2
SuperfamilyQ86YR7
Human Protein Atlas [tissue]ENSG00000053524-MCF2L2 [tissue]
Peptide AtlasQ86YR7
HPRD08308
IPIIPI00175989   IPI00893924   IPI00792233   IPI00792687   IPI00909381   IPI00947367   
Protein Interaction databases
DIP (DOE-UCLA)Q86YR7
IntAct (EBI)Q86YR7
FunCoupENSG00000053524
BioGRIDMCF2L2
STRING (EMBL)MCF2L2
ZODIACMCF2L2
Ontologies - Pathways
QuickGOQ86YR7
Ontology : AmiGORho guanyl-nucleotide exchange factor activity  regulation of Rho protein signal transduction  positive regulation of GTPase activity  
Ontology : EGO-EBIRho guanyl-nucleotide exchange factor activity  regulation of Rho protein signal transduction  positive regulation of GTPase activity  
NDEx NetworkMCF2L2
Atlas of Cancer Signalling NetworkMCF2L2
Wikipedia pathwaysMCF2L2
Orthology - Evolution
OrthoDB23101
GeneTree (enSembl)ENSG00000053524
Phylogenetic Trees/Animal Genes : TreeFamMCF2L2
HOVERGENQ86YR7
HOGENOMQ86YR7
Homologs : HomoloGeneMCF2L2
Homology/Alignments : Family Browser (UCSC)MCF2L2
Gene fusions - Rearrangements
Fusion : MitelmanCCDC39/MCF2L2 [3q26.33/3q27.1]  [t(3;3)(q26;q27)]  
Fusion : MitelmanMCF2L2/MIR548A3 [3q27.1/3q13.11]  [t(3;8)(q27;q22)]  
Fusion : MitelmanPPM1L/MCF2L2 [3q25.33/3q27.1]  [t(3;3)(q25;q27)]  
Tumor Fusion PortalMCF2L2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMCF2L2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MCF2L2
dbVarMCF2L2
ClinVarMCF2L2
1000_GenomesMCF2L2 
Exome Variant ServerMCF2L2
ExAC (Exome Aggregation Consortium)ENSG00000053524
GNOMAD BrowserENSG00000053524
Genetic variants : HAPMAP23101
Genomic Variants (DGV)MCF2L2 [DGVbeta]
DECIPHERMCF2L2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMCF2L2 
Mutations
ICGC Data PortalMCF2L2 
TCGA Data PortalMCF2L2 
Broad Tumor PortalMCF2L2
OASIS PortalMCF2L2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMCF2L2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMCF2L2
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 MCF2L2
DgiDB (Drug Gene Interaction Database)MCF2L2
DoCM (Curated mutations)MCF2L2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MCF2L2 (select a term)
intoGenMCF2L2
Cancer3DMCF2L2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETMCF2L2
MedgenMCF2L2
Genetic Testing Registry MCF2L2
NextProtQ86YR7 [Medical]
TSGene23101
GENETestsMCF2L2
Target ValidationMCF2L2
Huge Navigator MCF2L2 [HugePedia]
snp3D : Map Gene to Disease23101
BioCentury BCIQMCF2L2
ClinGenMCF2L2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23101
Chemical/Pharm GKB GenePA134863801
Clinical trialMCF2L2
Miscellaneous
canSAR (ICR)MCF2L2 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMCF2L2
EVEXMCF2L2
GoPubMedMCF2L2
iHOPMCF2L2
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 : Tue Nov 21 14:21:54 CET 2017

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