Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

CCM2L (CCM2 like scaffolding protein)

Identity

Alias_namesC20orf160
chromosome 20 open reading frame 160
cerebral cavernous malformation 2-like
Alias_symbol (synonym)dJ310O13.5
Other alias
HGNC (Hugo) CCM2L
LocusID (NCBI) 140706
Atlas_Id 61592
Location 20q11.21  [Link to chromosome band 20q11]
Location_base_pair Starts at 32010442 and ends at 32032181 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)
HCK (20q11.21) / CCM2L (20q11.21)

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)CCM2L   16153
Cards
Entrez_Gene (NCBI)CCM2L  140706  CCM2 like scaffolding protein
AliasesC20orf160; dJ310O13.5
GeneCards (Weizmann)CCM2L
Ensembl hg19 (Hinxton)ENSG00000101331 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000101331 [Gene_View]  chr20:32010442-32032181 [Contig_View]  CCM2L [Vega]
ICGC DataPortalENSG00000101331
TCGA cBioPortalCCM2L
AceView (NCBI)CCM2L
Genatlas (Paris)CCM2L
WikiGenes140706
SOURCE (Princeton)CCM2L
Genetics Home Reference (NIH)CCM2L
Genomic and cartography
GoldenPath hg38 (UCSC)CCM2L  -     chr20:32010442-32032181 +  20q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CCM2L  -     20q11.21   [Description]    (hg19-Feb_2009)
EnsemblCCM2L - 20q11.21 [CytoView hg19]  CCM2L - 20q11.21 [CytoView hg38]
Mapping of homologs : NCBICCM2L [Mapview hg19]  CCM2L [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK057090 AK125588 BC019892 BC030254 BC032455
RefSeq transcript (Entrez)NM_080625
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CCM2L
Cluster EST : UnigeneHs.638682 [ NCBI ]
CGAP (NCI)Hs.638682
Alternative Splicing GalleryENSG00000101331
Gene ExpressionCCM2L [ NCBI-GEO ]   CCM2L [ EBI - ARRAY_EXPRESS ]   CCM2L [ SEEK ]   CCM2L [ MEM ]
Gene Expression Viewer (FireBrowse)CCM2L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)140706
GTEX Portal (Tissue expression)CCM2L
Human Protein AtlasENSG00000101331-CCM2L [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NUG4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NUG4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NUG4
Splice isoforms : SwissVarQ9NUG4
PhosPhoSitePlusQ9NUG4
Domains : Interpro (EBI)CCM2_C   
Domain families : Pfam (Sanger)CCM2_C (PF16545)   
Domain families : Pfam (NCBI)pfam16545   
Conserved Domain (NCBI)CCM2L
DMDM Disease mutations140706
Blocks (Seattle)CCM2L
SuperfamilyQ9NUG4
Human Protein Atlas [tissue]ENSG00000101331-CCM2L [tissue]
Peptide AtlasQ9NUG4
HPRD12753
IPIIPI00328749   IPI00167007   IPI00307678   IPI00742949   
Protein Interaction databases
DIP (DOE-UCLA)Q9NUG4
IntAct (EBI)Q9NUG4
FunCoupENSG00000101331
BioGRIDCCM2L
STRING (EMBL)CCM2L
ZODIACCCM2L
Ontologies - Pathways
QuickGOQ9NUG4
Ontology : AmiGOcardiac atrium morphogenesis  ventricular trabecula myocardium morphogenesis  molecular_function  cellular_component  biological_process  negative regulation of protein binding  negative regulation of homotypic cell-cell adhesion  wound healing  cardiac muscle tissue growth  positive regulation of fibroblast growth factor production  
Ontology : EGO-EBIcardiac atrium morphogenesis  ventricular trabecula myocardium morphogenesis  molecular_function  cellular_component  biological_process  negative regulation of protein binding  negative regulation of homotypic cell-cell adhesion  wound healing  cardiac muscle tissue growth  positive regulation of fibroblast growth factor production  
NDEx NetworkCCM2L
Atlas of Cancer Signalling NetworkCCM2L
Wikipedia pathwaysCCM2L
Orthology - Evolution
OrthoDB140706
GeneTree (enSembl)ENSG00000101331
Phylogenetic Trees/Animal Genes : TreeFamCCM2L
HOVERGENQ9NUG4
HOGENOMQ9NUG4
Homologs : HomoloGeneCCM2L
Homology/Alignments : Family Browser (UCSC)CCM2L
Gene fusions - Rearrangements
Fusion: Tumor Portal CCM2L
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCCM2L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CCM2L
dbVarCCM2L
ClinVarCCM2L
1000_GenomesCCM2L 
Exome Variant ServerCCM2L
ExAC (Exome Aggregation Consortium)ENSG00000101331
GNOMAD BrowserENSG00000101331
Genetic variants : HAPMAP140706
Genomic Variants (DGV)CCM2L [DGVbeta]
DECIPHERCCM2L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCCM2L 
Mutations
ICGC Data PortalCCM2L 
TCGA Data PortalCCM2L 
Broad Tumor PortalCCM2L
OASIS PortalCCM2L [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDCCM2L
BioMutasearch CCM2L
DgiDB (Drug Gene Interaction Database)CCM2L
DoCM (Curated mutations)CCM2L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CCM2L (select a term)
intoGenCCM2L
Cancer3DCCM2L(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenCCM2L
Genetic Testing Registry CCM2L
NextProtQ9NUG4 [Medical]
TSGene140706
GENETestsCCM2L
Target ValidationCCM2L
Huge Navigator CCM2L [HugePedia]
snp3D : Map Gene to Disease140706
BioCentury BCIQCCM2L
ClinGenCCM2L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD140706
Chemical/Pharm GKB GenePA25702
Clinical trialCCM2L
Miscellaneous
canSAR (ICR)CCM2L (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCCM2L
EVEXCCM2L
GoPubMedCCM2L
iHOPCCM2L
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 : Thu Nov 9 11:41:54 CET 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.