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

CC2D1A (coiled-coil and C2 domain containing 1A)

Identity

Alias_namesnonsyndromic
autosomal recessive
Alias_symbol (synonym)FLJ20241
MRT3
Other aliasFREUD-1
Freud-1/Aki1
HGNC (Hugo) CC2D1A
LocusID (NCBI) 54862
Atlas_Id 52323
Location 19p13.12  [Link to chromosome band 19p13]
Location_base_pair Starts at 13906143 and ends at 13930880 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CC2D1A (19p13.12) / MED10 (5p15.31)CC2D1A (19p13.12) / RNF207 (1p36.31)CC2D1A 19p13.12 / RNF207 1p36.31

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)CC2D1A   30237
Cards
Entrez_Gene (NCBI)CC2D1A  54862  coiled-coil and C2 domain containing 1A
AliasesFREUD-1; Freud-1/Aki1; MRT3
GeneCards (Weizmann)CC2D1A
Ensembl hg19 (Hinxton)ENSG00000132024 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000132024 [Gene_View]  chr19:13906143-13930880 [Contig_View]  CC2D1A [Vega]
ICGC DataPortalENSG00000132024
TCGA cBioPortalCC2D1A
AceView (NCBI)CC2D1A
Genatlas (Paris)CC2D1A
WikiGenes54862
SOURCE (Princeton)CC2D1A
Genetics Home Reference (NIH)CC2D1A
Genomic and cartography
GoldenPath hg38 (UCSC)CC2D1A  -     chr19:13906143-13930880 +  19p13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CC2D1A  -     19p13.12   [Description]    (hg19-Feb_2009)
EnsemblCC2D1A - 19p13.12 [CytoView hg19]  CC2D1A - 19p13.12 [CytoView hg38]
Mapping of homologs : NCBICC2D1A [Mapview hg19]  CC2D1A [Mapview hg38]
OMIM608443   610055   
Gene and transcription
Genbank (Entrez)AB097002 AF536205 AK000248 AK023399 AK026371
RefSeq transcript (Entrez)NM_017721
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CC2D1A
Cluster EST : UnigeneHs.269592 [ NCBI ]
CGAP (NCI)Hs.269592
Alternative Splicing GalleryENSG00000132024
Gene ExpressionCC2D1A [ NCBI-GEO ]   CC2D1A [ EBI - ARRAY_EXPRESS ]   CC2D1A [ SEEK ]   CC2D1A [ MEM ]
Gene Expression Viewer (FireBrowse)CC2D1A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54862
GTEX Portal (Tissue expression)CC2D1A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6P1N0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6P1N0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6P1N0
Splice isoforms : SwissVarQ6P1N0
PhosPhoSitePlusQ6P1N0
Domains : Interpro (EBI)C2_dom    DM14   
Domain families : Pfam (Sanger)C2 (PF00168)   
Domain families : Pfam (NCBI)pfam00168   
Domain families : Smart (EMBL)C2 (SM00239)  DM14 (SM00685)  
Conserved Domain (NCBI)CC2D1A
DMDM Disease mutations54862
Blocks (Seattle)CC2D1A
SuperfamilyQ6P1N0
Human Protein AtlasENSG00000132024
Peptide AtlasQ6P1N0
HPRD08616
IPIIPI00302647   IPI00759686   IPI00743836   IPI00939141   IPI00183065   
Protein Interaction databases
DIP (DOE-UCLA)Q6P1N0
IntAct (EBI)Q6P1N0
FunCoupENSG00000132024
BioGRIDCC2D1A
STRING (EMBL)CC2D1A
ZODIACCC2D1A
Ontologies - Pathways
QuickGOQ6P1N0
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  fibrillar center  signal transducer activity  protein binding  nucleus  microtubule organizing center  cytosol  plasma membrane  transcription, DNA-templated  signal transduction  membrane  positive regulation of I-kappaB kinase/NF-kappaB signaling  cadherin binding  extracellular exosome  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  fibrillar center  signal transducer activity  protein binding  nucleus  microtubule organizing center  cytosol  plasma membrane  transcription, DNA-templated  signal transduction  membrane  positive regulation of I-kappaB kinase/NF-kappaB signaling  cadherin binding  extracellular exosome  
NDEx NetworkCC2D1A
Atlas of Cancer Signalling NetworkCC2D1A
Wikipedia pathwaysCC2D1A
Orthology - Evolution
OrthoDB54862
GeneTree (enSembl)ENSG00000132024
Phylogenetic Trees/Animal Genes : TreeFamCC2D1A
HOVERGENQ6P1N0
HOGENOMQ6P1N0
Homologs : HomoloGeneCC2D1A
Homology/Alignments : Family Browser (UCSC)CC2D1A
Gene fusions - Rearrangements
Fusion : MitelmanCC2D1A/RNF207 [19p13.12/1p36.31]  
Fusion: TCGACC2D1A 19p13.12 RNF207 1p36.31 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCC2D1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CC2D1A
dbVarCC2D1A
ClinVarCC2D1A
1000_GenomesCC2D1A 
Exome Variant ServerCC2D1A
ExAC (Exome Aggregation Consortium)CC2D1A (select the gene name)
Genetic variants : HAPMAP54862
Genomic Variants (DGV)CC2D1A [DGVbeta]
DECIPHERCC2D1A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCC2D1A 
Mutations
ICGC Data PortalCC2D1A 
TCGA Data PortalCC2D1A 
Broad Tumor PortalCC2D1A
OASIS PortalCC2D1A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCC2D1A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCC2D1A
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 CC2D1A
DgiDB (Drug Gene Interaction Database)CC2D1A
DoCM (Curated mutations)CC2D1A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CC2D1A (select a term)
intoGenCC2D1A
Cancer3DCC2D1A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608443    610055   
Orphanet11804   
MedgenCC2D1A
Genetic Testing Registry CC2D1A
NextProtQ6P1N0 [Medical]
TSGene54862
GENETestsCC2D1A
Target ValidationCC2D1A
Huge Navigator CC2D1A [HugePedia]
snp3D : Map Gene to Disease54862
BioCentury BCIQCC2D1A
ClinGenCC2D1A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54862
Chemical/Pharm GKB GenePA142672197
Clinical trialCC2D1A
Miscellaneous
canSAR (ICR)CC2D1A (select the gene name)
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCC2D1A
EVEXCC2D1A
GoPubMedCC2D1A
iHOPCC2D1A
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 Aug 1 16:56:55 CEST 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.