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CC2D1B (coiled-coil and C2 domain containing 1B)

Identity

Alias_symbol (synonym)KIAA1836
Other alias-
HGNC (Hugo) CC2D1B
LocusID (NCBI) 200014
Atlas_Id 61455
Location 1p32.3  [Link to chromosome band 1p32]
Location_base_pair Starts at 52350593 and ends at 52366205 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CC2D1B (1p32.3) / CC2D1B (1p32.3)CC2D1B (1p32.3) / ZC3H8 (2q13)

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)CC2D1B   29386
Cards
Entrez_Gene (NCBI)CC2D1B  200014  coiled-coil and C2 domain containing 1B
Aliases
GeneCards (Weizmann)CC2D1B
Ensembl hg19 (Hinxton)ENSG00000154222 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000154222 [Gene_View]  chr1:52350593-52366205 [Contig_View]  CC2D1B [Vega]
ICGC DataPortalENSG00000154222
TCGA cBioPortalCC2D1B
AceView (NCBI)CC2D1B
Genatlas (Paris)CC2D1B
WikiGenes200014
SOURCE (Princeton)CC2D1B
Genetics Home Reference (NIH)CC2D1B
Genomic and cartography
GoldenPath hg38 (UCSC)CC2D1B  -     chr1:52350593-52366205 -  1p32.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CC2D1B  -     1p32.3   [Description]    (hg19-Feb_2009)
EnsemblCC2D1B - 1p32.3 [CytoView hg19]  CC2D1B - 1p32.3 [CytoView hg38]
Mapping of homologs : NCBICC2D1B [Mapview hg19]  CC2D1B [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB058739 AK093605 AK095487 AK130874 BC007912
RefSeq transcript (Entrez)NM_001330585 NM_032449
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CC2D1B
Cluster EST : UnigeneHs.591451 [ NCBI ]
CGAP (NCI)Hs.591451
Alternative Splicing GalleryENSG00000154222
Gene ExpressionCC2D1B [ NCBI-GEO ]   CC2D1B [ EBI - ARRAY_EXPRESS ]   CC2D1B [ SEEK ]   CC2D1B [ MEM ]
Gene Expression Viewer (FireBrowse)CC2D1B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)200014
GTEX Portal (Tissue expression)CC2D1B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5T0F9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5T0F9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5T0F9
Splice isoforms : SwissVarQ5T0F9
PhosPhoSitePlusQ5T0F9
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)CC2D1B
DMDM Disease mutations200014
Blocks (Seattle)CC2D1B
SuperfamilyQ5T0F9
Human Protein AtlasENSG00000154222
Peptide AtlasQ5T0F9
HPRD12393
IPIIPI00644671   IPI00641630   IPI00306483   IPI00847574   IPI00847796   IPI00646418   
Protein Interaction databases
DIP (DOE-UCLA)Q5T0F9
IntAct (EBI)Q5T0F9
FunCoupENSG00000154222
BioGRIDCC2D1B
STRING (EMBL)CC2D1B
ZODIACCC2D1B
Ontologies - Pathways
QuickGOQ5T0F9
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  protein binding  nucleus  nucleoplasm  transcription, DNA-templated  intracellular membrane-bounded organelle  
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  protein binding  nucleus  nucleoplasm  transcription, DNA-templated  intracellular membrane-bounded organelle  
NDEx NetworkCC2D1B
Atlas of Cancer Signalling NetworkCC2D1B
Wikipedia pathwaysCC2D1B
Orthology - Evolution
OrthoDB200014
GeneTree (enSembl)ENSG00000154222
Phylogenetic Trees/Animal Genes : TreeFamCC2D1B
HOVERGENQ5T0F9
HOGENOMQ5T0F9
Homologs : HomoloGeneCC2D1B
Homology/Alignments : Family Browser (UCSC)CC2D1B
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCC2D1B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CC2D1B
dbVarCC2D1B
ClinVarCC2D1B
1000_GenomesCC2D1B 
Exome Variant ServerCC2D1B
ExAC (Exome Aggregation Consortium)CC2D1B (select the gene name)
Genetic variants : HAPMAP200014
Genomic Variants (DGV)CC2D1B [DGVbeta]
DECIPHERCC2D1B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCC2D1B 
Mutations
ICGC Data PortalCC2D1B 
TCGA Data PortalCC2D1B 
Broad Tumor PortalCC2D1B
OASIS PortalCC2D1B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCC2D1B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCC2D1B
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 CC2D1B
DgiDB (Drug Gene Interaction Database)CC2D1B
DoCM (Curated mutations)CC2D1B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CC2D1B (select a term)
intoGenCC2D1B
Cancer3DCC2D1B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenCC2D1B
Genetic Testing Registry CC2D1B
NextProtQ5T0F9 [Medical]
TSGene200014
GENETestsCC2D1B
Target ValidationCC2D1B
Huge Navigator CC2D1B [HugePedia]
snp3D : Map Gene to Disease200014
BioCentury BCIQCC2D1B
ClinGenCC2D1B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD200014
Chemical/Pharm GKB GenePA142672198
Clinical trialCC2D1B
Miscellaneous
canSAR (ICR)CC2D1B (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCC2D1B
EVEXCC2D1B
GoPubMedCC2D1B
iHOPCC2D1B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:42:16 CEST 2017

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