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CC2D2A (coiled-coil and C2 domain containing 2A)

Identity

Alias_symbol (synonym)KIAA1345
MKS6
JBTS9
Other alias
HGNC (Hugo) CC2D2A
LocusID (NCBI) 57545
Atlas_Id 61456
Location 4p15.32  [Link to chromosome band 4p15]
Location_base_pair Starts at 15471489 and ends at 15603180 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CC2D2A (4p15.32) / FANCF (11p14.3)CPEB2 (4p15.33) / CC2D2A (4p15.32)MTR (1q43) / CC2D2A (4p15.32)
ROCK2 (2p25.1) / CC2D2A (4p15.32)RYR2 (1q43) / CC2D2A (4p15.32)

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)CC2D2A   29253
LRG (Locus Reference Genomic)LRG_697
Cards
Entrez_Gene (NCBI)CC2D2A  57545  coiled-coil and C2 domain containing 2A
AliasesJBTS9; MKS6
GeneCards (Weizmann)CC2D2A
Ensembl hg19 (Hinxton)ENSG00000048342 [Gene_View]  chr4:15471489-15603180 [Contig_View]  CC2D2A [Vega]
Ensembl hg38 (Hinxton)ENSG00000048342 [Gene_View]  chr4:15471489-15603180 [Contig_View]  CC2D2A [Vega]
ICGC DataPortalENSG00000048342
TCGA cBioPortalCC2D2A
AceView (NCBI)CC2D2A
Genatlas (Paris)CC2D2A
WikiGenes57545
SOURCE (Princeton)CC2D2A
Genetics Home Reference (NIH)CC2D2A
Genomic and cartography
GoldenPath hg19 (UCSC)CC2D2A  -     chr4:15471489-15603180 +  4p15.32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CC2D2A  -     4p15.32   [Description]    (hg38-Dec_2013)
EnsemblCC2D2A - 4p15.32 [CytoView hg19]  CC2D2A - 4p15.32 [CytoView hg38]
Mapping of homologs : NCBICC2D2A [Mapview hg19]  CC2D2A [Mapview hg38]
OMIM216360   612013   612284   612285   
Gene and transcription
Genbank (Entrez)AA441801 AB037766 AB384183 AI376394 AK023876
RefSeq transcript (Entrez)NM_001080522 NM_001164720 NM_020785
RefSeq genomic (Entrez)NC_000004 NC_018915 NG_013035 NT_006316 NW_004929315
Consensus coding sequences : CCDS (NCBI)CC2D2A
Cluster EST : UnigeneHs.590928 [ NCBI ]
CGAP (NCI)Hs.590928
Alternative Splicing GalleryENSG00000048342
Gene ExpressionCC2D2A [ NCBI-GEO ]   CC2D2A [ EBI - ARRAY_EXPRESS ]   CC2D2A [ SEEK ]   CC2D2A [ MEM ]
Gene Expression Viewer (FireBrowse)CC2D2A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57545
GTEX Portal (Tissue expression)CC2D2A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P2K1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P2K1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P2K1
Splice isoforms : SwissVarQ9P2K1
PhosPhoSitePlusQ9P2K1
Domains : Interpro (EBI)C2_dom    CC2D2AN-C2   
Domain families : Pfam (Sanger)CC2D2AN-C2 (PF15625)   
Domain families : Pfam (NCBI)pfam15625   
Domain families : Smart (EMBL)C2 (SM00239)  
Conserved Domain (NCBI)CC2D2A
DMDM Disease mutations57545
Blocks (Seattle)CC2D2A
SuperfamilyQ9P2K1
Human Protein AtlasENSG00000048342
Peptide AtlasQ9P2K1
IPIIPI00885039   IPI00929463   IPI00783123   IPI00966654   IPI00791980   IPI00964192   
Protein Interaction databases
DIP (DOE-UCLA)Q9P2K1
IntAct (EBI)Q9P2K1
FunCoupENSG00000048342
BioGRIDCC2D2A
STRING (EMBL)CC2D2A
ZODIACCC2D2A
Ontologies - Pathways
QuickGOQ9P2K1
Ontology : AmiGOcytosol  cytoskeleton  organelle organization  smoothened signaling pathway  ciliary transition zone  TCTN-B9D complex  cilium assembly  cilium morphogenesis  
Ontology : EGO-EBIcytosol  cytoskeleton  organelle organization  smoothened signaling pathway  ciliary transition zone  TCTN-B9D complex  cilium assembly  cilium morphogenesis  
NDEx NetworkCC2D2A
Atlas of Cancer Signalling NetworkCC2D2A
Wikipedia pathwaysCC2D2A
Orthology - Evolution
OrthoDB57545
GeneTree (enSembl)ENSG00000048342
Phylogenetic Trees/Animal Genes : TreeFamCC2D2A
HOVERGENQ9P2K1
HOGENOMQ9P2K1
Homologs : HomoloGeneCC2D2A
Homology/Alignments : Family Browser (UCSC)CC2D2A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCC2D2A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CC2D2A
dbVarCC2D2A
ClinVarCC2D2A
1000_GenomesCC2D2A 
Exome Variant ServerCC2D2A
ExAC (Exome Aggregation Consortium)CC2D2A (select the gene name)
Genetic variants : HAPMAP57545
Genomic Variants (DGV)CC2D2A [DGVbeta]
DECIPHER (Syndromes)4:15471489-15603180  ENSG00000048342
CONAN: Copy Number AnalysisCC2D2A 
Mutations
ICGC Data PortalCC2D2A 
TCGA Data PortalCC2D2A 
Broad Tumor PortalCC2D2A
OASIS PortalCC2D2A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCC2D2A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCC2D2A
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
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch CC2D2A
DgiDB (Drug Gene Interaction Database)CC2D2A
DoCM (Curated mutations)CC2D2A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CC2D2A (select a term)
intoGenCC2D2A
Cancer3DCC2D2A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM216360    612013    612284    612285   
Orphanet280    519    1644   
MedgenCC2D2A
Genetic Testing Registry CC2D2A
NextProtQ9P2K1 [Medical]
TSGene57545
GENETestsCC2D2A
Huge Navigator CC2D2A [HugePedia]
snp3D : Map Gene to Disease57545
BioCentury BCIQCC2D2A
ClinGenCC2D2A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57545
Chemical/Pharm GKB GenePA162381194
Clinical trialCC2D2A
Miscellaneous
canSAR (ICR)CC2D2A (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCC2D2A
EVEXCC2D2A
GoPubMedCC2D2A
iHOPCC2D2A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 11:58:16 CET 2017

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