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C2CD5 (C2 calcium dependent domain containing 5)

Identity

Alias_namesKIAA0528
KIAA0528
Alias_symbol (synonym)CDP138
Other alias
HGNC (Hugo) C2CD5
LocusID (NCBI) 9847
Atlas_Id 56216
Location 12p12.1  [Link to chromosome band 12p12]
Location_base_pair Starts at 22448546 and ends at 22544546 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
C2CD5 (12p12.1) / ITPR2 (12p12.1)C2CD5 (12p12.1) / PKP2 (12p11.21)C2CD5 (12p12.1) / PLCZ1 (12p12.3)
TEAD4 (12p13.33) / C2CD5 (12p12.1)TRAPPC9 (8q24.3) / C2CD5 (12p12.1)

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

 


External links

Nomenclature
HGNC (Hugo)C2CD5   29062
Cards
Entrez_Gene (NCBI)C2CD5  9847  C2 calcium dependent domain containing 5
AliasesCDP138; KIAA0528
GeneCards (Weizmann)C2CD5
Ensembl hg19 (Hinxton)ENSG00000111731 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111731 [Gene_View]  chr12:22448546-22544546 [Contig_View]  C2CD5 [Vega]
ICGC DataPortalENSG00000111731
TCGA cBioPortalC2CD5
AceView (NCBI)C2CD5
Genatlas (Paris)C2CD5
WikiGenes9847
SOURCE (Princeton)C2CD5
Genetics Home Reference (NIH)C2CD5
Genomic and cartography
GoldenPath hg38 (UCSC)C2CD5  -     chr12:22448546-22544546 -  12p12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C2CD5  -     12p12.1   [Description]    (hg19-Feb_2009)
EnsemblC2CD5 - 12p12.1 [CytoView hg19]  C2CD5 - 12p12.1 [CytoView hg38]
Mapping of homologs : NCBIC2CD5 [Mapview hg19]  C2CD5 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB011100 AK295862 AK299353 AK310753 AW590675
RefSeq transcript (Entrez)NM_001286173 NM_001286174 NM_001286175 NM_001286176 NM_001286177 NM_014802
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C2CD5
Cluster EST : UnigeneHs.271014 [ NCBI ]
CGAP (NCI)Hs.271014
Alternative Splicing GalleryENSG00000111731
Gene ExpressionC2CD5 [ NCBI-GEO ]   C2CD5 [ EBI - ARRAY_EXPRESS ]   C2CD5 [ SEEK ]   C2CD5 [ MEM ]
Gene Expression Viewer (FireBrowse)C2CD5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9847
GTEX Portal (Tissue expression)C2CD5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86YS7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86YS7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86YS7
Splice isoforms : SwissVarQ86YS7
PhosPhoSitePlusQ86YS7
Domaine pattern : Prosite (Expaxy)C2 (PS50004)   
Domains : Interpro (EBI)C2_dom   
Domain families : Pfam (Sanger)C2 (PF00168)   
Domain families : Pfam (NCBI)pfam00168   
Domain families : Smart (EMBL)C2 (SM00239)  
Conserved Domain (NCBI)C2CD5
DMDM Disease mutations9847
Blocks (Seattle)C2CD5
SuperfamilyQ86YS7
Human Protein AtlasENSG00000111731
Peptide AtlasQ86YS7
HPRD11087
IPIIPI00465142   IPI00783895   IPI00940865   IPI01012896   IPI01012542   IPI01011222   IPI01011700   IPI01010393   IPI01010868   
Protein Interaction databases
DIP (DOE-UCLA)Q86YS7
IntAct (EBI)Q86YS7
FunCoupENSG00000111731
BioGRIDC2CD5
STRING (EMBL)C2CD5
ZODIACC2CD5
Ontologies - Pathways
QuickGOQ86YS7
Ontology : AmiGOcalcium ion binding  calcium-dependent phospholipid binding  microtubule organizing center  cytosol  plasma membrane  cell cortex  vesicle fusion  positive regulation of glucose transport  cytoplasmic vesicle membrane  positive regulation of vesicle fusion  ruffle membrane  cellular response to insulin stimulus  insulin receptor signaling pathway via phosphatidylinositol 3-kinase  intracellular protein transmembrane transport  protein localization to plasma membrane  positive regulation of protein targeting to membrane  positive regulation of glucose import in response to insulin stimulus  
Ontology : EGO-EBIcalcium ion binding  calcium-dependent phospholipid binding  microtubule organizing center  cytosol  plasma membrane  cell cortex  vesicle fusion  positive regulation of glucose transport  cytoplasmic vesicle membrane  positive regulation of vesicle fusion  ruffle membrane  cellular response to insulin stimulus  insulin receptor signaling pathway via phosphatidylinositol 3-kinase  intracellular protein transmembrane transport  protein localization to plasma membrane  positive regulation of protein targeting to membrane  positive regulation of glucose import in response to insulin stimulus  
NDEx NetworkC2CD5
Atlas of Cancer Signalling NetworkC2CD5
Wikipedia pathwaysC2CD5
Orthology - Evolution
OrthoDB9847
GeneTree (enSembl)ENSG00000111731
Phylogenetic Trees/Animal Genes : TreeFamC2CD5
HOVERGENQ86YS7
HOGENOMQ86YS7
Homologs : HomoloGeneC2CD5
Homology/Alignments : Family Browser (UCSC)C2CD5
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC2CD5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C2CD5
dbVarC2CD5
ClinVarC2CD5
1000_GenomesC2CD5 
Exome Variant ServerC2CD5
ExAC (Exome Aggregation Consortium)C2CD5 (select the gene name)
Genetic variants : HAPMAP9847
Genomic Variants (DGV)C2CD5 [DGVbeta]
DECIPHERC2CD5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC2CD5 
Mutations
ICGC Data PortalC2CD5 
TCGA Data PortalC2CD5 
Broad Tumor PortalC2CD5
OASIS PortalC2CD5 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDC2CD5
BioMutasearch C2CD5
DgiDB (Drug Gene Interaction Database)C2CD5
DoCM (Curated mutations)C2CD5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C2CD5 (select a term)
intoGenC2CD5
Cancer3DC2CD5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenC2CD5
Genetic Testing Registry C2CD5
NextProtQ86YS7 [Medical]
TSGene9847
GENETestsC2CD5
Target ValidationC2CD5
Huge Navigator C2CD5 [HugePedia]
snp3D : Map Gene to Disease9847
BioCentury BCIQC2CD5
ClinGenC2CD5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9847
Chemical/Pharm GKB GenePA143485515
Clinical trialC2CD5
Miscellaneous
canSAR (ICR)C2CD5 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC2CD5
EVEXC2CD5
GoPubMedC2CD5
iHOPC2CD5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 18:59:58 CEST 2017

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