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CAMSAP3 (calmodulin regulated spectrin associated protein family member 3)

Identity

Alias_namesKIAA1543
KIAA1543
calmodulin regulated spectrin-associated protein family, member 3
Alias_symbol (synonym)Nezha
PPP1R80
Other aliasNEZHA
HGNC (Hugo) CAMSAP3
LocusID (NCBI) 57662
Atlas_Id 61400
Location 19p13.2  [Link to chromosome band 19p13]
Location_base_pair Starts at 7595902 and ends at 7618310 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)
CAMSAP3 (19p13.2) / PML (15q24.1)

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)CAMSAP3   29307
Cards
Entrez_Gene (NCBI)CAMSAP3  57662  calmodulin regulated spectrin associated protein family member 3
AliasesKIAA1543; NEZHA; PPP1R80
GeneCards (Weizmann)CAMSAP3
Ensembl hg19 (Hinxton)ENSG00000076826 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000076826 [Gene_View]  chr19:7595902-7618310 [Contig_View]  CAMSAP3 [Vega]
ICGC DataPortalENSG00000076826
TCGA cBioPortalCAMSAP3
AceView (NCBI)CAMSAP3
Genatlas (Paris)CAMSAP3
WikiGenes57662
SOURCE (Princeton)CAMSAP3
Genetics Home Reference (NIH)CAMSAP3
Genomic and cartography
GoldenPath hg38 (UCSC)CAMSAP3  -     chr19:7595902-7618310 +  19p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CAMSAP3  -     19p13.2   [Description]    (hg19-Feb_2009)
EnsemblCAMSAP3 - 19p13.2 [CytoView hg19]  CAMSAP3 - 19p13.2 [CytoView hg38]
Mapping of homologs : NCBICAMSAP3 [Mapview hg19]  CAMSAP3 [Mapview hg38]
OMIM612685   
Gene and transcription
Genbank (Entrez)AB040976 AF289580 AL833927 BC020431 BC035808
RefSeq transcript (Entrez)NM_001080429 NM_020902
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CAMSAP3
Cluster EST : UnigeneHs.17686 [ NCBI ]
CGAP (NCI)Hs.17686
Alternative Splicing GalleryENSG00000076826
Gene ExpressionCAMSAP3 [ NCBI-GEO ]   CAMSAP3 [ EBI - ARRAY_EXPRESS ]   CAMSAP3 [ SEEK ]   CAMSAP3 [ MEM ]
Gene Expression Viewer (FireBrowse)CAMSAP3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57662
GTEX Portal (Tissue expression)CAMSAP3
Human Protein AtlasENSG00000076826-CAMSAP3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P1Y5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P1Y5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P1Y5
Splice isoforms : SwissVarQ9P1Y5
PhosPhoSitePlusQ9P1Y5
Domaine pattern : Prosite (Expaxy)CKK (PS51508)   
Domains : Interpro (EBI)CAMSAP    CAMSAP_CC1    CAMSAP_CH    CH-domain    CKK_domain    PRC_barrel-like   
Domain families : Pfam (Sanger)CAMSAP_CC1 (PF17095)    CAMSAP_CH (PF11971)    CAMSAP_CKK (PF08683)   
Domain families : Pfam (NCBI)pfam17095    pfam11971    pfam08683   
Domain families : Smart (EMBL)CAMSAP_CKK (SM01051)  
Conserved Domain (NCBI)CAMSAP3
DMDM Disease mutations57662
Blocks (Seattle)CAMSAP3
SuperfamilyQ9P1Y5
Human Protein Atlas [tissue]ENSG00000076826-CAMSAP3 [tissue]
Peptide AtlasQ9P1Y5
IPIIPI00176702   IPI00640524   
Protein Interaction databases
DIP (DOE-UCLA)Q9P1Y5
IntAct (EBI)Q9P1Y5
FunCoupENSG00000076826
BioGRIDCAMSAP3
STRING (EMBL)CAMSAP3
ZODIACCAMSAP3
Ontologies - Pathways
QuickGOQ9P1Y5
Ontology : AmiGOmicrotubule cytoskeleton organization  calmodulin binding  cytoplasm  centrosome  microtubule  zonula adherens  negative regulation of phosphatase activity  spectrin binding  neuron projection development  regulation of organelle organization  microtubule anchoring  zonula adherens maintenance  microtubule minus-end binding  regulation of microtubule cytoskeleton organization  epithelial cell-cell adhesion  
Ontology : EGO-EBImicrotubule cytoskeleton organization  calmodulin binding  cytoplasm  centrosome  microtubule  zonula adherens  negative regulation of phosphatase activity  spectrin binding  neuron projection development  regulation of organelle organization  microtubule anchoring  zonula adherens maintenance  microtubule minus-end binding  regulation of microtubule cytoskeleton organization  epithelial cell-cell adhesion  
NDEx NetworkCAMSAP3
Atlas of Cancer Signalling NetworkCAMSAP3
Wikipedia pathwaysCAMSAP3
Orthology - Evolution
OrthoDB57662
GeneTree (enSembl)ENSG00000076826
Phylogenetic Trees/Animal Genes : TreeFamCAMSAP3
HOVERGENQ9P1Y5
HOGENOMQ9P1Y5
Homologs : HomoloGeneCAMSAP3
Homology/Alignments : Family Browser (UCSC)CAMSAP3
Gene fusions - Rearrangements
Tumor Fusion PortalCAMSAP3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCAMSAP3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CAMSAP3
dbVarCAMSAP3
ClinVarCAMSAP3
1000_GenomesCAMSAP3 
Exome Variant ServerCAMSAP3
ExAC (Exome Aggregation Consortium)ENSG00000076826
GNOMAD BrowserENSG00000076826
Genetic variants : HAPMAP57662
Genomic Variants (DGV)CAMSAP3 [DGVbeta]
DECIPHERCAMSAP3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCAMSAP3 
Mutations
ICGC Data PortalCAMSAP3 
TCGA Data PortalCAMSAP3 
Broad Tumor PortalCAMSAP3
OASIS PortalCAMSAP3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCAMSAP3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCAMSAP3
BioMutasearch CAMSAP3
DgiDB (Drug Gene Interaction Database)CAMSAP3
DoCM (Curated mutations)CAMSAP3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CAMSAP3 (select a term)
intoGenCAMSAP3
Cancer3DCAMSAP3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612685   
Orphanet
DisGeNETCAMSAP3
MedgenCAMSAP3
Genetic Testing Registry CAMSAP3
NextProtQ9P1Y5 [Medical]
TSGene57662
GENETestsCAMSAP3
Target ValidationCAMSAP3
Huge Navigator CAMSAP3 [HugePedia]
snp3D : Map Gene to Disease57662
BioCentury BCIQCAMSAP3
ClinGenCAMSAP3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57662
Chemical/Pharm GKB GenePA134885087
Clinical trialCAMSAP3
Miscellaneous
canSAR (ICR)CAMSAP3 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCAMSAP3
EVEXCAMSAP3
GoPubMedCAMSAP3
iHOPCAMSAP3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:38:16 CET 2017

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