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CAMSAP2 (calmodulin regulated spectrin associated protein family member 2)

Identity

Alias_namesCAMSAP1L1
calmodulin regulated spectrin-associated protein 1-like 1
calmodulin regulated spectrin-associated protein family, member 2
Alias_symbol (synonym)KIAA1078
Other alias
HGNC (Hugo) CAMSAP2
LocusID (NCBI) 23271
Atlas_Id 61399
Location 1q32.1  [Link to chromosome band 1q32]
Location_base_pair Starts at 200739558 and ends at 200860707 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)
AMOTL2 (3q22.2) / CAMSAP2 (1q32.1)CAMSAP2 (1q32.1) / ANKRD36 (2q11.2)CAMSAP2 (1q32.1) / BCAR3 (1p22.1)
CAMSAP2 (1q32.1) / CAMSAP2 (1q32.1)CAMSAP2 (1q32.1) / CCNL1 (3q25.31)CAMSAP2 (1q32.1) / MCCC1 (3q27.1)
CHURC1-FNTB (14q23.3) / CAMSAP2 (1q32.1)

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)CAMSAP2   29188
Cards
Entrez_Gene (NCBI)CAMSAP2  23271  calmodulin regulated spectrin associated protein family member 2
AliasesCAMSAP1L1
GeneCards (Weizmann)CAMSAP2
Ensembl hg19 (Hinxton)ENSG00000118200 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000118200 [Gene_View]  chr1:200739558-200860707 [Contig_View]  CAMSAP2 [Vega]
ICGC DataPortalENSG00000118200
TCGA cBioPortalCAMSAP2
AceView (NCBI)CAMSAP2
Genatlas (Paris)CAMSAP2
WikiGenes23271
SOURCE (Princeton)CAMSAP2
Genetics Home Reference (NIH)CAMSAP2
Genomic and cartography
GoldenPath hg38 (UCSC)CAMSAP2  -     chr1:200739558-200860707 +  1q32.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CAMSAP2  -     1q32.1   [Description]    (hg19-Feb_2009)
EnsemblCAMSAP2 - 1q32.1 [CytoView hg19]  CAMSAP2 - 1q32.1 [CytoView hg38]
Mapping of homologs : NCBICAMSAP2 [Mapview hg19]  CAMSAP2 [Mapview hg38]
OMIM613775   
Gene and transcription
Genbank (Entrez)AA625716 AB029001 AF087998 AK026348 AK095640
RefSeq transcript (Entrez)NM_001297707 NM_001297708 NM_203459
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CAMSAP2
Cluster EST : UnigeneHs.23585 [ NCBI ]
CGAP (NCI)Hs.23585
Alternative Splicing GalleryENSG00000118200
Gene ExpressionCAMSAP2 [ NCBI-GEO ]   CAMSAP2 [ EBI - ARRAY_EXPRESS ]   CAMSAP2 [ SEEK ]   CAMSAP2 [ MEM ]
Gene Expression Viewer (FireBrowse)CAMSAP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23271
GTEX Portal (Tissue expression)CAMSAP2
Human Protein AtlasENSG00000118200-CAMSAP2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ08AD1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ08AD1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ08AD1
Splice isoforms : SwissVarQ08AD1
PhosPhoSitePlusQ08AD1
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)CAMSAP2
DMDM Disease mutations23271
Blocks (Seattle)CAMSAP2
SuperfamilyQ08AD1
Human Protein Atlas [tissue]ENSG00000118200-CAMSAP2 [tissue]
Peptide AtlasQ08AD1
HPRD11124
IPIIPI00409607   IPI00640562   IPI00893859   IPI01014817   IPI00514883   IPI00981378   
Protein Interaction databases
DIP (DOE-UCLA)Q08AD1
IntAct (EBI)Q08AD1
FunCoupENSG00000118200
BioGRIDCAMSAP2
STRING (EMBL)CAMSAP2
ZODIACCAMSAP2
Ontologies - Pathways
QuickGOQ08AD1
Ontology : AmiGOmicrotubule cytoskeleton organization  protein binding  calmodulin binding  centrosome  cytosol  spectrin binding  neuron projection development  regulation of organelle organization  microtubule minus-end binding  microtubule end  
Ontology : EGO-EBImicrotubule cytoskeleton organization  protein binding  calmodulin binding  centrosome  cytosol  spectrin binding  neuron projection development  regulation of organelle organization  microtubule minus-end binding  microtubule end  
NDEx NetworkCAMSAP2
Atlas of Cancer Signalling NetworkCAMSAP2
Wikipedia pathwaysCAMSAP2
Orthology - Evolution
OrthoDB23271
GeneTree (enSembl)ENSG00000118200
Phylogenetic Trees/Animal Genes : TreeFamCAMSAP2
HOVERGENQ08AD1
HOGENOMQ08AD1
Homologs : HomoloGeneCAMSAP2
Homology/Alignments : Family Browser (UCSC)CAMSAP2
Gene fusions - Rearrangements
Fusion: Tumor Portal CAMSAP2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCAMSAP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CAMSAP2
dbVarCAMSAP2
ClinVarCAMSAP2
1000_GenomesCAMSAP2 
Exome Variant ServerCAMSAP2
ExAC (Exome Aggregation Consortium)ENSG00000118200
GNOMAD BrowserENSG00000118200
Genetic variants : HAPMAP23271
Genomic Variants (DGV)CAMSAP2 [DGVbeta]
DECIPHERCAMSAP2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCAMSAP2 
Mutations
ICGC Data PortalCAMSAP2 
TCGA Data PortalCAMSAP2 
Broad Tumor PortalCAMSAP2
OASIS PortalCAMSAP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCAMSAP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCAMSAP2
BioMutasearch CAMSAP2
DgiDB (Drug Gene Interaction Database)CAMSAP2
DoCM (Curated mutations)CAMSAP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CAMSAP2 (select a term)
intoGenCAMSAP2
Cancer3DCAMSAP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613775   
Orphanet
MedgenCAMSAP2
Genetic Testing Registry CAMSAP2
NextProtQ08AD1 [Medical]
TSGene23271
GENETestsCAMSAP2
Target ValidationCAMSAP2
Huge Navigator CAMSAP2 [HugePedia]
snp3D : Map Gene to Disease23271
BioCentury BCIQCAMSAP2
ClinGenCAMSAP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23271
Chemical/Pharm GKB GenePA142672206
Clinical trialCAMSAP2
Miscellaneous
canSAR (ICR)CAMSAP2 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCAMSAP2
EVEXCAMSAP2
GoPubMedCAMSAP2
iHOPCAMSAP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 11:41:13 CET 2017

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