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CABP2 (calcium binding protein 2)

Identity

Other aliasDFNB93
HGNC (Hugo) CABP2
LocusID (NCBI) 51475
Atlas_Id 61348
Location 11q13.2  [Link to chromosome band 11q13]
Location_base_pair Starts at 67518947 and ends at 67523428 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PITPNM1 (11q13.2) / CABP2 (11q13.2)

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)CABP2   1385
Cards
Entrez_Gene (NCBI)CABP2  51475  calcium binding protein 2
AliasesDFNB93
GeneCards (Weizmann)CABP2
Ensembl hg19 (Hinxton)ENSG00000167791 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167791 [Gene_View]  chr11:67518947-67523428 [Contig_View]  CABP2 [Vega]
ICGC DataPortalENSG00000167791
TCGA cBioPortalCABP2
AceView (NCBI)CABP2
Genatlas (Paris)CABP2
WikiGenes51475
SOURCE (Princeton)CABP2
Genetics Home Reference (NIH)CABP2
Genomic and cartography
GoldenPath hg38 (UCSC)CABP2  -     chr11:67518947-67523428 -  11q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CABP2  -     11q13.2   [Description]    (hg19-Feb_2009)
EnsemblCABP2 - 11q13.2 [CytoView hg19]  CABP2 - 11q13.2 [CytoView hg38]
Mapping of homologs : NCBICABP2 [Mapview hg19]  CABP2 [Mapview hg38]
OMIM607314   614899   
Gene and transcription
Genbank (Entrez)AB593136 AF169154 BC018476 BC152746
RefSeq transcript (Entrez)NM_001318496 NM_016366 NM_031204
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CABP2
Cluster EST : UnigeneHs.278984 [ NCBI ]
CGAP (NCI)Hs.278984
Alternative Splicing GalleryENSG00000167791
Gene ExpressionCABP2 [ NCBI-GEO ]   CABP2 [ EBI - ARRAY_EXPRESS ]   CABP2 [ SEEK ]   CABP2 [ MEM ]
Gene Expression Viewer (FireBrowse)CABP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51475
GTEX Portal (Tissue expression)CABP2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NPB3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NPB3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NPB3
Splice isoforms : SwissVarQ9NPB3
PhosPhoSitePlusQ9NPB3
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)Ca-bd_2    EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom   
Domain families : Pfam (Sanger)EF-hand_1 (PF00036)    EF-hand_7 (PF13499)   
Domain families : Pfam (NCBI)pfam00036    pfam13499   
Domain families : Smart (EMBL)EFh (SM00054)  
Conserved Domain (NCBI)CABP2
DMDM Disease mutations51475
Blocks (Seattle)CABP2
SuperfamilyQ9NPB3
Human Protein AtlasENSG00000167791
Peptide AtlasQ9NPB3
HPRD09535
IPIIPI00220015   IPI00009916   IPI01015327   
Protein Interaction databases
DIP (DOE-UCLA)Q9NPB3
IntAct (EBI)Q9NPB3
FunCoupENSG00000167791
BioGRIDCABP2
STRING (EMBL)CABP2
ZODIACCABP2
Ontologies - Pathways
QuickGOQ9NPB3
Ontology : AmiGOcalcium ion binding  Golgi apparatus  plasma membrane  signal transduction  perinuclear region of cytoplasm  
Ontology : EGO-EBIcalcium ion binding  Golgi apparatus  plasma membrane  signal transduction  perinuclear region of cytoplasm  
NDEx NetworkCABP2
Atlas of Cancer Signalling NetworkCABP2
Wikipedia pathwaysCABP2
Orthology - Evolution
OrthoDB51475
GeneTree (enSembl)ENSG00000167791
Phylogenetic Trees/Animal Genes : TreeFamCABP2
HOVERGENQ9NPB3
HOGENOMQ9NPB3
Homologs : HomoloGeneCABP2
Homology/Alignments : Family Browser (UCSC)CABP2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCABP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CABP2
dbVarCABP2
ClinVarCABP2
1000_GenomesCABP2 
Exome Variant ServerCABP2
ExAC (Exome Aggregation Consortium)CABP2 (select the gene name)
Genetic variants : HAPMAP51475
Genomic Variants (DGV)CABP2 [DGVbeta]
DECIPHERCABP2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCABP2 
Mutations
ICGC Data PortalCABP2 
TCGA Data PortalCABP2 
Broad Tumor PortalCABP2
OASIS PortalCABP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCABP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCABP2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CABP2
DgiDB (Drug Gene Interaction Database)CABP2
DoCM (Curated mutations)CABP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CABP2 (select a term)
intoGenCABP2
Cancer3DCABP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607314    614899   
Orphanet12047   
MedgenCABP2
Genetic Testing Registry CABP2
NextProtQ9NPB3 [Medical]
TSGene51475
GENETestsCABP2
Huge Navigator CABP2 [HugePedia]
snp3D : Map Gene to Disease51475
BioCentury BCIQCABP2
ClinGenCABP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51475
Chemical/Pharm GKB GenePA26001
Clinical trialCABP2
Miscellaneous
canSAR (ICR)CABP2 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCABP2
EVEXCABP2
GoPubMedCABP2
iHOPCABP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 11:04:07 CEST 2017

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