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CABP2 (calcium binding protein 2)

Identity

Alias (NCBI)DFNB93
HGNC (Hugo) CABP2
LocusID (NCBI) 51475
Atlas_Id 61348
Location 11q13.2  [Link to chromosome band 11q13]
Location_base_pair Starts at 67518912 and ends at 67523446 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)
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    calcium binding protein 2
AliasesDFNB93
GeneCards (Weizmann)CABP2
Ensembl hg19 (Hinxton)ENSG00000167791 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167791 [Gene_View]  ENSG00000167791 [Sequence]  chr11:67518912-67523446 [Contig_View]  CABP2 [Vega]
ICGC DataPortalENSG00000167791
TCGA cBioPortalCABP2
AceView (NCBI)CABP2
Genatlas (Paris)CABP2
SOURCE (Princeton)CABP2
Genetics Home Reference (NIH)CABP2
Genomic and cartography
GoldenPath hg38 (UCSC)CABP2  -     chr11:67518912-67523446 -  11q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CABP2  -     11q13.2   [Description]    (hg19-Feb_2009)
GoldenPathCABP2 - 11q13.2 [CytoView hg19]  CABP2 - 11q13.2 [CytoView hg38]
ImmunoBaseENSG00000167791
Genome Data Viewer NCBICABP2 [Mapview hg19]  
OMIM607314   614899   
Gene and transcription
Genbank (Entrez)AB593136 AF169154 BC018476
RefSeq transcript (Entrez)NM_001318496 NM_016366 NM_031204
Consensus coding sequences : CCDS (NCBI)CABP2
Gene ExpressionCABP2 [ NCBI-GEO ]   CABP2 [ EBI - ARRAY_EXPRESS ]   CABP2 [ SEEK ]   CABP2 [ MEM ]
Gene Expression Viewer (FireBrowse)CABP2 [ Firebrowse - Broad ]
GenevisibleExpression of CABP2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51475
GTEX Portal (Tissue expression)CABP2
Human Protein AtlasENSG00000167791-CABP2 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9NPB3
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)Ca-bd_2    CaBP1/2/4/5    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
SuperfamilyQ9NPB3
AlphaFold pdb e-kbQ9NPB3   
Human Protein Atlas [tissue]ENSG00000167791-CABP2 [tissue]
HPRD09535
Protein Interaction databases
DIP (DOE-UCLA)Q9NPB3
IntAct (EBI)Q9NPB3
BioGRIDCABP2
STRING (EMBL)CABP2
ZODIACCABP2
Ontologies - Pathways
QuickGOQ9NPB3
Ontology : AmiGOcalcium channel regulator activity  calcium ion binding  protein binding  Golgi apparatus  plasma membrane  signal transduction  visual perception  sensory perception of sound  perinuclear region of cytoplasm  
Ontology : EGO-EBIcalcium channel regulator activity  calcium ion binding  protein binding  Golgi apparatus  plasma membrane  signal transduction  visual perception  sensory perception of sound  perinuclear region of cytoplasm  
NDEx NetworkCABP2
Atlas of Cancer Signalling NetworkCABP2
Wikipedia pathwaysCABP2
Orthology - Evolution
OrthoDB51475
GeneTree (enSembl)ENSG00000167791
Phylogenetic Trees/Animal Genes : TreeFamCABP2
Homologs : HomoloGeneCABP2
Homology/Alignments : Family Browser (UCSC)CABP2
Gene fusions - Rearrangements
Fusion : QuiverCABP2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCABP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CABP2
dbVarCABP2
ClinVarCABP2
MonarchCABP2
1000_GenomesCABP2 
Exome Variant ServerCABP2
GNOMAD BrowserENSG00000167791
Varsome BrowserCABP2
ACMGCABP2 variants
VarityQ9NPB3
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]  
Somatic Mutations in Cancer : COSMIC3DCABP2
Mutations and Diseases : HGMDCABP2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCABP2
DgiDB (Drug Gene Interaction Database)CABP2
DoCM (Curated mutations)CABP2
CIViC (Clinical Interpretations of Variants in Cancer)CABP2
Cancer3DCABP2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607314    614899   
Orphanet12047   
DisGeNETCABP2
MedgenCABP2
Genetic Testing Registry CABP2
NextProtQ9NPB3 [Medical]
GENETestsCABP2
Target ValidationCABP2
Huge Navigator CABP2 [HugePedia]
ClinGenCABP2
Clinical trials, drugs, therapy
MyCancerGenomeCABP2
Protein Interactions : CTDCABP2
Pharm GKB GenePA26001
PharosQ9NPB3
Clinical trialCABP2
Miscellaneous
canSAR (ICR)CABP2
HarmonizomeCABP2
DataMed IndexCABP2
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCABP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:44:37 CEST 2021

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