Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CAB39 (calcium binding protein 39)

Identity

Alias_symbol (synonym)CGI-66
MO25
Other alias
HGNC (Hugo) CAB39
LocusID (NCBI) 51719
Atlas_Id 47073
Location 2q37.1  [Link to chromosome band 2q37]
Location_base_pair Starts at 230712842 and ends at 230821075 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)
CAB39 (2q37.1) / CAB39 (2q37.1)MSN (Xq12) / CAB39 (2q37.1)PLB1 (2p23.2) / CAB39 (2q37.1)
SAMD12 (8q24.12) / CAB39 (2q37.1)PLB1 2p23.2 / CAB39 2q37.1

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(2;2)(p23;q37) PLB1/CAB39


External links

Nomenclature
HGNC (Hugo)CAB39   20292
Cards
Entrez_Gene (NCBI)CAB39  51719  calcium binding protein 39
AliasesCGI-66; MO25
GeneCards (Weizmann)CAB39
Ensembl hg19 (Hinxton)ENSG00000135932 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135932 [Gene_View]  ENSG00000135932 [Sequence]  chr2:230712842-230821075 [Contig_View]  CAB39 [Vega]
ICGC DataPortalENSG00000135932
TCGA cBioPortalCAB39
AceView (NCBI)CAB39
Genatlas (Paris)CAB39
WikiGenes51719
SOURCE (Princeton)CAB39
Genetics Home Reference (NIH)CAB39
Genomic and cartography
GoldenPath hg38 (UCSC)CAB39  -     chr2:230712842-230821075 +  2q37.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CAB39  -     2q37.1   [Description]    (hg19-Feb_2009)
EnsemblCAB39 - 2q37.1 [CytoView hg19]  CAB39 - 2q37.1 [CytoView hg38]
Mapping of homologs : NCBICAB39 [Mapview hg19]  CAB39 [Mapview hg38]
OMIM612174   
Gene and transcription
Genbank (Entrez)AB073893 AF113536 AF134480 AF151824 AK000804
RefSeq transcript (Entrez)NM_001130849 NM_001130850 NM_016289
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CAB39
Cluster EST : UnigeneHs.603930 [ NCBI ]
CGAP (NCI)Hs.603930
Alternative Splicing GalleryENSG00000135932
Gene ExpressionCAB39 [ NCBI-GEO ]   CAB39 [ EBI - ARRAY_EXPRESS ]   CAB39 [ SEEK ]   CAB39 [ MEM ]
Gene Expression Viewer (FireBrowse)CAB39 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51719
GTEX Portal (Tissue expression)CAB39
Human Protein AtlasENSG00000135932-CAB39 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y376   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y376  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y376
Splice isoforms : SwissVarQ9Y376
PhosPhoSitePlusQ9Y376
Domains : Interpro (EBI)ARM-like    ARM-type_fold    Mo25   
Domain families : Pfam (Sanger)Mo25 (PF08569)   
Domain families : Pfam (NCBI)pfam08569   
Conserved Domain (NCBI)CAB39
DMDM Disease mutations51719
Blocks (Seattle)CAB39
PDB (SRS)1UPK    1UPL    2WTK    3GNI    4FZA    4FZD    4FZF    4NZW    4O27   
PDB (PDBSum)1UPK    1UPL    2WTK    3GNI    4FZA    4FZD    4FZF    4NZW    4O27   
PDB (IMB)1UPK    1UPL    2WTK    3GNI    4FZA    4FZD    4FZF    4NZW    4O27   
PDB (RSDB)1UPK    1UPL    2WTK    3GNI    4FZA    4FZD    4FZF    4NZW    4O27   
Structural Biology KnowledgeBase1UPK    1UPL    2WTK    3GNI    4FZA    4FZD    4FZF    4NZW    4O27   
SCOP (Structural Classification of Proteins)1UPK    1UPL    2WTK    3GNI    4FZA    4FZD    4FZF    4NZW    4O27   
CATH (Classification of proteins structures)1UPK    1UPL    2WTK    3GNI    4FZA    4FZD    4FZF    4NZW    4O27   
SuperfamilyQ9Y376
Human Protein Atlas [tissue]ENSG00000135932-CAB39 [tissue]
Peptide AtlasQ9Y376
HPRD10091
IPIIPI00032561   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y376
IntAct (EBI)Q9Y376
FunCoupENSG00000135932
BioGRIDCAB39
STRING (EMBL)CAB39
ZODIACCAB39
Ontologies - Pathways
QuickGOQ9Y376
Ontology : AmiGOprotein serine/threonine kinase activity  protein serine/threonine kinase activity  protein binding  extracellular region  intracellular  cytosol  cell cycle arrest  positive regulation of peptidyl-threonine phosphorylation  peptidyl-serine phosphorylation  kinase binding  signal transduction by protein phosphorylation  signal transduction by protein phosphorylation  protein kinase activator activity  activation of protein kinase activity  secretory granule lumen  intracellular signal transduction  neutrophil degranulation  protein serine/threonine kinase activator activity  protein heterooligomerization  extracellular exosome  cellular hypotonic response  positive regulation of protein serine/threonine kinase activity  negative regulation of potassium ion transmembrane transporter activity  negative regulation of potassium ion transmembrane transport  serine/threonine protein kinase complex  ficolin-1-rich granule lumen  
Ontology : EGO-EBIprotein serine/threonine kinase activity  protein serine/threonine kinase activity  protein binding  extracellular region  intracellular  cytosol  cell cycle arrest  positive regulation of peptidyl-threonine phosphorylation  peptidyl-serine phosphorylation  kinase binding  signal transduction by protein phosphorylation  signal transduction by protein phosphorylation  protein kinase activator activity  activation of protein kinase activity  secretory granule lumen  intracellular signal transduction  neutrophil degranulation  protein serine/threonine kinase activator activity  protein heterooligomerization  extracellular exosome  cellular hypotonic response  positive regulation of protein serine/threonine kinase activity  negative regulation of potassium ion transmembrane transporter activity  negative regulation of potassium ion transmembrane transport  serine/threonine protein kinase complex  ficolin-1-rich granule lumen  
Pathways : KEGGmTOR signaling pathway   
NDEx NetworkCAB39
Atlas of Cancer Signalling NetworkCAB39
Wikipedia pathwaysCAB39
Orthology - Evolution
OrthoDB51719
GeneTree (enSembl)ENSG00000135932
Phylogenetic Trees/Animal Genes : TreeFamCAB39
HOVERGENQ9Y376
HOGENOMQ9Y376
Homologs : HomoloGeneCAB39
Homology/Alignments : Family Browser (UCSC)CAB39
Gene fusions - Rearrangements
Fusion : MitelmanPLB1/CAB39 [2p23.2/2q37.1]  [t(2;2)(p23;q37)]  
Fusion PortalPLB1 2p23.2 CAB39 2q37.1 PRAD
Fusion : QuiverCAB39
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCAB39 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CAB39
dbVarCAB39
ClinVarCAB39
1000_GenomesCAB39 
Exome Variant ServerCAB39
ExAC (Exome Aggregation Consortium)ENSG00000135932
GNOMAD BrowserENSG00000135932
Varsome BrowserCAB39
Genetic variants : HAPMAP51719
Genomic Variants (DGV)CAB39 [DGVbeta]
DECIPHERCAB39 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCAB39 
Mutations
ICGC Data PortalCAB39 
TCGA Data PortalCAB39 
Broad Tumor PortalCAB39
OASIS PortalCAB39 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCAB39  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCAB39
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CAB39
DgiDB (Drug Gene Interaction Database)CAB39
DoCM (Curated mutations)CAB39 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CAB39 (select a term)
intoGenCAB39
Cancer3DCAB39(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612174   
Orphanet
DisGeNETCAB39
MedgenCAB39
Genetic Testing Registry CAB39
NextProtQ9Y376 [Medical]
TSGene51719
GENETestsCAB39
Target ValidationCAB39
Huge Navigator CAB39 [HugePedia]
snp3D : Map Gene to Disease51719
BioCentury BCIQCAB39
ClinGenCAB39
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51719
Chemical/Pharm GKB GenePA128394663
Clinical trialCAB39
Miscellaneous
canSAR (ICR)CAB39 (select the gene name)
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCAB39
EVEXCAB39
GoPubMedCAB39
iHOPCAB39
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 10:55:15 CET 2018

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