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CSN2 (casein beta)

Identity

Alias_namesCASB
Other alias
HGNC (Hugo) CSN2
LocusID (NCBI) 1447
Atlas_Id 62129
Location 4q13.3  [Link to chromosome band 4q13]
Location_base_pair Starts at 70820974 and ends at 70826729 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SULT1B1 (4q13.3) / CSN2 (4q13.3)

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)CSN2   2447
Cards
Entrez_Gene (NCBI)CSN2  1447  casein beta
AliasesCASB
GeneCards (Weizmann)CSN2
Ensembl hg19 (Hinxton)ENSG00000135222 [Gene_View]  chr4:70820974-70826729 [Contig_View]  CSN2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000135222 [Gene_View]  chr4:70820974-70826729 [Contig_View]  CSN2 [Vega]
ICGC DataPortalENSG00000135222
TCGA cBioPortalCSN2
AceView (NCBI)CSN2
Genatlas (Paris)CSN2
WikiGenes1447
SOURCE (Princeton)CSN2
Genetics Home Reference (NIH)CSN2
Genomic and cartography
GoldenPath hg19 (UCSC)CSN2  -     chr4:70820974-70826729 -  4q13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CSN2  -     4q13.3   [Description]    (hg38-Dec_2013)
EnsemblCSN2 - 4q13.3 [CytoView hg19]  CSN2 - 4q13.3 [CytoView hg38]
Mapping of homologs : NCBICSN2 [Mapview hg19]  CSN2 [Mapview hg38]
OMIM115460   
Gene and transcription
Genbank (Entrez)A30262 BC069554 BC096194 BC096195 BC096196
RefSeq transcript (Entrez)NM_001302770 NM_001891
RefSeq genomic (Entrez)NC_000004 NC_018915 NT_016354 NW_004929320
Consensus coding sequences : CCDS (NCBI)CSN2
Cluster EST : UnigeneHs.2242 [ NCBI ]
CGAP (NCI)Hs.2242
Alternative Splicing GalleryENSG00000135222
Gene ExpressionCSN2 [ NCBI-GEO ]   CSN2 [ EBI - ARRAY_EXPRESS ]   CSN2 [ SEEK ]   CSN2 [ MEM ]
Gene Expression Viewer (FireBrowse)CSN2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1447
GTEX Portal (Tissue expression)CSN2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP05814   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP05814  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP05814
Splice isoforms : SwissVarP05814
PhosPhoSitePlusP05814
Domaine pattern : Prosite (Expaxy)CASEIN_ALPHA_BETA (PS00306)   
Domains : Interpro (EBI)Casein    Casein_beta   
Domain families : Pfam (Sanger)Casein (PF00363)   
Domain families : Pfam (NCBI)pfam00363   
Conserved Domain (NCBI)CSN2
DMDM Disease mutations1447
Blocks (Seattle)CSN2
SuperfamilyP05814
Human Protein AtlasENSG00000135222
Peptide AtlasP05814
HPRD00281
IPIIPI00010849   
Protein Interaction databases
DIP (DOE-UCLA)P05814
IntAct (EBI)P05814
FunCoupENSG00000135222
BioGRIDCSN2
STRING (EMBL)CSN2
ZODIACCSN2
Ontologies - Pathways
QuickGOP05814
Ontology : AmiGOenzyme inhibitor activity  transporter activity  calcium ion binding  extracellular region  extracellular space  calcium ion transport  lactation  negative regulation of catalytic activity  negative regulation of lactation  
Ontology : EGO-EBIenzyme inhibitor activity  transporter activity  calcium ion binding  extracellular region  extracellular space  calcium ion transport  lactation  negative regulation of catalytic activity  negative regulation of lactation  
Pathways : KEGGProlactin signaling pathway   
NDEx NetworkCSN2
Atlas of Cancer Signalling NetworkCSN2
Wikipedia pathwaysCSN2
Orthology - Evolution
OrthoDB1447
GeneTree (enSembl)ENSG00000135222
Phylogenetic Trees/Animal Genes : TreeFamCSN2
HOVERGENP05814
HOGENOMP05814
Homologs : HomoloGeneCSN2
Homology/Alignments : Family Browser (UCSC)CSN2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCSN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CSN2
dbVarCSN2
ClinVarCSN2
1000_GenomesCSN2 
Exome Variant ServerCSN2
ExAC (Exome Aggregation Consortium)CSN2 (select the gene name)
Genetic variants : HAPMAP1447
Genomic Variants (DGV)CSN2 [DGVbeta]
DECIPHER (Syndromes)4:70820974-70826729  ENSG00000135222
CONAN: Copy Number AnalysisCSN2 
Mutations
ICGC Data PortalCSN2 
TCGA Data PortalCSN2 
Broad Tumor PortalCSN2
OASIS PortalCSN2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCSN2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCSN2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CSN2
DgiDB (Drug Gene Interaction Database)CSN2
DoCM (Curated mutations)CSN2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CSN2 (select a term)
intoGenCSN2
Cancer3DCSN2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM115460   
Orphanet
MedgenCSN2
Genetic Testing Registry CSN2
NextProtP05814 [Medical]
TSGene1447
GENETestsCSN2
Huge Navigator CSN2 [HugePedia]
snp3D : Map Gene to Disease1447
BioCentury BCIQCSN2
ClinGenCSN2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1447
Chemical/Pharm GKB GenePA26950
Clinical trialCSN2
Miscellaneous
canSAR (ICR)CSN2 (select the gene name)
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCSN2
EVEXCSN2
GoPubMedCSN2
iHOPCSN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:00:28 CET 2017

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