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CSMD2 (CUB and Sushi multiple domains 2)

Identity

Alias_symbol (synonym)KIAA1884
Other aliasdJ1007G16.1
dJ1007G16.2
dJ947L8.1
HGNC (Hugo) CSMD2
LocusID (NCBI) 114784
Atlas_Id 62124
Location 1p35.1  [Link to chromosome band 1p35]
Location_base_pair Starts at 33513999 and ends at 34165274 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
COPS2 (15q21.1) / CSMD2 (1p35.1)CSMD2 (1p35.1) / FYB (5p13.1)CSMD2 (1p35.1) / IFI44L (1p31.1)
CSMD2 (1p35.1) / PHC2 (1p35.1)CSMD2 (1p35.1) / TMEM222 (1p36.11)CSMD2 (1p35.1) / USP48 (1p36.12)
PHC2 (1p35.1) / CSMD2 (1p35.1)STMN1 (1p36.11) / CSMD2 (1p35.1)CSMD2 IFI44L
CSMD2 FYB

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)CSMD2   19290
Cards
Entrez_Gene (NCBI)CSMD2  114784  CUB and Sushi multiple domains 2
AliasesdJ1007G16.1; dJ1007G16.2; dJ947L8.1
GeneCards (Weizmann)CSMD2
Ensembl hg19 (Hinxton)ENSG00000121904 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000121904 [Gene_View]  chr1:33513999-34165274 [Contig_View]  CSMD2 [Vega]
ICGC DataPortalENSG00000121904
TCGA cBioPortalCSMD2
AceView (NCBI)CSMD2
Genatlas (Paris)CSMD2
WikiGenes114784
SOURCE (Princeton)CSMD2
Genetics Home Reference (NIH)CSMD2
Genomic and cartography
GoldenPath hg38 (UCSC)CSMD2  -     chr1:33513999-34165274 -  1p35.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CSMD2  -     1p35.1   [Description]    (hg19-Feb_2009)
EnsemblCSMD2 - 1p35.1 [CytoView hg19]  CSMD2 - 1p35.1 [CytoView hg38]
Mapping of homologs : NCBICSMD2 [Mapview hg19]  CSMD2 [Mapview hg38]
OMIM608398   
Gene and transcription
Genbank (Entrez)AB067471 AB212622 AK022620 AK095627 AK122603
RefSeq transcript (Entrez)NM_001281956 NM_052896
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CSMD2
Cluster EST : UnigeneHs.656915 [ NCBI ]
CGAP (NCI)Hs.656915
Alternative Splicing GalleryENSG00000121904
Gene ExpressionCSMD2 [ NCBI-GEO ]   CSMD2 [ EBI - ARRAY_EXPRESS ]   CSMD2 [ SEEK ]   CSMD2 [ MEM ]
Gene Expression Viewer (FireBrowse)CSMD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)114784
GTEX Portal (Tissue expression)CSMD2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z408   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z408  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z408
Splice isoforms : SwissVarQ7Z408
PhosPhoSitePlusQ7Z408
Domaine pattern : Prosite (Expaxy)CUB (PS01180)    SUSHI (PS50923)   
Domains : Interpro (EBI)CUB_dom    Sushi_SCR_CCP_dom   
Domain families : Pfam (Sanger)CUB (PF00431)    Sushi (PF00084)   
Domain families : Pfam (NCBI)pfam00431    pfam00084   
Domain families : Smart (EMBL)CCP (SM00032)  CUB (SM00042)  
Conserved Domain (NCBI)CSMD2
DMDM Disease mutations114784
Blocks (Seattle)CSMD2
SuperfamilyQ7Z408
Human Protein AtlasENSG00000121904
Peptide AtlasQ7Z408
HPRD13094
IPIIPI00289802   IPI00746532   IPI00394771   IPI00394770   IPI00982913   IPI00513679   IPI00747516   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z408
IntAct (EBI)Q7Z408
FunCoupENSG00000121904
BioGRIDCSMD2
STRING (EMBL)CSMD2
ZODIACCSMD2
Ontologies - Pathways
QuickGOQ7Z408
Ontology : AmiGOplasma membrane  integral component of membrane  
Ontology : EGO-EBIplasma membrane  integral component of membrane  
NDEx NetworkCSMD2
Atlas of Cancer Signalling NetworkCSMD2
Wikipedia pathwaysCSMD2
Orthology - Evolution
OrthoDB114784
GeneTree (enSembl)ENSG00000121904
Phylogenetic Trees/Animal Genes : TreeFamCSMD2
HOVERGENQ7Z408
HOGENOMQ7Z408
Homologs : HomoloGeneCSMD2
Homology/Alignments : Family Browser (UCSC)CSMD2
Gene fusions - Rearrangements
Fusion: TCGACSMD2 IFI44L
Fusion: TCGACSMD2 FYB
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCSMD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CSMD2
dbVarCSMD2
ClinVarCSMD2
1000_GenomesCSMD2 
Exome Variant ServerCSMD2
ExAC (Exome Aggregation Consortium)CSMD2 (select the gene name)
Genetic variants : HAPMAP114784
Genomic Variants (DGV)CSMD2 [DGVbeta]
DECIPHERCSMD2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCSMD2 
Mutations
ICGC Data PortalCSMD2 
TCGA Data PortalCSMD2 
Broad Tumor PortalCSMD2
OASIS PortalCSMD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCSMD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCSMD2
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 CSMD2
DgiDB (Drug Gene Interaction Database)CSMD2
DoCM (Curated mutations)CSMD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CSMD2 (select a term)
intoGenCSMD2
Cancer3DCSMD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608398   
Orphanet
MedgenCSMD2
Genetic Testing Registry CSMD2
NextProtQ7Z408 [Medical]
TSGene114784
GENETestsCSMD2
Target ValidationCSMD2
Huge Navigator CSMD2 [HugePedia]
snp3D : Map Gene to Disease114784
BioCentury BCIQCSMD2
ClinGenCSMD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD114784
Chemical/Pharm GKB GenePA134884681
Clinical trialCSMD2
Miscellaneous
canSAR (ICR)CSMD2 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCSMD2
EVEXCSMD2
GoPubMedCSMD2
iHOPCSMD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:44:40 CEST 2017

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