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CASKIN2 (CASK interacting protein 2)

Identity

Alias_symbol (synonym)KIAA1139
FLJ21609
ANKS5B
Other alias
HGNC (Hugo) CASKIN2
LocusID (NCBI) 57513
Atlas_Id 61427
Location 17q25.1  [Link to chromosome band 17q25]
Location_base_pair Starts at 75500260 and ends at 75509888 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CASKIN2 (17q25.1) / QRICH2 (17q25.1)

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

 


External links

Nomenclature
HGNC (Hugo)CASKIN2   18200
Cards
Entrez_Gene (NCBI)CASKIN2  57513  CASK interacting protein 2
AliasesANKS5B
GeneCards (Weizmann)CASKIN2
Ensembl hg19 (Hinxton)ENSG00000177303 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000177303 [Gene_View]  chr17:75500260-75509888 [Contig_View]  CASKIN2 [Vega]
ICGC DataPortalENSG00000177303
TCGA cBioPortalCASKIN2
AceView (NCBI)CASKIN2
Genatlas (Paris)CASKIN2
WikiGenes57513
SOURCE (Princeton)CASKIN2
Genetics Home Reference (NIH)CASKIN2
Genomic and cartography
GoldenPath hg38 (UCSC)CASKIN2  -     chr17:75500260-75509888 -  17q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CASKIN2  -     17q25.1   [Description]    (hg19-Feb_2009)
EnsemblCASKIN2 - 17q25.1 [CytoView hg19]  CASKIN2 - 17q25.1 [CytoView hg38]
Mapping of homologs : NCBICASKIN2 [Mapview hg19]  CASKIN2 [Mapview hg38]
OMIM612185   
Gene and transcription
Genbank (Entrez)AB032965 AF451976 AK025262 AK300354 AK315936
RefSeq transcript (Entrez)NM_001142643 NM_020753
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CASKIN2
Cluster EST : UnigeneHs.745460 [ NCBI ]
CGAP (NCI)Hs.745460
Alternative Splicing GalleryENSG00000177303
Gene ExpressionCASKIN2 [ NCBI-GEO ]   CASKIN2 [ EBI - ARRAY_EXPRESS ]   CASKIN2 [ SEEK ]   CASKIN2 [ MEM ]
Gene Expression Viewer (FireBrowse)CASKIN2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57513
GTEX Portal (Tissue expression)CASKIN2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WXE0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WXE0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WXE0
Splice isoforms : SwissVarQ8WXE0
PhosPhoSitePlusQ8WXE0
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    SAM_DOMAIN (PS50105)    SH3 (PS50002)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    Caskin_C    SAM    SAM/pointed    SH3_2    SH3_domain   
Domain families : Pfam (Sanger)Ank_2 (PF12796)    Caskin-tail (PF16632)    SAM_1 (PF00536)    SH3_2 (PF07653)   
Domain families : Pfam (NCBI)pfam12796    pfam16632    pfam00536    pfam07653   
Domain families : Smart (EMBL)ANK (SM00248)  SAM (SM00454)  SH3 (SM00326)  
Conserved Domain (NCBI)CASKIN2
DMDM Disease mutations57513
Blocks (Seattle)CASKIN2
PDB (SRS)2KE9    4IS7    5L1M   
PDB (PDBSum)2KE9    4IS7    5L1M   
PDB (IMB)2KE9    4IS7    5L1M   
PDB (RSDB)2KE9    4IS7    5L1M   
Structural Biology KnowledgeBase2KE9    4IS7    5L1M   
SCOP (Structural Classification of Proteins)2KE9    4IS7    5L1M   
CATH (Classification of proteins structures)2KE9    4IS7    5L1M   
SuperfamilyQ8WXE0
Human Protein AtlasENSG00000177303
Peptide AtlasQ8WXE0
HPRD09872
IPIIPI00103516   IPI00916548   
Protein Interaction databases
DIP (DOE-UCLA)Q8WXE0
IntAct (EBI)Q8WXE0
FunCoupENSG00000177303
BioGRIDCASKIN2
STRING (EMBL)CASKIN2
ZODIACCASKIN2
Ontologies - Pathways
QuickGOQ8WXE0
Ontology : AmiGOmolecular_function  nucleoplasm  cytoplasm  biological_process  membrane  
Ontology : EGO-EBImolecular_function  nucleoplasm  cytoplasm  biological_process  membrane  
NDEx NetworkCASKIN2
Atlas of Cancer Signalling NetworkCASKIN2
Wikipedia pathwaysCASKIN2
Orthology - Evolution
OrthoDB57513
GeneTree (enSembl)ENSG00000177303
Phylogenetic Trees/Animal Genes : TreeFamCASKIN2
HOVERGENQ8WXE0
HOGENOMQ8WXE0
Homologs : HomoloGeneCASKIN2
Homology/Alignments : Family Browser (UCSC)CASKIN2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCASKIN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CASKIN2
dbVarCASKIN2
ClinVarCASKIN2
1000_GenomesCASKIN2 
Exome Variant ServerCASKIN2
ExAC (Exome Aggregation Consortium)CASKIN2 (select the gene name)
Genetic variants : HAPMAP57513
Genomic Variants (DGV)CASKIN2 [DGVbeta]
DECIPHERCASKIN2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCASKIN2 
Mutations
ICGC Data PortalCASKIN2 
TCGA Data PortalCASKIN2 
Broad Tumor PortalCASKIN2
OASIS PortalCASKIN2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCASKIN2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCASKIN2
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 CASKIN2
DgiDB (Drug Gene Interaction Database)CASKIN2
DoCM (Curated mutations)CASKIN2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CASKIN2 (select a term)
intoGenCASKIN2
Cancer3DCASKIN2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612185   
Orphanet
MedgenCASKIN2
Genetic Testing Registry CASKIN2
NextProtQ8WXE0 [Medical]
TSGene57513
GENETestsCASKIN2
Target ValidationCASKIN2
Huge Navigator CASKIN2 [HugePedia]
snp3D : Map Gene to Disease57513
BioCentury BCIQCASKIN2
ClinGenCASKIN2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57513
Chemical/Pharm GKB GenePA134944093
Clinical trialCASKIN2
Miscellaneous
canSAR (ICR)CASKIN2 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCASKIN2
EVEXCASKIN2
GoPubMedCASKIN2
iHOPCASKIN2
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 15:42:09 CEST 2017

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