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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CASKIN2 Gene

protein-coding   GIFtS: 49
GCID: GC17M073496

CASK Interacting Protein 2

  Search for CASKIN2
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
CASK Interacting Protein 21 2
KIAA11393 5
ANKS5B2
caskin-22
CASK-Interacting Protein 23

External Ids:    HGNC: 182001   Entrez Gene: 575132   Ensembl: ENSG000001773037   OMIM: 6121855   UniProtKB: Q8WXE03   

Export aliases for CASKIN2 gene to outside databases

Previous GC identifers: GC00U990821 GC17M076522 GC17M073960 GC17M074093 GC17M071007 GC17M068919


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CASKIN2 Gene:
This gene encodes a large protein that contains six ankyrin repeats, as well as a Src homology 3 (SH3) domain and
two sterile alpha motif (SAM) domains, which may be involved in protein-protein interactions. The C-terminal
portion of this protein is proline-rich and contains a conserved region. A related protein interacts with
calcium/calmodulin-dependent serine protein kinase (CASK). Alternative splicing results in multiple transcript
variants. (provided by RefSeq, Mar 2013)

GeneCards Summary for CASKIN2 Gene: 
CASKIN2 (CASK interacting protein 2) is a protein-coding gene. GO annotations related to this gene include molecular_function. An important paralog of this gene is CASKIN1.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CASKIN2 gene promoter:
         NF-1/L   Pax-6   HOXA5   HNF-4alpha2   Ik-1   C/EBPalpha   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCASKIN2 promoter sequence
   Search SABiosciences Chromatin IP Primers for CASKIN2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CASKIN2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q25.1   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q25.2

CASKIN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CASKIN2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M073496:  view genomic region     (about GC identifiers)

Start:
73,496,342 bp from pter      End:
73,511,664 bp from pter
Size:
15,323 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CSKI2_HUMAN, Q8WXE0 (See protein sequence)
Recommended Name: Caskin-2  
Size: 1202 amino acids; 126783 Da
Subunit: May not bind CASK
Subcellular location: Cytoplasm (By similarity)
1 PDB 3D structure from and Proteopedia for CASKIN2:
2KE9 (3D)    
Secondary accessions: B4DTT3 B7Z9H1 Q7LG69 Q9ULT1
Alternative splicing: 2 isoforms:  Q8WXE0-1   Q8WXE0-2   

Explore the universe of human proteins at neXtProt for CASKIN2: NX_Q8WXE0

Explore proteomics data for CASKIN2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WXE0

  • CASKIN2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CASKIN2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001136115.1  NP_065804.2  

    ENSEMBL proteins: 
     ENSP00000325355   ENSP00000406963   ENSP00000464300   ENSP00000463211  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ISS12040031

    CASKIN2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ANKRD: Ankyrin repeat domain containing
    SAMD: Sterile alpha motif (SAM) domain containing

    5/9 InterPro protein domains (see all 9):
     IPR027001 Caskin/Ankyrin_rpt_con_pro
     IPR021129 SAM_type1
     IPR001452 SH3_domain
     IPR002110 Ankyrin_rpt
     IPR011511 SH3_2

    Graphical View of Domain Structure for InterPro Entry Q8WXE0

    ProtoNet protein and cluster: Q8WXE0

    4 Blocks protein domains:
    IPB001452 SH3 domain signature
    IPB001660 Sterile alpha motif SAM
    IPB002110 Ankyrin repeat signature
    IPB011511 Variant SH3


    UniProtKB/Swiss-Prot: CSKI2_HUMAN, Q8WXE0
    Similarity: Contains 6 ANK repeats
    Similarity: Contains 2 SAM (sterile alpha motif) domains
    Similarity: Contains 1 SH3 domain


    CASKIN2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding ----
         
    CASKIN2 for ontologies           About GeneDecksing


    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidCASKIN2 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CASKIN2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    4 Interacting proteins for CASKIN2 (Q8WXE02, 3 ENSP000003253554) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PACSIN1Q9BY113I2D: score=2 
    TGFBR1P368973I2D: score=2 
    SH3KBP1ENSP000003809214STRING: ENSP00000380921
    --Q777G92MINT-6769915
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    CASKIN2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CASKIN2 (CSKI2)

    Search CenterWatch for drugs/clinical trials and news about CASKIN2 / CSKI2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CASKIN2 gene (2 alternative transcripts): 
    NM_001142643.2  NM_020753.4  

    Unigene Cluster for CASKIN2:

    CASK interacting protein 2
    Hs.274408  [show with all ESTs]
    Unigene Representative Sequence: NM_020753
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000321617(uc010wsc.2 uc002joc.3) ENST00000433559 ENST00000580021
    ENST00000581870(uc002jod.3) ENST00000583258 ENST00000583246 ENST00000580075

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    hsa-miR-569 hsa-miR-34b* hsa-miR-206 hsa-miR-3673 hsa-miR-3152-3p hsa-miR-1266 hsa-miR-586 hsa-miR-1
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    Additional mRNA sequence: 

    AB032965.1 AF451976.1 AK025262.1 AK300354.1 AK315936.1 BC032359.1 BC066643.1 

    4 DOTS entries:

    DT.97814321  DT.100818985  DT.91765253  DT.100038258 

    24/114 AceView cDNA sequences (see all 114):

    BC066643 BQ229696 AA640137 NM_020753 CB216246 BI966142 BG392360 AA586863 
    BM716852 BG913088 BE294747 AW005347 BI966211 BF530041 AA362564 AA300357 
    BU624833 CK904068 AI479679 BI011157 AI637753 BX117405 AB032965 BM717363 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for CASKIN2 (see all 12)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16a ·
    SP1:                                                                                                                                                            
    SP2:                                                                                -                                                                           
    SP3:                                                                                -                                                                           
    SP4:                                                                                                                                                            
    SP5:                                                                                -                                                                           

    ExUns: 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25
    SP1:                                                                        
    SP2:                                                                        
    SP3:                                                                        
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for CASKIN2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CASKIN2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAATACACA
    CASKIN2 Expression
    About this image


    See CASKIN2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CASKIN2

    SOURCE GeneReport for Unigene cluster: Hs.274408
        SABiosciences Custom PCR Arrays for CASKIN2
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CASKIN2 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Caskin21 , 5 CASK-interacting protein 21, 5 85.46(n)1
    90.14(a)1
      11 (80.91 cM)5
    1407211  NM_080643.21  NP_542374.21 
     1157991835 
    chicken
    (Gallus gallus)
    Aves CASKIN21 CASK interacting protein 2 65.12(n)
    62.92(a)
      422125  XM_420128.3  XP_420128.3 
    lizard
    (Anolis carolinensis)
    Reptilia CASKIN26
    CASK interacting protein 2
    60(a)
    1 ↔ 1
    2(114303331-114402517)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.22972 Xenopus laevis transcribed sequence with weak similarity more 75.07(n)    48023046 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.214602 Transcribed sequence with weak similarity to protein more 76.9(n)    57050370 
    fruit fly
    (Drosophila melanogaster)
    Insecta ckn6
    caskin
    15(a)
    1 → many
    2R(10850819-10868089)


    ENSEMBL Gene Tree for CASKIN2 (if available)
    TreeFam Gene Tree for CASKIN2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CASKIN2 gene
    CASKIN12  ANKS1A2  ANKS1B2  
    13 SIMAP similar genes for CASKIN2 using alignment to 3 protein entries:     CSKI2_HUMAN (see all proteins):
    OSBPL1A    ANKS1A    ANKRD12    KRIT1    ANKRD42    HACE1
    RAI14    ANKRD6    ANKRD44    CDKN2C    GABPB1    ANKRD65
    FEM1B

    CASKIN2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/606 SNPs in CASKIN2 are shown (see all 606)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs349602421,2
    C--68930466(+) GGCAT-/CTTA  
            
    CTATG
    1 -- int10--------
    rs594310521,2
    C--68930468(+) CATCTTACT/-  
            
    ATGTT
    2 -- int1 us2k11Minor allele frequency- -:0.50NA 2
    rs359026451,2
    C--68931592(+) CAAGG-/CCCCAC 1 -- int11Minor allele frequency- C:0.00NA 2
    rs2015847791,2
    --68936672(+) GGGGTA/GAGGGA 1 -- us2k10--------
    rs353098261,2
    C--73509281(+) GCCTA-/C/CCTA
            
    GGTGG
    1 -- int10--------
    rs1410252991,2
    C--73509281(+) GGAGG-/CCTA  
            
    CCTAG
    1 -- int10--------
    rs1470509161,2
    --74579808(+) GCCGAC/TGCGTC 2 -- ds50010--------
    rs1917632791,2
    --74579842(+) GGCAGC/GGGGGT 2 -- ds50010--------
    rs1383940421,2
    --74579928(+) ATGGAA/GCAGGG 2 -- ds50010--------
    rs1847341491,2
    --74579989(+) CTGTCA/GGTCTT 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for CASKIN2 (73496342 - 73511664 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for CASKIN2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv516133CNV Loss19592680
    nsv470603CNV Loss18288195
    nsv908775CNV Loss21882294
    nsv908762CNV Loss21882294
    dgv3256n71CNV Loss21882294
    nsv833542CNV Loss17160897
    dgv3258n71CNV Loss21882294
    dgv3257n71CNV Loss21882294
    nsv908763CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CASKIN2 for disorders           About MalaCards
    OMIM gene information: 612185    OMIM disorders: --


    CASKIN2 for disorders           About GeneDecksing


    Export disorders for CASKIN2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CASKIN2 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with CASKIN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CASK participates in alternative tripartite complexes in which Mint 1 competes for binding with Caskin 1, a novel CASK-binding protein. (PubMed id 12040031)1, 2, 3 Tabuchi K.... Suedhof T.C. (2002)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2 Hirosawa M.... Ohara O. (1999)
    4. Error tolerant NMR backbone resonance assignment and automated structure generation. (PubMed id 21328705)2 Alipanahi B.... Li M. (2011)
    5. A human sterile alpha motif domain polymerizome. (PubMed id 21805519)1 Knight M.J....Bowie J.U. (2011)
    6. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    7. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    8. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
    9. Proteins recruited by SH3 domains of Ruk/CIN85 adaptor identified by LC-MS/MS. (PubMed id 19531213)1 Havrylov S....Redowicz M.J. (2009)
    10. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57513 HGNC: 18200 AceView: CASKIN2 Ensembl:ENSG00000177303 euGenes: HUgn57513
    ECgene: CASKIN2 H-InvDB: CASKIN2

    (According to HUGE)
    About This Section
    HUGE: KIAA1139

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CASKIN2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CASKIN2 gene:
    Search GeneIP for patents involving CASKIN2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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