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CLIP2 Gene

protein-coding   GIFtS: 53
GCID: GC07P073703

CAP-GLY Domain Containing Linker Protein 2

(Previous names: cytoplasmic linker 2, Williams-Beuren syndrome chromosome...)
(Previous symbols: WBSCR4, CYLN2, WBSCR3)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
CAP-GLY Domain Containing Linker Protein 21 2     Williams-Beuren Syndrome Chromosomal Region 3 Protein2 3
CYLN21 2 3 5     Williams-Beuren Syndrome Chromosomal Region 4 Protein2 3
WBSCR41 2 3 5     CLIP-1152 3
WBSCR31 2 3     CLIP2
WSCR42 3 5     WSCR32
Cytoplasmic Linker 21 2     CAP-Gly Domain-Containing Linker Protein 22
Williams-Beuren Syndrome Chromosome Region 31 2     Williams-Beuren Syndrome Chromosome Region 42
Cytoplasmic Linker Protein 1152 3     KIAA02913
Cytoplasmic Linker Protein 22 3     

External Ids:    HGNC: 25861   Entrez Gene: 74612   Ensembl: ENSG000001066657   OMIM: 6034325   UniProtKB: Q9UDT63   

Export aliases for CLIP2 gene to outside databases

Previous GC identifers: GC07P073342 GC07P069585


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CLIP2 Gene:
The protein encoded by this gene belongs to the family of cytoplasmic linker proteins, which have been proposed to
mediate the interaction between specific membranous organelles and microtubules. This protein was found to
associate with both microtubules and an organelle called the dendritic lamellar body. This gene is hemizygously
deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at
7q11.23. Alternative splicing of this gene generates 2 transcript variants. (provided by RefSeq, Jul 2008)

GeneCards Summary for CLIP2 Gene:
CLIP2 (CAP-GLY domain containing linker protein 2) is a protein-coding gene. Diseases associated with CLIP2 include williams-beuren syndrome, and distal hereditary motor neuropathy. An important paralog of this gene is CEP350.

UniProtKB/Swiss-Prot: CLIP2_HUMAN, Q9UDT6
Function: Seems to link microtubules to dendritic lamellar body (DLB), a membranous organelle predominantly
present in bulbous dendritic appendages of neurons linked by dendrodendritic gap junctions. May operate in the
control of brain-specific organelle translocations (By similarity)

Gene Wiki entry for CLIP2 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007933.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the CLIP2 gene promoter:
         FOXD1   HNF-3beta   E47   HNF-1A   FOXL1   HNF-1   Zic1   FOXO1a   Ik-1   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): CLIP2 promoter sequence
   Search Chromatin IP Primers for CLIP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CLIP2


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

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.23

CLIP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLIP2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P073703:  view genomic region     (about GC identifiers)

Start:
73,703,805 bp from pter      End:
73,820,273 bp from pter
Size:
116,469 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 73,036,877-73,153,345     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CLIP2_HUMAN, Q9UDT6 (See protein sequence)
Recommended Name: CAP-Gly domain-containing linker protein 2  
Size: 1046 amino acids; 115837 Da
Subunit: Interacts with CLASP1 and CLASP2
Sequence caution: Sequence=BAA22960.2; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for CLIP2:
2CP2 (3D)        2CP3 (3D)    
Secondary accessions: O14527 O43611
Alternative splicing: 2 isoforms:  Q9UDT6-1   Q9UDT6-2   

Explore the universe of human proteins at neXtProt for CLIP2: NX_Q9UDT6

Explore proteomics data for CLIP2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CLIP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_003379.3  NP_115797.1  

    ENSEMBL proteins: 
     ENSP00000355151   ENSP00000378500   ENSP00000417597   ENSP00000419938   ENSP00000223398  

    CLIP2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals CLIP2 Proteins
    Novus Biologicals CLIP2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CLIP2

    CLIP2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Search for Antibodies for CLIP2 at Abcam
    Cloud-Clone Corp. Antibodies for CLIP2
    Search ThermoFisher Antibodies for CLIP2
    LSBio Antibodies in human, mouse, rat for CLIP2

    CLIP2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for CLIP2
    Cloud-Clone Corp. CLIAs for CLIP2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR000938 CAP-Gly_domain
     IPR028394 CLIP2

    Graphical View of Domain Structure for InterPro Entry Q9UDT6

    ProtoNet protein and cluster: Q9UDT6

    1 Blocks protein domain: IPB000938 CAP-Gly domain

    UniProtKB/Swiss-Prot: CLIP2_HUMAN, Q9UDT6
    Similarity: Contains 2 CAP-Gly domains


    CLIP2 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CLIP2_HUMAN, Q9UDT6
    Function: Seems to link microtubules to dendritic lamellar body (DLB), a membranous organelle predominantly
    present in bulbous dendritic appendages of neurons linked by dendrodendritic gap junctions. May operate in the
    control of brain-specific organelle translocations (By similarity)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    CLIP2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CLIP2:
     Decreased homologous recombina 

         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Clip2):
     behavior/neurological  cellular  growth/size/body  nervous system  normal 
     skeleton 

    CLIP2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CLIP2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CLIP2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CLIP2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CLIP2

    miRNA
    Products:
        
    miRTarBase miRNAs that target CLIP2:
    hsa-mir-16-5p (MIRT051153), hsa-mir-335-5p (MIRT017277)

    Block miRNA regulation of human, mouse, rat CLIP2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CLIP2 (see all 28):
    hsa-miR-644 hsa-miR-125a-5p hsa-miR-4254 hsa-miR-429 hsa-miR-520d-5p hsa-miR-411 hsa-miR-200a hsa-miR-219-5p
    SwitchGear 3'UTR luciferase reporter plasmidCLIP2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CLIP2
    Predesigned siRNA for gene silencing in human, mouse, rat CLIP2

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for CLIP2 (see all 10)
    OriGene ORF clones in mouse, rat for CLIP2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CLIP2 (NM_032421)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CLIP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLIP2

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for CLIP2
    Browse ESI BIO Cell Lines and PureStem Progenitors for CLIP2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLIP2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CLIP2_HUMAN, Q9UDT6: Cytoplasm (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=Associated with the
    cytoskeleton (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol3
    nucleus3

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005875microtubule associated complex TAS9799601
    GO:0005881cytoplasmic microtubule IEA--
    GO:0016020membrane ----

    CLIP2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including CLIP2: 
              Cytoskeleton Regulators in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CLIP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CLIP2 (Q9UDT63 ENSP000002233984) via UniProtKB, MINT, STRING, and/or I2D (see all 67)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CLASP1Q7Z4603, ENSP000002637104I2D: score=3 STRING: ENSP00000263710
    MAXP612443, ENSP000003514904I2D: score=3 STRING: ENSP00000351490
    CLASP2O751223, ENSP000003525814I2D: score=3 STRING: ENSP00000352581
    DYNLL1P631673I2D: score=3 
    YWHABP319463I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016192vesicle-mediated transport ----

    CLIP2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CLIP2



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CLIP2 gene (2 alternative transcripts): 
    NM_003388.4  NM_032421.2  

    Unigene Cluster for CLIP2:

    CAP-GLY domain containing linker protein 2
    Hs.647018  [show with all ESTs]
    Unigene Representative Sequence: NM_003388
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361545 ENST00000395060(uc003uao.3) ENST00000487091 ENST00000493166
    ENST00000482424 ENST00000491075 ENST00000474962 ENST00000487447 ENST00000223398(uc003uam.3 uc003uan.3)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CLIP2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CLIP2 (see all 28):
    hsa-miR-644 hsa-miR-125a-5p hsa-miR-4254 hsa-miR-429 hsa-miR-520d-5p hsa-miR-411 hsa-miR-200a hsa-miR-219-5p
    SwitchGear 3'UTR luciferase reporter plasmidCLIP2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CLIP2
    Predesigned siRNA for gene silencing in human, mouse, rat CLIP2
    Clone
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    OriGene clones in human, mouse for CLIP2 (see all 10)
    OriGene ORF clones in mouse, rat for CLIP2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CLIP2 (NM_032421)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CLIP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLIP2
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for CLIP2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CLIP2
      QuantiTect SYBR Green Assays in human, mouse, rat CLIP2
      QuantiFast Probe-based Assays in human, mouse, rat CLIP2

    Additional mRNA sequence: 

    AB006629.2 AK095186.1 AY295764.1 AY927468.1 AY927469.1 AY927482.1 AY927584.1 BC006259.2 
    BC150332.1 

    6 DOTS entries:

    DT.315891  DT.95370679  DT.100707389  DT.121121335  DT.99999520  DT.100783968 

    Selected AceView cDNA sequences (see all 176):

    BQ945124 AI638716 W73173 AW024344 BF932343 CR600159 AW002459 BX279666 
    NM_032421 CD674891 BM793042 AI151132 NM_003388 AI204077 BE552298 BX281179 
    AB006629 AA402198 CB156486 AI655957 AY295764 AW027862 AW590662 BU624521 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CLIP2    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17
    SP1:                                                  -                                                               
    SP2:                                                                                                                  
    SP3:                                                                                                        -         


    ECgene alternative splicing isoforms for CLIP2

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CLIP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCCCTCCCC
    CLIP2 Expression
    About this image


    CLIP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    CLIP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CLIP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.647018
        Pathway & Disease-focused RT2 Profiler PCR Array including CLIP2: 
              Cytoskeleton Regulators in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for CLIP2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CLIP2
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    QuantiFast Probe-based Assays in human, mouse, rat CLIP2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLIP2

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CLIP2 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Clip21 , 5 CAP-GLY domain containing linker protein 21, 5 85.95(n)1
    91.78(a)1
      5 (74.63 cM)5
    2697131  NM_009990.31  NP_034120.21 
     1344893865 
    chicken
    (Gallus gallus)
    Aves CLIP21 CAP-GLY domain containing linker protein 2 76.42(n)
    78.58(a)
      417488  XM_415736.4  XP_415736.4 
    lizard
    (Anolis carolinensis)
    Reptilia CLIP26
    CAP-GLY domain containing linker protein 2
    78(a)
    1 ↔ 1
    GL343889.1(62335-97855)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia clip21 CAP-GLY domain containing linker protein 2 66.8(n)
    73.09(a)
      100487868  XM_002932291.2  XP_002932337.2 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.143482 Transcribed sequence with weak similarity to protein more 77.09(n)    BG738732.1 


    ENSEMBL Gene Tree for CLIP2 (if available)
    TreeFam Gene Tree for CLIP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CLIP2 gene
    CEP3502  CLIP32  TBCB2  CLIP42  CLIP12  DCTN12  ENSG000002643242  
    2 SIMAP similar genes for CLIP2 using alignment to 4 protein entries:     CLIP2_HUMAN (see all proteins):
    CYLN2    CLIP1

    CLIP2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CLIP2
    PGOHUM00000240497


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CLIP2 (see all 2719)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs30443891,2
    C--73044190(-) ttttt-/TTgagac 2 -- int1 trp30--------
    rs615292221,2
    C--73044207(+) AAAAA-/AA/AAA
            
    GAGAA
    4 -- int1 cds11NA 2
    rs561161141,2
    C--73045994(+) GCGTG-/GCGTG 
            
    ATCTC
    2 -- int11Minor allele frequency- GCGTG:0.00NA 2
    rs563841521,2
    C--73048965(+) TTTTTTT/-GTATT 2 -- int11Minor allele frequency- -:0.00NA 2
    rs342055941,2
    C--73051314(+) TCTCA-/A/AA  
            
    AAAAA
    2 -- int10--------
    rs113729081,2
    C--73051958(+) CTGAC-/AAAAAA 2 -- int1 trp30--------
    rs58849371,2
    C--73051972(+) AAAAAA/-GTTTA 2 -- int1 trp31Minor allele frequency- -:0.00NA 2
    rs2000969971,2
    --73053264(+) CCCCC-/CCCA  
            
    CCGCC
    2 -- int10--------
    rs2009699961,2
    --73053265(+) CCCCC-/CCACCGCC 2 -- int10--------
    rs2016211781,2
    --73053266(+) CCCCC-/CACCGCC 2 -- int10--------

    HapMap Linkage Disequilibrium report for CLIP2 (73703805 - 73820273 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CLIP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2661080CNV Deletion23128226
    esv2734668CNV Deletion23290073
    esv2667384CNV Deletion23128226
    nsv831032CNV Loss17160897
    nsv5793CNV Loss18451855
    nsv831031CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603432    OMIM disorders: --

    UniProtKB/Swiss-Prot: CLIP2_HUMAN, Q9UDT6
  • Note=CLIP2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a
    hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing
    over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of CLIP2
    may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease

  • 16 diseases for CLIP2:    
    About MalaCards
    williams-beuren syndrome    distal hereditary motor neuropathy    tooth disease    charcot-marie-tooth disease
    papillary thyroid carcinoma    neuropathy    tonsillitis    thyroiditis
    retinitis    hepatitis    multiple myeloma    myeloma
    cerebritis    neuronitis    prostatitis    endotheliitis


    CLIP2 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for CLIP2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    williams syndrome 85.5 3 14745832 (2), 12195424 (1)

    Genetic Association Database (GAD): CLIP2
    Human Genome Epidemiology (HuGE) Navigator: CLIP2 (2 documents)

    Export disorders for CLIP2 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)
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    PubMed articles for CLIP2 gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with CLIP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The murine CYLN2 gene: genomic organization, chromosome localization, and comparison to the human gene that is located within the 7q11.23 Williams syndrome critical region. (PubMed id 9799601)1, 2, 3, 9 Hoogenraad C.C.... Galjart N. (Genomics 1998)
    2. Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. (PubMed id 8812460)1, 2, 3 Osborne L.R.... Tsui L.-C. (Genomics 1996)
    3. Clasps are CLIP-115 and -170 associating proteins involved in the regional regulation of microtubule dynamics in motile fibroblasts. (PubMed id 11290329)1, 2, 9 Akhmanova A....Galjart N. (Cell 2001)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    6. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (DNA Res. 2002)
    7. Construction and characterization of human brain cDNA libraries suitable for analysis of cDNA clones encoding relatively large proteins. (PubMed id 9179496)1, 2 Ohara O....Nomura N. (DNA Res. 1997)
    8. Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice. (PubMed id 12195424)1, 9 Hoogenraad C.C....Galjart N. (Nat. Genet. 2002)
    9. Intersectin (ITSN) family of scaffolds function as molecular hubs in protein interaction networks. (PubMed id 22558309)1 Wong K.A....O'Bryan J.P. (PLoS ONE 2012)
    10. The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome. (PubMed id 22608712)1 Vandeweyer G....Kooy R.F. (Am. J. Hum. Genet. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7461 HGNC: 2586 AceView: CYLN2 Ensembl:ENSG00000106665 euGenes: HUgn7461
    ECgene: CLIP2 H-InvDB: CLIP2

    (According to HUGE)
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    HUGE: KIAA0291

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CLIP2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CLIP2 gene:
    Search GeneIP for patents involving CLIP2

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



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