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

CIB1 Gene

protein-coding   GIFtS: 60
GCID: GC15M090773

Calcium And Integrin Binding 1 (Calmyrin)

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(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
Calcium And Integrin Binding 1 (Calmyrin)1 2     KIP12
CIB2 3 5     Calcium And Integrin-Binding Protein 12
CIBP2 3     DNA-Dependent Protein Kinase Interacting Protein2
PRKDCIP2 3     DNA-PK Interaction Protein2
SIP2-282 3     Calmyrin3
DNA-PKcs-Interacting Protein2 3     Calcium- And Integrin-Binding Protein3
SNK-Interacting Protein 2-282 3     Kinase-Interacting Protein3
KIP3 5     

External Ids:    HGNC: 169201   Entrez Gene: 105192   Ensembl: ENSG000001850437   OMIM: 6022935   UniProtKB: Q998283   

Export aliases for CIB1 gene to outside databases

Previous GC identifers: GC15P087395 GC15M084280 GC15M088360 GC15M088503 GC15M088574 GC15M066885


(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 CIB1 Gene:
This gene encodes a member of the EF-hand domain-containing calcium-binding superfamily. The encoded protein
interacts with many other proteins, including the platelet integrin alpha-IIb-beta-3, DNA-dependent protein
kinase, presenilin-2, focal adhesion kinase, p21 activated kinase, and protein kinase D. The encoded protein may
be involved in cell survival and proliferation, and is associated with several disease states including cancer
and Alzheimer's disease. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Apr
2013)

GeneCards Summary for CIB1 Gene: 
CIB1 (calcium and integrin binding 1 (calmyrin)) is a protein-coding gene. Diseases associated with CIB1 include papillary thyroid carcinoma, and wiskott-aldrich syndrome, and among its related super-pathways are Development Angiotensin activation of ERK. GO annotations related to this gene include protein anchor and calcium ion binding. An important paralog of this gene is CIB3.

UniProtKB/Swiss-Prot: CIB1_HUMAN, Q99828
Function: May convert the inactive conformation of integrin alpha-IIb/beta3 to an active form through binding to
the integrin cytoplasmic domain. Induces cell migration and spreading mediated through integrin (possibly via
focal adhesion complexes). Functions as a negative regulator of stress activated MAP kinase (MAPK) signaling
pathways. May play a role in regulation of apoptosis. Interacts with and up-regulates PTK2/FAK1 activity. Down
regulates inositol 1,4,5-trisphosphate receptor-dependent calcium signaling. Participates in endomitotic cell
cycle, a form of mitosis in which both karyokinesis and cytokinesis are interrupted and is a hallmark of
megakaryocyte differentiation

Gene Wiki entry for CIB1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.2  NT_010274.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CIB1 gene promoter:
         RFX1   Sp1   Brachyury   Egr-1   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   Egr-4   YY1   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCIB1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CIB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CIB1


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

Entrez Gene cytogenetic band: 15q25.3-q26   Ensembl cytogenetic band:  15q26.1   HGNC cytogenetic band: 15q25.3-q26

CIB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CIB1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M090773:  view genomic region     (about GC identifiers)

Start:
90,773,207 bp from pter      End:
90,777,279 bp from pter
Size:
4,073 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: CIB1_HUMAN, Q99828 (See protein sequence)
Recommended Name: Calcium and integrin-binding protein 1  
Size: 191 amino acids; 21703 Da
Subunit: Monomer. Interacts with the heterodimeric integrin alpha-IIb/beta3. Interacts with the protein kinases
PLK2/SNK and with the region immediately upstream of the kinase domain of DNA-PK. Interacts with PLK3; leading to
inhibit PLK3 kinase activity. Interacts with PSEN2. Interacts with MYO1C (By similarity). Interacts (via
C-terminus) with F8. Interacts with NBR1 (via C-terminus). Interacts with FEZ1 (via C-terminus). Interacts with
UBR5 (via C-terminus); the interaction is sensitive to DNA damage, and may target CIB1 for ubiquitin-mediated
degradation. Interacts with IFI6. Interacts with BCL2. Interacts with TAS1R2 (via C-terminus); this interaction
is independent of the myristoylation state of CIB1. Interacts with ITPR3; in a calcium dependent manner.
Interacts with PTK2/FAK1. Interacts with MAP3K5; inhibiting MAP3K5 activation by phosphorylation, and its
subsequent interaction with TRAF2
Subcellular location: Membrane; Lipid-anchor. Cytoplasm. Nucleus. Cell projection, filopodium. Apical cell
membrane. Note=Localizes to the perinuclear region in the presence of NBR1. Colocalizes with TAS1R2 in apical
regions of taste receptor cells
6/7 PDB 3D structures from and Proteopedia for CIB1 (see all 7):
1DGU (3D)        1DGV (3D)        1XO5 (3D)        1Y1A (3D)        2L4H (3D)        2L4I (3D)    
Secondary accessions: B5BU40 O00693 O00735 Q6IB49 Q96J54 Q99971

Explore the universe of human proteins at neXtProt for CIB1: NX_Q99828

Explore proteomics data for CIB1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99828

  • CIB1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CIB1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001264693.1  NP_006375.2  

    ENSEMBL proteins: 
     ENSP00000333873  

    Human Recombinant Protein Products for CIB1: 
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    Novus Biologicals CIB1 Proteins
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    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for CIB1
    Cloud-Clone Corp. Proteins for CIB1 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm IMP10366599
    GO:0005737cytoplasm IMP10366599
    GO:0005783endoplasmic reticulum IMP10366599
    GO:0016020membrane IDA10366599
    GO:0016324apical plasma membrane IEA--

    CIB1 for ontologies           About GeneDecksing



    CIB1 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for CIB1 

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    Cloud-Clone Corp. ELISAs for CIB1 
    Cloud-Clone Corp. CLIAs for CIB1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    EFHAND: EF-hand domain containing

    3 InterPro protein domains:
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_dom
     IPR018247 EF_Hand_1_Ca_BS

    Graphical View of Domain Structure for InterPro Entry Q99828

    ProtoNet protein and cluster: Q99828

    UniProtKB/Swiss-Prot: CIB1_HUMAN, Q99828
    Similarity: Contains 2 EF-hand domains


    CIB1 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CIB1_HUMAN, Q99828
    Function: May convert the inactive conformation of integrin alpha-IIb/beta3 to an active form through binding to
    the integrin cytoplasmic domain. Induces cell migration and spreading mediated through integrin (possibly via
    focal adhesion complexes). Functions as a negative regulator of stress activated MAP kinase (MAPK) signaling
    pathways. May play a role in regulation of apoptosis. Interacts with and up-regulates PTK2/FAK1 activity. Down
    regulates inositol 1,4,5-trisphosphate receptor-dependent calcium signaling. Participates in endomitotic cell
    cycle, a form of mitosis in which both karyokinesis and cytokinesis are interrupted and is a hallmark of
    megakaryocyte differentiation

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IMP15475008
    GO:0005515protein binding IPI10366599
    GO:0043495protein anchor IGI--
    GO:0044325ion channel binding IEA--
         
    CIB1 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cib1):
     cellular  endocrine/exocrine gland  reproductive system 

    CIB1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cib1tm1Prse for CIB1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CIB1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CIB1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CIB1 
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    hsa-miR-4267
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    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

    SuperPaths for CIB1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Development Angiotensin activation of ERK
    Cell adhesion Integrin inside-out signaling0.44

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for CIB1
        Cell adhesion Integrin inside-out signaling


    1 GeneGo (Thomson Reuters) Pathway for CIB1
        Cell adhesion Integrin inside-out signaling



    CIB1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CIB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/27 Interacting proteins for CIB1 (Q998282, 3 ENSP000003338734) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITGA2P173012, 3, ENSP000002965854MINT-1894979 I2D: score=1 STRING: ENSP00000296585
    WASLO004012, 3, ENSP000002230234MINT-1894563 MINT-1894734 MINT-1894761 MINT-2748633 MINT-1894885 MINT-1894939 MINT-2748609 I2D: score=1 STRING: ENSP00000223023
    PSEN2P498102, 3, ENSP000003557474MINT-15561 MINT-15560 MINT-15562 I2D: score=5 STRING: ENSP00000355747
    PRKDCP785273, ENSP000003134204I2D: score=3 STRING: ENSP00000313420
    PSEN1P497683, ENSP000003263664I2D: score=3 STRING: ENSP00000326366
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006302double-strand break repair TAS9372844
    GO:0006915apoptotic process IMP10366599
    GO:0006974response to DNA damage stimulus IDA12011095
    GO:0007113endomitotic cell cycle IDA--
    GO:0007155cell adhesion TAS9030514

    CIB1 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

    CIB1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CIB1

    8 Novoseek inferred chemical compound relationships for CIB1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 36.7 44 18627437 (6), 14992593 (4), 10822252 (3), 18197701 (3) (see all 15)
    fibrinogen 30.1 7 12714504 (3), 11756406 (2), 11704681 (1)
    threonine 26.4 2 15611134 (1), 16325270 (1)
    leucine 18.6 1 17126281 (1)
    serine 18 2 15611134 (1), 16325270 (1)
    magnesium 12.6 4 14992593 (2), 17516631 (1), 18197701 (1)
    adp 3.82 1 11704681 (1)
    alanine 0 2 12023286 (1)

    Search CenterWatch for drugs/clinical trials and news about CIB1

    (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 CIB1 gene (2 alternative transcripts): 
    NM_001277764.1  NM_006384.3  

    Unigene Cluster for CIB1:

    Calcium and integrin binding 1 (calmyrin)
    Hs.715556  [show with all ESTs]
    Unigene Representative Sequence: BM541902
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000328649(uc002bpb.4)

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    Additional mRNA sequence: 

    AB451276.1 AB451406.1 AL355700.1 BC000846.2 CR456955.1 JQ246073.1 U82226.1 U83236.1 
    U85611.1 

    24/26 DOTS entries (see all 26):

    DT.75123307  DT.95274783  DT.95274797  DT.102833468  DT.100880916  DT.95200729  DT.449823  DT.101985414 
    DT.95363029  DT.97864539  DT.100813547  DT.121026732  DT.100813546  DT.91744994  DT.91772111  DT.92441628 
    DT.100034260  DT.102832378  DT.121026742  DT.439451  DT.91960323  DT.95274812  DT.100813545  DT.100880910 

    24/439 AceView cDNA sequences (see all 439):

    AI470697 BM756019 BU069776 BM979035 BM826544 AI200875 BM794831 CA392223 
    BU731593 BQ675862 CD742765 BM916140 BM990740 AA826393 BQ940076 BM662615 
    AJ713219 BM708932 BM710273 BM744170 CA306279 BG822101 CA432364 BQ947671 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for CIB1 (see all 12)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d · 7e ^ 8a · 8b · 8c · 8d · 8e
    SP1:              -     -                 -                                                                                 
    SP2:              -     -     -           -                                                                                 
    SP3:                                                                                                                        
    SP4:              -     -                 -                                                                                 
    SP5:              -     -     -           -                                                                                 


    ECgene alternative splicing isoforms for CIB1

    (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

    CIB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAGAGGGCG
    CIB1 Expression
    About this image


    See CIB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CIB1

    SOURCE GeneReport for Unigene cluster: Hs.715556

    UniProtKB/Swiss-Prot: CIB1_HUMAN, Q99828
    Tissue specificity: Ubiquitous

        SABiosciences Expression via Pathway-Focused PCR Array including CIB1: 
              DNA Damage Signaling Pathway in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CIB1

    (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 and fungi.

    Orthologs for CIB1 gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cib11 , 5 calcium and integrin binding 1 (calmyrin)1, 5 89.18(n)1
    93.72(a)1
      7 (45.55 cM)5
    239911  NM_011870.41  NP_036000.11 
     802271565 
    chicken
    (Gallus gallus)
    Aves CIB11 calcium and integrin binding 1 (calmyrin) 75.31(n)
    74.07(a)
      770162  XM_001233494.2  XP_001233495.2 
    lizard
    (Anolis carolinensis)
    Reptilia CIB16
    Uncharacterized protein
    75(a)
    1 ↔ 1
    AAWZ02038357(8021-10526)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.139092 Xenopus laevis transcribed sequence with weak similarity more 75.97(n)    BJ624062.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc44f062 Transcribed sequence with moderate similarity to protein more 72.13(n)    BM141096.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0084741 AGAP008474-PA 52.61(n)
    47.57(a)
      1277504  XM_316971.3  XP_316971.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CNB16
    Calcineurin B; the regulatory subunit of calcineur...
    25(a)
    1 → many
    XI(82947-83550)


    ENSEMBL Gene Tree for CIB1 (if available)
    TreeFam Gene Tree for CIB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CIB1 gene
    CIB32  CIB42  CIB22  
    4 SIMAP similar genes for CIB1 using alignment to 1 protein entry:     CIB1_HUMAN:
    CIB2    CIB3    CIB4    PPP3R1

    CIB1 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

    10/271 SNPs in CIB1 are shown (see all 271)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0195654
    ----see VAR_0195652 S T mis40--------
    rs1496761391,2
    --66922950(+) ACCTGC/GCAGGA 1 -- us2k10--------
    rs1873819371,2
    --90773565(+) CAACGA/CGGGCC 4 -- ut31 nc-transcript-variant0--------
    rs1906694991,2
    --90773653(+) ACCTTA/GGCCAC 4 -- ut31 nc-transcript-variant0--------
    rs1506327961,2
    C--90773702(+) ACACAC/TGCTGG 4 -- ut31 nc-transcript-variant0--------
    rs20737061,2
    C,F,A,H--90773782(-) TCCCTA/GCCCTC 4 -- int117Minor allele frequency- G:0.36EA NS NA WA CSA 1514
    rs740370641,2
    C,F--90773801(+) GAACTT/CGCCCC 4 -- int14Minor allele frequency- C:0.25WA CSA 124
    rs786402151,2
    C,F--90773895(+) GGAGCT/CTTCTG 4 -- int11Minor allele frequency- C:0.17WA 118
    rs20737051,2
    C,F,H--90774039(-) GGGCCG/AGCTAA 4 -- int110Minor allele frequency- A:0.36NA CSA WA EA 375
    rs1829260891,2
    --90774058(+) GGGACG/TGGGGC 4 -- int10--------

    HapMap Linkage Disequilibrium report for CIB1 (90773207 - 90777279 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for CIB1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv904491CNV Loss21882294
    nsv833087CNV Loss17160897
    dgv2435n71CNV Loss21882294
    nsv817707CNV Gain17921354
    dgv112e55CNV Gain17911159
    nsv442384CNV CNV18776908
    dgv776e1CNV Complex17122850
    dgv777e1CNV Complex17122850

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602293    OMIM disorders: --

    20 diseases for CIB1:    About MalaCards
    papillary thyroid carcinoma    wiskott-aldrich syndrome    dilated cardiomyopathy    gastric cancer
    kaposi's sarcoma    lung adenocarcinoma    alzheimer's disease    down syndrome
    retinoblastoma    thyroiditis    sarcoma    hepatitis c
    pancreatic cancer    hepatocellular carcinoma    adenocarcinoma    breast cancer
    cervicitis    pancreatitis    hepatitis    prostatitis


    CIB1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    6 Novoseek inferred disease relationships for CIB1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 14.6 2 15685448 (1)
    gastric cancer 12.7 2 16118517 (2)
    breast cancer 0 1 15059906 (1)
    metastasis 0 1 17162129 (1)
    tumors 0 4 16118517 (2), 11894123 (1), 12872447 (1)
    cancer 0 1 20392941 (1)

    Genetic Association Database (GAD): CIB1
    Human Genome Epidemiology (HuGE) Navigator: CIB1 (3 documents)

    Export disorders for CIB1 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 CIB1 gene, integrated from 9 sources (see all 112):
    (articles sorted by number of sources associating them with CIB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic structure of mouse and human genes for DNA-PKcs interacting protein (KIP). (PubMed id 10826701)1, 2, 3, 9 Hattori A.... Saito T. (2000)
    2. Identification of a novel calcium-binding protein that interacts with the integrin alphaIIb cytoplasmic domain. (PubMed id 9030514)1, 2, 3 Naik U.P.... Parise L.V. (1997)
    3. Molecular basis of CIB binding to the integrin alpha IIb cytoplasmic domain. (PubMed id 12023286)1, 2, 9 Barry W.T.... Parise L.V. (2002)
    4. Auxiliary Ca2+ binding sites can influence the structure of CIB1. (PubMed id 19388079)1, 2, 9 Yamniuk A.P.... Vogel H.J. (2009)
    5. Sweet taste receptor interacting protein CIB1 is a general inhibitor of InsP3-dependent Ca2+ release in vivo. (PubMed id 18627437)1, 2, 9 Hennigs J.K.... Schmale H. (2008)
    6. Association of CIB with GPIIb/IIIa during outside-in signaling is required for platelet spreading on fibrinogen. (PubMed id 12714504)1, 2, 9 Naik U.P. and Naik M.U. (2003)
    7. Calcium-binding calmyrin forms stable covalent dimers in vitro, but in vivo is found in monomeric form. (PubMed id 15933764)1, 2, 9 Sobczak A....Wojda U. (2005)
    8. Structures of the platelet calcium- and integrin-binding protein and the alphaIIb-integrin cytoplasmic domain suggest a mechanism for calcium-regulated recognition; homology modelling and NMR studies. (PubMed id 10822252)1, 2, 9 Hwang P.M. and Vogel H.J. (2000)
    9. G1P3, an interferon inducible gene 6-16, is expressed in gastric cancers and inhibits mitochondrial-mediated apoptosis in gastric cancer cell line TMK-1 cell. (PubMed id 15685448)1, 2, 9 Tahara E. Jr.... Tahara E. (2005)
    10. Interaction between DNA-dependent protein kinase and a novel protein, KIP. (PubMed id 9372844)1, 2, 9 Wu X. and Lieber M.R. (1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 10519 HGNC: 16920 AceView: CIB1 Ensembl:ENSG00000185043 euGenes: HUgn10519
    ECgene: CIB1 H-InvDB: CIB1

    (According to HUGE)
    About This Section
      --

    (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 CIB1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CIB1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CIB1 gene:
    Search GeneIP for patents involving CIB1

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



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    About This Section

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