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

CABIN1 Gene

protein-coding   GIFtS: 61
GCID: GC22P024407

Calcineurin Binding Protein 1

  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)
About This Section

Aliases
Calcineurin Binding Protein 11 2     Calcineurin Binding Protein Cabin 12
CAIN2 3 5     Calcineurin-Binding Protein Cabin-12
Calcineurin Inhibitor2 3     KIAA03303
PPP3IN2     

External Ids:    HGNC: 241871   Entrez Gene: 235232   Ensembl: ENSG000000999917   OMIM: 6042515   UniProtKB: Q9Y6J03   

Export aliases for CABIN1 gene to outside databases

Previous GC identifers: GC22P021103 GC22P022732 GC22P007355


(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 CABIN1 Gene:
Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein
encoded by this gene binds specifically to the activated form of calcineurin and inhibits calcineurin-mediated
signal transduction. The encoded protein is found in the nucleus and contains a leucine zipper domain as well as
several PEST motifs, sequences which confer targeted degradation to those proteins which contain them.
Alternative splicing results in multiple transcript variants encoding two different isoforms. (provided by
RefSeq, Jan 2011)

GeneCards Summary for CABIN1 Gene: 
CABIN1 (calcineurin binding protein 1) is a protein-coding gene. Diseases associated with CABIN1 include lymphocele, and arteriolosclerosis, and among its related super-pathways are Immune response Function of MEF2 in T lymphocytes and GPCR Pathway. GO annotations related to this gene include protein phosphatase inhibitor activity.

UniProtKB/Swiss-Prot: CABIN_HUMAN, Q9Y6J0
Function: May be required for replication-independent chromatin assembly. May serve as a negative regulator of
T-cell receptor (TCR) signaling via inhibition of calcineurin. Inhibition of activated calcineurin is dependent
on both PKC and calcium signals

Gene Wiki entry for CABIN1 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_000022.10  NT_011520.12  NC_018933.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CABIN1 gene promoter:
         NF-1/L   AML1a   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCABIN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CABIN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CABIN1


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

Entrez Gene cytogenetic band: 22q11.23   Ensembl cytogenetic band:  22q11.23   HGNC cytogenetic band: 22q11.23

CABIN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CABIN1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P024407:  view genomic region     (about GC identifiers)

Start:
24,407,642 bp from pter      End:
24,574,596 bp from pter
Size:
166,955 bases      Orientation:
plus 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: CABIN_HUMAN, Q9Y6J0 (See protein sequence)
Recommended Name: Calcineurin-binding protein cabin-1  
Size: 2220 amino acids; 246352 Da
Subunit: Component of a complex that includes at least ASF1A, CABIN1, HIRA, histone H3.3 and UBN1. Interacts with
calcineurin. Interacts with MEF2B
Subcellular location: Nucleus
Sequence caution: Sequence=BAA20788.2; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for CABIN1:
1N6J (3D)    
Secondary accessions: Q9Y460

Explore the universe of human proteins at neXtProt for CABIN1: NX_Q9Y6J0

Explore proteomics data for CABIN1 at MOPED 

Post-translational modifications:

  • UniProtKB: Activated through PKC-mediated hyperphosphorylation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y6J0

  • CABIN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CABIN1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001186210.1  NP_001188358.1  NP_036427.1  

    ENSEMBL proteins: 
     ENSP00000394209   ENSP00000263119   ENSP00000384694   ENSP00000412389   ENSP00000381364  
     ENSP00000336991  

    Human Recombinant Protein Products for CABIN1: 
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    Novus Biologicals CABIN1 Protein
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CABIN1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0016235aggresome IDA--

    CABIN1 for ontologies           About GeneDecksing



    CABIN1 Antibody Products: 
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    Abcam antibodies for CABIN1
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    Assay Products for CABIN1: 
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CABIN1 
    Cloud-Clone Corp. CLIAs for CABIN1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR011990 TPR-like_helical
     IPR015134 MEF2_binding
     IPR013026 TPR-contain_dom
     IPR019734 TPR_repeat

    Graphical View of Domain Structure for InterPro Entry Q9Y6J0

    ProtoNet protein and cluster: Q9Y6J0

    UniProtKB/Swiss-Prot: CABIN_HUMAN, Q9Y6J0
    Similarity: Contains 6 TPR repeats


    CABIN1 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: CABIN_HUMAN, Q9Y6J0
    Function: May be required for replication-independent chromatin assembly. May serve as a negative regulator of
    T-cell receptor (TCR) signaling via inhibition of calcineurin. Inhibition of activated calcineurin is dependent
    on both PKC and calcium signals

         Genatlas biochemistry entry for CABIN1:
    calcineurin binding protein 1,cDNA sequence,expressed in brain,>100kDa,related to murine procollagen alpha

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004864protein phosphatase inhibitor activity NAS9655484
    GO:0005515protein binding ----
         
    CABIN1 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cabin1):
     immune system  mortality/aging 

    CABIN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CABIN1: Cabin1tm1.1Che Cabin1tm1Che

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CABIN1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CABIN1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CABIN1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CABIN1 

    miRNA
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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate CABIN1:
    hsa-miR-520d-5p hsa-miR-376b hsa-miR-3613-3p hsa-miR-524-5p hsa-miR-376a
    SwitchGear 3'UTR luciferase reporter plasmidCABIN1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CABIN1


    (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 CABIN1 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Immune response Function of MEF2 in T lymphocytes
    Immune response Function of MEF2 in T lymphocytes0.90
    2GPCR Pathway
    NFAT in Immune Response0.58
    3NFAT and Cardiac Hypertrophy
    NFAT and Cardiac Hypertrophy0.42
    4Calcium signaling in the CD4+ TCR pathway
    Calcium signaling in the CD4+ TCR pathway0.38
    5DNA Damage
    Cell Cycle / Checkpoint Control0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for CABIN1
        Immune response Function of MEF2 in T lymphocytes

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CABIN1
        Calcium Mediated T-Cell Apoptosis
    Nur77 Signaling in T-Cell
    NFAT and Cardiac Hypertrophy
    NFAT in Immune Response

    3 Cell Signaling Technology (CST) Pathways for CABIN1
        Chromatin Regulation / Acetylation
    Cell Cycle / Checkpoint Control
    Lymphocyte Signaling

    1 GeneGo (Thomson Reuters) Pathway for CABIN1
        Immune response Function of MEF2 in T lymphocytes

    2 BioSystems Pathways for CABIN1
        Calcium signaling in the CD4+ TCR pathway
    Role of Calcineurin-dependent NFAT signaling in lymphocytes



    CABIN1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CABIN1

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

    5/49 Interacting proteins for CABIN1 (Q9Y6J02, 3 ENSP000002631194) via UniProtKB, MINT, STRING, and/or I2D (see all 49)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206454Q018603I2D: score=1 
    ENSG00000229094Q018603I2D: score=1 
    ENSG00000230336Q018603I2D: score=1 
    ENSG00000233911Q018603I2D: score=1 
    ENSG00000235068Q018603I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007166cell surface receptor signaling pathway NAS9655484
    GO:0016568chromatin modification IEA--

    CABIN1 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

    CABIN1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for CABIN1 (CABIN)

    1 HMDB Compound for CABIN1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    10/12 Novoseek inferred chemical compound relationships for CABIN1 gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rapamycin 80 24 18793727 (2), 16975081 (1), 17713429 (1), 19923086 (1) (see all 18)
    mycophenolate mofetil 76.3 8 19775321 (1), 18282242 (1), 18992054 (1), 12709080 (1) (see all 6)
    tacrolimus 75.4 15 11150994 (1), 16182764 (1), 11558493 (1), 15619640 (1) (see all 10)
    thymoglobulin 75.4 2 18657156 (1), 16110819 (1)
    cyclosporin a 70.1 15 18574772 (1), 11150994 (1), 16182764 (1), 11558493 (1) (see all 10)
    mycophenolic acid 66.5 1 14508385 (1)
    basiliximab 63.1 1 18282242 (1)
    alemtuzumab 48.1 2 16974888 (1), 16110819 (1)
    steroid 34.9 4 16974888 (1), 12717217 (1), 16975489 (1), 16249744 (1)
    azathioprine 11.2 1 12709080 (1)

    Search CenterWatch for drugs/clinical trials and news about CABIN1 / CABIN

    (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 CABIN1 gene (3 alternative transcripts): 
    NM_001199281.1  NM_001201429.1  NM_012295.3  

    Unigene Cluster for CABIN1:

    Calcineurin binding protein 1
    Hs.517478  [show with all ESTs]
    Unigene Representative Sequence: NM_001199281
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000454754 ENST00000263119(uc010guk.1 uc002zzi.1 uc021wnc.1 uc002zzj.1)
    ENST00000405822(uc010gul.1) ENST00000445422 ENST00000398319(uc002zzk.2 uc002zzl.2)
    ENST00000474981 ENST00000484593 ENST00000496016 ENST00000467937 ENST00000337989(uc002zzm.1)
    ENST00000495121 ENST00000485008 ENST00000459824
    miRNA
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    hsa-miR-520d-5p hsa-miR-376b hsa-miR-3613-3p hsa-miR-524-5p hsa-miR-376a
    SwitchGear 3'UTR luciferase reporter plasmidCABIN1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional mRNA sequence: 

    AB002328.2 AF072441.1 AK127950.1 AK307522.1 AL390166.1 BC013099.1 BC021929.1 BC028969.1 
    BC041659.1 BC054497.1 

    13 DOTS entries:

    DT.95310233  DT.447375  DT.97838462  DT.92062145  DT.95286036  DT.92450991  DT.97847423  DT.95310218 
    DT.86854770  DT.86854771  DT.91669963  DT.95134074  DT.120672683 

    24/245 AceView cDNA sequences (see all 245):

    BM684175 AI524517 AA923047 AI866546 BC041659 BU520950 CK300685 BU622939 
    CA390121 BF932364 CB852081 CK299251 BC054497 AI075184 BQ434025 BF929368 
    AW450279 BQ184002 BQ425780 BQ688962 AW001907 CA416329 AW071541 AF072441 

    GeneLoc Exon Structure

    5/26 Alternative Splicing Database (ASD) splice patterns (SP) for CABIN1 (see all 26)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b · 18c ^
    SP1:                    -                                                                                                                                       
    SP2:                    -                       -                                                                                                               
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 19a · 19b ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24 ^ 25a · 25b ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31 ^ 32a · 32b · 32c ^ 33 ^ 34 ^ 35 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 36a · 36b ^ 37a · 37b · 37c ^ 38a · 38b ^ 39 ^ 40 ^ 41 ^ 42 ^ 43a · 43b · 43c ^ 44a · 44b ^ 45 ^ 46 ^ 47 ^ 48 ^ 49a · 49b ^ 50
    SP1:                                                                                                                                          
    SP2:                                                                                                                                          
    SP3:                                            -     -                                                                                       
    SP4:                                                                                                              -                           
    SP5:                                                                                                                                          


    ECgene alternative splicing isoforms for CABIN1

    (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

    CABIN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAAGGTGGA
    CABIN1 Expression
    About this image


    See CABIN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CABIN1

    SOURCE GeneReport for Unigene cluster: Hs.517478

    UniProtKB/Swiss-Prot: CABIN_HUMAN, Q9Y6J0
    Tissue specificity: Widely expressed in different tissues

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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 chordates.

    Orthologs for CABIN1 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cabin11 , 5 calcineurin binding protein 11, 5 86.95(n)1
    90.07(a)1
      10 (38.56 cM)5
    1042481  NM_172549.31  NP_766137.21 
     756461105 
    chicken
    (Gallus gallus)
    Aves CABIN11 calcineurin binding protein 1 71.99(n)
    76.94(a)
      416938  XM_415231.3  XP_415231.3 
    lizard
    (Anolis carolinensis)
    Reptilia CABIN16
    Uncharacterized protein
    62(a)
    1 ↔ 1
    GL343417.1(8636-29177)
    zebrafish
    (Danio rerio)
    Actinopterygii cabin11 calcineurin binding protein 1 61.96(n)
    58.52(a)
      571383  XM_694965.5  XP_700057.5 


    ENSEMBL Gene Tree for CABIN1 (if available)
    TreeFam Gene Tree for CABIN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CABIN1 gene
    1 SIMAP similar gene for CABIN1 using alignment to 6 protein entries:     CABIN_HUMAN (see all proteins):
    DKFZp762G2015

    CABIN1 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

    10/3044 SNPs in CABIN1 are shown (see all 3044)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1914519811,2
    --8328469(+) AACACC/TTTTGA 2 -- us2k10--------
    rs1836095151,2
    --8328548(+) GTCCTA/TTGTAT 3 -- us2k10--------
    rs1497947251,2
    --8328606(+) TACACA/GGTGGG 3 -- us2k10--------
    rs1876197601,2
    --8328649(+) TTGGAC/TGTGCT 3 -- us2k10--------
    rs733996511,2
    C,F--8328762(+) ACCAGT/CCAGTA 3 -- us2k12Minor allele frequency- C:0.13WA 120
    rs1440811441,2
    C--8328805(+) TGACCC/TAGCCT 3 -- us2k10--------
    rs1925006651,2
    --8328927(+) TGGTCA/GTGAGA 3 -- us2k10--------
    rs1405037291,2
    --8328952(+) TGATAC/TCCCAC 3 -- us2k10--------
    rs1835325191,2
    --8329114(+) ACACTC/TCAGCA 3 -- us2k10--------
    rs775544131,2
    C,F--8329142(+) ACCTCC/TGGACC 3 -- us2k11Minor allele frequency- T:0.01NA 120

    HapMap Linkage Disequilibrium report for CABIN1 (24407642 - 24574596 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/23 variations for CABIN1 (see all 23):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2724041CNV Deletion23290073
    esv2724067CNV Deletion23290073
    esv1201518CNV Insertion17803354
    nsv508730CNV Insertion20534489
    nsv914632CNV Loss21882294
    nsv914630CNV Loss21882294
    nsv483072CNV Loss15286789
    nsv9881CNV Loss18304495
    nsv528842CNV Loss19592680
    nsv3578CNV Loss18451855


    Human Gene Mutation Database (HGMD): CABIN1
    SABiosciences Cancer Mutation PCR Assays
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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: 604251    OMIM disorders: --

    20/39 diseases for CABIN1 (see all 39):    About MalaCards
    lymphocele    arteriolosclerosis    pain disorder    adult-onset still's disease
    invasive aspergillosis    thrombotic thrombocytopenic purpura    purpura    aspergillosis
    focal segmental glomerulosclerosis    proteinuria    hemolytic-uremic syndrome    osteonecrosis
    bronchiolitis obliterans    paine syndrome    bronchiolitis    cholestasis
    glomerulonephritis    kaposi's sarcoma    nephritis    hyperglycemia

    11 diseases from the University of Copenhagen DISEASES database for CABIN1:
    Kidney failure     Proteinuria     Thrombotic thrombocytopenic purpura     Hypertension
    Lymphocele     Pain disorder     Atopic dermatitis     Diabetes mellitus
    Bronchiolitis obliterans     Liver disease     Nephritis

    CABIN1 for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for CABIN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    purpura thrombotic thrombocytopenic 44.3 2 18671673 (1), 18398793 (1)
    renal disease 42.2 5 15919481 (2), 17112881 (1), 12883183 (1), 18585837 (1)
    proteinuria 39.1 3 17900463 (2), 16975081 (1)
    cmv infection 37.7 1 18202507 (1)
    renal failure 37.2 6 11558493 (2), 17262720 (2), 19923086 (1), 15780099 (1)
    hypertension arterial 0.113 1 17333201 (1)
    atherosclerosis 0 1 18202507 (1)
    histopathology 0 1 16932468 (1)
    edema 0 1 17199798 (1)

    Genetic Association Database (GAD): CABIN1
    Human Genome Epidemiology (HuGE) Navigator: CABIN1 (7 documents)

    Export disorders for CABIN1 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 CABIN1 gene, integrated from 9 sources (see all 136):
    (articles sorted by number of sources associating them with CABIN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cabin 1, a negative regulator for calcineurin signaling in T lymphocytes. (PubMed id 9655484)1, 2, 3 Sun L.... Liu J.O. (1998)
    2. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)1, 2, 3 Nagase T.... Ohara O. (1997)
    3. Sequence-specific recruitment of transcriptional co-repressor Cabin1 by myocyte enhancer factor-2. (PubMed id 12700764)1, 2, 9 Han A.... Chen L. (2003)
    4. A case-control association analysis of CABIN1 with sc hizophrenia in a Japanese population. (PubMed id 20075944)1, 4 Watanabe Y....Someya T. (2010)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    6. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    7. Secreted protein acidic and rich in cysteine (SPARC) gene polymorphism association with hepatocellular carcinoma in Italian patients . (PubMed id 19817957)1, 4 Segat L....Crovella S. (2009)
    8. Genetic variations in humans associated with differences in the course of hepatitis C. (PubMed id 15063762)1, 4 Saito T....Kawata S. (2004)
    9. Histone H3.1 and H3.3 complexes mediate nucleosome assembly pathways dependent or independent of DNA synthesis. (PubMed id 14718166)1, 2 Tagami H.... Nakatani Y. (2004)
    10. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)

    (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: 23523 HGNC: 24187 AceView: CABIN1 Ensembl:ENSG00000099991 euGenes: HUgn23523
    ECgene: CABIN1 H-InvDB: CABIN1

    (According to HUGE)
    About This Section
    HUGE: KIAA0330

    (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 CABIN1 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 CABIN1 gene:
    Search GeneIP for patents involving CABIN1

    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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