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

CHN2 Gene

protein-coding   GIFtS: 62
GCID: GC07P029186

chimerin 2

(Previous name: chimerin (chimaerin) 2 )
 Explore 11 diseases affiliated with
CHN2 via our new
 Human Malady Compendium 
Biological research products
for CHN2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Chimerin 21 2     Beta-Chimaerin1
ARHGAP31 2 3 5     Beta-Chimerin1
Chimerin (Chimaerin) 21 2     Beta3-Chimaerin1
BCH2 3     Chimaerin 22
RHOGAP32 5     Rho-GTPase-Activating Protein 32
RhoGAP31     Beta-Chimerin1
CHN2-32     Rho GTPase-Activating Protein 33

External Ids:    HGNC: 19441   Entrez Gene: 11242   Ensembl: ENSG000001060697   OMIM: 6028575   UniProtKB: P527573   

Export aliases for CHN2 gene to outside databases

Previous GC identifers: GC07P028876 GC07P028976 GC07P029007 GC07P029200 GC07P029115


(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 CHN2:
This gene is a member of the chimerin family and encodes a protein with a phorbol-ester/DAG-type zinc finger, a Rho-GAP
domain and an SH2 domain. This protein has GTPase-activating protein activity that is regulated by phospholipid
binding and binding of diacylglycerol (DAG) induces translocation of the protein from the cytosol to the Golgi
apparatus membrane. The protein plays a role in the proliferation and migration of smooth muscle cells. Decreased
expression of this gene is associated with high-grade gliomas and breast tumors, and increased expression of this gene
is associated with lymphomas. Mutations in this gene have been associated with schizophrenia in men. Alternate
transcriptional splice variants, encoding different isoforms, have been characterized. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CHIO_HUMAN, P52757
Function: GTPase-activating protein for p21-rac. Insufficient expression of beta-2 chimaerin is expected to lead to
higher Rac activity and could therefore play a role in the progression from low-grade to high-grade tumors

Gene Wiki entry for CHN2 (Chimerin 2)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CHN2 gene promoter:
         HFH-3   GR   GR-beta   RelA   FOXI1   AREB6   GR-alpha   Meis-1a   TGIF   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): CHN2 promoter sequence
   Search SABiosciences Chromatin IP Primers for CHN2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHN2


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

Entrez Gene cytogenetic band: 7p15.3   Ensembl cytogenetic band:  7p14.3   HGNC cytogenetic band: 7p15.3

CHN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHN2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P029186:  view genomic region     (about GC identifiers)

Start:
29,161,956 bp from pter      End:
29,553,944 bp from pter
Size:
391,989 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 29,284,296-29,604,159     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CHIO_HUMAN, P52757 (See protein sequence)
Recommended Name: Beta-chimaerin  
Size: 468 amino acids; 53924 Da
Subcellular location: Membrane; Peripheral membrane protein (Potential)
1 PDB 3D structure from and Proteopedia for CHN2:
1XA6 (3D)    
Secondary accessions: E9PGE0 Q2M203 Q75MM2
Alternative splicing: 3 isoforms:  P52757-1   P52757-2   P52757-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CHN2: NX_P52757

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P52757

  • CHN2 Protein expression data from MOPED and PaxDb:    About this image 
    CHN2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001035025.1  NP_004058.1  

    ENSEMBL proteins: 
     ENSP00000462650   ENSP00000409843   ENSP00000441183   ENSP00000222792   ENSP00000386968  
     ENSP00000396867   ENSP00000398326   ENSP00000444063   ENSP00000400282   ENSP00000438587  
     ENSP00000440526   ENSP00000442812   ENSP00000386849   ENSP00000406337   ENSP00000387425  
     ENSP00000394284  
    Reactome Protein details: P52757
    Human Recombinant Protein Products for CHN2: 
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    Uscn Proteins for CHN2

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005829cytosol TAS--
    GO:0016020membrane IEA--

    CHN2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CHN2 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR020454 DAG/PE-bd
     IPR008936 Rho_GTPase_activation_prot
     IPR002219 Prot_Kinase_C-like_PE/DAG-bd
     IPR000980 SH2
     IPR017356 N-chimaerin

    Graphical View of Domain Structure for InterPro Entry P52757

    ProtoNet protein and cluster: P52757

    3 Blocks protein families:
    IPB000198 RhoGAP domain
    IPB000980 SH2 domain signature
    IPB002219 Protein kinase C


    UniProtKB/Swiss-Prot: CHIO_HUMAN, P52757
    Similarity: Contains 1 phorbol-ester/DAG-type zinc finger
    Similarity: Contains 1 Rho-GAP domain
    Similarity: Contains 1 SH2 domain


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CHIO_HUMAN, P52757
    Function: GTPase-activating protein for p21-rac. Insufficient expression of beta-2 chimaerin is expected to lead to
    higher Rac activity and could therefore play a role in the progression from low-grade to high-grade tumors
    Enzyme regulation: In the inactive state, the N terminus protrudes into the active site of the Rho-GAP domain,
    sterically blocking Rac binding. Phospholipid binding to the Phorbol-ester/DAG-type zinc-finger/C1 domain triggers the
    cooperative dissociation of these interactions, allowing the N-terminus to move out of the active site and thereby
    activating the enzyme

         Genatlas biochemistry entry for CHN2:
    chimerin beta-2,GTPase activating protein for the ras-related p21rac,DAG (diacylglycerol) receptor,expressed in
    cerebellum,homolog to CHN1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005070SH3/SH2 adaptor activity TAS8175705
    GO:0005096GTPase activator activity IEA--
    GO:0030675Rac GTPase activator activity ----
    GO:0046872metal ion binding IEA--
         
    CHN2 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Chn2):
     cellular  nervous system 

    CHN2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CHN2 

    miRNA
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    8/29 QIAGEN miScript miRNA Assays for microRNAs that regulate CHN2 (see all 29):
    hsa-miR-217 hsa-miR-302d hsa-miR-520e hsa-miR-520d-5p hsa-miR-429 hsa-miR-202 hsa-miR-302e hsa-miR-374c
    SwitchGear 3'UTR luciferase reporter plasmidCHN2 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHN2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/10 super-pathways (see all 10About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1G-protein signaling Regulation of RAC1 activity
    G-protein signaling Regulation of RAC1 activity1.00
    G-protein signaling Regulation of CDC42 activity0.25
    G-protein signaling_Regulation of RAC1 activity0.88
    G-protein signaling_Regulation of CDC42 activity0.25
    2Cell death signalling via NRAGE, NRIF and NADE
    Rho GTPase cycle0.25
    Signaling by Rho GTPases0.25
    3Neuroscience
    Neuroscience1.00
    4Cytoskeletal Signaling
    Cytoskeletal Signaling1.00
    5G12-G13 in Cellular Signaling
    G12-G13 in Cellular Signaling1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for CHN2
        G-protein signaling Regulation of CDC42 activity
    G-protein signaling Regulation of RAC1 activity

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CHN2
        RhoA Pathway
    G12-G13 in Cellular Signaling
    RhoGDI Pathway

    2 Cell Signaling Technology (CST) Pathways for CHN2
        Neuroscience
    Cytoskeletal Signaling

    2 GeneGo (Thomson Reuters) Pathways for CHN2
        G-protein signaling Regulation of RAC1 activity
    G-protein signaling Regulation of CDC42 activity

    2 BioSystems Pathways for CHN2 
        Regulation of RAC1 activity
    ErbB1 downstream signaling

    3        Reactome Pathways for CHN2
        Signaling by Rho GTPases
    Signal Transduction
    Rho GTPase cycle



    CHN2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CHN2

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

    5/92 Interacting proteins for CHN2 (P527572, 3 ENSP000002227924) via UniProtKB, MINT, STRING, and/or I2D (see all 92)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BAG6P463792, 3MINT-63864 I2D: score=5 
    NCK1P163332, 3MINT-19584 I2D: score=2 
    RAC1P630002, 3, ENSP000003484614MINT-2490402 MINT-2490642 MINT-2490281 MINT-2489914 I2D: score=2 STRING: ENSP00000348461
    ERBB3P218602, 3, ENSP000002671014MINT-74490 I2D: score=2 STRING: ENSP00000267101
    EIF3CQ996133I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001675acrosome assembly ----
    GO:0007165signal transduction ----
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0032855positive regulation of Rac GTPase activity ----
    GO:0035556intracellular signal transduction ----

    CHN2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 CHN2

    10/843 HMDB Compounds for CHN2 (see all 843)    About this table
    CompoundSynonyms CAS #PubMed Ids
    DG(14:0/14:0/0:0)DAG(14:0/14:0) (see all 9)----
    DG(14:0/14:1(9Z)/0:0)DAG(14:0/14:1) (see all 15)----
    DG(14:0/15:0/0:0)Diacylglycerol(29:0) (see all 9)----
    DG(14:0/16:0/0:0)DAG(30:0) (see all 9)----
    DG(14:0/16:1(9Z)/0:0)DG(30:1) (see all 15)----
    DG(14:0/18:0/0:0)DG(14:0/18:0) (see all 9)----
    DG(14:0/18:1(11Z)/0:0)Diacylglycerol (see all 15)----
    DG(14:0/18:1(9Z)/0:0)1-myristoyl-2-oleoyl-sn-glycerol (see all 15)----
    DG(14:0/18:2(9Z,12Z)/0:0)DAG(14:0/18:2n6) (see all 15)----
    DG(14:0/18:3(6Z,9Z,12Z)/0:0)Diacylglycerol(14:0/18:3n6) (see all 16)----
    Search CenterWatch for drugs/clinical trials and news about CHN2 / CHIO 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CHN2 gene (2 alternative transcripts): 
    NM_001039936.1  NM_004067.2  

    Unigene Clusters for CHN2:

    Chimerin 2
    Hs.654611  [show with all ESTs], Hs.654753  [show with all ESTs], Hs.663145  [show with all ESTs]
    Unigene Representative Sequences: AK126784, AK123927, CB155970
    18/33 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 33):
    ENST00000582692 ENST00000578605 ENST00000443025 ENST00000588769 ENST00000423511
    ENST00000439384 ENST00000461824 ENST00000474070 ENST00000470261 ENST00000222792(uc011jzs.2 uc003szz.3 uc010kva.3 uc010kvb.3 uc010kvc.3 uc011jzt.2 uc010kvd.3 uc011jzu.2)
    ENST00000409350 ENST00000409964 ENST00000409922 ENST00000412536 ENST00000478128
    ENST00000482820 ENST00000483081 ENST00000491856

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    8/29 QIAGEN miScript miRNA Assays for microRNAs that regulate CHN2 (see all 29):
    hsa-miR-217 hsa-miR-302d hsa-miR-520e hsa-miR-520d-5p hsa-miR-429 hsa-miR-202 hsa-miR-302e hsa-miR-374c
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    Additional cDNA sequence: AF147327.1 

    13 DOTS entries:

    DT.99933073  DT.75181758  DT.92466313  DT.85104379  DT.91937639  DT.95154187  DT.92056165  DT.100822444 
    DT.40290942  DT.99951317  DT.100701861  DT.121109341  DT.100738101 

    24/128 AceView cDNA sequences (see all 128):

    N64335 AI017379 F01480 AI301462 BF431785 BU743151 N64330 AI241398 
    AW955719 F05503 AI824491 F01481 F11279 F01769 BI830814 AA743572 
    BQ446523 AA910911 AW055148 AI453797 AA741256 AA910909 AW026309 AA680076 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for CHN2 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for CHN2

    (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

    CHN2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCAATGCCAA
    CHN2 Expression
    About this image

    CHN2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerMature Horizontal CellsHorizontal, Retina
    EyeInner Nuclear LayernGnG Amacrine CellsAmacrine, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Midbrain dopaminergic-like neurons (Generation of midbra...)
    Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)

    See CHN2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CHN2

    SOURCE GeneReport for Unigene clusters: Hs.654611 Hs.654753 Hs.663145

    UniProtKB/Swiss-Prot: CHIO_HUMAN, P52757
    Tissue specificity: Highest levels in the brain and pancreas. Also expressed in the heart, placenta, and weakly in the
    kidney and liver. Expression is much reduced in the malignant gliomas, compared to normal brain or low-grade
    astrocytomas

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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 CHN2 gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves CHN21 chimerin (chimaerin) 2 83.4(n)
    93.59(a)
      428437  XM_425997.3  XP_425997.2 
    lizard
    (Anolis carolinensis)
    Reptilia CHN26
    --
    90(a)
    1 ↔ 1
    GL343275.1(3939-107921)
    zebrafish
    (Danio rerio)
    Actinopterygii chn21 chimerin (chimaerin) 2 71.32(n)
    80.32(a)
      570999  XM_694550.5  XP_699642.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta RhoGAP5A3 diacylglycerol binding 39(a)   5A8   --
    worm
    (Caenorhabditis elegans)
    Secernentea BE0003N10.23
    chin-11
    Protein CHIN-11 43(a)3
    51.52(n)1
    43.55(a)1
      III(1108090-1109028)3
    1752681  NM_064922.41  NP_497323.31 


    ENSEMBL Gene Tree for CHN2 (if available)
    TreeFam Gene Tree for CHN2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CHN2 gene
    HMHA12  ARHGAP212  ARHGAP272  ARHGAP102  ARHGAP232  ARHGAP92  ARHGAP292  ARHGAP262  
    CHN12  ARHGAP152  ARHGAP122  OPHN12  GMIP2  ARHGAP422  
    18/28 SIMAP similar genes for CHN2 using alignment to 30 protein entries:     CHIO_HUMAN (see all proteins) (see all similar genes):
    LOC401318    CHN2-3    CHN1    ARHGAP44    OPHN1    PRKD1
    ARHGAP10    ARHGAP26    ARHGAP12    SH3BP1    ARHGAP42    ARHGAP5
    ARHGAP24    ARHGAP31    ARHGAP27    ARHGAP1    SRGAP2    MYO9A

    CHN2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/6031 NCBI SNPs in CHN2 are shown (see all 6031    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1809443821,2
    --29232290(+) ATAGCA/GTCTTA 1 -- us2k10--------
    rs1505526751,2
    --29232744(+) CCATAC/TAGTTG 1 -- us2k10--------
    rs1448280231,2
    --29232824(+) TTTTT-/AAAAAA 1 -- us2k10--------
    rs1395863061,2
    --29232928(+) ACTGTG/TATTAT 1 -- us2k10--------
    rs390491,2
    C,A,H--29232964(+) TAGGTG/CCTTGG 1 -- us2k1 tfbs311Minor allele frequency- C:0.01MN NA WA CSA EA 438
    rs2459231,2
    C,F,H--29232999(+) CTGCTG/ATTCTG 1 -- us2k116Minor allele frequency- A:0.10MN NS EA WA NA 2520
    rs1919932301,2
    --29233111(+) AGAGTA/GCTTTC 1 -- us2k10--------
    rs1834703991,2
    --29233173(+) TCACAG/TTTTTC 1 -- us2k10--------
    rs1862701191,2
    --29233316(+) CTCGAA/GTCTCT 1 -- us2k10--------
    rs38075991,2
    C,F,H--29233367(+) CAGTCG/AGACCT 1 -- us2k11Minor allele frequency- A:0.07EA 120

    HapMap Linkage Disequilibrium report for CHN2 (29161956 - 29411956 bp, first 250kb of CHN2)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for CHN2
         2 CNVs: 99905 6540
         4 Indels: 11297 40965 41978 47335

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

    CHN2 for disorders           About GeneDecksing

    OMIM gene information: 602857    OMIM disorders: --

    11 diseases for CHN2:    About MalaCards
    diffuse large b-cell lymphoma    schizophrenia    b-cell lymphomas    sleeping sickness
    insulin resistance    diabetic retinopathy    malignant glioma    nephropathy
    spasticity    astrocytoma    breast cancer

    Human Genome Epidemiology (HuGE) Navigator: CHN2 (7 documents)

    Export disorders for CHN2 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 CHN2 gene, integrated from 9 sources (see all 40):
    (articles sorted by number of sources associating them with CHN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cerebellar beta 2-chimaerin, a GTPase-activating protein for p21 ras- related rac is specifically expressed in granule cells and has a unique N-terminal SH2 domain. (PubMed id 8175705)1, 2, 3, 9 Leung T.... Lim L. (1994)
    2. Structural mechanism for lipid activation of the Rac-specific GAP, beta2-chimaerin. (PubMed id 15507211)1, 2 Canagarajah B....Hurley J.H. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. 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)
    5. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    6. Identification and characterization of human beta 2-chimaerin: association with malignant transformation in astrocytoma. (PubMed id 7614486)1, 2 Yuan S.... Williams B.R.G. (1995)
    7. Severe insulin resistance and intrauterine growth def iciency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism. (PubMed id 19720790)1, 9 Suliman S.G....Gloyn A.L. (2009)
    8. CPVL/CHN2 genetic variant is associated with diabetic retinopathy in Chinese type 2 diabetic patients. (PubMed id 21911749)1 Hu C....Jia W. (2011)
    9. Generalist genes analysis of DNA markers associated w ith mathematical ability and disability reveals shared influence across ages an d abilities. (PubMed id 20602751)1 Docherty S.J....Plomin R. (2010)
    10. A Bayesian approach to genetic association studies wi th family-based designs. (PubMed id 20818722)1 Naylor M.G....Lange C. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 1124 HGNC: 1944 AceView: CHN2 Ensembl:ENSG00000106069 euGenes: HUgn1124
    ECgene: CHN2 H-InvDB: CHN2

    (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 CHN2 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 CHN2 gene:
    Search GeneIP for patents involving CHN2

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



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