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

CHN1 Gene

protein-coding   GIFtS: 68
GCID: GC02M175664

Chimerin 1

(Previous names: Duane retraction syndrome 2, chimerin (chimaerin) 1)
(Previous symbols: CHN, DURS2)
  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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Chimerin 11 2     2)1
CHN1 2 3 5     Chimerin 1 (GTPase-Activating Protein1
DURS21 2 5     Duane Retraction Syndrome 21
ARHGAP22 3 5     rho1
Chimerin (Chimaerin) 11 2     N-chimaerin2
Chimaerin 11 2     a2-chimaerin2
A-chimaerin2 3     alpha-chimerin2
NC2 3     n-chimerin2
Rho GTPase-Activating Protein 22 3     Alpha-chimerin3
RHOGAP22 5     N-chimerin3

External Ids:    HGNC: 19431   Entrez Gene: 11232   Ensembl: ENSG000001286567   OMIM: 1184235   UniProtKB: P158823   
ORGUL members:         
NONCODE14:n410723      

Export aliases for CHN1 gene to outside databases

Previous GC identifers: GC02M173716 GC02M174325 GC02M175628 GC02M175866 GC02M175489 GC02M175372 GC02M167544


(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 CHN1 Gene:
This gene encodes GTPase-activating protein for ras-related p21-rac and a phorbol ester receptor. It is
predominantly expressed in neurons, and plays an important role in neuronal signal-transduction mechanisms.
Mutations in this gene are associated with Duane's retraction syndrome 2 (DURS2). Alternatively spliced
transcript variants encoding different isoforms have been described for this gene. (provided by RefSeq, Apr 2011)

GeneCards Summary for CHN1 Gene: 
CHN1 (chimerin 1) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with CHN1 include duane retraction syndrome, and duane syndrome type 2, and among its related super-pathways are Signaling by Rho GTPases and Signaling by GPCR. GO annotations related to this gene include ephrin receptor binding and GTPase activator activity. An important paralog of this gene is ARHGAP21.

UniProtKB/Swiss-Prot: CHIN_HUMAN, P15882
Function: GTPase-activating protein for p21-rac and a phorbol ester receptor. Involved in the assembly of neuronal
locomotor circuits as a direct effector of EPHA4 in axon guidance




(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_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CHN1 gene promoter:
         AML1a   CUTL1   POU6F1 (c2)   POU3F2   NF-AT   POU2F1   POU2F1a   c-Myb   NF-AT1   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CHN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CHN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHN1


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

Entrez Gene cytogenetic band: 2q31.1   Ensembl cytogenetic band:  2q31.1   HGNC cytogenetic band: 2q31-q32.1

CHN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHN1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M175664:  view genomic region     (about GC identifiers)

Start:
175,664,042 bp from pter      End:
175,870,107 bp from pter
Size:
206,066 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: CHIN_HUMAN, P15882 (See protein sequence)
Recommended Name: N-chimaerin  
Size: 459 amino acids; 53172 Da
Subunit: Interacts with EPHA4; effector of EPHA4 in axon guidance linking EPHA4 activation to RAC1 regulation (By
similarity)
Developmental stage: Increases in amount during brain development coincident with synaptogenesis
Sequence caution: Sequence=CAA35769.1; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for CHN1:
2OSA (3D)        3CXL (3D)    
Secondary accessions: A8K1M6 B3KNU6 B4DV19 Q53SD6 Q53SH5 Q96FB0
Alternative splicing: 3 isoforms:  P15882-1   P15882-2   P15882-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CHN1: NX_P15882

Explore proteomics data for CHN1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated. Phosphorylation is EPHA4 kinase activity-dependent (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P15882

  • CHN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CHN1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001020372.2  NP_001193531.1  NP_001813.1  

    ENSEMBL proteins: 
     ENSP00000386741   ENSP00000295497   ENSP00000386469   ENSP00000386470   ENSP00000386322  
     ENSP00000411911   ENSP00000410496   ENSP00000409798   ENSP00000405270   ENSP00000392603  
     ENSP00000416316  
    Reactome Protein details: P15882
    Human Recombinant Protein Products for CHN1: 
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    Novus Biologicals CHN1 Proteins
    Novus Biologicals CHN1 Lysates
    Sino Biological Recombinant Protein for CHN1
    Sino Biological Cell Lysate for CHN1 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CHN1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005829cytosol TAS--

    CHN1 for ontologies           About GeneDecksing



    CHN1 Antibody Products: 
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    Cloud-Clone Corp. CLIAs for CHN1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SH2D: SH2 domain containing
    ARHGAP: Rho GTPase activating proteins

    5/6 InterPro protein domains (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 P15882

    ProtoNet protein and cluster: P15882

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


    UniProtKB/Swiss-Prot: CHIN_HUMAN, P15882
    Similarity: Contains 1 phorbol-ester/DAG-type zinc finger
    Similarity: Contains 1 Rho-GAP domain
    Similarity: Contains 1 SH2 domain


    CHN1 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: CHIN_HUMAN, P15882
    Function: GTPase-activating protein for p21-rac and a phorbol ester receptor. Involved in the assembly of neuronal
    locomotor circuits as a direct effector of EPHA4 in axon guidance

         Genatlas biochemistry entry for CHN1:
    n-chimerin,brain GTPase activating protein for the ras-related p21rac,with two alternatively spliced
    isoforms,alpha 1,alpha 2,45kDa,expressed in cerebellum

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005070SH3/SH2 adaptor activity TAS8336731
    GO:0005096GTPase activator activity IEA--
    GO:0005515protein binding ----
    GO:0046872metal ion binding IEA--
    GO:0046875ephrin receptor binding IEA--
         
    CHN1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CHN1:
     Synthetic lethal with Ras 

         5 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Chn1):
     behavior/neurological  cellular  growth/size  muscle  nervous system 

    CHN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CHN1: Chn1tm1.1Ito Chn1tm1.1Abet

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CHN1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CHN1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CHN1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CHN1 

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate CHN1:
    hsa-miR-205 hsa-miR-3607-3p hsa-miR-452*
    SwitchGear 3'UTR luciferase reporter plasmidCHN1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHN1


    (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 CHN1 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Rho GTPase cycle
    Signaling by Rho GTPases1.00
    Rho GTPase cycle1.00
    2Signaling by GPCR
    Signal Transduction0.55
    3Actin Nucleation by ARP-WASP Complex
    RhoA Pathway0.35
    4Fc-GammaR-Mediated Phagocytosis in Macrophages
    RhoGDI Pathway0.33
    5G12-G13 in Cellular Signaling
    G12-G13 in Cellular Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CHN1
        RhoA Pathway
    G12-G13 in Cellular Signaling
    RhoGDI Pathway

    1 BioSystems Pathway for CHN1
        Regulation of RAC1 activity


    3        Reactome Pathways for CHN1
        Signaling by Rho GTPases
    Signal Transduction
    Rho GTPase cycle



    CHN1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CHN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/18 Interacting proteins for CHN1 (P158822, 3 ENSP000003867414) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ERBB2P046262, 3, ENSP000002695714MINT-74489 I2D: score=1 STRING: ENSP00000269571
    RPS3AP612472, 3MINT-63479 I2D: score=4 
    MAPK8IP2Q133872, 3MINT-8262440 I2D: score=2 
    GTF3C1Q127892, 3, ENSP000003485104MINT-63480 I2D: score=5 STRING: ENSP00000348510
    ACVR1Q047713, ENSP000002636404I2D: score=2 STRING: ENSP00000263640
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction ----
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0008045motor neuron axon guidance ISS--
    GO:0032314regulation of Rac GTPase activity IEA--
    GO:0035556intracellular signal transduction ----

    CHN1 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

    CHN1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for CHN1 (CHIN)

    10/843 HMDB Compounds for CHN1 (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)----

    6 Novoseek inferred chemical compound relationships for CHN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gtp 47.5 1 1903516 (1)
    phosphatidylserine 35.2 3 8496137 (1)
    phospholipid 29.4 6 1660266 (2), 8496137 (1), 7518459 (1)
    cysteine 11.2 7 1660266 (4), 2268301 (1)
    zinc 10.2 4 7518459 (2), 1660266 (1)
    lipid 0 3 1426585 (1), 7518459 (1)

    Search CenterWatch for drugs/clinical trials and news about CHN1 / CHIN

    (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 CHN1 gene (3 alternative transcripts): 
    NM_001025201.3  NM_001206602.1  NM_001822.5  

    Unigene Cluster for CHN1:

    Chimerin 1
    Hs.380138  [show with all ESTs]
    Unigene Representative Sequence: NM_001822
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409900(uc002uji.3 uc010zeq.2) ENST00000295497(uc002ujg.3)
    ENST00000488080(uc002ujj.3) ENST00000409597 ENST00000492964 ENST00000409156
    ENST00000409089 ENST00000444394 ENST00000413882 ENST00000443238 ENST00000491801
    ENST00000425395 ENST00000485882 ENST00000444573 ENST00000481174 ENST00000490654
    ENST00000469597 ENST00000451799
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    Additional mRNA sequence: 

    AB209788.1 AK055060.1 AK289941.1 AK300890.1 BC011393.1 CR456864.1 NR_038133.1 X51408.1 
    Z22641.1 

    24/30 DOTS entries (see all 30):

    DT.100816113  DT.92439287  DT.120968725  DT.102830436  DT.95132179  DT.95231009  DT.100816102  DT.217692 
    DT.95233368  DT.92400261  DT.87077135  DT.100816111  DT.120968672  DT.120968689  DT.40189105  DT.92439284 
    DT.100744641  DT.100816110  DT.101961990  DT.120968499  DT.120968570  DT.120968582  DT.120968656  DT.120968713 

    24/269 AceView cDNA sequences (see all 269):

    CB146349 AA211044 AA774795 CR603631 AA868308 AA399010 BE737572 BP347613 
    BM991791 AA604880 N80721 CD612881 BE550694 BU689542 CD106893 BX422993 
    AK055060 BF196742 BM717408 F13053 AI475503 N71266 BF940950 AI373459 

    GeneLoc Exon Structure

    5/14 Alternative Splicing Database (ASD) splice patterns (SP) for CHN1 (see all 14)    About this scheme

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

    ExUns: 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b · 22c · 22d
    SP1:        -     -                                 
    SP2:        -     -                                 
    SP3:        -     -                                 
    SP4:        -     -                                 
    SP5:                                                


    ECgene alternative splicing isoforms for CHN1

    (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

    CHN1 expression in normal human tissues (normalized intensities)      CHN1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGTTTATTAA
    CHN1 Expression
    About this image


    CHN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/15 selected tissues (see all 15) fully expand
     
     Brain (Nervous System)    fully expand to see all 18 entries
             Thalamus
             nerve/cranial   
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Telencephalon
             brain/forebrain/diencephalon   
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 4D20.8, NCr-fac Progenitor
     
     Gut Tube (Gastrointestinal Tract)
             Pharynx
     
     Bone (Muscoskeletal System)
             HyStem+TGFbeta3+GDF5-induced SK11 cells

    See CHN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CHN1

    SOURCE GeneReport for Unigene cluster: Hs.380138

    UniProtKB/Swiss-Prot: CHIN_HUMAN, P15882
    Tissue specificity: In neurons in brain regions that are involved in learning and memory processes

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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 CHN1 gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chn11 , 5 chimerin (chimaerin) 11, 5 92.16(n)1
    96.3(a)1
      2 (43.78 cM)5
    1086991  NM_001113246.21  NP_001106717.21 
     736106605 
    chicken
    (Gallus gallus)
    Aves CHN11 chimerin (chimaerin) 1 86.2(n)
    94.99(a)
      429021  NM_001012952.1  NP_001012970.1 
    lizard
    (Anolis carolinensis)
    Reptilia CHN16
    Uncharacterized protein
    82(a)
    1 ↔ 1
    GL343377.1(639649-697219)
    African clawed frog
    (Xenopus laevis)
    Amphibia chn1-prov2 chimerin (chimaerin) 1 80.39(n)    BC056112.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj59f022 Danio rerio mRNA similar to chimerin (chimaerin) 1 more 76.82(n)    BC047837.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta RhoGAP5A1 , 3 diacylglycerol binding3
    CG3208-PA1
    40(a)3
    51.81(n)1
    44.58(a)1
      5A83
    314731  NM_167040.31  NP_727007.11 


    ENSEMBL Gene Tree for CHN1 (if available)
    TreeFam Gene Tree for CHN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CHN1 gene
    ARHGAP212  ARHGAP272  ARHGAP322  ARHGAP102  CHN22  ARHGAP232  ARHGAP332  ARHGAP92  
    ARHGAP262  ARHGAP302  ARHGAP152  ARHGAP122  OPHN12  ARHGAP422  ARHGAP312  
    18/30 SIMAP similar genes for CHN1 using alignment to 11 protein entries:     CHIN_HUMAN (see all proteins) (see all similar genes):
    CHN2-3    CHN2    OPHN1    ARHGAP27    ARHGAP12    ARHGAP10
    ARHGAP24    ARHGAP26    ARHGAP5    ARHGAP15    ARHGAP42    PRKD1
    ARHGAP31    ARHGAP35    ABR    BCR    RICS    SNX26

    CHN1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CHN1
    PGOHUM00000259962


    (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

    10/3866 SNPs in CHN1 are shown (see all 3866)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0479454
    Duane retraction syndrome 2 (DURS2)4--see VAR_0479452 P Q mis40--------
    VAR_0479434
    Duane retraction syndrome 2 (DURS2)4--see VAR_0479432 A V mis40--------
    VAR_0479404
    Duane retraction syndrome 2 (DURS2)4--see VAR_0479402 L F mis40--------
    VAR_0479444
    Duane retraction syndrome 2 (DURS2)4--see VAR_0479442 G S mis40--------
    VAR_0479414
    Duane retraction syndrome 2 (DURS2)4--see VAR_0479412 I M mis40--------
    VAR_0479464
    Duane retraction syndrome 2 (DURS2)4--see VAR_0479462 E K mis40--------
    VAR_0479424
    Duane retraction syndrome 2 (DURS2)4--see VAR_0479422 Y H mis40--------
    rs664807161,2
    C--167545040(+) GAAAA-/AAGT  
            
    AAGCT
    4 -- ut31 nc-transcript-variant0--------
    rs38362011,2
    C--167545043(+) AAAAG-/TAAG  
            
    CTATC
    4 -- ut31 nc-transcript-variant0--------
    rs1873707511,2
    --167548599(+) ACTTGA/GGAAGC 4 -- int10--------

    HapMap Linkage Disequilibrium report for CHN1 (175664042 - 175870107 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CHN1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2664753CNV Deletion23128226
    esv272789CNV Insertion20981092
    esv269368CNV Insertion20981092
    nsv821797CNV Loss20364138
    nsv875433CNV Loss21882294
    nsv875432CNV Loss21882294


    Human Gene Mutation Database (HGMD): CHN1
    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 118423   
    OMIM disorders: 604356  
    UniProtKB/Swiss-Prot: CHIN_HUMAN, P15882
  • Duane retraction syndrome 2 (DURS2) [MIM:604356]: Duane retraction syndrome is a congenital eye movement
    disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in
    restriction or absence of abduction, adduction, or both, and narrowing of the palpebral fissure and retraction of
    the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable
    loss of vision. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 10 diseases for CHN1:    About MalaCards
    duane retraction syndrome    duane syndrome type 2    amblyopia    hyperopia
    conduct disorder    strabismus    myotonic dystrophy    neuronitis
    neuroblastoma    prostatitis

    1 disease from the University of Copenhagen DISEASES database for CHN1:
    Hyperopia

    CHN1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CHN1
    Human Genome Epidemiology (HuGE) Navigator: CHN1 (2 documents)

    Export disorders for CHN1 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 CHN1 gene, integrated from 9 sources (see all 52):
    (articles sorted by number of sources associating them with CHN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel human brain cDNA encoding a 34,000 Mr protein n-chimaerin, related to both the regulatory domain of protein kinase C and BCR, the product of the breakpoint cluster region gene. (PubMed id 2299665)1, 2, 3, 9 Hall C.... Lim L. (1990)
    2. Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. (PubMed id 18653847)1, 2, 3 Miyake N.... Engle E.C. (2008)
    3. Developmental regulation and neuronal expression of the mRNA of rat n-chimaerin, a p21rac GAP:cDNA sequence. (PubMed id 1445199)1, 2, 9 Lim H.H.... Hall C. (1992)
    4. Human brain n-chimaerin cDNA encodes a novel phorbol ester receptor. (PubMed id 2268301)1, 2, 9 Ahmed S.... Lim L. (1990)
    5. Alpha 2-chimerin, an SH2-containing GTPase-activating protein for the ras-related protein p21rac derived by alternate splicing of the human n-chimerin gene, is selectively expressed in brain regions and testes. (PubMed id 8336731)1, 2, 9 Hall C.... Lim L. (1993)
    6. Evidence for genes on chromosome 2 contributing to al cohol dependence with conduct disorder and suicide attempts. (PubMed id 20468071)1, 4 Dick D.M....Bierut L. (2010)
    7. 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)
    8. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    9. Alpha-chimaerin exists in a functional complex with the Cdk5 kinase in brain. (PubMed id 15013773)1, 3 Qi R.Z....Wang J.H. (2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    (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: 1123 HGNC: 1943 AceView: CHN1 Ensembl:ENSG00000128656 euGenes: HUgn1123
    ECgene: CHN1 H-InvDB: CHN1

    (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 CHN1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CHN1 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 CHN1 gene:
    Search GeneIP for patents involving CHN1

    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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