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OPHN1 Gene

protein-coding   GIFtS: 60
GCID: GC0XM067262

Oligophrenin 1

(Previous names: mental retardation, X-linked 60)
(Previous symbol: MRX60)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Oligophrenin 11 2     OPN12
MRX601 2 5     oligophrenin-12
Mental Retardation, X-Linked 601 2     Oligophrenin-1, Rho-GTPase Activating Protein2
ARHGAP412     

External Ids:    HGNC: 81481   Entrez Gene: 49832   Ensembl: ENSG000000794827   OMIM: 3001275   UniProtKB: O608903   

Export aliases for OPHN1 gene to outside databases

Previous GC identifers: GC0XM063483 GC0XM064728 GC0XM065495 GC0XM066129 GC0XM067045 GC0XM067178 GC0XM061092


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for OPHN1 Gene:
This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho
proteins are important mediators of intracellular signal transduction, which affects cell migration and cell
morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked mental retardation with
cerebellar hypoplasia and distinctive facial dysmorhphism. (provided by RefSeq, Jul 2008)

GeneCards Summary for OPHN1 Gene:
OPHN1 (oligophrenin 1) is a protein-coding gene. Diseases associated with OPHN1 include mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance, and cerebellar hypoplasia. GO annotations related to this gene include Rho GTPase activator activity and phospholipid binding. An important paralog of this gene is ARHGAP21.

UniProtKB/Swiss-Prot: OPHN1_HUMAN, O60890
Function: Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is
implicated in growth and stabilization of dendritic spines, and therefore in synaptic function. Critical for the
stabilization of AMPA receptors at postsynaptic sites. Critical for the regulation of synaptic vesicle
endocytosis at presynaptic terminals. Required for the localization of NR1D1 to dendrites, can suppress its
repressor activity and protect it from proteasomal degradation (By similarity)

Gene Wiki entry for OPHN1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NT_011651.18  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the OPHN1 gene promoter:
         GATA-3   MyoD   Lmo2   Nkx2-5   NF-AT   GATA-1   GATA-2   NF-AT2   IRF-7A   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOPHN1 promoter sequence
   Search Chromatin IP Primers for OPHN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OPHN1


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

Entrez Gene cytogenetic band: Xq12   Ensembl cytogenetic band:  Xq12   HGNC cytogenetic band: Xq12

OPHN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OPHN1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM067262:  view genomic region     (about GC identifiers)

Start:
67,262,186 bp from pter      End:
67,653,755 bp from pter
Size:
391,570 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: OPHN1_HUMAN, O60890 (See protein sequence)
Recommended Name: Oligophrenin-1  
Size: 802 amino acids; 91641 Da
Subunit: Interacts with HOMER1. Interacts with AMPA receptor complexes. Interacts with SH3GL2 (endophilin-A1) (By
similarity). Interacts (via C-terminus) with NR1D1 (By similarity)
Secondary accessions: B9EIP8 Q5JQ81 Q8WX47

Explore the universe of human proteins at neXtProt for OPHN1: NX_O60890

Explore proteomics data for OPHN1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See OPHN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002538.1  
    ENSEMBL proteins: 
     ENSP00000347710   ENSP00000438617  
    Reactome Protein details: O60890

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

    4 InterPro protein domains:
     IPR008936 Rho_GTPase_activation_prot
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom
     IPR000198 RhoGAP_dom

    Graphical View of Domain Structure for InterPro Entry O60890

    ProtoNet protein and cluster: O60890

    2 Blocks protein domains:
    IPB000198 RhoGAP domain
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: OPHN1_HUMAN, O60890
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 Rho-GAP domain


    OPHN1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: OPHN1_HUMAN, O60890
    Function: Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is
    implicated in growth and stabilization of dendritic spines, and therefore in synaptic function. Critical for the
    stabilization of AMPA receptors at postsynaptic sites. Critical for the regulation of synaptic vesicle
    endocytosis at presynaptic terminals. Required for the localization of NR1D1 to dendrites, can suppress its
    repressor activity and protect it from proteasomal degradation (By similarity)

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005096GTPase activator activity ----
    GO:0005100Rho GTPase activator activity IEA--
    GO:0005515protein binding ----
    GO:0005543phospholipid binding IDA18954304
         
    OPHN1 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ophn1):
     behavior/neurological  mortality/aging  nervous system 

    OPHN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ophn1tm1Bill for OPHN1

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    Selected qRT-PCR Assays for microRNAs that regulate OPHN1 (see all 33):
    hsa-miR-323-3p hsa-miR-3685 hsa-miR-513a-5p hsa-miR-128 hsa-miR-488 hsa-miR-570 hsa-miR-3658 hsa-miR-4330
    SwitchGear 3'UTR luciferase reporter plasmidOPHN1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat OPHN1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    OPHN1_HUMAN, O60890: Cell junction, synapse. Cell projection, axon. Cell projection, dendritic spine. Cell
    projection, dendrite (By similarity). Cytoplasm (By similarity). Note=Present in both presynaptic and
    postsynaptic sites (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    cytoskeleton2
    nucleus2
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005829cytosol TAS--
    GO:0015629actin cytoskeleton IEA--
    GO:0030054cell junction IEA--
    GO:0043195terminal bouton IEA--

    OPHN1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for OPHN1 About    
    See pathways by source

    SuperPathContained pathways About
    1Rho GTPase cycle
    Rho GTPase cycle1.00
    Signaling by Rho GTPases1.00
    2Signaling by GPCR
    Signal Transduction0.58
    3Regulation of RhoA activity
    Regulation of RhoA activity
    4Neuroscience
    Neuroscience

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for OPHN1
        Neuroscience

    1 BioSystems Pathway for OPHN1
        Regulation of RhoA activity

    1 Reactome Pathway for OPHN1
        Rho GTPase cycle



    OPHN1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for OPHN1
    Interactions:

        Search GeneGlobe Interaction Network for OPHN1

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

    Selected Interacting proteins for OPHN1 (O608903 ENSP000003477104) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RHOAP615863, ENSP000004001754I2D: score=2 STRING: ENSP00000400175
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    CDC42P609533, ENSP000003144584I2D: score=2 STRING: ENSP00000314458
    RAC1P630003, ENSP000003484614I2D: score=2 STRING: ENSP00000348461
    ARHGAP4ENSP000002037864STRING: ENSP00000203786
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006930substrate-dependent cell migration, cell extension TAS9582072
    GO:0007165signal transduction TAS9582072
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0007399nervous system development TAS9582072
    GO:0007411axon guidance TAS9582072

    OPHN1 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for OPHN1

    1 HMDB Compound for OPHN1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for OPHN1 gene: 
    NM_002547.2  

    Unigene Cluster for OPHN1:

    Oligophrenin 1
    Hs.128824  [show with all ESTs]
    Unigene Representative Sequence: NM_002547
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000355520(uc004dww.4 uc011mpg.2) ENST00000484842 ENST00000467444
    ENST00000486068 ENST00000491714 ENST00000540071(uc004dwx.3 uc010nku.1)

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    Selected qRT-PCR Assays for microRNAs that regulate OPHN1 (see all 33):
    hsa-miR-323-3p hsa-miR-3685 hsa-miR-513a-5p hsa-miR-128 hsa-miR-488 hsa-miR-570 hsa-miR-3658 hsa-miR-4330
    SwitchGear 3'UTR luciferase reporter plasmidOPHN1 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat OPHN1

    Additional mRNA sequence: 

    AB102656.1 AJ001189.1 AK130340.1 AK295769.1 AK309665.1 AK309696.1 BC059393.1 BC140763.1 

    8 DOTS entries:

    DT.115370  DT.202572  DT.100676949  DT.121309966  DT.95143726  DT.95342357  DT.100018949  DT.121309979 

    Selected AceView cDNA sequences (see all 50):

    CF529728 AA532382 AW572478 CB266029 AI400949 AB102656 CA390085 CB266700 
    BX641302 BQ011131 CR605867 BP337692 BP357826 BU621294 AA706097 BX427729 
    AW452191 BM542235 AW444450 BI861313 AI866744 AW131775 AL697889 BP358525 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    OPHN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGACTTTCAA
    OPHN1 Expression
    About this image


    OPHN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 19 entries
             Cerebral Cortex
             Olfactory Bulb   
     
     Heart (Cardiovascular System)
             Atrioventricular Node
     
     Spinal Cord (Nervous System)
    OPHN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OPHN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.128824

    UniProtKB/Swiss-Prot: OPHN1_HUMAN, O60890
    Tissue specificity: Expressed in brain

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    In Situ
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for OPHN1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ophn11 , 5 oligophrenin 11, 5 88.03(n)1
    91.77(a)1
      X (42.94 cM)5
    941901  NM_052976.31  NP_443208.11 
     985542775 
    chicken
    (Gallus gallus)
    Aves OPHN11 oligophrenin 1 79.1(n)
    89.91(a)
      422162  XM_420161.4  XP_420161.4 
    lizard
    (Anolis carolinensis)
    Reptilia OPHN16
    oligophrenin 1
    80(a)
    1 ↔ 1
    GL343465.1(371699-417489)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC688562 hypothetical protein MGC68856 75.18(n)    BC059290.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ophn16
    oligophrenin 1
    63(a)
    1 ↔ 1
    5(37300581-37361639) ENSDARG00000035420
    fruit fly
    (Drosophila melanogaster)
    Insecta Graf3 RAL interactor 38(a)   13E14   --
    worm
    (Caenorhabditis elegans)
    Secernentea T04C9.16
    Protein T04C9.1, isoform a (T04C9.1) mRNA, complet...
    29(a)
    1 → many
    III(5993217-6006367) WBGene00020209


    ENSEMBL Gene Tree for OPHN1 (if available)
    TreeFam Gene Tree for OPHN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for OPHN1 gene
    ARHGAP212  ARHGAP272  ARHGAP102  CHN22  ARHGAP232  ARHGAP92  CHN12  ARHGAP262  
    ARHGAP152  ARHGAP122  ARHGAP422  
    16 SIMAP similar genes for OPHN1 using alignment to 4 protein entries:     OPHN1_HUMAN (see all proteins):
    GRAF    ARHGAP42    CHN2    ARHGAP26    ARHGAP27    ARHGAP10
    ARHGAP12    CHN1    ARHGAP21    ARHGAP24    ARHGAP31    ARHGAP23
    HMHA1    DKFZp667D142    ARHGAP5    ARHGAP9

    OPHN1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for OPHN1
    PGOHUM00000240312 PGOHUM00000240907


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for OPHN1 (see all 4735)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1832928711,2
    --67269401(+) TCTTCC/TCCATT 1 -- ds50010--------
    rs27659521,2
    C,F,A,H--67269529(+) CTCAGC/TTCCCT 1 -- ds500117Minor allele frequency- T:0.45NS EA WA NA CSA 1982
    rs1876200421,2
    --67269746(+) CCTCAA/TTGATA 1 -- ds50010--------
    rs1906916381,2
    --67269961(+) AATGAA/CGGCTT 1 -- ut310--------
    rs1829274471,2
    --67269995(+) AAGGTA/GTCTTG 1 -- ut310--------
    rs1879873891,2
    --67270052(+) ATGCAC/GCCAAA 1 -- ut310--------
    rs78831841,2
    C,A--67270832(+) aaaaaG/AaaaaA 1 -- ut31 trp31Minor allele frequency- A:0.00NA 2
    rs580902781,2
    C--67270832(+) AAAAA-/GAAAAA 1 -- ut310--------
    rs1845109221,2
    C--67270839(+) AAAAAA/GAAAGA 1 -- ut310--------
    rs78882121,2
    C,F,A,H--67270903(+) TTTCCA/GGGCTT 1 -- ut3122Minor allele frequency- G:0.52NS EA NA WA CSA 2015

    HapMap Linkage Disequilibrium report for OPHN1 (67262186 - 67512186 bp, first 250kb of OPHN1)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for OPHN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2575463CNV Deletion19546169
    nsv436640CNV Deletion17901297
    esv2740203CNV Deletion23290073
    esv2676108CNV Deletion23128226
    nsv6938CNV Loss18451855
    nsv6939CNV Loss18451855
    nsv517446CNV Gain19592680
    nsv818030CNV Gain17921354
    dgv2450e1CNV Complex17122850
    esv1584074OTHER Inversion17803354

    Human Gene Mutation Database (HGMD): OPHN1
    Locus Specific Mutation Databases (LSDB): OPHN1

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300127   
    OMIM disorders: 300486  
    UniProtKB/Swiss-Prot: OPHN1_HUMAN, O60890
  • Mental retardation, X-linked, syndromic, OPHN1-related (MRXSO) [MIM:300486]: A disorder characterized by
    significantly below average general intellectual functioning associated with impairments in adaptive behavior and
    manifested during the developmental period. MRXSO patients manifest mental retardation associated with cerebellar
    hypoplasia and distinctive facial dysmorphism. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 17 diseases for OPHN1:    
    About MalaCards
    mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance    cerebellar hypoplasia    craniofrontonasal syndrome    non-specific x-linked mental retardation
    strabismus    mental retardation epilepsy    mental retardation    mental retardation, x-linked
    autism spectrum disorder    intellectual disability    spasticity    ataxia
    cerebritis    schizophrenia    endotheliitis    multiple myeloma
    myeloma

    1 disease from the University of Copenhagen DISEASES database for OPHN1:
    Intellectual disability

    OPHN1 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for OPHN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cerebellar hypoplasia 89.2 8 16221952 (2), 16506132 (1), 18512229 (1), 12805098 (1) (see all 6)
    mental retardation 85.7 37 16221952 (4), 10818214 (3), 16158428 (2), 18930891 (2) (see all 23)
    strabismus 43.7 1 18512229 (1)
    epilepsy 11.3 4 12805098 (2)
    tumors 0 1 11172594 (1)

    Genetic Association Database (GAD): OPHN1
    Human Genome Epidemiology (HuGE) Navigator: OPHN1 (3 documents)

    Export disorders for OPHN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for OPHN1 gene, integrated from 10 sources (see all 59):
    (articles sorted by number of sources associating them with OPHN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. (PubMed id 9582072)1, 2, 3, 9 Billuart P....Chelly J. (Nature 1998)
    2. Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation. (PubMed id 10818214)1, 2, 9 Billuart P.... Bienvenu T. (Ann. Genet. 2000)
    3. [Anassociation study between OPHN1 gene rs492933 polymorphism and mental retardation in children of the Qinba Mountain region.]. (PubMed id 18930891)1, 4, 9 Zhang L.J....Zhang F.C. (Yi Chuan 2008)
    4. Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. (PubMed id 16221952)1, 4, 9 Zanni G....Chelly J. (Neurology 2005)
    5. Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia. (PubMed id 10439959)1, 2, 9 Tentler D.... Dahl N. (Eur. J. Hum. Genet. 1999)
    6. Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family. (PubMed id 21796728)1, 2 Pirozzi F.... Chiurazzi P. (Hum. Mutat. 2011)
    7. Mutation of ARHGAP9 in patients with coronary spastic angina. (PubMed id 19911011)1, 4 Takefuji M....Kaibuchi K. (J. Hum. Genet. 2010)
    8. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    9. Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees. (PubMed id 12777533)1, 2 Kitano T.... Paeaebo S. (Mol. Biol. Evol. 2003)
    10. Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation. (PubMed id 9195162)1, 3 Bienvenu T....Cherif D. (Eur. J. Hum. Genet. 1997)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4983 HGNC: 8148 AceView: OPHN1 Ensembl:ENSG00000079482 euGenes: HUgn4983
    ECgene: OPHN1 H-InvDB: OPHN1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for OPHN1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=OPHN1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for OPHN1 gene:
    Search GeneIP for patents involving OPHN1

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



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