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

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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 cerebellar hypoplasia, and craniofrontonasal syndrome, and among its related super-pathways are Signaling by Rho GTPases and Signaling by GPCR. GO annotations related to this gene include phospholipid binding and SH3 domain 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 (By similarity).
Critical for the stabilization of AMPA receptors at postsynaptic sites (By similarity). Critical for the
regulation of synaptic vesicle endocytosis at presynaptic terminals (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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_011669.17  NC_018934.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for OPHN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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)
Subcellular location: Cell junction, synapse. Cell projection, axon. Cell projection, dendritic spine.
Note=Present in both presynaptic and postsynaptic sites (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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O60890

  • OPHN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    OPHN1 Protein Expression
    REFSEQ proteins: NP_002538.1  
    ENSEMBL proteins: 
     ENSP00000347710   ENSP00000438617  
    Reactome Protein details: O60890
    Human Recombinant Protein Products for OPHN1: 
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for OPHN1 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (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



    OPHN1 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    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: 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 (By similarity).
    Critical for the stabilization of AMPA receptors at postsynaptic sites (By similarity). Critical for the
    regulation of synaptic vesicle endocytosis at presynaptic terminals (By similarity)

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (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 IEA--
         
    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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for OPHN1 
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    miRNA
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    8/33 QIAGEN miScript miRNA 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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OPHN1


    (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 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 Transduction0.55
    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

    3        Reactome Pathways for OPHN1
        Signaling by Rho GTPases
    Signal Transduction
    Rho GTPase cycle



    OPHN1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for OPHN1

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

    5/38 Interacting proteins for OPHN1 (O608903 ENSP000003477104) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    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): 5/11 biological process terms (GO ID links to tree view) (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 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    Search CenterWatch for drugs/clinical trials and news about OPHN1

    (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 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)

    miRNA
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    8/33 QIAGEN miScript miRNA 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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    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 

    24/50 AceView cDNA sequences (see all 50):

    CA390085 CR605867 CB266029 BQ011131 BP357826 BP337692 BU621294 CB266700 
    CF529728 AW572478 AI400949 BX641302 AA532382 AB102656 BQ013636 AL697889 
    BI861313 BP358525 BM995047 BQ012744 BC059393 NM_002547 BX427730 AW297700 

    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™, 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

    OPHN1 expression in normal human tissues (normalized intensities)      OPHN1 embryonic expression: see
    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 
     5/5 selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 19 entries
             Cerebral Cortex
             Trigeminal Ganglion   
     
     Spinal Cord (Nervous System)    fully expand to see all 3 entries
             Superior Cervical Ganglion   
     
     Heart (Cardiovascular System)
             Atrioventricular Node
     
     Ovary (Reproductive System)
             oocyte   
     
     Oral Cavity (Gastrointestinal Tract)
             TONGUE   

    See OPHN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for OPHN1

    SOURCE GeneReport for Unigene cluster: Hs.128824

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

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    In Situ
    Assay Products:
     

     
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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 OPHN1 gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 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 74.96(n)
    83.29(a)
      422162  XM_420161.3  XP_420161.3 
    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
    62(a)
    1 ↔ 1
    5(37300581-37361639)
    fruit fly
    (Drosophila melanogaster)
    Insecta Graf3 RAL interactor 38(a)   13E14   --
    worm
    (Caenorhabditis elegans)
    Secernentea T04C9.16
    Protein T04C9.1, isoform a
    27(a)
    1 → many
    III(5993217-6006367)


    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)
    About This Section
    Paralogs for OPHN1 gene
    ARHGAP212  ARHGAP272  ARHGAP322  ARHGAP102  CHN22  ARHGAP232  ARHGAP332  ARHGAP92  
    ARHGAP262  CHN12  ARHGAP302  ARHGAP152  ARHGAP122  ARHGAP422  ARHGAP312  
    17 SIMAP similar genes for OPHN1 using alignment to 4 protein entries:     OPHN1_HUMAN (see all proteins):
    GRAF    ARHGAP42    CHN2-3    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) 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

    10/4735 SNPs in OPHN1 are shown (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
    ----------
    VAR_0136384
    ----see VAR_0136382 A T mis40--------
    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--------

    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
    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: 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 adaptative 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

  • 15 diseases for OPHN1:    About MalaCards
    cerebellar hypoplasia    craniofrontonasal syndrome    mental retardation epilepsy    non-specific x-linked mental retardation
    mental retardation    strabismus    mental retardation, x-linked    autism spectrum disorder
    intellectual disability    spasticity    ataxia    cerebritis
    schizophrenia    gastric cancer    endotheliitis

    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)
    About This Section

    PubMed articles for OPHN1 gene, integrated from 9 sources (see all 58):
    (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. (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. (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. (2008)
    4. Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. (PubMed id 16221952)1, 4, 9 Zanni G....Chelly J. (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. (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. (2011)
    7. Mutation of ARHGAP9 in patients with coronary spastic angina. (PubMed id 19911011)1, 4 Takefuji M....Kaibuchi K. (2010)
    8. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    9. Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees. (PubMed id 12777533)1, 2 Kitano T.... Paeaebo S. (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. (1997)

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

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

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

    (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 OPHN1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OPHN1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    About This Section

     
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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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