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GPHN Gene

protein-coding   GIFtS: 70
GCID: GC14P066974

Gephyrin

  See GPHN-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
gephyrin1 2     KIAA13853 5
GPH2 3 5     GPHRYN2
GEPH2 5     HKPX12
MOCODC2 5     

External Ids:    HGNC: 154651   Entrez Gene: 102432   Ensembl: ENSG000001717237   OMIM: 6039305   UniProtKB: Q9NQX33   

Export aliases for GPHN gene to outside databases

Previous GC identifers: GC14P064480 GC14P060767 GC14P064964 GC14P066043 GC14P047144


(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 GPHN Gene:
This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the
postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In
nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this
gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor
deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described;
however, the full-length nature of all transcript variants is not currently known. (provided by RefSeq, Jul 2008)

GeneCards Summary for GPHN Gene:
GPHN (gephyrin) is a protein-coding gene. Diseases associated with GPHN include gphn-related hyperekplexia, and molybdenum cofactor deficiency c. GO annotations related to this gene include transferase activity.

UniProtKB/Swiss-Prot: GEPH_HUMAN, Q9NQX3
Function: Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to
anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules (By similarity). Catalyzes two steps in
the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently,
molybdate is inserted into adenylated molybdopterin and AMP is released

Gene Wiki entry for GPHN 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 at NCBI GenBank:
NC_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GPHN gene promoter:
         HFH-3   AML1a   ATF-2   CUTL1   Ik-3   FOXI1   c-Rel   Nkx6-1   Pax-4a   
         Other transcription factors

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

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


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

Entrez Gene cytogenetic band: 14q23.3   Ensembl cytogenetic band:  14q23.3   HGNC cytogenetic band: 14q23.3

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

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P066974:  view genomic region     (about GC identifiers)

Start:
66,974,125 bp from pter      End:
67,648,525 bp from pter
Size:
674,401 bases      Orientation:
plus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GEPH_HUMAN, Q9NQX3 (See protein sequence)
Recommended Name: Gephyrin  
Size: 736 amino acids; 79748 Da
Cofactor: Magnesium (By similarity)
Subunit: Homotrimer. Interacts with GABARAP (By similarity). Interacts with SRGAP2 (via SH3 domain) (By
similarity)
Sequence caution: Sequence=BAA92623.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for GPHN:
1JLJ (3D)    
Secondary accessions: Q9H4E9 Q9P2G2
Alternative splicing: 2 isoforms:  Q9NQX3-1   Q9NQX3-2   

Explore the universe of human proteins at neXtProt for GPHN: NX_Q9NQX3

Explore proteomics data for GPHN at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001019389.1  NP_065857.1  

    ENSEMBL proteins: 
     ENSP00000312771   ENSP00000417901   ENSP00000452220   ENSP00000438404   ENSP00000451935  
     ENSP00000451056   ENSP00000451790   ENSP00000451725   ENSP00000450706   ENSP00000452009  
     ENSP00000450442   ENSP00000303019  
    Reactome Protein details: Q9NQX3

    GPHN Human Recombinant Protein Products:

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    OriGene Purified Protein for GPHN
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    OriGene MassSpec for GPHN
    OriGene Custom Protein Services for GPHN
    GenScript Custom Purified and Recombinant Proteins Services for GPHN
    Novus Biologicals GPHN Protein
    Novus Biologicals GPHN Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GPHN

     
    Search eBioscience for Proteins for GPHN 

    GPHN Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of GPHN
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    Abcam antibodies for GPHN
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    LSBio Antibodies in human, mouse, rat for GPHN

    GPHN Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GPHN
    Cloud-Clone Corp. CLIAs for GPHN
    Search eBioscience for ELISAs for GPHN 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR020817 Mo_cofactor_synthesis
     IPR005111 MoeA_C_domain_IV
     IPR008284 MoCF_biosynth_CS
     IPR001453 Mopterin-bd_dom
     IPR005110 MoeA_linker/N

    Graphical View of Domain Structure for InterPro Entry Q9NQX3

    ProtoNet protein and cluster: Q9NQX3

    2 Blocks protein domains:
    IPB001453 Molybdenum cofactor biosynthesis protein
    IPB008284 Molybdenum cofactor biosynthesis protein


    UniProtKB/Swiss-Prot: GEPH_HUMAN, Q9NQX3
    Similarity: In the N-terminal section; belongs to the MoaB/Mog family
    Similarity: In the C-terminal section; belongs to the MoeA family


    Find genes that share domains with GPHN           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GEPH_HUMAN, Q9NQX3
    Function: Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to
    anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules (By similarity). Catalyzes two steps in
    the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently,
    molybdate is inserted into adenylated molybdopterin and AMP is released
    Catalytic activity: ATP + molybdopterin = diphosphate + adenylyl-molybdopterin
    Catalytic activity: Adenylyl-molybdopterin + molybdate = molybdenum cofactor + AMP
    Enzyme regulation: Inhibited by copper and tungsten (By similarity)

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
    GO:0016740transferase activity TAS--
    GO:0046872metal ion binding IEA--
    GO:0061598molybdopterin adenylyltransferase activity IEA--
    GO:0061599molybdopterin molybdotransferase activity IEA--
         
    Find genes that share ontologies with GPHN           About GenesLikeMe


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gphn):
     behavior/neurological  cellular  mortality/aging  nervous system  normal 
     respiratory system  vision/eye 

    Find genes that share phenotypes with GPHN           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Gphntm1Jrs for GPHN

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GPHN
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GPHN

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target GPHN:
    hsa-let-7b-5p (MIRT052292)

    Block miRNA regulation of human, mouse, rat GPHN using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GPHN (see all 37):
    hsa-miR-200a hsa-miR-3138 hsa-miR-141 hsa-miR-1244 hsa-miR-3658 hsa-miR-889 hsa-miR-330-3p hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidGPHN 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GPHN

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    GenScript: all cDNA clones in your preferred vector (see all 2): GPHN (NM_020806)
    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GPHN


    (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
    GEPH_HUMAN, Q9NQX3: Cell junction, synapse (By similarity). Cell junction, synapse, postsynaptic cell membrane;
    Peripheral membrane protein; Cytoplasmic side (By similarity). Cytoplasm, cytoskeleton (By similarity).
    Note=Cytoplasmic face of glycinergic postsynaptic membranes (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol3
    cytoskeleton2
    nucleus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0005886plasma membrane TAS--
    GO:0030054cell junction IEA--

    Find genes that share ontologies with GPHN           About GenesLikeMe


    (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 GPHN About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Metabolism of vitamins and cofactors1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in cobalamin (B12) metabolism1.00
    2Circadian entrainment
    GABAergic synapse0.53
    3Metabolism
    Metabolism0.38
    4Disease
    Disease


    Find genes that share SuperPaths with GPHN           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for GPHN
        molybdenum cofactor biosynthesis

    1 Reactome Pathway for GPHN
        Molybdenum cofactor biosynthesis


    1 Kegg Pathway  (Kegg details for GPHN):
        GABAergic synapse

    UniProtKB/Swiss-Prot: GEPH_HUMAN, Q9NQX3
    Pathway: Cofactor biosynthesis; molybdopterin biosynthesis

        Pathway & Disease-focused RT2 Profiler PCR Array including GPHN: 

              GABA & Glutamate in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GPHN

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

    Selected Interacting proteins for GPHN (Q9NQX32, 3 ENSP000003030194) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DYNLL1P631672, 3, ENSP000002425774MINT-8058152 I2D: score=3 STRING: ENSP00000242577
    PFN1P077373, ENSP000002256554I2D: score=3 STRING: ENSP00000225655
    PRPF4O431723, ENSP000003633134I2D: score=2 STRING: ENSP00000363313
    ENAHQ8N8S73, ENSP000003558094I2D: score=1 STRING: ENSP00000355809
    SLX4Q8IY923, ENSP000002940084I2D: score=1 STRING: ENSP00000294008
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006777Mo-molybdopterin cofactor biosynthetic process IEA--
    GO:0007529establishment of synaptic specificity at neuromuscular junction IEA--
    GO:0032324molybdopterin cofactor biosynthetic process TAS--

    Find genes that share ontologies with GPHN           About GenesLikeMe



    (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 GPHN (GEPH)

    4 HMDB Compounds for GPHN    About this table
    CompoundSynonyms CAS #PubMed Ids
    CopperCu (see all 2)7440-50-8--
    MagnesiumMagnesium (see all 2)7439-95-4--
    MolybdenumMo (see all 7)7439-98-7--
    TungstenTunsten (see all 4)7440-33-7--

    2 DrugBank Compounds for GPHN    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Propanoic Acid-- 79-09-4target--17139284 17016423 10592235
    Formic AcidAminic acid (see all 5)64-18-6target--10592235

    10 Novoseek inferred chemical compound relationships for GPHN gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    moco 85.6 16 11095995 (4), 18411266 (4), 11418245 (2), 17374639 (1) (see all 6)
    molybdopterin 76.7 4 15159566 (2), 11095995 (1), 11554796 (1)
    molybdenum 75.4 18 11095995 (2), 18411266 (2), 14976213 (1), 15159566 (1) (see all 14)
    gaba 66.2 38 7642803 (6), 11840480 (3), 19950251 (2), 17916433 (2) (see all 17)
    pterin 56.4 2 15159566 (1), 12754701 (1)
    strychnine 41.9 5 9427682 (3), 9605343 (1)
    glutamate 34.8 3 15739236 (1), 20206270 (1), 15651297 (1)
    nmda 23.6 6 10051776 (2), 20371221 (1), 16757119 (1)
    xanthine 20.4 1 18411266 (1)
    potassium 0 1 16641238 (1)



    Find genes that share compounds with GPHN           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GPHN gene (2 alternative transcripts): 
    NM_001024218.1  NM_020806.4  

    Unigene Cluster for GPHN:

    Gephyrin
    Hs.208765  [show with all ESTs]
    Unigene Representative Sequence: NM_020806
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000315266 ENST00000478722(uc001xiw.3 uc001xix.3 uc001xiy.3 uc010tss.2 uc010tst.2 uc010tsu.2)
    ENST00000459628 ENST00000543237 ENST00000555668 ENST00000556633 ENST00000557654
    ENST00000553936 ENST00000556020 ENST00000544752 ENST00000555456 ENST00000556501
    ENST00000555527 ENST00000555503 ENST00000557678 ENST00000556240 ENST00000305960

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    Selected qRT-PCR Assays for microRNAs that regulate GPHN (see all 37):
    hsa-miR-200a hsa-miR-3138 hsa-miR-141 hsa-miR-1244 hsa-miR-3658 hsa-miR-889 hsa-miR-330-3p hsa-miR-3148
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    Addgene plasmids for GPHN 
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    OriGene qSTAR qPCR primer pairs in human, mouse for GPHN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GPHN
      QuantiTect SYBR Green Assays in human, mouse, rat GPHN
      QuantiFast Probe-based Assays in human, mouse, rat GPHN

    Additional mRNA sequence: 

    AB037806.1 AF272663.1 AJ272033.1 AJ272343.1 AK294532.1 AK295577.1 AK297447.1 AK315569.1 
    BC030016.2 

    10 DOTS entries:

    DT.446235  DT.95102577  DT.97842072  DT.91679002  DT.100783683  DT.100783684  DT.95258497  DT.95337558 
    DT.75140894  DT.91679001 

    Selected AceView cDNA sequences (see all 41):

    BQ051395 CA391877 AV727250 AI124781 BM804725 AA325690 BX477325 AW076099 
    AA315242 AA308742 F05501 AI904285 BX430006 BX430007 BG432181 AL698169 
    AK025169 BX432896 BX423199 BX486765 BG746440 BX486520 AW961014 NM_020806 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for GPHN    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^
    SP1:                                      -                                               -                                         -                           
    SP2:                                      -                       -                       -                                         -                           
    SP3:                                -                                                                                                                           
    SP4:                                                                                                                                                            

    ExUns: 23 ^ 24
    SP1:            
    SP2:            
    SP3:            
    SP4:            


    ECgene alternative splicing isoforms for GPHN

    (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)
    About This Section

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


    GPHN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
    GPHN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GPHN Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.208765
        Pathway & Disease-focused RT2 Profiler PCR Array including GPHN: 
              GABA & Glutamate in human mouse rat

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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 eukaryotes.

    Orthologs for GPHN gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gphn1 , 5 gephyrin1, 5 94.15(n)1
    98.83(a)1
      12 (35.51 cM)5
    2685661  NM_145965.21  NP_666077.21 
     782266555 
    chicken
    (Gallus gallus)
    Aves GPHN1 gephyrin 88.18(n)
    98.51(a)
      428878  NM_001031549.1  NP_001026720.1 
    lizard
    (Anolis carolinensis)
    Reptilia GPHN6
    gephyrin
    93(a)
    1 ↔ 1
    GL343272.1(1378002-1710686)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.292392 Xenopus laevis transcribed sequence with strong similarity more 85.44(n)    CF519644.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj59a012 Transcribed sequences 73.18(n)    CK362372.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta cin1 , 3 Mo-molybdopterin cofactor biosynthesis3
    cinnamon1
    33(a)3
    48.2(n)1
    40.88(a)1
      1A13
    309731  NM_166835.31  NP_726659.11 
    worm
    (Caenorhabditis elegans)
    Secernentea moc-23   -- 44(a)   V(6505041-6506739)   --
    barley
    (Hordeum vulgare)
    Liliopsida Hv.123582 Hordeum vulgare molybdenum cofactor biosynthesis protein more 71.1(n)    AF268595.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GPHN gene
    2 SIMAP similar genes for GPHN using alignment to 10 protein entries:     GEPH_HUMAN (see all proteins):
    GPHRYN    NAA25

    Find genes that share paralogs with GPHN           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for GPHN
    PGOHUM00000248210


    (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 GPHN (see all 13528)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0702754
    Molybdenum cofactor deficiency, complementation group C (MOCODC)4--see VAR_0702752 D A mis40--------
    rs1219085391,2,,4
    Cpathogenic147956895(+) TTACTA/TACCAC 4 N Y mis10--------
    rs2018268431,2
    --47142191(+) AATTT-/AGTTCC 2 -- us2k10--------
    rs1999228711,2
    --47142193(+) TTTAG-/TTCC  
            
    ATTAT
    2 -- us2k10--------
    rs727245661,2
    C,F--47142195(+) TAGTTC/TCATTA 2 -- us2k11Minor allele frequency- T:0.09NA 120
    rs14574231,2
    C,F,A,H--47142196(+) AGTTCC/GATTAT 2 -- us2k112Minor allele frequency- G:0.43NS EA NA WA CSA 775
    rs802577771,2
    --47154446(+) CTGTAA/CAAAAA 2 -- int11Minor allele frequency- C:0.00CSA 1
    rs1441792621,2
    C--47154446(+) CTGTA-/CAAAAA 2 -- int10--------
    rs613771531,2
    C--47173206(+) TGTCA-/AG/TT 
    TGTTATTT
    GATTT
    2 -- int10--------
    rs1428483181,2
    C--47173207(+) TGTCA-/GATTTTGT 2 -- int10--------

    HapMap Linkage Disequilibrium report for GPHN (66974125 - 67224125 bp, first 250kb of GPHN)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for GPHN (see all 42):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2748779CNV Deletion23290073
    esv2670854CNV Deletion23128226
    esv2671185CNV Deletion23128226
    esv2748803CNV Deletion23290073
    esv2657966CNV Deletion23128226
    esv2671863CNV Deletion23128226
    esv2517679CNV Deletion19546169
    esv997182CNV Deletion20482838
    nsv1317CNV Insertion18451855
    nsv85250CNV Insertion16902084

    Human Gene Mutation Database (HGMD): GPHN
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GPHN
    DNA2.0 Custom Variant and Variant Library Synthesis for GPHN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603930   
    OMIM disorders: 615501  
    UniProtKB/Swiss-Prot: GEPH_HUMAN, Q9NQX3
  • Molybdenum cofactor deficiency, complementation group C (MOCODC) [MIM:615501]: A form of molybdenum
    cofactor deficiency, an autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme
    activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe
    psychomotor retardation, and death in early childhood in most patients. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 8 diseases for GPHN:    
    About MalaCards
    gphn-related hyperekplexia    molybdenum cofactor deficiency c    geniculate herpes zoster    molybdenum cofactor deficiency
    hyperekplexia, hereditary 1, autosomal dominant or recessive    herpes zoster    hyperekplexia    stiff-person syndrome

    2 diseases from the University of Copenhagen DISEASES database for GPHN:
    Stiff-Person syndrome     Geniculate herpes zoster

    Find genes that share disorders with GPHN           About GenesLikeMe

    5 Novoseek inferred disease relationships for GPHN gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperekplexia 87.2 5 12684523 (3), 16429380 (1)
    molybdenum cofactor deficiency 85.9 1 12684523 (1)
    stiff-man syndrome 59.1 2 10839351 (1), 15651297 (1)
    leukemia 0 1 11579461 (1)
    autoimmunity 0 1 10839351 (1)

    GeneTests: GPHN
    GeneReviews: GPHN
    Genetic Association Database (GAD): GPHN
    Human Genome Epidemiology (HuGE) Navigator: GPHN (9 documents)

    Export disorders for GPHN 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 GPHN gene, integrated from 10 sources (see all 170):
    (articles sorted by number of sources associating them with GPHN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia. (PubMed id 12684523)1, 2, 9 Rees M.I.... Snell R.G. (J. Biol. Chem. 2003)
    2. Gephyrin: where do we stand, where do we go? (PubMed id 18403029)1, 3, 9 Fritschy J.M....Schwarz G. (Trends Neurosci. 2008)
    3. The human gephyrin (GPHN) gene: structure, chromosome localization and expression in non-neuronal cells. (PubMed id 11418245)1, 2, 9 David-Watine B. (Gene 2001)
    4. A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency. (PubMed id 11095995)1, 2, 9 Reiss J....Schwarz G. (Am. J. Hum. Genet. 2001)
    5. Crystal structures of human gephyrin and plant Cnx1 G domains: comparative analysis and functional implications. (PubMed id 11554796)1, 2, 9 Schwarz G.... Schindelin H. (J. Mol. Biol. 2001)
    6. Interaction of RAFT1 with gephyrin required for rapamycin-sensitive signaling. (PubMed id 10325225)1, 3, 9 Sabatini D.M....Snyder S.H. (Science 1999)
    7. Association study of 182 candidate genes in anorexia nervosa. (PubMed id 20468064)1, 4 Pinheiro A.P....Woodside D.B. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    9. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    10. Genetical genomic determinants of alcohol consumption in rats and humans. (PubMed id 19874574)1, 4 Tabakoff B....Hoffman P.L. (BMC Biol. 2009)

    (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: 10243 HGNC: 15465 AceView: GPHN Ensembl:ENSG00000171723 euGenes: HUgn10243
    ECgene: GPHN Kegg: 10243 H-InvDB: GPHN

    (According to HUGE)
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    HUGE: KIAA1385

    (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 GPHN Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GPHN Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GPHN[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 GPHN gene:
    Search GeneIP for patents involving GPHN

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



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