Gene

Gphn

Species
Rattus norvegicus
Symbol
Gphn
Name
gephyrin
Synonyms
  • Geph
  • gephyrin isoform
Biotype
protein coding gene
Automated Description
Enables several functions, including identical protein binding activity; molybdopterin adenylyltransferase activity; and molybdopterin molybdotransferase activity. Involved in establishment of protein localization; neurotransmitter receptor localization to postsynaptic specialization membrane; and synapse assembly. Acts upstream of or within Mo-molybdopterin cofactor biosynthetic process. Located in several cellular components, including GABA-ergic synapse; cytoplasmic side of plasma membrane; and inhibitory synapse. Is active in glycinergic synapse and postsynaptic specialization, intracellular component. Human ortholog(s) of this gene implicated in inherited metabolic disorder and molybdenum cofactor deficiency type C. Orthologous to human GPHN (gephyrin).
RGD Description
Enables several functions, including identical protein binding activity; molybdopterin adenylyltransferase activity; and molybdopterin molybdotransferase activity. Involved in establishment of protein localization; neurotransmitter receptor localization to postsynaptic specialization membrane; and synapse assembly. Acts upstream of or within Mo-molybdopterin cofactor biosynthetic process. Located in several cellular components, including GABA-ergic synapse; cytoplasmic side of plasma membrane; and inhibitory synapse. Is active in glycinergic synapse and postsynaptic specialization, intracellular component. Human ortholog(s) of this gene implicated in inherited metabolic disorder and molybdenum cofactor deficiency type C. Orthologous to human GPHN (gephyrin); PARTICIPATES IN molybdenum cofactor biosynthetic pathway; Inhibitory synaptic transmission pathway; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,6-dinitrotoluene; acetamide.
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10192
Stringency:
Additional filters to further constrain the results:
Species Gene symbol Count Best Best reverse
Method
Ensembl ComparaHGNCHieranoidInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidXenbaseZFIN
Homo sapiensGPHN10 of 10YesYes  
Mus musculusGphn9 of 9YesYes   
Xenopus tropicalisgphn5 of 9YesYes   
Danio reriogphnb9 of 9YesYes   
Danio reriogphna7 of 9NoYes   
Drosophila melanogastercin8 of 9YesYes   
Caenorhabditis elegansmoc-16 of 9YesYes   
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

No paralogs for the gene.

Function - GO Annotations

No function available for that gene

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
None
No data available

Disease Associations

Cases where the expected disease association was NOT found
all annotationsall disease by infectious agentbacterial infectious diseasefungal infectious diseaseparasitic infectious diseaseviral infectious diseaseall disease of anatomical entitycardiovascular system diseasecentral nervous system diseaseendocrine system diseasegastrointestinal system diseasehematopoietic system diseaseimmune system diseaseintegumentary system diseasemusculoskeletal system diseaseperipheral nervous system diseasereproductive system diseaserespiratory system diseasesensory system diseasethoracic diseaseurinary system diseaseall disease of cellular proliferationbenign neoplasmcancerpre-malignant neoplasmall genetic diseasechromosomal diseasemonogenic diseasepolygenic diseaseall other diseasedisease of mental healthdisease of metabolismphysical disordersyndrome
Gphn (Rno)
GPHN (Hsa)
Gphn (Mmu)
gphn (Xtr)
gphna (Dre)
gphnb (Dre)
cin (Dme)
moc-1 (Cel)
Cell color indicative of annotation volume
Species
Gene
Association
Disease Qualifier
Disease
Evidence
Source
Based On
References
Homo sapiensGPHN
is implicated ininherited metabolic disorder
  • IAGP
    Homo sapiensGPHN
    is implicated inmolybdenum cofactor deficiency type C
    • IAGP
      Showing 1 - 2 of 2 rows
      per page

      Alleles and Variants

      Genome location
      Assembly version
      mRatBN7.2
      Viewer Help
      96.9M97.0M97.1M97.2M97.3M97.4M
      Variant Types and ConsequencesOnly variants associated to alleles are shown in the graphics above. See all variants in JBrowse.
      Allele/Variant Symbol
      Allele Synonyms
      Category
      Variant
      Variant type
      Molecular consequence
      Has Disease Annotations
      Has Phenotype Annotations
      NC_051341.1:g.97189807A>Gvariant
      SNP
      • intron variant
      NC_051341.1:g.97075434C>Avariant
      SNP
      • intron variant
      NC_051341.1:g.97068814C>Tvariant
      SNP
      • intron variant
      NC_051341.1:g.97341106T>Gvariant
      SNP
      • intron variant
      NC_051341.1:g.97171675G>Cvariant
      SNP
      • intron variant
      NC_051341.1:g.97173075T>Cvariant
      SNP
      • intron variant
      NC_051341.1:g.97424736C>Gvariant
      SNP
      • intron variant
      NC_051341.1:g.97284360C>Tvariant
      SNP
      • intron variant
      NC_051341.1:g.97438626A>Tvariant
      SNP
      • intron variant
      NC_051341.1:g.97289334G>Tvariant
      SNP
      • intron variant
      Showing 1 - 10 of 1,077 rows
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      Transgenic Alleles

      No data available

      Models

      No data available

      Sequence Details

      Loading...

      Expression

      Primary Sources
      None
      Other Sources
      all annotationsall anatomical structuresalimentary part of gastrointestinal systemchemosensory systemcirculatory systemendocrine systemexocrine systemhemolymphoid systemhepatobiliary systemintegumental systemmechanosensory systemmusculoskeletal systemnervous systemrenal systemreproductive systemrespiratory systemsensory systemvestibulo-auditory systemvisual systemendodermectodermmesodermmesenchymeadipose tissueappendageentire extraembryonic componentimaginal precursorpharyngeal archotherall stagesembryo stagepost embryonic, pre-adultpost-juvenile adult stageall cellular componentsextracellular regionplasma membranesynapsecell junctioncell projectioncytoplasmic vesicleendosomevacuolegolgi apparatusendoplasmic reticulumcytosolmitochondrionnucleuschromosomecytoskeletonprotein-containing complexother locations
      Gphn (Rno)
      Gphn (Mmu)
      gphna (Dre)
      gphnb (Dre)
      cin (Dme)
      moc-1 (Cel)
      Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

      Molecular Interactions

      16 interactor genes based on 30 annotations
      Gphn molecule type
      Interactor gene
      Interactor species
      Interactor molecule type
      Detection methods
      Source
      Reference
      protein
      Akt3Rattus norvegicus
      protein
      • affinity chromatography technology
      PMID:30053369
      protein
      Capn1Mus musculus
      protein
      • anti tag coimmunoprecipitation
      PMID:21173228
      protein
      Dync1h1Rattus norvegicus
      protein
      • imaging technique
      PMID:16449194
      protein
      Dync1i1Rattus norvegicus
      protein
      • affinity chromatography technology
      PMID:16449194
      protein
      DYNLL1Homo sapiens
      protein
      • affinity chromatography technology
      PMID:14760703
      protein
      EnahRattus norvegicus
      protein
      • affinity chromatography technology
      PMID:12967995
      protein
      EnahRattus norvegicus
      protein
      • pull down
      PMID:12967995
      protein
      GabarapRattus norvegicus
      protein
      • two hybrid
      PMID:10900017
      protein
      Gabra3Rattus norvegicus
      protein
      • far western blotting
      PMID:21880742
      protein
      Gabra3Rattus norvegicus
      protein
      • two hybrid
      PMID:21880742
      Showing 1 - 10 of 30 rows
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      Genetic Interactions

      No data available