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Aliases for GPHN Gene

Aliases for GPHN Gene

  • Gephyrin 2 3 5
  • GPH 3 4
  • KIAA1385 4
  • GPHRYN 3
  • MOCODC 3
  • HKPX1 3
  • GEPH 3

External Ids for GPHN Gene

Previous GeneCards Identifiers for GPHN Gene

  • GC14P064480
  • GC14P060767
  • GC14P064964
  • GC14P066043
  • GC14P066974
  • GC14P047144

Summaries for GPHN Gene

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 molybdenum cofactor deficiency c and sulfite oxidase deficiency due to molybdenum cofactor deficiency type c. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include transferase activity and molybdopterin molybdotransferase activity.

UniProtKB/Swiss-Prot for GPHN Gene

  • 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 (PubMed:26613940).

Gene Wiki entry for GPHN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GPHN Gene

Genomics for GPHN Gene

Regulatory Elements for GPHN Gene

Promoters for GPHN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GPHN on UCSC Golden Path with GeneCards custom track

Genomic Location for GPHN Gene

Chromosome:
14
Start:
66,507,407 bp from pter
End:
67,181,808 bp from pter
Size:
674,402 bases
Orientation:
Plus strand

Genomic View for GPHN Gene

Genes around GPHN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPHN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPHN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPHN Gene

Proteins for GPHN Gene

  • Protein details for GPHN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQX3-GEPH_HUMAN
    Recommended name:
    Gephyrin
    Protein Accession:
    Q9NQX3
    Secondary Accessions:
    • Q9H4E9
    • Q9P2G2

    Protein attributes for GPHN Gene

    Size:
    736 amino acids
    Molecular mass:
    79748 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homotrimer (PubMed:26613940), homodimer and homooligomer (By similarity). Interacts with GABARAP (By similarity). Interacts with SRGAP2 (via SH3 domain) (By similarity). Interacts with GABRA3 (PubMed:26613940). Interacts with GLRB (PubMed:26613940, PubMed:12684523).
    SequenceCaution:
    • Sequence=BAA92623.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GPHN Gene

    Alternative splice isoforms for GPHN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GPHN Gene

Proteomics data for GPHN Gene at MOPED

Post-translational modifications for GPHN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GPHN (gephyrin)

No data available for DME Specific Peptides for GPHN Gene

Domains & Families for GPHN Gene

Suggested Antigen Peptide Sequences for GPHN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NQX3

UniProtKB/Swiss-Prot:

GEPH_HUMAN :
  • In the N-terminal section; belongs to the MoaB/Mog family.
Family:
  • In the N-terminal section; belongs to the MoaB/Mog family.
  • In the C-terminal section; belongs to the MoeA family.
genes like me logo Genes that share domains with GPHN: view

No data available for Gene Families for GPHN Gene

Function for GPHN Gene

Molecular function for GPHN Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + molybdopterin = diphosphate + adenylyl-molybdopterin.
UniProtKB/Swiss-Prot CatalyticActivity:
Adenylyl-molybdopterin + molybdate = molybdenum cofactor + AMP.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by copper and tungsten.
UniProtKB/Swiss-Prot 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 (PubMed:26613940).
genes like me logo Genes that share phenotypes with GPHN: view

Human Phenotype Ontology for GPHN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GPHN Gene

MGI Knock Outs for GPHN:

Animal Model Products

miRNA for GPHN Gene

miRTarBase miRNAs that target GPHN

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for GPHN Gene

Localization for GPHN Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPHN Gene

Cell junction, synapse. Cell junction, synapse, postsynaptic cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Note=Cytoplasmic face of glycinergic postsynaptic membranes. {ECO:0000250 UniProtKB:Q03555}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GPHN Gene COMPARTMENTS Subcellular localization image for GPHN gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for GPHN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030054 cell junction IEA --
GO:0030425 dendrite IDA 26613940
genes like me logo Genes that share ontologies with GPHN: view

Pathways & Interactions for GPHN Gene

genes like me logo Genes that share pathways with GPHN: view

Pathways by source for GPHN Gene

UniProtKB/Swiss-Prot Q9NQX3-GEPH_HUMAN

  • Pathway: Cofactor biosynthesis; molybdopterin biosynthesis.

SIGNOR curated interactions for GPHN Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for GPHN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0018315 molybdenum incorporation into molybdenum-molybdopterin complex IBA --
genes like me logo Genes that share ontologies with GPHN: view

Drugs & Compounds for GPHN Gene

(13) Drugs for GPHN Gene - From: HMDB, Novoseek, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
propanoic acid Experimental Pharma Full agonist, Agonist, Target 0
Formic acid Experimental Pharma Target 0
Diphosphate Experimental Pharma 0

(8) Additional Compounds for GPHN Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
molybdopterin
  • MoCo
  • Molybdenum cofactor
  • Molybdenum enzyme molybdenum cofactor
  • Molybdoenzyme molybdenum-containing cofactor
  • Nitrate reductase molybdenum cofactor
73508-07-3
Adenylyl-molybdopterin
molybdate
  • Molybdate ion
Tungsten
  • Tungsten ion
  • Tunsten
  • Wolfram
  • Wolframium
7440-33-7
genes like me logo Genes that share compounds with GPHN: view

Transcripts for GPHN Gene

Unigene Clusters for GPHN Gene

Gephyrin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GPHN Gene

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:

Relevant External Links for GPHN Gene

GeneLoc Exon Structure for
GPHN
ECgene alternative splicing isoforms for
GPHN

Expression for GPHN Gene

mRNA expression in normal human tissues for GPHN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GPHN Gene

This gene is overexpressed in Brain (11.1), Fetal Brain (9.2), and Frontal cortex (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GPHN Gene



SOURCE GeneReport for Unigene cluster for GPHN Gene Hs.208765

genes like me logo Genes that share expression patterns with GPHN: view

Protein tissue co-expression partners for GPHN Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GPHN Gene

Orthologs for GPHN Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GPHN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GPHN 36
  • 100 (a)
OneToOne
GPHN 35
  • 99.82 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia GPHN 36
  • 89 (a)
OneToOne
GPHN 35
  • 95.88 (n)
  • 99.22 (a)
dog
(Canis familiaris)
Mammalia GPHN 35
  • 96.32 (n)
  • 99.74 (a)
GPHN 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gphn 36
  • 98 (a)
OneToOne
Gphn 16
Gphn 35
  • 94.15 (n)
  • 98.83 (a)
oppossum
(Monodelphis domestica)
Mammalia GPHN 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GPHN 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gphn 35
  • 94.47 (n)
  • 99.86 (a)
chicken
(Gallus gallus)
Aves GPHN 35
  • 88.18 (n)
  • 98.51 (a)
GPHN 36
  • 98 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GPHN 36
  • 93 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.29239 35
tropical clawed frog
(Silurana tropicalis)
Amphibia gphn 35
  • 76.88 (n)
  • 85.56 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12530 35
zebrafish
(Danio rerio)
Actinopterygii gphnb 36
  • 88 (a)
OneToOne
gphnb 35
  • 76.4 (n)
  • 94.29 (a)
wufj59a01 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002800 35
  • 48.65 (n)
  • 43.99 (a)
fruit fly
(Drosophila melanogaster)
Insecta cin 36
  • 38 (a)
OneToOne
cin 37
  • 33 (a)
cin 35
  • 48.2 (n)
  • 40.88 (a)
worm
(Caenorhabditis elegans)
Secernentea moc-2 37
  • 44 (a)
lin-46 36
  • 30 (a)
OneToMany
moc-1 36
  • 37 (a)
OneToMany
moc-2 36
  • 43 (a)
OneToMany
barley
(Hordeum vulgare)
Liliopsida Hv.12358 35
bread mold
(Neurospora crassa)
Ascomycetes NCU09746 35
  • 50.32 (n)
  • 45.5 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToMany
-- 36
  • 43 (a)
OneToMany
Species with no ortholog for GPHN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GPHN Gene

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

Paralogs for GPHN Gene

Pseudogenes.org Pseudogenes for GPHN Gene

genes like me logo Genes that share paralogs with GPHN: view

No data available for Paralogs for GPHN Gene

Variants for GPHN Gene

Sequence variations from dbSNP and Humsavar for GPHN Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs121908539 - 66,508,555(+) TTACT(A/T)ACCAC reference, missense
VAR_070275 Molybdenum cofactor deficiency, complementation group C (MOCODC)
VAR_075626 Molybdenum cofactor deficiency, complementation group C (MOCODC)
rs523845 -- 66,592,526(+) CATTT(A/G/T)TGCAG intron-variant
rs720148 -- 66,746,000(+) gttgt(A/G)tatgt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GPHN Gene

Variant ID Type Subtype PubMed ID
esv2748779 CNV Deletion 23290073
nsv525460 CNV Loss 19592680
dgv1945n71 CNV Loss 21882294
esv2671863 CNV Deletion 23128226
nsv528657 CNV Loss 19592680
nsv1315 CNV Insertion 18451855
nsv902030 CNV Loss 21882294
nsv902031 CNV Loss 21882294
esv269830 CNV Insertion 20981092
nsv510640 CNV Loss 20534489
nsv85250 CNV Insertion 16902084
nsv524441 CNV Loss 19592680
dgv1946n71 CNV Loss 21882294
dgv1947n71 CNV Loss 21882294
dgv1948n71 CNV Loss 21882294
esv1426305 CNV Insertion 17803354
nsv85719 CNV Insertion 16902084
nsv1316 CNV Insertion 18451855
esv7064 OTHER Inversion 19470904
esv997182 CNV Deletion 20482838
esv998272 CNV Insertion 20482838
dgv1949n71 CNV Loss 21882294
nsv510641 CNV Loss 20534489
nsv902043 CNV Loss 21882294
dgv1950n71 CNV Loss 21882294
dgv1951n71 CNV Loss 21882294
dgv1952n71 CNV Loss 21882294
esv2657966 CNV Deletion 23128226
nsv902055 CNV Loss 21882294
nsv902056 CNV Loss 21882294
nsv902057 CNV Loss 21882294
dgv1953n71 CNV Loss 21882294
esv2751285 CNV Gain 17911159
nsv1317 CNV Insertion 18451855
dgv1954n71 CNV Loss 21882294
nsv902063 CNV Loss 21882294
nsv902064 CNV Loss 21882294
esv2748803 CNV Deletion 23290073
esv2670854 CNV Deletion 23128226
esv2517679 CNV Deletion 19546169
nsv832821 CNV Gain 17160897
esv2671185 CNV Deletion 23128226

Variation tolerance for GPHN Gene

Residual Variation Intolerance Score: 7.36% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.87; 18.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GPHN Gene

HapMap Linkage Disequilibrium report
GPHN
Human Gene Mutation Database (HGMD)
GPHN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPHN Gene

Disorders for GPHN Gene

MalaCards: The human disease database

(11) MalaCards diseases for GPHN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
molybdenum cofactor deficiency c
  • molybdenum cofactor deficiency, complementation group c
sulfite oxidase deficiency due to molybdenum cofactor deficiency type c
  • combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type c
hyperekplexia
  • stiff-person syndrome
gphn-related hyperekplexia
molybdenum cofactor deficiency
  • combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase
- elite association - COSMIC cancer census association via MalaCards
Search GPHN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GEPH_HUMAN
  • 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. {ECO:0000269 PubMed:11095995, ECO:0000269 PubMed:22040219, ECO:0000269 PubMed:26613940}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GPHN

Genetic Association Database (GAD)
GPHN
Human Genome Epidemiology (HuGE) Navigator
GPHN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GPHN
genes like me logo Genes that share disorders with GPHN: view

No data available for Genatlas for GPHN Gene

Publications for GPHN Gene

  1. Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia. (PMID: 12684523) Rees M.I. … Snell R.G. (J. Biol. Chem. 2003) 3 4 23 67
  2. Gephyrin: where do we stand, where do we go? (PMID: 18403029) Fritschy J.M. … Schwarz G. (Trends Neurosci. 2008) 2 3 23
  3. Interaction of RAFT1 with gephyrin required for rapamycin-sensitive signaling. (PMID: 10325225) Sabatini D.M. … Snyder S.H. (Science 1999) 2 3 23
  4. Regulation of postsynaptic gephyrin cluster size by protein phosphatase 1. (PMID: 20206270) Bausen M. … O'Sullivan G.A. (Mol. Cell. Neurosci. 2010) 3 23
  5. Multiple association states between glycine receptors and gephyrin identified by SPT analysis. (PMID: 17293395) Ehrensperger M.V. … Dahan M. (Biophys. J. 2007) 3 23

Products for GPHN Gene

Sources for GPHN Gene

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