Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GPHN Gene

Aliases for GPHN Gene

  • Gephyrin 2 3
  • GPH 3 4 6
  • KIAA1385 4 6
  • MOCODC 3 6
  • GEPH 3 6
  • GPHRYN 3
  • HKPX1 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 retinopathy pigmentary mental retardation. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include transferase 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.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GPHN Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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. Interacts with GABARAP (By similarity). Interacts with SRGAP2 (via SH3 domain) (By similarity).
    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 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 :
  • Q9NQX3
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.

Gene Ontology (GO) - Molecular Function for GPHN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0016740 transferase activity --
GO:0046872 metal ion binding IEA --
GO:0061598 molybdopterin adenylyltransferase activity IBA --
GO:0061599 molybdopterin molybdotransferase activity TAS --
genes like me logo Genes that share ontologies with GPHN: view
genes like me logo Genes that share phenotypes with GPHN: view

Animal Models for GPHN Gene

MGI Knock Outs for GPHN:

miRNA for GPHN Gene

miRTarBase miRNAs that target GPHN

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GPHN

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GPHN Gene COMPARTMENTS Subcellular localization image for GPHN gene
Compartment Confidence
plasma membrane 4
cytosol 3
cytoskeleton 2
nucleus 1

Gene Ontology (GO) - Cellular Components for GPHN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005737 cytoplasm IBA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane TAS --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GPHN: view

Pathways for GPHN Gene

SuperPathways for GPHN Gene

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

Pathways by source for GPHN Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot Q9NQX3-GEPH_HUMAN

  • Pathway: Cofactor biosynthesis; molybdopterin biosynthesis

Gene Ontology (GO) - Biological Process for GPHN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0006777 Mo-molybdopterin cofactor biosynthetic process IBA --
GO:0007529 establishment of synaptic specificity at neuromuscular junction IEA --
GO:0018315 molybdenum incorporation into molybdenum-molybdopterin complex IBA --
genes like me logo Genes that share ontologies with GPHN: view

Compounds for GPHN Gene

(4) HMDB Compounds for GPHN Gene

Compound Synonyms Cas Number PubMed IDs
Copper
  • Cu
7440-50-8
Magnesium
  • Magnesium
7439-95-4
Molybdenum
  • Mo
7439-98-7
Tungsten
  • Tunsten
7440-33-7

(2) Drugbank Compounds for GPHN Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Formic Acid
  • Aminic acid
64-18-6 target
Propanoic Acid
79-09-4 target

(10) Novoseek inferred chemical compound relationships for GPHN Gene

Compound -log(P) Hits PubMed IDs
moco 85.6 13
molybdopterin 76.7 4
molybdenum 75.4 16
gaba 66.2 27
pterin 56.4 2
genes like me logo Genes that share compounds with GPHN: view

Transcripts for GPHN Gene

Unigene Clusters for GPHN Gene

Gephyrin:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GPHN

Primer Products

Flow Cytometry Products

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 for GPHN Gene

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

Integrated Proteomics: protein expression 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 expressions with GPHN: view

Expression partners for GPHN Gene

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
cow
(Bos Taurus)
Mammalia GPHN 35
  • 95.88 (n)
  • 99.22 (a)
GPHN 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GPHN 35
  • 96.32 (n)
  • 99.74 (a)
GPHN 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gphn 35
  • 94.15 (n)
  • 98.83 (a)
Gphn 16
Gphn 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GPHN 35
  • 99.82 (n)
  • 100 (a)
GPHN 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gphn 35
  • 94.47 (n)
  • 99.86 (a)
oppossum
(Monodelphis domestica)
Mammalia GPHN 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GPHN 36
  • 83 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia gphn 35
  • 76.88 (n)
  • 85.56 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.29239 35
zebrafish
(Danio rerio)
Actinopterygii gphnb 35
  • 76.4 (n)
  • 94.29 (a)
wufj59a01 35
gphnb 36
  • 88 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12530 35
fruit fly
(Drosophila melanogaster)
Insecta cin 37
  • 33 (a)
cin 35
  • 48.2 (n)
  • 40.88 (a)
cin 36
  • 38 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002800 35
  • 48.65 (n)
  • 43.99 (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

Selected SIMAP similar genes for GPHN Gene using alignment to 10 proteins:

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 MAF
rs239873 -- 66,591,736(-) aaatt(A/T)ccttg intron-variant
rs375456 -- 66,592,413(-) TAGCC(A/C/G/T)TTTGT intron-variant
rs383421 -- 66,592,423(-) TTCTG(A/C/G/T)ATATT intron-variant
rs392665 -- 66,592,662(-) tcctc(G/T)ccagc intron-variant
rs404899 -- 66,592,660(+) atgct(A/G)gagag 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

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

(1) OMIM Diseases for GPHN Gene (603930)

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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for GPHN Gene

(5) Novoseek inferred disease relationships for GPHN Gene

Disease -log(P) Hits PubMed IDs
hyperekplexia 87.2 4
molybdenum cofactor deficiency 85.9 1
stiff-man syndrome 59.1 2
leukemia 0 1
autoimmunity 0 1

Relevant External Links for GPHN

GeneTests
GPHN
GeneReviews
GPHN
Genetic Association Database (GAD)
GPHN
Human Genome Epidemiology (HuGE) Navigator
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. Interaction of RAFT1 with gephyrin required for rapamycin-sensitive signaling. (PMID: 10325225) Sabatini D.M. … Snyder S.H. (Science 1999) 2 3 23
  2. The human gephyrin (GPHN) gene: structure, chromosome localization and expression in non-neuronal cells. (PMID: 11418245) David-Watine B. (Gene 2001) 3 4 23
  3. Crystal structures of human gephyrin and plant Cnx1 G domains: comparative analysis and functional implications. (PMID: 11554796) Schwarz G. … Schindelin H. (J. Mol. Biol. 2001) 3 4 23
  4. 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
  5. Gephyrin: where do we stand, where do we go? (PMID: 18403029) Fritschy J.M. … Schwarz G. (Trends Neurosci. 2008) 2 3 23

Products for GPHN Gene

  • Addgene plasmids for GPHN

Sources for GPHN Gene

Back to Top

Content