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 hyp... See more...

Aliases for GPHN Gene

Aliases for GPHN Gene

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

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, Complementation Group C and Hyperekplexia. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Folate biosynthesis. Gene Ontology (GO) annotations related to this gene include transferase activity and molybdopterin molybdotransferase activity.

UniProtKB/Swiss-Prot Summary 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). Acts as a major instructive molecule at inhibitory synapses, where it also clusters GABA type A receptors (PubMed:25025157, PubMed:26613940).
  • Has also a catalytic activity and 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GPHN Gene

Genomics for GPHN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GPHN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J066506 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +1.2 1180 3.6 BCLAF1 SP1 MYC ZNF600 ZNF580 CEBPA POLR2A BRCA1 ZIC2 ZBTB10 ENSG00000258561 GPHN HSALNG0102001 ATP6V1D PLEK2 EIF2S1 FAM71D
GH14J067357 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.9 +851.9 851894 6.2 BCLAF1 SP1 ZNF654 ZNF207 NCOR1 MYC ZNF600 IKZF1 JUND ZNF580 ATP6V1D EIF2S1 lnc-PLEK2-1 ZFYVE26 PLEK2 ENSG00000258561 GPHN HSALNG0102025 PALS1
GH14J067238 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.7 +733.9 733851 5.9 SP1 ZNF207 ZNF600 ATF2 POLR2A JUND BRCA1 ZIC2 ZBTB10 YY1 PALS1 lnc-ATP6V1D-4 lnc-FAM71D-1 ATP6V1D EIF2S1 GPHN ENSG00000258561
GH14J066483 Enhancer 0.7 ENCODE 12.3 -23.8 -23849 0.2 ATF3 YY1 CEBPB FOXA2 RXRA ZBTB33 JUND HNF4A FOXA1 RAD21 ATP6V1D GPHN NONHSAG015258.2 piR-30160-001 ENSG00000258561 CCDC196
GH14J066402 Enhancer 0.5 Ensembl 16.7 -104.1 -104119 0.6 CTCF RAD21 SMC3 ZNF384 GABPA GPHN HSALNG0102003 CCDC196 HSALNG0102002 ENSG00000258561 lnc-CCDC196-3 FUT8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GPHN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GPHN

Top Transcription factor binding sites by QIAGEN in the GPHN gene promoter:
  • AML1a
  • ATF-2
  • c-Rel
  • CUTL1
  • FOXI1
  • HFH-3
  • Ik-3
  • Nkx6-1
  • Pax-4a

Genomic Locations for GPHN Gene

Latest Assembly
chr14:66,507,407-67,181,805
(GRCh38/hg38)
Size:
674,399 bases
Orientation:
Plus strand

Previous Assembly
chr14:66,974,865-67,648,520
(GRCh37/hg19 by Entrez Gene)
Size:
673,656 bases
Orientation:
Plus strand

chr14:66,974,125-67,648,520
(GRCh37/hg19 by Ensembl)
Size:
674,396 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:
    • Q96KU4
    • 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, homodimer and homooligomer (PubMed:26613940). 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). GABRA3 and GLRB occupy overlapping binding sites (By similarity). Interacts with ARHGAP32; IQSEC3, INSYN1 and INSYN2A (By similarity).
    SequenceCaution:
    • Sequence=BAA92623.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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

Post-translational modifications for GPHN Gene

  • Palmitoylated (PubMed:25025157). Palmitoylation is stimulated by GABA type A receptors activity (By similarity). Palmitoylation by ZDHHC12 regulates clustering at synapses (PubMed:25025157).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GPHN Gene

Domains & Families for GPHN Gene

Gene Families for GPHN Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for GPHN Gene

InterPro:
Blocks:
  • Molybdenum cofactor biosynthesis protein
  • Molybdenum cofactor biosynthesis protein, N-terminal

Suggested Antigen Peptide Sequences for GPHN Gene

GenScript: Design optimal peptide antigens:
  • Gephyrin (GEPH_HUMAN)
  • Gephyrin (Q96KU4_HUMAN)

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

Function for GPHN Gene

Molecular function for GPHN Gene

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). Acts as a major instructive molecule at inhibitory synapses, where it also clusters GABA type A receptors (PubMed:25025157, PubMed:26613940).
UniProtKB/Swiss-Prot Function:
Has also a catalytic activity and 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H(+) + molybdopterin = adenylyl-molybdopterin + diphosphate; Xref=Rhea:RHEA:31331, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:58698, ChEBI:CHEBI:62727; EC=2.7.7.75; Evidence={ECO:0000305|PubMed:26613940};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=adenylyl-molybdopterin + H(+) + molybdate = AMP + H2O + Mo-molybdopterin; Xref=Rhea:RHEA:35047, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:36264, ChEBI:CHEBI:62727, ChEBI:CHEBI:71302, ChEBI:CHEBI:456215; EC=2.10.1.1; Evidence={ECO:0000305|PubMed:22040219, ECO:0000305|PubMed:26613940};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by copper and tungsten.

Phenotypes From GWAS Catalog for GPHN Gene

Gene Ontology (GO) - Molecular Function for GPHN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003824 catalytic activity IEA --
GO:0005515 protein binding IPI 21094642
GO:0005524 ATP binding IEA --
GO:0008940 nitrate reductase activity IMP 9990024
genes like me logo Genes that share ontologies with GPHN: view
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:

miRNA for GPHN Gene

miRTarBase miRNAs that target GPHN

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPHN

No data available for Enzyme Numbers (IUBMB) , 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, postsynaptic cell membrane. Lipid-anchor. Cytoplasmic side. Cell membrane. Lipid-anchor. Cytoplasmic side. Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Cell projection, dendrite. Cell junction, synapse, postsynaptic density. Note=Cytoplasmic face of glycinergic postsynaptic membranes (By similarity). Forms clusters at synapses (PubMed:25025157). {ECO:0000250 UniProtKB:Q03555, ECO:0000269 PubMed:25025157}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GPHN gene
Compartment Confidence
plasma membrane 5
cytosol 5
cytoskeleton 4
extracellular 2
nucleus 2
golgi apparatus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytoplasmic bodies (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GPHN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol IBA,ISS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane TAS --
GO:0014069 postsynaptic density ISS --
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:0006777 Mo-molybdopterin cofactor biosynthetic process IEA,IBA 21873635
GO:0007529 establishment of synaptic specificity at neuromuscular junction IBA 21873635
GO:0008152 metabolic process IEA --
GO:0010038 response to metal ion IMP 9990024
GO:0018315 molybdenum incorporation into molybdenum-molybdopterin complex IBA 21873635
genes like me logo Genes that share ontologies with GPHN: view

Drugs & Compounds for GPHN Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
propanoic acid Approved, Vet_approved Pharma Target 0
Molybdenum Approved Pharma 31
Copper Approved, Investigational Pharma 276
Magnesium Approved, Experimental, Investigational Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Adenylyl-molybdopterin
  • Adenylated molybdopterin
  • MPT-AMP
  • Adenylyl-molybdopterin
  • H2Dtpp-mADP
  • Molybdopterin adenine dinucleotide
220456-66-6
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
Tungsten
  • W(4+)
  • Tungsten ion
  • Tunsten
  • Wolfram
  • Wolframium
7440-33-7
genes like me logo Genes that share compounds with GPHN: view

Transcripts for GPHN Gene

mRNA/cDNA for GPHN Gene

8 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPHN

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

Expression for GPHN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for GPHN Gene



Protein tissue co-expression partners for GPHN Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GPHN

SOURCE GeneReport for Unigene cluster for GPHN Gene:

Hs.208765

Evidence on tissue expression from TISSUES for GPHN Gene

  • Nervous system(4.9)
  • Kidney(4.5)
  • Liver(4.4)
  • Eye(2.6)
  • Skin(2.5)
  • Muscle(2.2)
  • Thyroid gland(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GPHN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • mouth
  • neck
  • pharynx
Thorax:
  • bronchus
  • chest wall
  • heart
  • lung
  • trachea
Abdomen:
  • abdominal wall
  • intestine
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • femur
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
General:
  • blood vessel
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with GPHN: view

Primer products for research

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 29 30
  • 99.82 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GPHN 30
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia GPHN 29 30
  • 96.32 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GPHN 29 30
  • 95.88 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gphn 29
  • 94.47 (n)
Mouse
(Mus musculus)
Mammalia Gphn 29 16 30
  • 94.15 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GPHN 30
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GPHN 29 30
  • 88.18 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GPHN 30
  • 93 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gphn 29
  • 76.88 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.29239 29
Zebrafish
(Danio rerio)
Actinopterygii gphnb 29 30
  • 76.4 (n)
OneToOne
wufj59a01 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12530 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002800 29
  • 48.65 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta cin 29 30 31
  • 48.2 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea moc-2 30 31
  • 43 (a)
OneToMany
moc-1 30
  • 37 (a)
OneToMany
lin-46 30
  • 30 (a)
OneToMany
Barley
(Hordeum vulgare)
Liliopsida Hv.12358 29
Bread mold
(Neurospora crassa)
Ascomycetes NCU09746 29
  • 50.32 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 43 (a)
OneToMany
-- 30
  • 37 (a)
OneToMany
Species where no ortholog for GPHN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GPHN: view image
Alliance of Genome Resources:
Additional Orthologs for GPHN

Paralogs for GPHN Gene

(2) SIMAP similar genes for GPHN Gene using alignment to 10 proteins:

  • GEPH_HUMAN
  • F5H039_HUMAN
  • F8W7D6_HUMAN
  • G3V355_HUMAN
  • G3V4D2_HUMAN
  • G3V4R0_HUMAN
  • G3V582_HUMAN
  • H0YIY4_HUMAN
  • H0YJ30_HUMAN
  • H0YJR5_HUMAN

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GPHN Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
1003704 Uncertain Significance: Molybdenum cofactor deficiency, complementation group C 66,824,571(+) G/A
NM_020806.5(GPHN):c.294+5G>A
INTRON
1005804 Uncertain Significance: Molybdenum cofactor deficiency, complementation group C 67,143,432(+) G/A
NM_020806.5(GPHN):c.1819G>A (p.Val607Ile)
MISSENSE
1007658 Uncertain Significance: Molybdenum cofactor deficiency, complementation group C 67,110,174(+) G/A
NM_020806.5(GPHN):c.1328G>A (p.Arg443Gln)
MISSENSE
1007857 Uncertain Significance: Molybdenum cofactor deficiency, complementation group C 67,179,674(+) G/A
NM_020806.5(GPHN):c.2176G>A (p.Gly726Ser)
MISSENSE
1009436 Uncertain Significance: Molybdenum cofactor deficiency, complementation group C 66,776,468(+) G/A
NM_020806.5(GPHN):c.148G>A (p.Gly50Ser)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GPHN Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv1927n100 CNV loss 25217958
dgv1928n100 CNV loss 25217958
dgv3734n54 CNV loss 21841781
dgv3735n54 CNV loss 21841781
dgv643e212 CNV loss 25503493
dgv644e212 CNV loss 25503493
dgv645e212 CNV loss 25503493
dgv646e212 CNV loss 25503493
esv1426305 CNV insertion 17803354
esv2517679 CNV deletion 19546169
esv2657966 CNV deletion 23128226
esv2670854 CNV deletion 23128226
esv2671185 CNV deletion 23128226
esv2671863 CNV deletion 23128226
esv2748779 CNV deletion 23290073
esv2748803 CNV deletion 23290073
esv2751285 CNV gain 17911159
esv2761840 CNV loss 21179565
esv2761841 CNV loss 21179565
esv2763071 CNV loss 21179565
esv3305553 CNV mobile element insertion 20981092
esv3328668 CNV insertion 20981092
esv3581234 CNV loss 25503493
esv3581248 CNV loss 25503493
esv3581251 CNV loss 25503493
esv3581252 CNV loss 25503493
esv3581253 CNV loss 25503493
esv3581254 CNV loss 25503493
esv3634788 CNV loss 21293372
esv3634789 CNV loss 21293372
esv3634790 CNV loss 21293372
esv3634794 CNV loss 21293372
esv3634795 CNV gain 21293372
esv3634799 CNV loss 21293372
esv3634800 CNV loss 21293372
esv7064 OTHER inversion 19470904
esv997182 CNV deletion 20482838
esv998272 CNV insertion 20482838
nsv1038122 CNV loss 25217958
nsv1051980 CNV loss 25217958
nsv1052677 CNV loss 25217958
nsv1315 CNV insertion 18451855
nsv1316 CNV insertion 18451855
nsv1317 CNV insertion 18451855
nsv510640 CNV deletion 20534489
nsv510641 CNV deletion 20534489
nsv524441 CNV loss 19592680
nsv525460 CNV loss 19592680
nsv528657 CNV loss 19592680
nsv564953 CNV gain 21841781
nsv564954 CNV loss 21841781
nsv564957 CNV loss 21841781
nsv564960 CNV loss 21841781
nsv832821 CNV gain 17160897
nsv85250 CNV insertion 16902084
nsv85719 CNV insertion 16902084
nsv976348 CNV duplication 23825009
nsv977478 CNV duplication 23825009
nsv977479 CNV duplication 23825009

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)

Additional Variant Information for GPHN Gene

Human Gene Mutation Database (HGMD)
GPHN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPHN
Leiden Open Variation Database (LOVD)
GPHN

SNP Genotyping and Copy Number Assays for research

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

Disorders for GPHN Gene

MalaCards: The human disease database

(25) MalaCards diseases for GPHN Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
molybdenum cofactor deficiency, complementation group c
  • mocodc
hyperekplexia
  • congenital stiff man syndrome
hyperekplexia 1
  • hkpx1
sulfite oxidase deficiency, isolated
  • isod
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 variants affecting the gene represented in this entry.

Additional Disease Information for GPHN

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GPHN: view

No data available for Genatlas for GPHN Gene

Publications for GPHN Gene

  1. Gephyrin: where do we stand, where do we go? (PMID: 18403029) Fritschy JM … Schwarz G (Trends in neurosciences 2008) 2 3 22
  2. Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia. (PMID: 12684523) Rees MI … Snell RG (The Journal of biological chemistry 2003) 3 4 22
  3. A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency. (PMID: 11095995) Reiss J … Schwarz G (American journal of human genetics 2001) 3 4 22
  4. The human gephyrin (GPHN) gene: structure, chromosome localization and expression in non-neuronal cells. (PMID: 11418245) David-Watine B (Gene 2001) 3 4 22
  5. Crystal structures of human gephyrin and plant Cnx1 G domains: comparative analysis and functional implications. (PMID: 11554796) Schwarz G … Schindelin H (Journal of molecular biology 2001) 3 4 22

Products for GPHN Gene

Sources for GPHN Gene