| 69194 | Gphn | gephyrin | ENCODES a protein that exhibits identical protein binding; molecular adaptor activity; molybdopterin adenylyltransferase activity; INVOLVED IN establishment of protein localization; Mo-molybdopterin cofactor biosynthetic process; neurotransmitter receptor localization to postsynaptic specialization membrane; PARTICIPATES IN molybdenum cofactor biosynthetic pathway; Inhibitory synaptic transmission pathway; ASSOCIATED WITH alcohol dependence; acute promyelocytic leukemia (ortholog); alcohol use disorder (ortholog); FOUND IN cytoplasm; cytoplasmic side of plasma membrane; GABA-ergic synapse; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,6-dinitrotoluene; acetamide | 6 | 102687405 | 103216679 | Rat | 290 | symbol , PhenoGen | gene, protein-coding, VALIDATED [RefSeq] |
| 69477 | GPHN | gephyrin | 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 biosynthes is. 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] | 14 | 66508147 | 67735355 | Human | 354 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1331858 | Gphn | gephyrin | Enables molybdopterin molybdotransferase activity. Involved in molybdopterin cofactor biosynthetic process and neurotransmitter receptor localization to postsynaptic specialization membrane. Acts upstream of or within Mo-molybdopterin cofactor biosynthetic process and synapse organization. Located i n several cellular components, including inhibitory synapse; postsynaptic density; and synaptic membrane. Is active in GABA-ergic synapse and postsynaptic specialization, intracellular component. Is expressed in several structures, including central nervous system and retina. Human ortholog(s) of this gene implicated in inherited metabolic disorder and molybdenum cofactor deficiency type C. Orthologous to human GPHN (gephyrin). [provided by Alliance of Genome Resources, Jul 2025] | 12 | 78264099 | 78731546 | Mouse | 283 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 8956762 | Gphn | gephyrin | ENCODES a protein that exhibits identical protein binding (ortholog); molecular adaptor activity (ortholog); molybdopterin adenylyltransferase activity (ortholog); INVOLVED IN establishment of protein localization (ortholog); establishment of synaptic specificity at neuromuscular junction (ortholog) ; gamma-aminobutyric acid receptor clustering (ortholog); PARTICIPATES IN Inhibitory synaptic transmission pathway; molybdenum cofactor biosynthetic pathway; ASSOCIATED WITH acute promyelocytic leukemia (ortholog); alcohol dependence (ortholog); alcohol use disorder (ortholog); FOUND IN cytoplasm (ortholog); cytoplasmic side of plasma membrane (ortholog); cytosol (ortholog) | NW_004955466 | 3017474 | 3526375 | Chinchilla | 104 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11863756 | GPHN | gephyrin | ENCODES a protein that exhibits identical protein binding (ortholog); molecular adaptor activity (ortholog); signaling receptor binding (ortholog); INVOLVED IN establishment of protein localization (ortholog); establishment of synaptic specificity at neuromuscular junction (ortholog); gamma-aminobut yric acid receptor clustering (ortholog); PARTICIPATES IN Inhibitory synaptic transmission pathway; molybdenum cofactor biosynthetic pathway; ASSOCIATED WITH acute promyelocytic leukemia (ortholog); alcohol dependence (ortholog); alcohol use disorder (ortholog); FOUND IN cytoplasmic side of plasma membrane (ortholog); cytosol (ortholog); GABA-ergic synapse (ortholog) | 14 | 47081527 | 47755182 | Bonobo | 134 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12141895 | GPHN | gephyrin | ENCODES a protein that exhibits identical protein binding (ortholog); molecular adaptor activity (ortholog); signaling receptor binding (ortholog); INVOLVED IN establishment of protein localization (ortholog); establishment of synaptic specificity at neuromuscular junction (ortholog); gamma-aminobut yric acid receptor clustering (ortholog); PARTICIPATES IN Inhibitory synaptic transmission pathway; molybdenum cofactor biosynthetic pathway; ASSOCIATED WITH acute promyelocytic leukemia (ortholog); alcohol dependence (ortholog); alcohol use disorder (ortholog); FOUND IN cytoplasm (ortholog); cytoplasmic side of plasma membrane (ortholog); GABA-ergic synapse (ortholog) | 8 | 40585625 | 41204007 | Dog | 128 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12647774 | Gphn | gephyrin | ENCODES a protein that exhibits identical protein binding (ortholog); molecular adaptor activity (ortholog); signaling receptor binding (ortholog); INVOLVED IN establishment of protein localization (ortholog); establishment of synaptic specificity at neuromuscular junction (ortholog); gamma-aminobut yric acid receptor clustering (ortholog); PARTICIPATES IN Inhibitory synaptic transmission pathway; molybdenum cofactor biosynthetic pathway; ASSOCIATED WITH acute promyelocytic leukemia (ortholog); alcohol dependence (ortholog); alcohol use disorder (ortholog); FOUND IN cytoplasmic side of plasma membrane (ortholog); cytosol (ortholog); GABA-ergic synapse (ortholog) | NW_004936495 | 9970683 | 10565467 | Squirrel | 130 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18907323 | Gphn | gephyrin | ENCODES a protein that exhibits identical protein binding (ortholog); molecular adaptor activity (ortholog); molybdopterin cofactor binding (ortholog); INVOLVED IN establishment of protein localization (ortholog); establishment of synaptic specificity at neuromuscular junction (ortholog); gamma-amin obutyric acid receptor clustering (ortholog); PARTICIPATES IN Inhibitory synaptic transmission pathway; molybdenum cofactor biosynthetic pathway; ASSOCIATED WITH acute promyelocytic leukemia (ortholog); alcohol dependence (ortholog); alcohol use disorder (ortholog); FOUND IN cytoplasmic side of plasma membrane (ortholog); cytosol (ortholog); dendritic spine (ortholog) | | | | Naked Mole-Rat | 121 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155254097 | gphn | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 14099923 | GPHN | gephyrin | ENCODES a protein that exhibits identical protein binding (ortholog); molecular adaptor activity (ortholog); signaling receptor binding (ortholog); INVOLVED IN establishment of protein localization (ortholog); establishment of synaptic specificity at neuromuscular junction (ortholog); gamma-aminobut yric acid receptor clustering (ortholog); PARTICIPATES IN Inhibitory synaptic transmission pathway; molybdenum cofactor biosynthetic pathway; ASSOCIATED WITH acute promyelocytic leukemia (ortholog); alcohol dependence (ortholog); alcohol use disorder (ortholog); FOUND IN cytoplasm (ortholog); cytoplasmic side of plasma membrane (ortholog); cytosol (ortholog) | | | | Pig | 123 | symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 625959550 | Gphn | gephyrin | ENCODES a protein that exhibits identical protein binding (ortholog); molecular adaptor activity (ortholog); molybdopterin adenylyltransferase activity (ortholog); INVOLVED IN establishment of protein localization (ortholog); establishment of synaptic specificity at neuromuscular junction (ortholog) ; gamma-aminobutyric acid receptor clustering (ortholog); PARTICIPATES IN Inhibitory synaptic transmission pathway; molybdenum cofactor biosynthetic pathway; ASSOCIATED WITH acute promyelocytic leukemia (ortholog); alcohol dependence (ortholog); alcohol use disorder (ortholog); FOUND IN cytoplasm (ortholog); cytoplasmic side of plasma membrane (ortholog); cytosol (ortholog) | | | | Black Rat | 99 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18745296 | GPHN | gephyrin | ENCODES a protein that exhibits identical protein binding (ortholog); molecular adaptor activity (ortholog); signaling receptor binding (ortholog); INVOLVED IN establishment of protein localization (ortholog); establishment of synaptic specificity at neuromuscular junction (ortholog); gamma-aminobut yric acid receptor clustering (ortholog); PARTICIPATES IN Inhibitory synaptic transmission pathway; molybdenum cofactor biosynthetic pathway; ASSOCIATED WITH acute promyelocytic leukemia (ortholog); alcohol dependence (ortholog); alcohol use disorder (ortholog); FOUND IN cytoplasmic side of plasma membrane (ortholog); cytosol (ortholog); GABA-ergic synapse (ortholog) | | | | Green Monkey | 132 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155254096 | gphn.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 155239868 | gphn.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 16566082 | AL049779.3 | gephyrin (GPHN) pseudogene | | | | | Human | | name | gene, processed_pseudogene |
| 16561701 | AL049835.1 | novel transcript, antisense to GPHN | | | | | Human | | name | gene, lncrna |