Gphn - gephyrin Gene

Also Known as GPH; geph; GPHRYN; C230040D23; 5730552E08Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 268566

Summary

Predicted to enable several functions, including molybdopterin adenylyltransferase activity; molybdopterin cofactor binding activity; and molybdopterin molybdotransferase activity. Involved in neurotransmitter receptor localization to postsynaptic specialization membrane. Acts upstream of or within Mo-molybdopterin cofactor biosynthetic process; postsynaptic neurotransmitter receptor diffusion trapping; and synapse organization. Located in several cellular components, including inhibitory synapse; neuronal cell body; and postsynaptic specialization. Is anchored component of synaptic membrane. Is active in GABA-ergic synapse. 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, Apr 2022]

Gphn Products (2)

mRNA Protein Name
NM_145965.2 NP_666077.2 gephyrin isoform 1
NM_172952.3 NP_766540.2 gephyrin isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables molybdopterin molybdotransferase activity IMP
IMP: Inferred from mutant phenotype
18411266 MGI
enables protein binding IPI
IPI: Inferred from physical interaction
17347650 MGI
Biological Process GO Annotation Evidence References Source
acts upstream of or within Mo-molybdopterin cofactor biosynthetic process IMP
IMP: Inferred from mutant phenotype
9812897 MGI
acts upstream of or within establishment of synaptic specificity at neuromuscular junction IMP
IMP: Inferred from mutant phenotype
10531433 MGI
acts upstream of or within gamma-aminobutyric acid receptor clustering IGI
IGI: Inferred from genetic interaction
19723286 MGI
acts upstream of or within glycine receptor clustering IMP
IMP: Inferred from mutant phenotype
9812897 MGI
involved in molybdopterin cofactor biosynthetic process IMP
IMP: Inferred from mutant phenotype
12565882 MGI
involved in neurotransmitter receptor localization to postsynaptic specialization membrane IDA
IDA: Inferred from direct assay
10531433 MGI
involved in neurotransmitter receptor localization to postsynaptic specialization membrane IMP
IMP: Inferred from mutant phenotype
10531433 MGI
Cellular Component GO Annotation Evidence References Source
is active in GABA-ergic synapse IDA
IDA: Inferred from direct assay
10531433 MGI
located in GABA-ergic synapse IDA
IDA: Inferred from direct assay
29107521 MGI
is active in GABA-ergic synapse IMP
IMP: Inferred from mutant phenotype
10531433 MGI
is active in cytosol IDA
IDA: Inferred from direct assay
18411266 MGI
located in cytosol IDA
IDA: Inferred from direct assay
25025157 MGI
located in dendrite IDA
IDA: Inferred from direct assay
24554721 MGI
located in inhibitory synapse IDA
IDA: Inferred from direct assay
9812897 MGI
located in intracellular anatomical structure IDA
IDA: Inferred from direct assay
17145751 MGI
located in neuronal cell body IDA
IDA: Inferred from direct assay
24554721 MGI
located in postsynapse IDA
IDA: Inferred from direct assay
24554721 MGI
located in postsynaptic density IDA
IDA: Inferred from direct assay
27609886 MGI
is active in postsynaptic specialization, intracellular component IDA
IDA: Inferred from direct assay
19955355 MGI
located in synaptic membrane IDA
IDA: Inferred from direct assay
25025157 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

gephyrin

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS05638 GPHN Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Gphn NCBI NCBI:10243