Gphn - gephyrin Gene

Mus musculus

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

Gene ID: 268566 | Gene type: protein coding

About Gphn

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	Reference	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	Reference	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	Reference	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

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

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