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GPHN

Summary: 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].

Name	OMIM ID	Ensembl ID	HGNC ID	PHARMGKB ID	Map Location
gephyrin	MIM:603930	Ensembl:ENSG00000171723	HGNC:HGNC:15465	PA28840	14q23.3-q24.1

GO terms in GPHN

Term Type	Evidence Type	GO Term ID	GO Des.
BP	IBA	GO:0006777	Mo-molybdopterin cofactor biosynthetic process
BP	IBA	GO:0007529	establishment of synaptic specificity at neuromuscular junction
BP	IMP	GO:0010038	response to metal ion
BP	IBA	GO:0018315	molybdenum incorporation into molybdenum-molybdopterin complex
BP	IBA	GO:0032324	molybdopterin cofactor biosynthetic process
BP	IDA	GO:0032324	molybdopterin cofactor biosynthetic process
BP	IMP	GO:0032324	molybdopterin cofactor biosynthetic process
BP	TAS	GO:0032324	molybdopterin cofactor biosynthetic process
BP	IEA	GO:0055114	oxidation-reduction process
BP	IBA	GO:0072579	glycine receptor clustering
BP	IBA	GO:0097112	gamma-aminobutyric acid receptor clustering
BP	IDA	GO:0097112	gamma-aminobutyric acid receptor clustering
BP	IBA	GO:0098970	postsynaptic neurotransmitter receptor diffusion trapping
CC	IBA	GO:0005737	cytoplasm
CC	IBA	GO:0005829	cytosol
CC	IEA	GO:0005856	cytoskeleton
CC	TAS	GO:0005886	plasma membrane
CC	IEA	GO:0030054	cell junction
CC	IBA	GO:0030425	dendrite
CC	IDA	GO:0030425	dendrite
CC	IBA	GO:0045211	postsynaptic membrane
CC	IDA	GO:0045211	postsynaptic membrane
CC	IBA	GO:0099572	postsynaptic specialization
MF	IPI	GO:0005515	protein binding
MF	IEA	GO:0005524	ATP binding
MF	IMP	GO:0008940	nitrate reductase activity
MF	IDA	GO:0043546	molybdopterin cofactor binding
MF	IEA	GO:0046872	metal ion binding
MF	IBA	GO:0061598	molybdopterin adenylyltransferase activity
MF	IBA	GO:0061599	molybdopterin molybdotransferase activity
MF	TAS	GO:0061599	molybdopterin molybdotransferase activity

Gene expression in normal tissue: GPHN

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Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in GPHN

Database	Pathway ID	Pathway Des.
wikipathways	WP4148	Splicing factor NOVA regulated synaptic proteins
wikipathways	WP4159	GABA receptor Signaling
kegg	hsa00790	Folate biosynthesis - Homo sapiens (human)
kegg	hsa04727	GABAergic synapse - Homo sapiens (human)
humancyc	PWY-6823	molybdenum cofactor biosynthesis
biocarta	gabapathway	gamma-aminobutyric acid receptor life cycle pathway
reactome	R-HSA-1430728	Metabolism
reactome	R-HSA-196849	Metabolism of water-soluble vitamins and cofactors
reactome	R-HSA-196854	Metabolism of vitamins and cofactors
reactome	R-HSA-947581	Molybdenum cofactor biosynthesis

Gene-Drug: Aster Plot

Drug ID	Drug Name	Model Num.
iGMDRD280	CYTOCHALASIN B	3
iGMDRD297	Austocystin D	8
iGMDRD154	NSC23766	1
iGMDRD341	Triacsin c	3
iGMDRD152	179324-69-7	6
iGMDRD61	Kinetin riboside	6
iGMDRD57	Chloropentafluorobenzene	6
iGMDRD351	GW843682X	2
iGMDRD150	RITA	3
iGMDRD116	CD437	8
iGMDRD781	Sirolimus	4
iGMDRD512	nutlin 3	3
iGMDRD60	Quinoclamine	3
iGMDRD42	Vorinostat	3
iGMDRD286	Nsc 632839	6
iGMDRD414	MST-312	8
iGMDRD366	PI-103	5
iGMDRD398	Sepantronium	3
iGMDRD780	PP-30	2
iGMDRD562	Navitoclax	3
iGMDRD434	BMS-536924	3

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in GPHN

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