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 |
|---|---|---|---|---|---|
Namegephyrin OMIM IDMIM:603930 Ensembl IDEnsembl:ENSG00000171723 HGNC IDHGNC:HGNC:15465 PHARMGKB IDPA28840 Map Location14q23.3-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 |
Gene expression in normal tissue: GPHN
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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GPHN
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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