GPHN gephyrin
Gene ID: 10243, updated on 3-Apr-2024Gene type: protein coding
Also known as: GPH; GEPH; HKPX1; GPHRYN; MOCODC
- See all available tests in GTR for this gene
- Go to complete Gene record for GPHN
- Go to Variation Viewer for GPHN variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of depressive symptoms. GeneReviews: Not available | |
| Hyperekplexia 1 | See labs |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency Some evidence for dosage pathogenicity (Last evaluated 2022-06-22) ClinGen Genome Curation PagePubMedTriplosensitivity No evidence available (Last evaluated 2022-06-22) ClinGen Genome Curation Page |
Genomic context
- Location:
- 14q23.3-q24.1
- Sequence:
- Chromosome: 14; NC_000014.9 (66508147..67735355)
- Total number of exons:
- 29
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GPHN variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GPHN database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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