AlphaFold predicted structure
GPHN · Q9NQX3
Mean pLDDT
83.8/ 100
Confident
736 residues
Confidence breakdown
- Very high(≥ 90)72%
- Confident(70–90)9%
- Low(50–70)2%
- Very low(< 50)17%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
GPHN
Chr 14q23.3gephyrin
- Aliases:
- KIAA1385, GEPH, GPH
- MANE:
- ENST00000478722.6
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalLikely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
DDG2P
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Disease associations (Open Targets)
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
0.77hereditary hyperekplexia
0.48encephalopathy due to sulfite oxidase deficiency
0.42genetic developmental and epileptic encephalopathy
0.39developmental and epileptic encephalopathy
0.37post term pregnancy
0.29alcohol drinking
0.28urolithiasis
0.28cervical carcinoma
0.26infectious meningitis
0.26
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Gephyrin
Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules (By similarity). Acts as a major instructive molecule at inhibitory synapses, where it also clusters GABA type A receptors (PubMed:25025157, PubMed:26613940)
Diseases associated with GPHN
Curated MONDO disease pages that list GPHN among their top associated genes.