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Tbio
GPHN
Gephyrin

Protein Summary
Description
Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules. Catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released. 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 know ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000315266
  • ENSP00000312771
  • ENSG00000171723
  • ENST00000478722
  • ENSP00000417901

Symbol
  • GPH
  • KIAA1385
  • GPH
  • GEPH
  • HKPX1
  • GPHRYN
  • MOCODC
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
molecular function
0.93
transcription factor binding site profile
0.91
transcription factor perturbation
0.8
kinase perturbation
0.76
virus perturbation
0.72


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 533.88   (req: < 5)
Gene RIFs: 31   (req: <= 3)
Antibodies: 343   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 533.88   (req: >= 5)
Gene RIFs: 31   (req: > 3)
Antibodies: 343   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 14
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Protein-Protein Interactions (150)
1 – 10 of 150
TSSK1B
Tchem
Family:  Kinase
Novelty:  0.01931035
p_int:  0.999925548
p_ni:  0.000074452
Score:  0.295
Data Source:  BioPlex,STRINGDB
ODF3L2
Tdark
Novelty:  1.4355239
p_int:  0.999879633
p_ni:  0.000120367
Score:  0.534
Data Source:  BioPlex,STRINGDB
PRPF4
Tchem
Novelty:  0.08229072
p_int:  0.999713076
p_ni:  0.000286924
Score:  0.215
Data Source:  BioPlex,STRINGDB
KLKB1
Tclin
Family:  Enzyme
Novelty:  0.00109438
p_int:  0.999519389
p_ni:  0.000480612
Score:  0.332
Data Source:  BioPlex,STRINGDB
KMO
Tchem
Family:  Enzyme
Novelty:  0.01469543
p_int:  0.945680889
p_ni:  0.054319111
Score:  0.454
Data Source:  BioPlex,STRINGDB
LGALS3BP
Tbio
Novelty:  0.0025302
p_int:  0.940734593
p_ni:  0.059265407
Data Source:  BioPlex
ZAR1L
Tdark
Novelty:  0.08793345
p_int:  0.915451096
p_ni:  0.084548904
Data Source:  BioPlex
STS
Tchem
Family:  Enzyme
Novelty:  0.00324549
p_int:  0.777776758
p_ni:  0.222223242
Score:  0.173
Data Source:  BioPlex,STRINGDB
GLRB
Tclin
Family:  IC
Novelty:  0.01721113
Score:  0.997
Data Source:  STRINGDB
MOCS2
Tbio
Family:  Enzyme
Novelty:  0.04174383
Score:  0.993
Data Source:  STRINGDB
Pathways (13)
Metabolism (R-HSA-1430728)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 4 of 4
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Metabolism
Reactome
Metabolism of vitamins and cofactors
Reactome
Metabolism of water-soluble vitamins and cofactors
Reactome
Molybdenum cofactor biosynthesis
Name
Explore in Pharos
Explore in Source
Metabolism
Metabolism of vitamins and cofactors
Metabolism of water-soluble vitamins and cofactors
Molybdenum cofactor biosynthesis
Gene Ontology Terms (24)
Items per page:
10
1 – 6 of 6
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
CAFA
Inferred from Mutant Phenotype (IMP)
CAFA
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
GWAS Traits (2)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
high density lipoprotein cholesterol measurement
1
1
1
81.2
reticulocyte measurement
1
1
1
10.7
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
high density lipoprotein cholesterol measurement
1
81.2
reticulocyte measurement
1
10.7
Find similar targets by:
Orthologs (14)
1 – 5 of 14
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
gephyrin
VGNC:3413
452976
Macaque
gephyrin
709677
Mouse
MGI:109602
268566
Rat
RGD:69194
64845
Dog
gephyrin
VGNC:41380
490739
Species
Name
OMA
EggNOG
Inparanoid
Chimp
gephyrin
Macaque
gephyrin
Mouse
Rat
Dog
gephyrin
Publication Statistics
PubMed Score 533.88
PubMed score by year
PubTator Score 222.57
PubTator score by year