Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: Gphn (gephyrin) Mus musculus
Symbol: Gphn
Name: gephyrin
Description: Predicted to have several functions, including molybdopterin adenylyltransferase activity; molybdopterin cofactor binding activity; and molybdopterin molybdotransferase activity. Involved in Mo-molybdopterin cofactor biosynthetic process; establishment of synaptic specificity at neuromuscular junction; and protein localization to membrane. Localizes to several cellular components, including the GABA-ergic synapse; inhibitory synapse; and postsynaptic specialization, intracellular component. Human ortholog(s) of this gene implicated in inherited metabolic disorder and molybdenum cofactor deficiency type C. Is expressed in several structures, including central nervous system and retina. Orthologous to human GPHN (gephyrin); PARTICIPATES IN Inhibitory synaptic transmission pathway; molybdenum cofactor biosynthetic pathway; INTERACTS WITH 1,1-dichloroethene; 2,3,7,8-tetrachlorodibenzodioxine; 4-hydroxyphenyl retinamide.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: 5730552E08Rik; AI662856; BC027112; C230040D23; geph; GPH; GPHRYN; MGC150066; MGC38765
Homo sapiens (human) : GPHN (gephyrin)  HGNC  Alliance
Rattus norvegicus (Norway rat) : Gphn (gephyrin)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Gphn (gephyrin)
Pan paniscus (bonobo/pygmy chimpanzee) : GPHN (gephyrin)
Canis lupus familiaris (dog) : GPHN (gephyrin)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Gphn (gephyrin)
Sus scrofa (pig) : GPHN (gephyrin)
more info ...
Latest Assembly: GRCm38 - Mouse Genome Assembly GRCm38
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
GRCm38 Ensembl1278,226,379 - 78,684,772 (+)Ensembl
GRCm381278,217,325 - 78,684,772 (+)NCBIGRCm38GRCm38mm10GRCm38
MGSCv371279,327,642 - 79,785,759 (+)NCBIGRCm37mm9NCBIm37
MGSCv361279,145,574 - 79,603,578 (+)NCBImm8
Celera1279,690,472 - 80,148,022 (+)NCBICelera
Cytogenetic Map12 C3NCBI
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
QTLs in Region (GRCm38)
miRNA Target Status



Nucleotide Sequences
Protein Sequences

Additional Information

External Database Links
More on Gphn
Alliance Gene
Ensembl Gene
JBrowse: mm9 mm10
MGI Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1331858
Created: 2005-02-01
Species: Mus musculus
Last Modified: 2020-01-07
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.