Gene

Gphn

Species
Mus musculus
Symbol
Gphn
Name
gephyrin
Synonyms
  • 5730552E08Rik
  • AI662856
Biotype
protein coding gene
Automated Description
Enables molybdopterin molybdotransferase activity. Involved in molybdopterin cofactor biosynthetic process and neurotransmitter receptor localization to postsynaptic specialization membrane. Acts upstream of or within Mo-molybdopterin cofactor biosynthetic process and synapse organization. Located in several cellular components, including inhibitory synapse; postsynaptic density; and synaptic membrane. Is active in GABA-ergic synapse and postsynaptic specialization, intracellular component. Is expressed in several structures, including central nervous system and retina. Human ortholog(s) of this gene implicated in inherited metabolic disorder and molybdenum cofactor deficiency type C. Orthologous to human GPHN (gephyrin).
MGI Description
PHENOTYPE: Mice homozygous for disruption of this gene die within one day of birth, apparently due to an inability to suckle. Apnea also develops within 12 hours of birth. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10192
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCm39
Viewer Help
78.30M78.35M78.40M78.45M78.50M78.55M78.60M78.65M78.70M

Sequence Details

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Expression

Primary Sources
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions