Gphn
Gene Detail

Symbol Name ID

Gphn gephyrin MGI:109602

Synonyms

5730552E08Rik, geph, MGC:38765

Feature Type

protein coding gene

Genetic Map

Chromosome 12

35.51 cM, cytoband D2
Detailed Genetic Map ± 1 cM


Mapping data(3)

Sequence Map

Chr12:78226655-78684767 bp, + strand From Ensembl annotation of GRCm38   458113 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:10820  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 2 zebrafish

Protein SuperFamily: bifunctional molybdenum cofactor molybdenum incorporation/glycine receptor clustering protein
Gene Tree: Gphn

Human homologs

Human Homolog		GPHN, gephyrin
NCBI Gene ID		10243
neXtProt AC		NX_Q9NQX3
Human Synonyms		GEPH, GPH, GPHRYN, HKPX1
Human Chr (Location)		14q23.3; chr14:66974125-67648525 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human GPHN

Alleles and phenotypes

All alleles(12) : Targeted(2) Gene trapped(10)
 

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.

 
Human Diseases Modeled Using Mouse Gphn (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (27 annotations)

Process	establishment of protein localization, establishment of synaptic specificity at neuromuscular junction, ...
Component	cell junction, cytoplasm, ...
Function	ATP binding, catalytic activity, ...

External Resources: FuncBase

Expression

Literature Summary: (17 records)
Data Summary: Results (85)    Tissues (49)    Images (40)
Theiler Stages: 10, 18, 19, 20, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	6
RNA in situ	75
RT-PCR	4

cDNA source data(11)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(15) Genomic(1) cDNA(13) Primer pair(1)
Microarray probesets(6)

Other database links

Ensembl Gene Model	ENSMUSG00000047454 (Evidence)
Entrez Gene	268566 (Evidence)
DFCI	TC1579545, TC1627778, TC1694053
DoTS	DT.101354241, DT.101724506, DT.532375, DT.91330461, DT.91331372, DT.97368291
NIA Mouse Gene Index	U014129, U034101, U047575, U047579
EC	2.10.1.1, 2.7.7.75
Consensus CDS Project	CCDS26000.1, CCDS49095.1
International Mouse Knockout Project Status	Gphn

Sequences

Length	Strain/Species
genomic	ENSMUSG00000047454	Ensembl Gene Model | MGI Sequence Detail	458113	C57BL/6J
transcript	ENSMUST00000110388	Ensembl | MGI Sequence Detail	3298	Not Applicable
polypeptide	ENSMUSP00000106018	Ensembl | MGI Sequence Detail	772	Not Applicable

All sequences(49) RefSeq(4) UniProt(5)

Polymorphisms

SNPs(812 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR005111	MoeA, C-terminal, domain IV
InterPro	IPR005110	MoeA, N-terminal and linker domain
InterPro	IPR008284	Molybdenum cofactor biosynthesis, conserved site
InterPro	IPR020817	Molybdenum cofactor synthesis
InterPro	IPR001453	Molybdopterin binding
Protein Ontology	PR:000008174	gephyrin

References

(Earliest) J:39354 Ramming M, et al., Analysis of the promoter region of the murine gephyrin gene. FEBS Lett. 1997 Mar 24;405(2):137-40
(Latest) J:188382 van Versendaal D, et al., Elimination of inhibitory synapses is a major component of adult ocular dominance plasticity. Neuron. 2012 Apr 26;74(2):374-83
All references(65)

Other accession IDs

MGD-MRK-39601, MGI:1917919, MGI:2144880, MGI:2384824