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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, MOCODC
Human Chr (Location)  14q23.3; chr14:66507407-67181808 (+)  GRCh38
Disease Associations  (2) 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: (33 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 TypeResults
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 ModelENSMUSG00000047454 (Evidence)
Entrez Gene268566 (Evidence)
DFCITC1579545, TC1627778, TC1694053
DoTSDT.101354241, DT.101724506, DT.532375, DT.91330461, DT.91331372, DT.97368291
NIA Mouse Gene IndexU014129, U034101, U047575, U047579
EC2.10.1.1, 2.7.7.75
Consensus CDS ProjectCCDS26000.1, CCDS49095.1
International Mouse Knockout Project StatusGphn
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000047454 Ensembl Gene Model | MGI Sequence Detail 458113 C57BL/6J ±  kb
transcript ENSMUST00000110388 Ensembl | MGI Sequence Detail 3298 Not Applicable 
polypeptide ENSMUSP00000106018 Ensembl | MGI Sequence Detail 772 Not Applicable 

For the selected sequences
All sequences(69) RefSeq(24) UniProt(5)
Polymorphisms SNPs within 2kb(969 from dbSNP Build 137)    SNPs within 2kb including multiple locations(977)
Protein-related
information
ResourceIDDescription
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 domain
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(66)
Other
accession IDs
MGD-MRK-39601, MGI:1917919, MGI:2144880, MGI:2384824

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory