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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; 1 western clawed frog; 2 zebrafish

HCOP human homology predictions: GPHN
Protein SuperFamily: bifunctional molybdenum cofactor molybdenum incorporation/glycine receptor clustering protein
Gene Tree: Gphn

Human
homologs
GPHN, gephyrin
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 10243
neXtProt AC: NX_Q9NQX3

Human Synonyms: GEPH, GPH, GPHRYN, HKPX1, MOCODC

Human Chr (Location): 14q23.3; chr14:66507407-67181808 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human GPHN

Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Gene trapped(10) Targeted(2)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Gphn (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Gphn interacts with 250 markers (Mir1a-1, Mir1a-2, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (37 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: (20 records)
Data Summary: Results (85)    Tissues (51)    Images (40)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 6
RNA in situ 75
RT-PCR 4
cDNA source data(11)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase gphn ; ZFIN gphna, gphnb    NEW 
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 TC1627778, TC1579545, TC1694053
DoTS DT.532375, DT.101724506, DT.101354241, DT.97368291, DT.91331372, DT.91330461
NIA Mouse Gene Index U014129, U047579, U047575, U034101
EC 2.7.7.75, 2.10.1.1
Consensus CDS Project CCDS26000.1, CCDS49095.1
International Mouse Phenotyping Consortium Status Gphn
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(67) RefSeq(22) 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 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:219376 La Fata G, et al., FMRP regulates multipolar to bipolar transition affecting neuronal migration and cortical circuitry. Nat Neurosci. 2014 Dec;17(12):1693-700
All references(72)
Disease annotation references (1)
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
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last database update
06/30/2015
MGI 5.22
The Jackson Laboratory