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Gphn Gene Detail
Summary
  • Symbol
    Gphn
  • Name
    gephyrin
  • Synonyms
    5730552E08Rik, geph, MGC:38765
  • Feature Type
    protein coding gene
  • IDs
    MGI:109602
    NCBI Gene: 268566
  • Gene Overview
    MyGene.info: GPHN
Location & Maps
more
  • Sequence Map
    Chr12:78226655-78684767 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      458113 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 35.51 cM, cytoband D2
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    GPHN, gephyrin
  • Vertebrate Orthologs
    11
  • Human Ortholog
    GPHN, gephyrin
    Orthology source: HGNC, HomoloGene
  • Synonyms
    GEPH, GPH, GPHRYN, HKPX1, MOCODC
  • Links
    NCBI Gene ID: 10243
    neXtProt AC: NX_Q9NQX3

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

Human Diseases
more
  • Diseases
    1 with Gphn mouse models; 2 with human GPHN associations

Human Disease Mouse Models
       Molybdenum Cofactor Deficiency, Complementation Group C; MOCODC   OMIM: 615501 View 1 model
       Hyperekplexia, Hereditary 1; HKPX1   OMIM: 149400
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    15 phenotypes from 2 alleles in 3 genetic backgrounds
    16 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    14
  • Chemically induced (other)
    1
  • Gene trapped
    10
  • Targeted
    2
  • Transgenic
    1
  • Genomic Mutations
    1 involving Gphn
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    960 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 15
    Genomic 1
    cDNA 13
    Primer pair 1

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-39601, MGI:1917919, MGI:2144880, MGI:2384824
References
more
  • Summaries
    All 75
    Developmental Gene Expression 21
    Diseases 1
    Gene Ontology 15
    Phenotypes 16
  • 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:228720 Fogarty MJ, et al., Glycinergic Neurotransmission: A Potent Regulator of Embryonic Motor Neuron Dendritic Morphology and Synaptic Plasticity. J Neurosci. 2016 Jan 6;36(1):80-7

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
08/23/2016
MGI 6.05
The Jackson Laboratory