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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
  • Alliance
  • Transcription Start Sites
    18 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:78273153-78731546 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 12, 35.51 cM, cytoband D2
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    8168 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109602
protein coding gene Chr12:78264099-78731546 (+)
129S1/SvImJ MGP_129S1SvImJ_G0019870
protein coding gene Chr12:78466533-78946861 (+)
A/J MGP_AJ_G0019828
protein coding gene Chr12:75426381-76115909 (+)
AKR/J MGP_AKRJ_G0019803
protein coding gene Chr12:77721244-78179846 (+)
BALB/cJ MGP_BALBcJ_G0019807
protein coding gene Chr12:75897995-76364006 (+)
C3H/HeJ MGP_C3HHeJ_G0019613
protein coding gene Chr12:78173249-78640634 (+)
C57BL/6NJ MGP_C57BL6NJ_G0020259
protein coding gene Chr12:80804228-81282386 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017877
protein coding gene Chr12:72722944-73142563 (+)
CAST/EiJ MGP_CASTEiJ_G0019163
protein coding gene Chr12:73002088-73471131 (+)
CBA/J MGP_CBAJ_G0019583
protein coding gene Chr12:83915680-84457618 (+)
DBA/2J MGP_DBA2J_G0019699
protein coding gene Chr12:75291462-75742539 (+)
FVB/NJ MGP_FVBNJ_G0019685
protein coding gene Chr12:74109636-74554088 (+)
LP/J MGP_LPJ_G0019771
protein coding gene Chr12:78403308-78878539 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019724
protein coding gene Chr12:86895151-87497099 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0020295
protein coding gene Chr12:77223729-77687514 (+)
PWK/PhJ MGP_PWKPhJ_G0018930
protein coding gene Chr12:69640171-70088695 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018723
protein coding gene Chr12:71704272-72193866 (+)
WSB/EiJ MGP_WSBEiJ_G0019216
protein coding gene Chr12:77816846-78292843 (+)



Homology
more
  • Human Ortholog
    GPHN, gephyrin
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GPHN, gephyrin
  • Synonyms
    GEPH, GPH, GPHRYN, HKPX1, MOCODC
  • Links
    NCBI Gene ID: 10243
    neXtProt AC: NX_Q9NQX3
    UniProt: Q9NQX3

  • Chr Location
    14q23.3-q24.1; chr14:66507407-67735355 (+)  GRCh38

Human Diseases
more
  • Diseases
    2 with human GPHN associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    15 phenotypes from 2 alleles in 3 genetic backgrounds
    21 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.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
  • Comparison Matrix
  • Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000047454 Ensembl Gene Model | MGI Sequence Detail 458394 C57BL/6J ±  kb
    transcript ENSMUST00000110388 Ensembl | MGI Sequence Detail 3300 Not Applicable  
    polypeptide ENSMUSP00000106018 Ensembl | MGI Sequence Detail 772 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 16
      Genomic 1
      cDNA 14
      Primer pair 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-39601, MGI:1917919, MGI:2144880, MGI:2384824
    References
    more
    • Summaries
      All 116
      Developmental Gene Expression 41
      Gene Ontology 23
      Phenotypes 21
    • 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:355330 Neumann E, et al., gamma1 GABA(A) Receptors in Spinal Nociceptive Circuits. J Neurosci. 2024 Oct 9;44(41)

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    last database update
    11/19/2024
    MGI 6.24
    The Jackson Laboratory