ENSMUSG00000047454


Mus musculus

Features
Gene ID: ENSMUSG00000047454
  
Biological name :Gphn
  
Synonyms : gephyrin / Gphn / Q8BUV3
  
Possible biological names infered from orthology : Q9NQX3
  
Species: Mus musculus
  
Chr. number: 12
Strand: 1
Band: C3
Gene start: 78226379
Gene end: 78684772
  
Corresponding Affymetrix probe sets: 10396740 (MoGene1.0st)   1426462_at (Mouse Genome 430 2.0 Array)   1426463_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000054064
Ensembl peptide - ENSMUSP00000106018
NCBI entrez gene - 268566     See in Manteia.
MGI - MGI:109602
RefSeq - XM_017315079
RefSeq - NM_145965
RefSeq - NM_172952
RefSeq - XM_017315075
RefSeq - XM_017315076
RefSeq - XM_017315077
RefSeq - XM_017315078
RefSeq - XM_006515899
RefSeq - XM_006515900
RefSeq - XM_006515901
RefSeq - XM_006515902
RefSeq - XM_006515903
RefSeq - XM_006515904
RefSeq - XM_006515905
RefSeq - XM_006515906
RefSeq - XM_006515907
RefSeq - XM_017315073
RefSeq - XM_017315074
RefSeq Peptide - NP_666077
RefSeq Peptide - NP_766540
swissprot - Q8BUV3
swissprot - A0JNY3
Ensembl - ENSMUSG00000047454
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gphnaENSDARG00000089076Danio rerio
 gphnbENSDARG00000100851Danio rerio
 GPHNENSGALG00000009587Gallus gallus
 GPHNENSG00000171723Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001453  MoaB/Mog domain
 IPR005110  MoeA, N-terminal and linker domain
 IPR005111  MoeA, C-terminal, domain IV
 IPR008284  Molybdenum cofactor biosynthesis, conserved site
 IPR036135  MoeA, N-terminal and linker domain superfamily
 IPR036425  MoaB/Mog-like domain superfamily
 IPR036688  MoeA, C-terminal, domain IV superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006777 Mo-molybdopterin cofactor biosynthetic process IEA
 biological_processGO:0007529 establishment of synaptic specificity at neuromuscular junction IMP
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0010038 response to metal ion IEA
 biological_processGO:0018315 molybdenum incorporation into molybdenum-molybdopterin complex IBA
 biological_processGO:0032324 molybdopterin cofactor biosynthetic process IEA
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0072579 glycine receptor clustering IMP
 biological_processGO:0097112 gamma-aminobutyric acid receptor clustering IEA
 biological_processGO:0098880 maintenance of postsynaptic specialization structure IC
 biological_processGO:0098970 postsynaptic neurotransmitter receptor diffusion trapping IEP
 cellular_componentGO:0005622 intracellular IDA
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0019897 extrinsic component of plasma membrane TAS
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043025 neuronal cell body IDA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0045211 postsynaptic membrane IEA
 cellular_componentGO:0060077 inhibitory synapse ISO
 cellular_componentGO:0098794 postsynapse IDA
 cellular_componentGO:0099572 postsynaptic specialization ISS
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008092 cytoskeletal protein binding TAS
 molecular_functionGO:0008940 nitrate reductase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0043546 molybdopterin cofactor binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0061598 molybdopterin adenylyltransferase activity IBA
 molecular_functionGO:0061599 molybdopterin molybdotransferase activity IBA
 molecular_functionGO:0098879 structural constituent of postsynaptic specialization IC


Pathways (from Reactome)
Pathway description
Molybdenum cofactor biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000937 abnormal motor neuron morphology "malformation or absence of cells that innervate an effector (muscle or glandular) tissue; responsible for transmission of motor impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
Show

Allelic Composition: Ascl1tm1And/Ascl1tm1And
Genetic Background: involves: 129/Sv

Allelic Composition: Gphntm1Jrs/Gphntm1Jrs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000938 motor neuron degeneration "retrogressive impairment of function or destruction of the cells that innervate an effector (muscle or glandular) tissue" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gphntm1Jrs/Gphntm1Jrs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000939 reduced motor neuron number "fewer than normal numbers of cells that innervate an effector (muscle or glandular) tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
Show

Allelic Composition: Gphntm1Jrs/Gphntm1Jrs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001053 abnormal neuromuscular synapse "malformed or absent membrane to membrane contact of a motor axon and a muscle myofiber resulting in aberrant transmission of nerve impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159, J:47439]
Show

Allelic Composition: Gphntm1Jrs/Gphntm1Jrs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001400 hyperresponsive "increased reaction to touch" [J:39801]
Show

Allelic Composition: Ascl1tm1And/Ascl1tm1And
Genetic Background: involves: 129/Sv

 MP:0001436 abnormal suckling behavior "reduced ability or inability to exert suction by the mouth, or atypical suckling pattern" [J:16461]
Show

Allelic Composition: Ascl1tm1And/Ascl1tm1And
Genetic Background: involves: 129/Sv

 MP:0001504 abnormal posture "atypical position of the limbs or carriage of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:18984]
Show

Allelic Composition: Ascl1tm1And/Ascl1tm1And
Genetic Background: involves: 129/Sv

 MP:0001529 abnormal vocalization "an inability, decreased ability or altered ability to produce sound from the vocal organs; or a general increase or decrease in the production of vocal sound" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator, J:85479]
Show

Allelic Composition: Ascl1tm1And/Ascl1tm1And
Genetic Background: involves: 129/Sv

 MP:0001957 apnea "absence of breathing; sometimes episodic" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17384]
Show

Allelic Composition: Ascl1tm1And/Ascl1tm1And
Genetic Background: involves: 129/Sv

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fasltm1.1Cgm/Fasltm1.1Cgm
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6N

 MP:0002272 abnormal nervous system electrophysiology "anomaly in the function of the nervous system as it relates to electrical phenomena" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Gphntm1Jrs/Gphntm1Jrs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003651 abnormal axon outgrowth "defect/abnormality in the ability of an axon to extend from a neuron cell body" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator, J:96121]
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Allelic Composition: Gphntm1Jrs/Gphntm1Jrs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003734 abnormal inner plexiform layer morphology "malformation/anomalous structure of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Gphntm1Jrs/Gphntm1Jrs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0005192 increased motor neuron number "greater than the normal number of cells that innervate an effector (muscle or glandular) tissue" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gphntm1Jrs/Gphntm1Jrs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Ascl1tm1And/Ascl1tm1And
Genetic Background: involves: 129/Sv

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000047454 Gphn / Q8BUV3 / gephyrin / Q9NQX3*  / complex






 

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