ENSMUSG00000043448


Mus musculus

Features
Gene ID: ENSMUSG00000043448
  
Biological name :Gjc2
  
Synonyms : gap junction protein, gamma 2 / Gjc2 / Q8BQU6
  
Possible biological names infered from orthology : Q5T442
  
Species: Mus musculus
  
Chr. number: 11
Strand: -1
Band: B1.3
Gene start: 59175568
Gene end: 59183213
  
Corresponding Affymetrix probe sets: 10386352 (MoGene1.0st)   1435214_at (Mouse Genome 430 2.0 Array)   1450483_at (Mouse Genome 430 2.0 Array)   1455989_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000104418
Ensembl peptide - ENSMUSP00000104421
NCBI entrez gene - 118454     See in Manteia.
MGI - MGI:2153060
RefSeq - NM_080454
RefSeq - NM_175452
RefSeq Peptide - NP_536702
RefSeq Peptide - NP_780661
swissprot - Q8BQU6
Ensembl - ENSMUSG00000043448
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cx47.1ENSDARG00000073896Danio rerio
 GJC2ENSGALG00000005331Gallus gallus
 GJC2ENSG00000198835Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Gjc1 / P28229 / gap junction protein, gamma 1 / P36383*ENSMUSG0000003452044
Gja5 / Q01231 / gap junction protein, alpha 5 / P36382*ENSMUSG0000005712328
Gja3 / Q64448 / gap junction protein, alpha 3 / Q9Y6H8*ENSMUSG0000004858228
Gja8 / P28236 / gap junction protein, alpha 8 / P48165*ENSMUSG0000004990827
Gja4 / P28235 / gap junction protein, alpha 4 / P35212*ENSMUSG0000005023427
Gja1 / P23242 / gap junction protein, alpha 1 / P17302*ENSMUSG0000005095326
Gjd2 / O54851 / gap junction protein, delta 2 / Q9UKL4*ENSMUSG0000006861526
Gja10 / Q9WUS4 / gap junction protein, alpha 10 / Q969M2*ENSMUSG0000005105624
Gjd3 / Q91YD1 / gap junction protein, delta 3 / Q8N144*ENSMUSG0000004719722
Gja6 / Q6S5G4 / gap junction protein, alpha 6ENSMUSG0000005569121


Protein motifs (from Interpro)
Interpro ID Name
 IPR000500  Connexin
 IPR013092  Connexin, N-terminal
 IPR017990  Connexin, conserved site
 IPR019570  Gap junction protein, cysteine-rich domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001932 regulation of protein phosphorylation IEA
 biological_processGO:0007154 cell communication IEA
 biological_processGO:0007267 cell-cell signaling IDA
 biological_processGO:0007420 brain development IEA
 biological_processGO:0009636 response to toxic substance IDA
 biological_processGO:0010628 positive regulation of gene expression IEA
 biological_processGO:0010644 cell communication by electrical coupling ISO
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0070447 positive regulation of oligodendrocyte progenitor proliferation IEA
 biological_processGO:1904427 positive regulation of calcium ion transmembrane transport IEA
 biological_processGO:2000134 negative regulation of G1/S transition of mitotic cell cycle IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005921 gap junction IEA
 cellular_componentGO:0005922 connexin complex IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0033270 paranode region of axon IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0043204 perikaryon IEA
 cellular_componentGO:0043209 myelin sheath IDA
 cellular_componentGO:1990769 proximal neuron projection IEA
 molecular_functionGO:0005243 gap junction channel activity IDA
 molecular_functionGO:1903763 gap junction channel activity involved in cell communication by electrical coupling ISO


Pathways (from Reactome)
Pathway description
Gap junction assembly


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Atp1a2tm1Kwk/Atp1a2tm1Kwk
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Gjc2tm1Paul/Gjc2tm1Paul,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0000849 abnormal cerebellum morphology "any malformation or absence of the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement and learning of motor skills" [J:50311, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Atp1a2tm1Kwk/Atp1a2tm1Kwk
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Gjc2tm2.1Kwi/Gjc2tm2.1Kwi
Genetic Background: involves: C57BL/6 * SJL

Allelic Composition: Gjc2tm2.1Kwi/Gjc2+
Genetic Background: involves: C57BL/6 * SJL

 MP:0000876 Purkinje cell degeneration "a retrogressive impairment of function or destruction of the large neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex" [J:46854]
Show

Allelic Composition: Gjc2tm2.1Kwi/Gjc2tm2.1Kwi
Genetic Background: involves: C57BL/6 * SJL

 MP:0000920 abnormal myelination "atypical or altered myelination in axon sheaths" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Atp1a2tm1Kwk/Atp1a2tm1Kwk
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Gjc2tm1Paul/Gjc2tm1Paul,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Gjc2tm2.1Kwi/Gjc2tm2.1Kwi
Genetic Background: involves: C57BL/6 * SJL

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm2.1Kwi/Gjc2tm2.1Kwi
Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

 MP:0000921 demyelination "loss of the myelin sheath without loss of axons or fiber tracts" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Gjc2tm1Paul/Gjc2tm1Paul,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0000951 sporadic seizures "occasional seizures occuring at irregular intervals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Atp1a2tm1Kwk/Atp1a2tm1Kwk
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0000953 abnormal oligodendrocyte morphology "anomalous structure, number or composition of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0001333 absent optic nerve "absence of the second cranial nerve which is responsible for conveying visual information from the retina to the brain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gjc2tm1Paul/Gjc2tm1Paul,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
Show

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm2.1Kwi/Gjc2tm2.1Kwi
Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
Show

Allelic Composition: Gjc2tm2.1Kwi/Gjc2tm2.1Kwi
Genetic Background: involves: C57BL/6 * SJL

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Atp1a2tm1Kwk/Atp1a2tm1Kwk
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
Show

Allelic Composition: Atp1a2tm1Kwk/Atp1a2tm1Kwk
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0002064 seizures "sudden and often acute manifestation of epileptic attack, sometimes convulsive" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Atp1a2tm1Kwk/Atp1a2tm1Kwk
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0002066 abnormal motor capabilities/coordination/movement "altered ability to coordinate voluntary movement or repetitive, compulsive movements" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gjc2tm2.1Kwi/Gjc2+
Genetic Background: involves: C57BL/6 * SJL

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Atp1a2tm1Kwk/Atp1a2tm1Kwk
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Gjc2tm1Paul/Gjc2tm1Paul,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm2.1Kwi/Gjc2tm2.1Kwi
Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0002152 abnormal brain morphology "anomalous structure of or abnormal development of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, http://cancerweb.ncl.ac.uk]
Show

Allelic Composition: Atp1a2tm1Kwk/Atp1a2tm1Kwk
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Bcl10tm1Swm/Bcl10tm1Swm
Genetic Background: involves: 129P2/OlaHsd

 MP:0002229 CNS neurodegeneration "a retrogressive impairment of function or destruction of neural tissue" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Atp1a2tm1Kwk/Atp1a2tm1Kwk
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0002757 reduced vertical activity "lesser than average time spent jumping or rearing" [J:82829, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gjc2tm2.1Kwi/Gjc2+
Genetic Background: involves: C57BL/6 * SJL

 MP:0002804 abnormal motor learning "defects in the ability to repeat a motor task requiring well coordinated movements and balance; measures cerebellar dependent learning" [CFG:Center for Functional Genomics , Northwestern University]
Show

Allelic Composition: Gjc2tm2.1Kwi/Gjc2tm2.1Kwi
Genetic Background: involves: C57BL/6 * SJL

 MP:0002826 tonic seizures "increased number or decreased threshold for the induction of a seizure characterized by muscle rigidity" [hdene:Howard Dene , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Gjc2tm1Paul/Gjc2tm1Paul,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0003354 astrocytosis "a proliferation or spread of astrocytes in the area of a degenerative lesion or damaged tissue" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Atp1a2tm1Kwk/Atp1a2tm1Kwk
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Gjc2tm2.1Kwi/Gjc2tm2.1Kwi
Genetic Background: involves: C57BL/6 * SJL

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm2.1Kwi/Gjc2tm2.1Kwi
Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0005405 axon degeneration "retrogressive pathologic change in the single process of a nerve cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0006082 CNS inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the brain and/or spinal cord" [smb:Susan M Bello, Mouse Genome Informatics Curator, ncbi:NCBI request]
Show

Allelic Composition: Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0008026 abnormal brain white matter morphology "any structural anomaly of the regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Gjc2tm2.1Kwi/Gjc2tm2.1Kwi
Genetic Background: involves: C57BL/6 * SJL

Allelic Composition: Gjc2tm2.1Kwi/Gjc2+
Genetic Background: involves: C57BL/6 * SJL

 MP:0008917 abnormal oligodendrocyte physiology "any functional anomaly of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS" [MESH:A08.637.600]
Show

Allelic Composition: Atp1a2tm1Kwk/Atp1a2tm1Kwk
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Gjc2tm2.1Kwi/Gjc2tm2.1Kwi
Genetic Background: involves: C57BL/6 * SJL

Allelic Composition: Gjc2tm2.1Kwi/Gjc2+
Genetic Background: involves: C57BL/6 * SJL

 MP:0008918 microgliosis "a proliferation or spread of microglia in the area of a degenerative lesion or damaged tissue" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Atp1a2tm1Kwk/Atp1a2tm1Kwk
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Gjc2tm2.1Kwi/Gjc2tm2.1Kwi
Genetic Background: involves: C57BL/6 * SJL

Allelic Composition: Gjc2tm2.1Kwi/Gjc2+
Genetic Background: involves: C57BL/6 * SJL

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0009978 abnormal cerebellum white matter morphology 
Show

Allelic Composition: Atp1a2tm1Kwk/Atp1a2tm1Kwk
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Gjc2tm2.1Kwi/Gjc2tm2.1Kwi
Genetic Background: involves: C57BL/6 * SJL

 MP:0010160 increased oligodendrocyte number "greater number of cells of the central nervous system that form the insulating myelin sheath of axons in the CNS" [MESH:A08.637.600, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gjc2tm2.1Kwi/Gjc2tm2.1Kwi
Genetic Background: involves: C57BL/6 * SJL

Allelic Composition: Gjc2tm2.1Kwi/Gjc2+
Genetic Background: involves: C57BL/6 * SJL

 MP:0010205 abnormal oligodendrocyte apoptosis "change in the timing or the number of oligodendrocytes undergoing programmed cell death" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0013438 dysmyelination "reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin" [MGI:csmith]
Show

Allelic Composition: Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi,Gjb1tm1Kwi/Gjb1tm1Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Gjb1tm1Kwi/Y,Gjc2tm1(EGFP)Kwi/Gjc2tm1(EGFP)Kwi
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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