ENSMUSG00000068615


Mus musculus

Features
Gene ID: ENSMUSG00000068615
  
Biological name :Gjd2
  
Synonyms : gap junction protein, delta 2 / Gjd2 / O54851
  
Possible biological names infered from orthology : Q9UKL4
  
Species: Mus musculus
  
Chr. number: 2
Strand: -1
Band: E4
Gene start: 114009601
Gene end: 114013619
  
Corresponding Affymetrix probe sets: 10485979 (MoGene1.0st)   1423019_at (Mouse Genome 430 2.0 Array)   1435297_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000087742
NCBI entrez gene - 14617     See in Manteia.
MGI - MGI:1334209
RefSeq - NM_010290
RefSeq - XM_017315645
RefSeq Peptide - NP_034420
swissprot - O54851
Ensembl - ENSMUSG00000068615
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gjd2bENSDARG00000070781Danio rerio
 GJD2ENSGALG00000009845Gallus gallus
 GJD2ENSG00000159248Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Gjc2 / Q8BQU6 / gap junction protein, gamma 2 / Q5T442*ENSMUSG0000004344835
Gja5 / Q01231 / gap junction protein, alpha 5 / P36382*ENSMUSG0000005712335
Gja4 / P28235 / gap junction protein, alpha 4 / P35212*ENSMUSG0000005023435
Gja8 / P28236 / gap junction protein, alpha 8 / P48165*ENSMUSG0000004990835
Gja3 / Q64448 / gap junction protein, alpha 3 / Q9Y6H8*ENSMUSG0000004858234
Gjc1 / P28229 / gap junction protein, gamma 1 / P36383*ENSMUSG0000003452033
Gjd3 / Q91YD1 / gap junction protein, delta 3 / Q8N144*ENSMUSG0000004719732
Gja10 / Q9WUS4 / gap junction protein, alpha 10 / Q969M2*ENSMUSG0000005105632
Gja1 / P23242 / gap junction protein, alpha 1 / P17302*ENSMUSG0000005095330
Gja6 / Q6S5G4 / gap junction protein, alpha 6ENSMUSG0000005569127


Protein motifs (from Interpro)
Interpro ID Name
 IPR000500  Connexin
 IPR002260  Gap junction delta-2 protein (Cx36)
 IPR013092  Connexin, N-terminal
 IPR017990  Connexin, conserved site
 IPR019570  Gap junction protein, cysteine-rich domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001508 action potential IMP
 biological_processGO:0007154 cell communication IEA
 biological_processGO:0007267 cell-cell signaling IEA
 biological_processGO:0007268 chemical synaptic transmission IMP
 biological_processGO:0007601 visual perception IMP
 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
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Electric Transmission Across Gap Junctions
Gap junction assembly


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001454 abnormal cued conditioning behavior "defect in the ability of an animal to learn and remember an association between an an aversive experience (the unconditioned stimulus (US), ususally a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light)" [CFG:Center for Functional Genomics , Northwestern University]
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Allelic Composition: Spry2tm1Mrt/Spry2tm1Mrt
Genetic Background: involves: 129P2/OlaHsd

 MP:0002206 abnormal CNS synaptic transmission "defect in the communication from a neuron to a target across a synapse in the central nervous system" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Krt6a/Krt6btm1Cou/Krt6a/Krt6btm1Cou
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

Allelic Composition: Gjd2tm1Paul/Gjd2tm1Paul
Genetic Background: involves: 129S4/SvJae * C57BL/6

 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: Pafah1b1tm1Awb/Pafah1b1tm1Awb
Genetic Background: involves: 129S6/SvEvTac * NIH Black Swiss

 MP:0002911 abnormal inhibitory postsynaptic potential "defect in the membrane potential detected in postsynaptic cells when an inhibitory impulse arrives at the synapse causing hyperpolarization" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Krt6a/Krt6btm1Cou/Krt6a/Krt6btm1Cou
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

 MP:0002912 abnormal excitatory postsynaptic potential "defect in the potential detected in postsynaptic cells when an excitatory impulse arrives at the synapse causing depolarization" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Krt6a/Krt6btm1Cou/Krt6a/Krt6btm1Cou
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

 MP:0003058 increased insulin secretion "greater than normal release of this hormone secreted by beta cells of the pancreas, that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids " [MeSH:National Library of Medicine - Medical Subject Headings, 2003, RGD:Rat Genome Database submission]
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Allelic Composition: Cdk6tm2.1Phin/Cdk6tm2.1Phin,Il2ratm1Dw/Il2ratm1Dw
Genetic Background: involves: 129S4/SvJae * C57BL/6 * FVB/N

 MP:0003059 decreased insulin secretion "less than normal release of this hormone secreted by beta cells of the pancreas, that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids " [MeSH:National Library of Medicine - Medical Subject Headings, 2003, RGD:Rat Genome Database submission]
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Allelic Composition: Pafah1b1tm1Awb/Pafah1b1tm1Awb
Genetic Background: involves: 129S6/SvEvTac * NIH Black Swiss

 MP:0003463 abnormal single cell response "altered values from controls obtained upon extra- or intracellular recordings from single cells" [Nmice:Neuromice Consortium Submission]
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Allelic Composition: Spry2tm1Mrt/Spry2tm1Mrt
Genetic Background: involves: 129P2/OlaHsd

 MP:0003477 abnormal nerve fiber response "anomaly in the electrophysiological recordings from a single or several nerve fiber(s)" [Nmice:Neuromice Consortium Submission]
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Allelic Composition: Spry2tm1Mrt/Spry2tm1Mrt
Genetic Background: involves: 129P2/OlaHsd

 MP:0003562 abnormal beta cell physiology "anomaly in the function of the insulin-producing cells of the islets of Langerhans in the pancreas" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Spry2tm1Mrt/Spry2tm1Mrt
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Gjd2tm4Kwi/Gjd2tm4Kwi,Tg(Ins2-cre)23Herr/?
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 MP:0003564 abnormal insulin secretion "aberrant release of this hormone secreted by beta cells of the pancreas, that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Spry2tm1Mrt/Spry2tm1Mrt
Genetic Background: involves: 129P2/OlaHsd

 MP:0004994 abnormal brain wave pattern "any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential between parts of the brain, often visualized on an electroencephalogram (EEG); the pattern is often measured to diagnose neurological conditions such as seizure disorders (epilepsy)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Krt6a/Krt6btm1Cou/Krt6a/Krt6btm1Cou
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

 MP:0005241 abnormal retinal ganglion layer morphology "anomalous structure of the innermost nuclear layer of the retina, which projects axons through the optic nerve to the brain " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Pafah1b1tm1Awb/Pafah1b1tm1Awb
Genetic Background: involves: 129S6/SvEvTac * NIH Black Swiss

 MP:0005291 abnormal glucose tolerance "deviation from the normal response to oral consumption or intravenous injection of specified amounts of glucose; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Cdk6tm2.1Phin/Cdk6tm2.1Phin,Il2ratm1Dw/Il2ratm1Dw
Genetic Background: involves: 129S4/SvJae * C57BL/6 * FVB/N

 MP:0005402 abnormal action potential "change in the electric response of a nerve or other excitable tissue to its stimulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Krt6a/Krt6btm1Cou/Krt6a/Krt6btm1Cou
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000034520 Gjc1 / P28229 / gap junction protein, gamma 1 / P36383*  / complex
 ENSMUSG00000068615 Gjd2 / O54851 / gap junction protein, delta 2 / Q9UKL4*  / complex






 

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