ENSMUSG00000049908


Mus musculus

Features
Gene ID: ENSMUSG00000049908
  
Biological name :Gja8
  
Synonyms : gap junction protein, alpha 8 / Gja8 / P28236
  
Possible biological names infered from orthology : P48165
  
Species: Mus musculus
  
Chr. number: 3
Strand: -1
Band: F2.1
Gene start: 96913566
Gene end: 96926020
  
Corresponding Affymetrix probe sets: 10500429 (MoGene1.0st)   1422274_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000049532
NCBI entrez gene - 14616     See in Manteia.
MGI - MGI:99953
RefSeq - NM_008123
RefSeq Peptide - NP_032149
swissprot - P28236
swissprot - Q548M7
Ensembl - ENSMUSG00000049908
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gja8aENSDARG00000069451Danio rerio
 gja8bENSDARG00000015076Danio rerio
 GJA8ENSGALG00000015488Gallus gallus
 GJA8ENSG00000121634Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Gja3 / Q64448 / gap junction protein, alpha 3 / Q9Y6H8*ENSMUSG0000004858243
Gja5 / Q01231 / gap junction protein, alpha 5 / P36382*ENSMUSG0000005712336
Gja1 / P23242 / gap junction protein, alpha 1 / P17302*ENSMUSG0000005095335
Gja10 / Q9WUS4 / gap junction protein, alpha 10 / Q969M2*ENSMUSG0000005105633
Gja4 / P28235 / gap junction protein, alpha 4 / P35212*ENSMUSG0000005023432
Gjc1 / P28229 / gap junction protein, gamma 1 / P36383*ENSMUSG0000003452030
Gjc2 / Q8BQU6 / gap junction protein, gamma 2 / Q5T442*ENSMUSG0000004344827
Gja6 / Q6S5G4 / gap junction protein, alpha 6ENSMUSG0000005569127
Gjd2 / O54851 / gap junction protein, delta 2 / Q9UKL4*ENSMUSG0000006861525
Gjd3 / Q91YD1 / gap junction protein, delta 3 / Q8N144*ENSMUSG0000004719722


Protein motifs (from Interpro)
Interpro ID Name
 IPR000500  Connexin
 IPR002266  Gap junction alpha-8 protein (Cx50)
 IPR013092  Connexin, N-terminal
 IPR017990  Connexin, conserved site
 IPR019570  Gap junction protein, cysteine-rich domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002088 lens development in camera-type eye IMP
 biological_processGO:0007154 cell communication IEA
 biological_processGO:0007267 cell-cell signaling IEA
 biological_processGO:0043010 camera-type eye development IMP
 biological_processGO:0051260 protein homooligomerization IEA
 biological_processGO:0055085 transmembrane transport IEA
 cellular_componentGO:0005886 plasma membrane IDA
 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:0005243 gap junction channel activity IEA


Pathways (from Reactome)
Pathway description
Gap junction assembly


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001286 abnormal eye development "malformation or arrest of differentiation of the visual organ" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:49840]
Show

Allelic Composition: Fgfr2tm3Dsn/Fgfr2tm3Dsn
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Gja8tm1(Gja3)Tww/Gja8tm1(Gja3)Tww
Genetic Background: involves: 129S/SvEv

 MP:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
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Allelic Composition: Fgfr2tm3Dsn/Fgfr2tm3Dsn
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Gja8tm1(Gja3)Tww/Gja8tm1(Gja3)Tww
Genetic Background: involves: 129S/SvEv

Allelic Composition: Gja8Lop10/Gja8Lop10
Genetic Background: C;AK-Gja8Lop10/J

Allelic Composition: Gja8L1/Gja8L1
Genetic Background: involves: C3H/HeJ * C57BL/6J

Allelic Composition: Gja8L1/Gja8+
Genetic Background: involves: C3H/HeJ * C57BL/6J

Allelic Composition: Gja8L1/Gja8tm1Scr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * C57BL/6J

Allelic Composition: Gja3tm1Scr/Gja3tm1Scr,Gja8L1/Gja8tm1Scr
Genetic Background: involves: 129 * C3H/HeJ * C57BL/6J

Allelic Composition: Gja3tm1Scr/Gja3tm1Scr,Gja8tm1Scr/Gja8tm1Scr
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

Allelic Composition: Gja8Lop10/Gja8tm1Scr
Genetic Background: involves: 129S4/SvJae * AKR/J * BALB/cJ * C57BL/6J

Allelic Composition: Gja8R205G/Gja8R205G
Genetic Background: B6.Cg-Gja8R205G

Allelic Composition: Gja8R205G/Gja8tm1Scr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CWD/LeAgl * SJL/J

Allelic Composition: Gja8R205G/?
Genetic Background: involves: CWD/LeAgl * SJL/J

Allelic Composition: Gja8R205G/Gja8R205G
Genetic Background: CWXS/Agl-Gja8R205G

 MP:0001303 abnormal lens morphology "malformed transparent structure of the eye responsible for focusing light rays" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:40203]
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Allelic Composition: Gja1M1Jrt/Gja1+
Genetic Background: involves: C3H/HeJ * C57BL/6J

Allelic Composition: Gja3tm1Scr/Gja3tm1Scr,Gja8L1/Gja8+
Genetic Background: involves: 129S4/SvJae * C3H/HeJ * C57BL/6J

Allelic Composition: CrygbS11R/CrygbS11R,Gja8tm1(Gja3)Tww/Gja8tm1(Gja3)Tww
Genetic Background: involves: A/J * C57BL/6J

 MP:0001304 cataracts "complete or partial opacity of the lens" [J:65031]
Show

Allelic Composition: Fgfr2tm3Dsn/Fgfr2tm3Dsn
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Gja8Lop10/Gja8Lop10
Genetic Background: C;AK-Gja8Lop10/J

Allelic Composition: Gja8tm1Rtm/Gja8tm1Rtm
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Gja8L1/Gja8L1
Genetic Background: involves: C3H/HeJ * C57BL/6J

Allelic Composition: Gja8L1/Gja8+
Genetic Background: involves: C3H/HeJ * C57BL/6J

Allelic Composition: Gja8Lop10/Gja8tm1Scr
Genetic Background: involves: 129S4/SvJae * AKR/J * BALB/cJ * C57BL/6J

Allelic Composition: Gja8Aey5/Gja8Aey5
Genetic Background: C3HeB/FeJ-Gja8Aey5

Allelic Composition: Gja8Aey5/Gja8+
Genetic Background: C3HeB/FeJ-Gja8Aey5

Allelic Composition: Gja8R205G/?
Genetic Background: involves: CWD/LeAgl * SJL/J

 MP:0001306 small lens "reduced size of the transparent structure of the eye responsible for focusing light rays" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Fgfr2tm3Dsn/Fgfr2tm3Dsn
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Gja8tm1(Gja3)Tww/Gja8tm1(Gja3)Tww
Genetic Background: involves: 129S/SvEv

Allelic Composition: Gja8Aey5/Gja8Aey5
Genetic Background: C3HeB/FeJ-Gja8Aey5

Allelic Composition: Gja8Aey5/Gja8+
Genetic Background: C3HeB/FeJ-Gja8Aey5

Allelic Composition: Gja8R205G/Gja8+
Genetic Background: B6.Cg-Gja8R205G

Allelic Composition: Gja8R205G/Gja8R205G
Genetic Background: B6.Cg-Gja8R205G

 MP:0001325 abnormal retina morphology "structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Gipc3tm1b(KOMP)Wtsi/Gipc3tm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Gipc3tm1b(KOMP)Wtsi/J

 MP:0002092 abnormal eye morphology "abnormal development of the eye tissues resulting in morphological abnormality or abnormal structure of the visual system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Fgfr2tm3Dsn/Fgfr2tm3Dsn
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002840 abnormal lens fibers morphology "structural anomaly of the elongated cells of the crystalline lens of the eye" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Fgfr2tm3Dsn/Fgfr2tm3Dsn
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Gja8Lop10/Gja8Lop10
Genetic Background: C;AK-Gja8Lop10/J

Allelic Composition: Gja8L1/Gja8L1
Genetic Background: involves: C3H/HeJ * C57BL/6J

Allelic Composition: Gja8L1/Gja8+
Genetic Background: involves: C3H/HeJ * C57BL/6J

Allelic Composition: Gja8Aey5/Gja8Aey5
Genetic Background: C3HeB/FeJ-Gja8Aey5

Allelic Composition: Gja8Aey5/Gja8+
Genetic Background: C3HeB/FeJ-Gja8Aey5

Allelic Composition: Gja8R205G/Gja8R205G
Genetic Background: involves: 129S4/SvJae * CWD/LeAgl * SJL/J

 MP:0003929 decreased heart rate variability "reduced variation of beat-to-beat intervals of the heart, usually indicitive of cardiac disease" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Gipc3tm1b(KOMP)Wtsi/Gipc3tm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Gipc3tm1b(KOMP)Wtsi/J

 MP:0005253 abnormal eye physiology "anomalous function and/or activity of the ocular system or any of its parts" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Gja8tm1Rtm/Gja8tm1Rtm
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0005385 cardiovascular system phenotype 
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Allelic Composition: Gipc3tm1b(KOMP)Wtsi/Gipc3tm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Gipc3tm1b(KOMP)Wtsi/J

 MP:0005545 abnormal lens development "aberrant formation of the transparent structure of the eye responsible for focusing light rays" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Fgfr2tm3Dsn/Fgfr2tm3Dsn
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Gja8tm1(Gja3)Tww/Gja8tm1(Gja3)Tww
Genetic Background: involves: 129S/SvEv

Allelic Composition: Gja8Lop10/Gja8Lop10
Genetic Background: C;AK-Gja8Lop10/J

 MP:0005551 abnormal eye electrophysiology "abnormal function of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram)" [NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
Show

Allelic Composition: Gja8tm1Rtm/Gja8tm1Rtm
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0008841 ruptured lens capsule "a break or tear in the elastic, clear, membrane-like structure, that is outer most layer of the lens" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gja8Lop10/Gja8Lop10
Genetic Background: C;AK-Gja8Lop10/J

Allelic Composition: Gja8L1/Gja8L1
Genetic Background: involves: C3H/HeJ * C57BL/6J

Allelic Composition: Gja8L1/Gja8+
Genetic Background: involves: C3H/HeJ * C57BL/6J

 MP:0010254 nuclear cataracts "a lens opacity located in the dense, central part of the lens" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", ISBN:978-0-8493-0864-2 "Smith R.S. et al (ed.) Systematic Evaluation of the Mouse Eye: Anatomy, Pathology, and Biomethods"]
Show

Allelic Composition: Foxn1tm1Tbo/Foxn1tm1Tbo
Genetic Background: involves: 129S1/Sv

Allelic Composition: Gja8No2/Gja8+
Genetic Background: involves: 101 * C3H

Allelic Composition: Gja8Lop10/Gja8+
Genetic Background: C;AK-Gja8Lop10/J

Allelic Composition: Gja3tm1Scr/Gja3tm1Scr,Gja8L1/Gja8+
Genetic Background: involves: 129S4/SvJae * C3H/HeJ * C57BL/6J

Allelic Composition: Gja3tm1Scr/Gja3tm1Scr,Gja8L1/Gja8tm1Scr
Genetic Background: involves: 129 * C3H/HeJ * C57BL/6J

Allelic Composition: Gja3tm1Scr/Gja3tm1Scr,Gja8tm1Scr/Gja8tm1Scr
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

Allelic Composition: Gja8R205G/Gja8+
Genetic Background: B6.Cg-Gja8R205G

Allelic Composition: Gja8R205G/Gja8R205G
Genetic Background: B6.Cg-Gja8R205G

Allelic Composition: Gja8R205G/Gja8tm1Scr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CWD/LeAgl * SJL/J

Allelic Composition: Gja3tm1Scr/Gja3tm1Scr,Gja8R205G/Gja8R205G
Genetic Background: involves: 129S4/SvJae * CWD/LeAgl * SJL/J

Allelic Composition: Gja8R205G/Gja8R205G
Genetic Background: involves: 129S4/SvJae * CWD/LeAgl * SJL/J

Allelic Composition: Gja8R205G/Gja8+
Genetic Background: CWXS/Agl-Gja8R205G

Allelic Composition: Gja8R205G/Gja8R205G
Genetic Background: CWXS/Agl-Gja8R205G

 MP:0010263 total cataracts "a lens opacity which involves both nuclear and cortical regions, including all fibers of a lens; usually congenital" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", ISBN:978-0-8493-0864-2 "Smith R.S. et al (ed.) Systematic Evaluation of the Mouse Eye: Anatomy, Pathology, and Biomethods"]
Show

Allelic Composition: Gja8L1/Gja8tm1Scr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * C57BL/6J

 MP:0011697 vacuolated lens "fluid filled cavities are present in the cytoplasm of the transparent structure of the eye responsible for focusing light" [MGI:llw2]
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Allelic Composition: Gja8L1/Gja8L1
Genetic Background: involves: C3H/HeJ * C57BL/6J

Allelic Composition: Gja8L1/Gja8+
Genetic Background: involves: C3H/HeJ * C57BL/6J

Allelic Composition: Gja8R205G/Gja8R205G
Genetic Background: B6.Cg-Gja8R205G

Allelic Composition: Gja8R205G/Gja8R205G
Genetic Background: involves: 129S4/SvJae * CWD/LeAgl * SJL/J

  


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






 

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