Gja3

Summary

Gene Symbol: Gja3
Description: gap junction protein, alpha 3
Alias: Cnx46, Cx43, Cx46, Gja-3, alpha 3 connexin, connexin-46, gap junction alpha-3 protein, gap junction membrane channel protein alpha 3
Species: mouse

Top Publications

  1. ncbi Absence of alpha3 (Cx46) and alpha8 (Cx50) connexins leads to cataracts by affecting lens inner fiber cells
    Chun hong Xia
    School of Optometry and Vision Science Program, University of California at Berkeley, 693 Minor Hall, Berkeley, CA 94720 2020, USA
    Exp Eye Res 83:688-96. 2006
  2. pmc Age-related cataracts in alpha3Cx46-knockout mice are dependent on a calpain 3 isoform
    Yajun Tang
    Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois 60612, USA
    Invest Ophthalmol Vis Sci 48:2685-94. 2007
  3. ncbi Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesis
    Chun hong Xia
    School of Optometry and Vision Science Program, University of California at Berkeley, Berkeley, CA 94720, USA
    Development 133:2033-40. 2006
  4. ncbi A Gja8 (Cx50) point mutation causes an alteration of alpha 3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice
    Bo Chang
    The Jackson Laboratory, Bar Harbor, ME, USA
    Hum Mol Genet 11:507-13. 2002
  5. ncbi Genetic factors influence cataract formation in alpha 3 connexin knockout mice
    X Gong
    Department of Cell Biology, Scripps Research Institute, La Jolla, California 92037, USA
    Dev Genet 24:27-32. 1999
  6. ncbi Diverse functions of vertebrate gap junctions
    A M Simon
    Dept of Neurobiology, Harvard Medical School, Boston, MA 02115, USA
    Trends Cell Biol 8:477-83. 1998
  7. pmc Gap junction communication influences intercellular protein distribution in the lens
    Catherine Cheng
    UC Berkeley UCSF Joint Graduate Program in Bioengineering, University of California, Berkeley, Berkeley, CA, USA
    Exp Eye Res 86:966-74. 2008
  8. ncbi Unique and redundant connexin contributions to lens development
    Thomas W White
    Department of Physiology and Biophysics, State University of New York at Stony Brook, Stony Brook, NY 11794, USA
    Science 295:319-20. 2002
  9. ncbi Defining a link between gap junction communication, proteolysis, and cataract formation
    A Baruch
    Department of Biochemistry and Biophysics, University of California, San Francisco, California 94143, USA
    J Biol Chem 276:28999-9006. 2001
  10. pmc Dominant cataracts result from incongruous mixing of wild-type lens connexins
    Francisco J Martinez-Wittinghan
    Department of Physiology and Biophysics, State University of New York, Stony Brook 11794, USA
    J Cell Biol 161:969-78. 2003

Research Grants

  1. INTERCELLULAR COMMUNICATION IN THE LENS
    Lisa Ebihara; Fiscal Year: 2010
  2. INTERCELLULAR COMMUNICATION IN THE LENS
    Lisa Ebihara; Fiscal Year: 2009
  3. INTERCELLULAR COMMUNICATION IN THE LENS
    Lisa Ebihara; Fiscal Year: 2006
  4. INTERCELLULAR COMMUNICATION IN THE LENS
    Lisa Ebihara; Fiscal Year: 2001
  5. INTERCELLULAR COMMUNICATION IN THE LENS
    Lisa Ebihara; Fiscal Year: 2011

Scientific Experts

  • Neil C Chi
  • Lisa Ebihara
  • H Yamasaki
  • T W White
  • Subhash C Juneja
  • Lucas Martins Chaible
  • A Forge
  • Irene Dunia
  • C W Lo
  • Chun hong Xia
  • Xiaohua Gong
  • Catherine Cheng
  • Yajun Tang
  • Bo Chang
  • Nalin M Kumar
  • X Gong
  • Debra Cheung
  • Woo kuen Lo
  • Goran Sohl
  • Francisco J Martinez-Wittinghan
  • Quan V Hoang
  • Adam M DeRosa
  • N M Kumar
  • N B Gilula
  • Lin Li
  • Curtis L Anderson
  • Junyuan Gao
  • Julia von Maltzahn
  • Annalisa Buniello
  • Klaus Willecke
  • Richard T Mathias
  • Peter A Nielsen
  • F D Houghton
  • Shengwen Li
  • A Baruch
  • Harris Ripps
  • Haohua Qian
  • Thomas E Crowley
  • Joycelyn Niimi
  • G M Kidder
  • K J Barr
  • Layne A Novak
  • Jer R Kuszak
  • Rebecca K Zoltoski
  • Isabelle Richard
  • R Antonio Herrera
  • Xiangyang Liu
  • Lucio E Benedetti
  • Bruce Beutler
  • Eddie Wang
  • Y Gao
  • Qingling Huang
  • A M Simon
  • Xin Du
  • Joseph Horwitz
  • Haiquan Liu
  • Rudolf Werner
  • Michael A Zundel
  • Xiurong Sun
  • Carsten Euwens
  • Valeria Marigo
  • Donatella Montanaro
  • Paolo Gasparini
  • Stefano Volinia
  • Valery I Shestopalov
  • Amos Baruch
  • Leping Li
  • Caterina Sellitto
  • E Lucio Benedetti
  • Ben N G Giepmans
  • Peter R Brink
  • Hiroshi Kanetake
  • Shigeru Kanda
  • Tomayoshi Hayashi
  • H J Leese
  • Koichiro Nomata
  • H D Gabriel
  • G Walter
  • Mitsuru Noguchi
  • Norman L Hawes
  • C Mignon
  • T C Davies
  • Xin Wang
  • Ryan Ojakian
  • L Gibson
  • T E Broad
  • Muriel T Davisson
  • E Winterhager
  • O Traub
  • R Grummer

Detail Information

Publications41

  1. ncbi Absence of alpha3 (Cx46) and alpha8 (Cx50) connexins leads to cataracts by affecting lens inner fiber cells
    Chun hong Xia
    School of Optometry and Vision Science Program, University of California at Berkeley, 693 Minor Hall, Berkeley, CA 94720 2020, USA
    Exp Eye Res 83:688-96. 2006
    ..and transparency have been hypothesized to depend on intercellular gap junction channels, consisting of alpha3 (Cx46) and alpha8 (Cx50) connexin subunits, to transport metabolites, secondary messages and ions between lens cells...
  2. pmc Age-related cataracts in alpha3Cx46-knockout mice are dependent on a calpain 3 isoform
    Yajun Tang
    Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois 60612, USA
    Invest Ophthalmol Vis Sci 48:2685-94. 2007
    ..In the present study, a more in vivo-relevant model was generated to test the hypothesis that the calpain 3 gene is involved in age-related nuclear cataractogenesis in alpha3Cx46 knockout mice...
  3. ncbi Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesis
    Chun hong Xia
    School of Optometry and Vision Science Program, University of California at Berkeley, Berkeley, CA 94720, USA
    Development 133:2033-40. 2006
    Different mutations of alpha3 connexin (Cx46 or Gja8) and alpha8 connexin (Cx50 or Gja8), subunits of lens gap junction channels, cause a variety of cataracts via unknown mechanisms...
  4. ncbi A Gja8 (Cx50) point mutation causes an alteration of alpha 3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice
    Bo Chang
    The Jackson Laboratory, Bar Harbor, ME, USA
    Hum Mol Genet 11:507-13. 2002
    ..loss-of-function mutant for alpha 8, as well as a dominant mutation for reducing the phosphorylated forms of alpha 3 connexin in vivo...
  5. ncbi Genetic factors influence cataract formation in alpha 3 connexin knockout mice
    X Gong
    Department of Cell Biology, Scripps Research Institute, La Jolla, California 92037, USA
    Dev Genet 24:27-32. 1999
    Connexin alpha 3 (Cx46 or Gja3) gene targeted null mice developed lens nuclear cataracts shortly after birth. A large variance in the cataracts was observed in alpha 3 null sibs on a mixed 129SvJae X C57BL/6J F3 background...
  6. ncbi Diverse functions of vertebrate gap junctions
    A M Simon
    Dept of Neurobiology, Harvard Medical School, Boston, MA 02115, USA
    Trends Cell Biol 8:477-83. 1998
    ....
  7. pmc Gap junction communication influences intercellular protein distribution in the lens
    Catherine Cheng
    UC Berkeley UCSF Joint Graduate Program in Bioengineering, University of California, Berkeley, Berkeley, CA, USA
    Exp Eye Res 86:966-74. 2008
    ..Although the mechanism that drives GFP transport between fiber cells remains unknown, this work reveals that gap junction communication plays a novel role in the regulation of intercellular protein distribution in the lens...
  8. ncbi Unique and redundant connexin contributions to lens development
    Thomas W White
    Department of Physiology and Biophysics, State University of New York at Stony Brook, Stony Brook, NY 11794, USA
    Science 295:319-20. 2002
    ..Knockout of Cx46 causes a loss of homeostasis and cataracts. Deletion of Cx50 results in reduced ocular growth and cataracts...
  9. ncbi Defining a link between gap junction communication, proteolysis, and cataract formation
    A Baruch
    Department of Biochemistry and Biophysics, University of California, San Francisco, California 94143, USA
    J Biol Chem 276:28999-9006. 2001
    Disruption of the connexin alpha 3 (Cx46) gene (alpha 3 (-/-)) in mice results in severe cataracts within the nuclear portion of the lens...
  10. pmc Dominant cataracts result from incongruous mixing of wild-type lens connexins
    Francisco J Martinez-Wittinghan
    Department of Physiology and Biophysics, State University of New York, Stony Brook 11794, USA
    J Cell Biol 161:969-78. 2003
    ..In the lens, Cx46 and Cx50 provide the gap junctional coupling needed for homeostasis and growth...
  11. ncbi Genetic diseases and gene knockouts reveal diverse connexin functions
    T W White
    Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA
    Annu Rev Physiol 61:283-310. 1999
    ..In addition, gene targeting of connexins in mice has provided new insights into connexin function and the significance of connexin diversity...
  12. ncbi Knock-in of alpha3 connexin prevents severe cataracts caused by an alpha8 point mutation
    Chun hong Xia
    School of Optometry and Vision Science Program, University of California at Berkeley, Berkeley, CA, USA
    J Cell Sci 119:2138-44. 2006
    ..has been previously shown to cause a severe cataract by interacting with endogenous wild-type alpha3 connexin (Cx46) in mouse lenses...
  13. pmc Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1)
    Peter A Nielsen
    Department of Cell Biology, The Scripps Research Institute, La Jolla, California 92037, USA
    Mol Biol Cell 14:2470-81. 2003
    ..The spatial variation in the interaction of ZO-1 with lens gap junctions is intriguing and is suggestive of multiple dynamic roles for this association...
  14. pmc Gap junctional coupling in lenses lacking alpha3 connexin
    X Gong
    Department of Cell Biology, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Proc Natl Acad Sci U S A 95:15303-8. 1998
    Fiber cells of the lens are interconnected by an extensive network of gap junctions containing alpha3 (Cx46) and alpha8 (Cx50) connexins. A specific role for these connexins in lens homeostasis is not known...
  15. ncbi Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice
    X Gong
    Department of Cell Biology, The Scripps Research Institute, La Jolla, California 92037, USA
    Cell 91:833-43. 1997
    Gap junction channels formed by alpha3 (Cx46) and alpha8 (Cx50) connexin provide pathways for communication between the fiber cells in the normal transparent lens...
  16. doi Delayed osteoblastic differentiation and bone development in Cx43 knockout mice
    Lucas Martins Chaible
    Department of Pathology, School of Veterinary Medicine and Animal Science, University of Sao Paulo, Sao Paulo, Brazil
    Toxicol Pathol 39:1046-55. 2011
    GJA1 gene (Connexin43, also known as Cx43) is the most abundant gap junction protein isoform in animal cells and is associated with bone development in embryos...
  17. pmc Cataracts and microphthalmia caused by a Gja8 mutation in extracellular loop 2
    Chun hong Xia
    School of Optometry and Vision Science Program, University of California, Berkeley, California, United States of America
    PLoS ONE 7:e52894. 2012
    ..Immunohistological data reveal that Cx50-R205G mutant proteins and endogenous wild-type Cx46 (or α3 connexin) proteins form diffuse tiny spots rather than typical punctate signals of normal gap junctions in ..
  18. ncbi Structural changes in lenses of mice lacking the gap junction protein connexin43
    Y Gao
    Department of Neuroscience, Rose F Kennedy Center, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Invest Ophthalmol Vis Sci 39:1198-209. 1998
    To investigate the role of the gap junction protein connexin43 (Cx43), which is predominantly expressed in lens epithelial cells in the control of lens development and organization.
  19. ncbi Assignment of connexin 26 (GJB2) and 46 (GJA3) genes to human chromosome 13q11-->q12 and mouse chromosome 14D1-E1 by in situ hybridization
    C Mignon
    INSERM U 406, Faculté de la Timone, Marseille
    Cytogenet Cell Genet 72:185-6. 1996
  20. ncbi bcl-w, a novel member of the bcl-2 family, promotes cell survival
    L Gibson
    Walter and Eliza Hall Institute of Medical Research, PO Royal Melbourne Hospital, Victoria, Australia
    Oncogene 13:665-75. 1996
    ..These findings suggest that bcl-w participates in the control of apoptosis in multiple cell types. Its functional similarity to bcl-2 also makes it an attractive candidate proto-oncogene...
  21. ncbi Structural and immunocytochemical alterations in eye lens fiber cells from Cx46 and Cx50 knockout mice
    Irene Dunia
    Biologie Cellulaire, Institut Jacques Monod, CNRS, Universités Paris 6 Paris 7, 2, place Jussieu, F 75251 Paris Cedex 5, France
    Eur J Cell Biol 85:729-52. 2006
    In the current study we describe the changes of overall organization of lens fiber cells in connexin 46 (Cx46) and connexin 50 (Cx50) knockout mice...
  22. ncbi Multiple members of the connexin gene family participate in preimplantation development of the mouse
    T C Davies
    Department of Zoology, University of Western Ontario, London, Canada
    Dev Genet 18:234-43. 1996
    ..They can be divided into two groups with respect to the timing of mRNA accumulation: Cx31, Cx43, and Cx45 mRNAs accumulate continuously from the two- or four-cell stage, whereas Cx30.3, Cx31...
  23. ncbi Distribution of genes for gap junction membrane channel proteins on human and mouse chromosomes
    C L Hsieh
    Howard Hughes Medical Institute, Stanford, California
    Somat Cell Mol Genet 17:191-200. 1991
    ..1-q24.1; GJB1 (connexin32) to Xcen-q22; GJB2 (connexin26) to 13; and GJA3 (connexin46) also to 13, probably near GJB2...
  24. ncbi Physical mapping confirms that sheep chromosome 10 has extensive conserved synteny with cattle chromosome 12 and human chromosome 13
    T E Broad
    Department of Biochemistry, University of Otago, Dunedin, New Zealand
    Anim Genet 27:249-53. 1996
    ..cell hybrids: gap junction protein, beta 2, 26 kDa (connexin 26) (GJB2); gap junction protein, alpha 3, 46 kDa (connexin 46) (GJA3), and esterase D/formylglutathione hydrolase (ESD)...
  25. pmc Functional analysis of hemichannels and gap-junctional channels formed by connexins 43 and 46
    Quan V Hoang
    Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, IL 60612, USA
    Mol Vis 16:1343-52. 2010
    ..Retinal pigment epithelium (RPE) cells express Cx43 and Cx46...
  26. pmc Cardiac conduction is required to preserve cardiac chamber morphology
    Neil C Chi
    Departments of Biochemistry and Biophysics, Cardiovascular Research Institute, University of California, San Francisco, CA 94158, USA
    Proc Natl Acad Sci U S A 107:14662-7. 2010
    ..By positional cloning, we found that dco encodes Gja3/Cx46, a gap junction protein not previously implicated in heart formation or function...
  27. pmc Properties of connexin 46 hemichannels in dissociated lens fiber cells
    Lisa Ebihara
    Departments of Physiology and Biophysics, Rosalind Franklin School of Medicine and Science, North Chicago, Illinois 60064, USA
    Invest Ophthalmol Vis Sci 52:882-9. 2011
    To characterize the properties of connexin 46 hemichannels in differentiating fiber cells isolated from mouse lenses.
  28. ncbi Role of connexin (gap junction) genes in cell growth control and carcinogenesis
    H Yamasaki
    Unit of Multistage Carcinogenesis, International Agency for Research on Cancer, Lyon, France
    C R Acad Sci III 322:151-9. 1999
    ..We have produced various dominant-negative mutants of Cx26, Cx32 and Cx43 and showed that some of them prevent the growth control exerted by the corresponding wild-type genes...
  29. ncbi Variable promoter usage and alternative splicing in five mouse connexin genes
    Curtis L Anderson
    Department of Biochemistry and Molecular Biology, University of Miami School of Medicine, P O Box 016129, Miami, FL 33136, USA
    Genomics 85:238-44. 2005
    ..cDNA targeting five candidate genes, Cx31, Cx40, Cx45, Cx46, and Cx47 (approved gene symbols Gjb3, Gja5, Gja7, Gja3, and Gja12, respectively), revealed the existence of multiple previously unknown exons upstream of the coding ..
  30. ncbi The novel mouse connexin39 gene is expressed in developing striated muscle fibers
    Julia von Maltzahn
    Institut fur Genetik, Abteilung Molekulargenetik, Universitat Bonn, Römerstr 164, 53117 Bonn, Germany
    J Cell Sci 117:5381-92. 2004
    ..As expression of no other known connexin could be verified in these cells, intercellular dye transfer might result from functional expression of Cx39 in developing striated muscle fibers...
  31. ncbi Functional significance of gap junctional coupling in preimplantation development
    F D Houghton
    Department of Physiology, Dental Sciences Building, The University of Western Ontario, London, Ontario, Canada N6A 5C1
    Biol Reprod 66:1403-12. 2002
    ..New evidence of this diversification is presented using rat blastocyst outgrowths...
  32. ncbi Transient decrease in gap junction expression during compensatory renal growth in mice
    Shengwen Li
    Department of Urology, Nagasaki University School of Medicine, Nagasaki, Japan
    Urology 60:726-30. 2002
    ..Gap junctional intercellular communication plays important roles in homeostatic regulation, differentiation, and synchronization of cellular electronic and metabolic functions...
  33. ncbi Genes, gene knockouts, and mutations in the analysis of gap junctions
    C W Lo
    Department of Biology, University of Pennsylvania, Philadelphia 19104 6017, USA
    Dev Genet 24:1-4. 1999
    ..It may be timely to form a Nomenclature Committee to establish a uniform classification scheme for naming gap junction proteins...
  34. ncbi Chromosomal assignments of mouse connexin genes, coding for gap junctional proteins, by somatic cell hybridization
    H J Schwarz
    Institut fur Genetik, Abt Molekulargenetik, Universitat Bonn, Germany
    Somat Cell Mol Genet 18:351-9. 1992
    ..In addition, our results confirm the recent assignment of mouse connexin genes Cx26, Cx32, Cx37, Cx40, Cx43, and Cx46 to mouse chromosomes 14, X, 4, 3, 10, and 14, respectively, by analysis of interspecific backcrosses and ..
  35. ncbi Gap junctions in the inner ear: comparison of distribution patterns in different vertebrates and assessement of connexin composition in mammals
    Andrew Forge
    UCL Centre for Auditory Research and Institute of Laryngology and Otology, University College London, London WC1X 8EE, United Kingdom
    J Comp Neurol 467:207-31. 2003
    ..ear by RT-PCR, Western blotting, and immunohistochemistry revealed four connexin isotypes, cx26, cx30, cx31, and cx43, in the cochlea and three, cx26, cx30, and cx43, in the vestibular organs...
  36. ncbi An update on connexin genes and their nomenclature in mouse and man
    Goran Sohl
    Institut fur Genetik, Universitat Bonn, Germany
    Cell Commun Adhes 10:173-80. 2003
    ..Furthermore, this short review contains an update on phenotypic correlations between connexin deficient mice and patients bearing mutations in their orthologous connexin genes...
  37. ncbi An expression atlas of connexin genes in the mouse
    Annalisa Buniello
    Telethon Institute of Genetics and Medicine, Via P Castellino 111, 80131 Naples, Italy
    Genomics 83:812-20. 2004
    ....
  38. ncbi mRNA expression pattern of multiple members of connexin gene family in normal and abnormal fetal gonads in mouse
    Subhash C Juneja
    Department of Zoology, The University of Western Ontario, London, Canada
    Indian J Physiol Pharmacol 47:147-56. 2003
    ..Gap junctions play important roles in ovarian and testicular function. Connexin 43 (Cx43) knockout mouse is a model for developmentally impaired fetal gonads...
  39. pmc Connections between connexins, calcium, and cataracts in the lens
    Junyuan Gao
    Department of Physiology and Biophysics, State University of New York at Stony Brook, NY 11794, USA
    J Gen Physiol 124:289-300. 2004
    ..of the present study was to test this calcium circulation hypothesis by studying calcium homeostasis in connexin (Cx46) knockout and (Cx46 for Cx50) knockin mouse lenses, which have different degrees of gap junction coupling...
  40. pmc Global gene expression analysis of lenses from different mouse strains and in the alpha3Cx46 knockout mouse
    Yajun Tang
    Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, IL 60612, USA
    Mol Vis 16:113-21. 2010
    Disruption of the mouse gene encoding the gap junction subunit alpha3 connexin 46 (alpha3Cx46) results in the formation of lens cataracts that have a severity affected by the genetic background of the mouse strain...
  41. ncbi Four novel members of the connexin family of gap junction proteins. Molecular cloning, expression, and chromosome mapping
    J A Haefliger
    Department of Anatomy and Cellular Biology, Harvard Medical School, Boston, Massachusetts 02115
    J Biol Chem 267:2057-64. 1992
    ..Cx40, Cx37, and Cx33 are similar to the previously characterized Cx43 and Cx46. Cx31.1 is similar to Cx26, Cx31, and Cx32...

Research Grants15

  1. INTERCELLULAR COMMUNICATION IN THE LENS
    Lisa Ebihara; Fiscal Year: 2010
    ..Three different connexin proteins (Connexin 43 (Cx43), Connexin 46 (Cx46), Connexin 50 (Cx50)) have been identified in lens fibers...
  2. INTERCELLULAR COMMUNICATION IN THE LENS
    Lisa Ebihara; Fiscal Year: 2009
    ..Three different connexin proteins (Connexin 43 (Cx43), Connexin 46 (Cx46), Connexin 50 (Cx50)) have been identified in lens fibers...
  3. INTERCELLULAR COMMUNICATION IN THE LENS
    Lisa Ebihara; Fiscal Year: 2006
    ..Two different gap junctional proteins, Connexin 46 (Cx48) and Connexin 50 (Cx50), have been identified in lens fiber cells...
  4. INTERCELLULAR COMMUNICATION IN THE LENS
    Lisa Ebihara; Fiscal Year: 2001
    DESCRIPTION: Specific Aim #1: The PI will compare single channel properties of Cx46 and Cx56 hemichannels and their regulation by Ca++, protons and phosphorylation. Goals will be to see if Cx46 and Cx50 (or Cx56 and Cx45...
  5. INTERCELLULAR COMMUNICATION IN THE LENS
    Lisa Ebihara; Fiscal Year: 2011
    ..Three different connexin proteins (Connexin 43 (Cx43), Connexin 46 (Cx46), Connexin 50 (Cx50)) have been identified in lens fibers...