Entry - *608941 - GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-3; GNG3 - OMIM

 
 
* 608941

GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-3; GNG3


HGNC Approved Gene Symbol: GNG3

Cytogenetic location: 11q12.3     Genomic coordinates (GRCh38): 11:62,706,446-62,709,201 (from NCBI)


TEXT

▼ Description

G proteins are heterotrimers of alpha, beta, and gamma subunits. Gamma subunits, such as GNG3, contribute to the specificity of the hundreds of receptor signaling pathways involving G proteins (Schwindinger et al., 2004).


▼ Cloning and Expression

Hurowitz et al. (2000) determined the complete coding sequence of the human GNG3 gene.

Using PCR, Schwindinger et al. (2004) found that mouse Gng3 was highly expressed in brain. Lower expression was detected in all other tissues tested except liver.


▼ Gene Structure

Hurowitz et al. (2000) determined that the coding region of the GNG3 gene contains 2 exons.

Schwindinger et al. (2004) reported that the mouse Gng3 gene contains 3 exons.


▼ Mapping

By radiation hybrid analysis, Hurowitz et al. (2000) mapped the GNG3 gene to chromosome 11p11. They mapped the mouse gene to chromosome 19.


▼ Animal Model

Schwindinger et al. (2004) generated mice lacking the Gng3 gene. Gng3 -/- mice displayed increased susceptibility to seizures, reduced body weight, and decreased adiposity compared with their wildtype littermates. The phenotypic changes were associated with significant reductions in Gnb2 (139390) and Gnai3 (139370) subunit levels in several brain regions.


▼ REFERENCES

  1. Hurowitz, E. H., Melnyk, J. M., Chen, Y.-J., Kouros-Mehr, H., Simon, M. I., Shizuya, H. Genomic characterization of the human heterotrimeric G protein alpha, beta, and gamma subunit genes. DNA Res. 7: 111-120, 2000. [PubMed: 10819326, related citations] [Full Text]

  2. Schwindinger, W. F., Giger, K. E., Betz, K. S., Stauffer, A. M., Sunderlin, E. M., Sim-Selley, L. J., Selley, D. E., Bronson, S. K., Robishaw, J. D. Mice with deficiency of G protein gamma-3 are lean and have seizures. Molec. Cell. Biol. 24: 7758-7768, 2004. [PubMed: 15314181, images, related citations] [Full Text]


Creation Date:
Patricia A. Hartz : 9/23/2004
Edit History:
mgross : 09/23/2004

* 608941

GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-3; GNG3


HGNC Approved Gene Symbol: GNG3

Cytogenetic location: 11q12.3     Genomic coordinates (GRCh38): 11:62,706,446-62,709,201 (from NCBI)


TEXT

Description

G proteins are heterotrimers of alpha, beta, and gamma subunits. Gamma subunits, such as GNG3, contribute to the specificity of the hundreds of receptor signaling pathways involving G proteins (Schwindinger et al., 2004).


Cloning and Expression

Hurowitz et al. (2000) determined the complete coding sequence of the human GNG3 gene.

Using PCR, Schwindinger et al. (2004) found that mouse Gng3 was highly expressed in brain. Lower expression was detected in all other tissues tested except liver.


Gene Structure

Hurowitz et al. (2000) determined that the coding region of the GNG3 gene contains 2 exons.

Schwindinger et al. (2004) reported that the mouse Gng3 gene contains 3 exons.


Mapping

By radiation hybrid analysis, Hurowitz et al. (2000) mapped the GNG3 gene to chromosome 11p11. They mapped the mouse gene to chromosome 19.


Animal Model

Schwindinger et al. (2004) generated mice lacking the Gng3 gene. Gng3 -/- mice displayed increased susceptibility to seizures, reduced body weight, and decreased adiposity compared with their wildtype littermates. The phenotypic changes were associated with significant reductions in Gnb2 (139390) and Gnai3 (139370) subunit levels in several brain regions.


REFERENCES

  1. Hurowitz, E. H., Melnyk, J. M., Chen, Y.-J., Kouros-Mehr, H., Simon, M. I., Shizuya, H. Genomic characterization of the human heterotrimeric G protein alpha, beta, and gamma subunit genes. DNA Res. 7: 111-120, 2000. [PubMed: 10819326] [Full Text: https://doi.org/10.1093/dnares/7.2.111]

  2. Schwindinger, W. F., Giger, K. E., Betz, K. S., Stauffer, A. M., Sunderlin, E. M., Sim-Selley, L. J., Selley, D. E., Bronson, S. K., Robishaw, J. D. Mice with deficiency of G protein gamma-3 are lean and have seizures. Molec. Cell. Biol. 24: 7758-7768, 2004. [PubMed: 15314181] [Full Text: https://doi.org/10.1128/MCB.24.17.7758-7768.2004]


Creation Date:
Patricia A. Hartz : 9/23/2004

Edit History:
mgross : 09/23/2004



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: May 23, 2024