Entry - *607164 - LADYBIRD HOMEOBOX 2; LBX2 - OMIM

 
 
* 607164

LADYBIRD HOMEOBOX 2; LBX2


Alternative titles; symbols

LADYBIRD-LIKE HOMEOBOX 2
LADYBIRD LATE, DROSOPHILA, HOMOLOG OF, 2


HGNC Approved Gene Symbol: LBX2

Cytogenetic location: 2p13.1   Genomic coordinates (GRCh38) : 2:74,497,517-74,503,316 (from NCBI)


TEXT

▼ Cloning and Expression

By EST database searching for sequences homologous to mouse Lbx2, Chen et al. (2001) identified the human homolog, which encodes a deduced 198-amino acid protein that shares 64% sequence identity with the mouse protein. Like mouse Lbx2, the human protein contains a conserved homeodomain in exon 2 and a conserved 6-amino acid ladybird sequence in exon 1.


▼ Gene Function

Lady bird genes in Drosophila play important roles in neurogenesis, in myogenesis, and in specifying cardioblasts (Jagla et al., 1998). In the mouse, Lbx2 is expressed in the developing urogenital system, the eye, and the central nervous system (Chen et al., 1999). Chen et al. (2001) demonstrated in transgenic mice that 9 kb of the 5-prime genomic flanking region contains the Lbx2 promoter and regulatory regions that are sufficient to recapitulate endogenous Lbx2 expression. In mouse embryos at 11.5 days of gestation, this promoter exhibited tissue specificity for the urogenital ridge, the trigeminal ganglion, and nodose ganglion.


▼ Gene Structure

Chen et al. (2001) determined that both the mouse and human LBX2 genes contain 2 exons.


▼ Mapping

By radiation hybrid analysis, Chen et al. (2001) mapped the mouse Lbx2 gene to chromosome 6 in a region of conserved synteny with human 2p13-p12. Using electronic PCR, they mapped the human contig containing the LBX2 gene to chromosome 2p13.


▼ REFERENCES

  1. Chen, F., Collin, G. B., Liu, K. C., Beier, D. R., Eccles, M., Nishina, P. M., Moshang, T., Epstein, J. A. Characterization of the murine Lbx2 promoter, identification of the human homologue, and evaluation as a candidate for Alstrom syndrome. Genomics 74: 219-217, 2001. [PubMed: 11386758, related citations] [Full Text]

  2. Chen, F., Liu, K. C., Epstein, J. A. Lbx2, a novel murine homeobox gene related to the Drosophila ladybird genes is expressed in the developing urogenital system, eye and brain. Mech. Dev. 84: 181-184, 1999. [PubMed: 10473138, related citations] [Full Text]

  3. Jagla, T., Bellard, F., Lutz, Y., Dretzen, G., Bellard, M., Jagla, K. Ladybird determines cell fate decisions during diversification of Drosophila somatic muscles. Development 125: 3699-3708, 1998. [PubMed: 9716535, related citations] [Full Text]


Creation Date:
Carol A. Bocchini : 8/23/2002
Edit History:
carol : 09/21/2021
carol : 10/19/2016
terry : 03/18/2004
mgross : 8/26/2002
mgross : 8/26/2002
carol : 8/26/2002

* 607164

LADYBIRD HOMEOBOX 2; LBX2


Alternative titles; symbols

LADYBIRD-LIKE HOMEOBOX 2
LADYBIRD LATE, DROSOPHILA, HOMOLOG OF, 2


HGNC Approved Gene Symbol: LBX2

Cytogenetic location: 2p13.1   Genomic coordinates (GRCh38) : 2:74,497,517-74,503,316 (from NCBI)


TEXT

Cloning and Expression

By EST database searching for sequences homologous to mouse Lbx2, Chen et al. (2001) identified the human homolog, which encodes a deduced 198-amino acid protein that shares 64% sequence identity with the mouse protein. Like mouse Lbx2, the human protein contains a conserved homeodomain in exon 2 and a conserved 6-amino acid ladybird sequence in exon 1.


Gene Function

Lady bird genes in Drosophila play important roles in neurogenesis, in myogenesis, and in specifying cardioblasts (Jagla et al., 1998). In the mouse, Lbx2 is expressed in the developing urogenital system, the eye, and the central nervous system (Chen et al., 1999). Chen et al. (2001) demonstrated in transgenic mice that 9 kb of the 5-prime genomic flanking region contains the Lbx2 promoter and regulatory regions that are sufficient to recapitulate endogenous Lbx2 expression. In mouse embryos at 11.5 days of gestation, this promoter exhibited tissue specificity for the urogenital ridge, the trigeminal ganglion, and nodose ganglion.


Gene Structure

Chen et al. (2001) determined that both the mouse and human LBX2 genes contain 2 exons.


Mapping

By radiation hybrid analysis, Chen et al. (2001) mapped the mouse Lbx2 gene to chromosome 6 in a region of conserved synteny with human 2p13-p12. Using electronic PCR, they mapped the human contig containing the LBX2 gene to chromosome 2p13.


REFERENCES

  1. Chen, F., Collin, G. B., Liu, K. C., Beier, D. R., Eccles, M., Nishina, P. M., Moshang, T., Epstein, J. A. Characterization of the murine Lbx2 promoter, identification of the human homologue, and evaluation as a candidate for Alstrom syndrome. Genomics 74: 219-217, 2001. [PubMed: 11386758] [Full Text: https://doi.org/10.1006/geno.2001.6539]

  2. Chen, F., Liu, K. C., Epstein, J. A. Lbx2, a novel murine homeobox gene related to the Drosophila ladybird genes is expressed in the developing urogenital system, eye and brain. Mech. Dev. 84: 181-184, 1999. [PubMed: 10473138] [Full Text: https://doi.org/10.1016/s0925-4773(99)00073-8]

  3. Jagla, T., Bellard, F., Lutz, Y., Dretzen, G., Bellard, M., Jagla, K. Ladybird determines cell fate decisions during diversification of Drosophila somatic muscles. Development 125: 3699-3708, 1998. [PubMed: 9716535] [Full Text: https://doi.org/10.1242/dev.125.18.3699]


Creation Date:
Carol A. Bocchini : 8/23/2002

Edit History:
carol : 09/21/2021
carol : 10/19/2016
terry : 03/18/2004
mgross : 8/26/2002
mgross : 8/26/2002
carol : 8/26/2002



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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: Nov. 17, 2024