Entry - *300101 - BONE MARROW KINASE, X-LINKED; BMX - OMIM
 
* 300101

BONE MARROW KINASE, X-LINKED; BMX


Alternative titles; symbols

PROTEIN TYROSINE KINASE BMX


HGNC Approved Gene Symbol: BMX

Cytogenetic location: Xp22.2     Genomic coordinates (GRCh38): X:15,500,807-15,556,519 (from NCBI)


TEXT

Description

Tyrosine kinases are either receptor molecules, which contain transmembrane and extracellular domains, or nonreceptor proteins, which are located intracellularly. One family of nonreceptor TKs includes the genes TEC (600583), TXK (600058), ITK (186973), and BTK (300300). All of these proteins are homologs of the Drosophila Src28 TK and contain an SH3 and SH2 domain upstream of the TK domain.


Cloning and Expression

Tamagnone et al. (1994) reported the cloning of a human cDNA for a nonreceptor tyrosine kinase gene, which they designated BMX. The BMX cDNA was cloned by degenerate PCR and screening of a human bone marrow cDNA library and has an open reading frame of 675 amino acids. BMX and the other members of this superfamily each contain a so-called pleckstrin homology domain. By Northern blot analysis, Tamagnone et al. (1994) showed that BMX is transcribed in bone marrow as well as endothelial cells, and by Western blot analysis they detected an 80-kD protein corresponding to BMX in human endothelial cells. A similar size protein was identified in COS cells transfected with a BMX expression vector.


Gene Function

Tamagnone et al. (1994) concluded that BMX may play a role in the growth and differentiation of hematopoietic cells.


Mapping

Tamagnone et al. (1994) mapped the BMX gene to Xp22.2 by fluorescence in situ hybridization.


Animal Model

Rajantie et al. (2001) studied the expression of Bmx in mice carrying an inactive Bmx-lacZ fusion gene. Expression was found in the endothelial cells of large arteries and in the endocardium starting between days 10.5 and 12.5 of embryogenesis and continuing in adult mice. Venular endothelium showed only a weak signal. Rajantie et al. (2001) noted no obvious phenotype with loss of Bmx function, suggesting that Bmx tyrosine kinase has a redundant role in arterial endothelial signal transduction.


REFERENCES

  1. Rajantie, I., Ekman, N., Iljin, K., Arighi, E., Gunji, Y., Kaukonen, J., Palotie, A., Dewerchin, M., Carmeliet, P., Alitalo, K. Bmx tyrosine kinase has a redundant function downstream of angiopoietin and vascular endothelial growth factor receptors in arterial endothelium. Molec. Cell. Biol. 21: 4647-4655, 2001. [PubMed: 11416142, images, related citations] [Full Text]

  2. Tamagnone, L., Lahtinen, I., Mustonen, T., Virtaneva, K., Francis, F., Muscatelli, F., Alitalo, R., Edvard Smith, C. I., Larsson, C., Alitalo, K. BMX, a novel nonreceptor tyrosine kinase gene of the BTK/ITK/TEC/TXK family located in chromosome Xp22.2. Oncogene 9: 3683-3688, 1994. [PubMed: 7970727, related citations]


Contributors:
Patricia A. Hartz - updated : 4/24/2002
Creation Date:
Alan F. Scott : 10/22/1997
carol : 04/24/2002
terry : 4/24/2002
joanna : 10/22/1997

* 300101

BONE MARROW KINASE, X-LINKED; BMX


Alternative titles; symbols

PROTEIN TYROSINE KINASE BMX


HGNC Approved Gene Symbol: BMX

Cytogenetic location: Xp22.2     Genomic coordinates (GRCh38): X:15,500,807-15,556,519 (from NCBI)


TEXT

Description

Tyrosine kinases are either receptor molecules, which contain transmembrane and extracellular domains, or nonreceptor proteins, which are located intracellularly. One family of nonreceptor TKs includes the genes TEC (600583), TXK (600058), ITK (186973), and BTK (300300). All of these proteins are homologs of the Drosophila Src28 TK and contain an SH3 and SH2 domain upstream of the TK domain.


Cloning and Expression

Tamagnone et al. (1994) reported the cloning of a human cDNA for a nonreceptor tyrosine kinase gene, which they designated BMX. The BMX cDNA was cloned by degenerate PCR and screening of a human bone marrow cDNA library and has an open reading frame of 675 amino acids. BMX and the other members of this superfamily each contain a so-called pleckstrin homology domain. By Northern blot analysis, Tamagnone et al. (1994) showed that BMX is transcribed in bone marrow as well as endothelial cells, and by Western blot analysis they detected an 80-kD protein corresponding to BMX in human endothelial cells. A similar size protein was identified in COS cells transfected with a BMX expression vector.


Gene Function

Tamagnone et al. (1994) concluded that BMX may play a role in the growth and differentiation of hematopoietic cells.


Mapping

Tamagnone et al. (1994) mapped the BMX gene to Xp22.2 by fluorescence in situ hybridization.


Animal Model

Rajantie et al. (2001) studied the expression of Bmx in mice carrying an inactive Bmx-lacZ fusion gene. Expression was found in the endothelial cells of large arteries and in the endocardium starting between days 10.5 and 12.5 of embryogenesis and continuing in adult mice. Venular endothelium showed only a weak signal. Rajantie et al. (2001) noted no obvious phenotype with loss of Bmx function, suggesting that Bmx tyrosine kinase has a redundant role in arterial endothelial signal transduction.


REFERENCES

  1. Rajantie, I., Ekman, N., Iljin, K., Arighi, E., Gunji, Y., Kaukonen, J., Palotie, A., Dewerchin, M., Carmeliet, P., Alitalo, K. Bmx tyrosine kinase has a redundant function downstream of angiopoietin and vascular endothelial growth factor receptors in arterial endothelium. Molec. Cell. Biol. 21: 4647-4655, 2001. [PubMed: 11416142] [Full Text: https://doi.org/10.1128/MCB.21.14.4647-4655.2001]

  2. Tamagnone, L., Lahtinen, I., Mustonen, T., Virtaneva, K., Francis, F., Muscatelli, F., Alitalo, R., Edvard Smith, C. I., Larsson, C., Alitalo, K. BMX, a novel nonreceptor tyrosine kinase gene of the BTK/ITK/TEC/TXK family located in chromosome Xp22.2. Oncogene 9: 3683-3688, 1994. [PubMed: 7970727]


Contributors:
Patricia A. Hartz - updated : 4/24/2002

Creation Date:
Alan F. Scott : 10/22/1997

Edit History:
carol : 04/24/2002
terry : 4/24/2002
joanna : 10/22/1997