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* 142964

HOMEOBOX B9; HOXB9


Alternative titles; symbols

HOMEOBOX 2E; HOX2E
Hox-2.5, MOUSE, HOMOLOG OF


HGNC Approved Gene Symbol:HOXB9

Cytogenetic location:17q21.32   Genomic coordinates(GRCh38) :17:48,621,156-48,626,358 (from NCBI)


TEXT

Description

About 200 homeobox genes in humans code for transcription factors, and those that are grouped into clusters, like HOXB9, are generally involved in the regulation of embryonal development (Nagel et al., 2007). See142960.


Gene Function

Nagel et al. (2007) stated that Hoxb9 expression is upregulated during neural tube development in embryonal Xenopus. Using expression profiling and RT-PCR, they found that HOXB9 expression was also upregulated in a significant number of hematopoietic cell lines, predominantly those originating from Hodgkin lymphoma (236000), anaplastic large cell lymphoma, and mediastinal large B-cell lymphoma. Analysis of HOXB9 regulation in Hodgkin lymphoma cell lines revealed regulation of HOXB9 by E2F3A (E2F3;600427), ERK5 (MAPK7602521), PI3 kinase (see601232), and JAK (see147795)/STAT (see600555) signaling.

Using in situ hybridization,Hayashida et al. (2010) found that HOXB9 expression in normal breast epithelium was restricted to the basal and luminal cells, with no stromal expression. In a significant fraction of breast cancers, specifically those of high histologic grade, HOXB9 expression was elevated. Expression of HOXB9 in both breast cancer and nontransformed mammary epithelial cells led to the expression of TGF-beta (see190180), ERBB ligands (see EGFR,131550), and several angiogenic factors, resulting in induction of mesenchymal cell fate, invasion, and angiogenesis. In mouse tumor xenograft models, HOXB9 expression promoted increased neovascularization and tumor metastasis to the lung.

Chiba et al. (2012) found that expression of HOXB9 in MCF10A breast cancer cells and in human mammary epithelial cells induced spontaneous DNA damage, with increased formation of phosphorylated H2AX (601772)- and 53BP1 (605230)-positive nuclear foci and enhanced DNA double-strand break repair. Expression of HOXB9 also conferred resistance to ionizing irradiation in transfected cells by promoting ATM (607585) activation and DNA double-strand break repair via a TGF-beta-dependent mechanism.


Mapping

Using FISH,Nagel et al. (2007) mapped the HOXB9 gene to the HOXB gene cluster on chromosome 17q21.


REFERENCES

  1. Chiba, N., Comaills, V., Shiotani, B., Takahashi, F., Shimada, T., Tajima, K., Winokur, D., Hayashida, T., Willers, H., Brachtel, E., Vivanco, M. M., Haber, D. A., Zou, L., Maheswaran, S.Homeobox B9 induces epithelial-to-mesenchymal transition-associated radioresistance by accelerating DNA damage responses. Proc. Nat. Acad. Sci. 109: 2760-2765, 2012. [PubMed:21930940,images,related citations] [Full Text]

  2. Hayashida, T., Takahashi, F., Chiba, N., Brachtel, E., Takahashi, M., Godin-Heymann, N., Gross, K. W., Vivanco, M. M., Wijendran, V., Shioda, T., Sgroi, D., Donahoe, P. K., Maheswaran, S.HOXB9, a gene overexpressed in breast cancer, promotes tumorigenicity and lung metastasis. Proc. Nat. Acad. Sci. 107: 1100-1105, 2010. [PubMed:20080567,images,related citations] [Full Text]

  3. Nagel, S., Burek, C., Venturini, L., Scherr, M., Quentmeier, H., Meyer, C., Rosenwald, A., Drexler, H. G., MacLeod, R. A. F.Comprehensive analysis of homeobox genes in Hodgkin lymphoma cell lines identifies dysregulated expression of HOXB9 mediated via ERK5 signaling and BMI1. Blood 109: 3015-3023, 2007. [PubMed:17148583,related citations] [Full Text]


Contributors:
Patricia A. Hartz - updated : 7/11/2012
Creation Date:
Victor A. McKusick : 8/22/1990
alopez : 08/21/2012
terry : 7/11/2012
terry : 3/18/2004
alopez : 4/11/2000
dkim : 7/21/1998
dkim : 6/26/1998
alopez : 6/4/1997
mark : 8/19/1996
marlene : 8/15/1996
supermim : 3/16/1992
carol : 8/22/1990

* 142964

HOMEOBOX B9; HOXB9


Alternative titles; symbols

HOMEOBOX 2E; HOX2E
Hox-2.5, MOUSE, HOMOLOG OF


HGNC Approved Gene Symbol: HOXB9

Cytogenetic location: 17q21.32   Genomic coordinates(GRCh38) : 17:48,621,156-48,626,358(from NCBI)


TEXT

Description

About 200 homeobox genes in humans code for transcription factors, and those that are grouped into clusters, like HOXB9, are generally involved in the regulation of embryonal development (Nagel et al., 2007). See 142960.


Gene Function

Nagel et al. (2007) stated that Hoxb9 expression is upregulated during neural tube development in embryonal Xenopus. Using expression profiling and RT-PCR, they found that HOXB9 expression was also upregulated in a significant number of hematopoietic cell lines, predominantly those originating from Hodgkin lymphoma (236000), anaplastic large cell lymphoma, and mediastinal large B-cell lymphoma. Analysis of HOXB9 regulation in Hodgkin lymphoma cell lines revealed regulation of HOXB9 by E2F3A (E2F3; 600427), ERK5 (MAPK7 602521), PI3 kinase (see 601232), and JAK (see 147795)/STAT (see 600555) signaling.

Using in situ hybridization, Hayashida et al. (2010) found that HOXB9 expression in normal breast epithelium was restricted to the basal and luminal cells, with no stromal expression. In a significant fraction of breast cancers, specifically those of high histologic grade, HOXB9 expression was elevated. Expression of HOXB9 in both breast cancer and nontransformed mammary epithelial cells led to the expression of TGF-beta (see 190180), ERBB ligands (see EGFR, 131550), and several angiogenic factors, resulting in induction of mesenchymal cell fate, invasion, and angiogenesis. In mouse tumor xenograft models, HOXB9 expression promoted increased neovascularization and tumor metastasis to the lung.

Chiba et al. (2012) found that expression of HOXB9 in MCF10A breast cancer cells and in human mammary epithelial cells induced spontaneous DNA damage, with increased formation of phosphorylated H2AX (601772)- and 53BP1 (605230)-positive nuclear foci and enhanced DNA double-strand break repair. Expression of HOXB9 also conferred resistance to ionizing irradiation in transfected cells by promoting ATM (607585) activation and DNA double-strand break repair via a TGF-beta-dependent mechanism.


Mapping

Using FISH, Nagel et al. (2007) mapped the HOXB9 gene to the HOXB gene cluster on chromosome 17q21.


REFERENCES

  1. Chiba, N., Comaills, V., Shiotani, B., Takahashi, F., Shimada, T., Tajima, K., Winokur, D., Hayashida, T., Willers, H., Brachtel, E., Vivanco, M. M., Haber, D. A., Zou, L., Maheswaran, S.Homeobox B9 induces epithelial-to-mesenchymal transition-associated radioresistance by accelerating DNA damage responses. Proc. Nat. Acad. Sci. 109: 2760-2765, 2012. [PubMed: 21930940] [Full Text: https://doi.org/10.1073/pnas.1018867108]

  2. Hayashida, T., Takahashi, F., Chiba, N., Brachtel, E., Takahashi, M., Godin-Heymann, N., Gross, K. W., Vivanco, M. M., Wijendran, V., Shioda, T., Sgroi, D., Donahoe, P. K., Maheswaran, S.HOXB9, a gene overexpressed in breast cancer, promotes tumorigenicity and lung metastasis. Proc. Nat. Acad. Sci. 107: 1100-1105, 2010. [PubMed: 20080567] [Full Text: https://doi.org/10.1073/pnas.0912710107]

  3. Nagel, S., Burek, C., Venturini, L., Scherr, M., Quentmeier, H., Meyer, C., Rosenwald, A., Drexler, H. G., MacLeod, R. A. F.Comprehensive analysis of homeobox genes in Hodgkin lymphoma cell lines identifies dysregulated expression of HOXB9 mediated via ERK5 signaling and BMI1. Blood 109: 3015-3023, 2007. [PubMed: 17148583] [Full Text: https://doi.org/10.1182/blood-2006-08-044347]


Contributors:
Patricia A. Hartz - updated : 7/11/2012

Creation Date:
Victor A. McKusick : 8/22/1990

Edit History:
alopez : 08/21/2012
terry : 7/11/2012
terry : 3/18/2004
alopez : 4/11/2000
dkim : 7/21/1998
dkim : 6/26/1998
alopez : 6/4/1997
mark : 8/19/1996
marlene : 8/15/1996
supermim : 3/16/1992
carol : 8/22/1990



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2026 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® 1966-2026 Johns Hopkins University.
Printed: Feb. 20, 2026

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