Entry - *142972 - HOMEOBOX C6; HOXC6 - OMIM
 
* 142972

HOMEOBOX C6; HOXC6


Alternative titles; symbols

HOMEOBOX 3C; HOX3C
Hox-6.1, MOUSE, HOMOLOG OF


HGNC Approved Gene Symbol: HOXC6

Cytogenetic location: 12q13.13     Genomic coordinates (GRCh38): 12:54,016,888-54,030,823 (from NCBI)


TEXT

Cloning and Expression

Simeone et al. (1987) characterized 2 human cDNA clones, each containing a homeobox region. The corresponding genes, termed c1 (HOXB7; 142962) and c8 (HOXC6), were evaluated in different organs and body parts during human embryonic and fetal development. Differential expression suggested that the genes play a key role in a variety of developmental processes.

Homeodomain-containing proteins are transcription factors that regulate the coordinated expression of multiple genes involved in development, differentiation, and malignant transformation. Chariot et al. (1996) cloned 2 distinct forms of HOXC6 cDNA from the human breast cancer cell line MCF7. These cDNAs correspond to 2.2- and 1.8-kb transcripts that differ at their 5-prime ends and encode 153- and 235-amino acid homeodomain-containing proteins, respectively. The authors found that the 2.2-kb HOXC6 transcript is downregulated in human breast cancer cells, whereas the 1.8-kb transcript is expressed in many human tumors, including breast and ovarian carcinomas. Chariot et al. (1996) showed that both HOXC6 gene products can repress transcription from a consensus HOX-binding sequence in MDA-MB231 breast cancer cells and can cooperate with other HOX proteins, such as HOXB7, on their target genes.


Mapping

As reviewed by Acampora et al. (1989), the homeobox region 3, which maps to chromosome 12q12-q13, contains at least 7 homeobox genes in 160 kb of DNA. The order of genes, from 5-prime to 3-prime, is HOX3G (142976), HOX3F (142975), HOX3B (142971), HOX3A (142970), HOX3C, HOX3D (142973), HOX3E (142974).


REFERENCES

  1. Acampora, D., D'Esposito, M., Faiella, A., Pannese, M., Migliaccio, E., Morelli, F., Stornaiuolo, A., Nigro, V., Simeone, A., Boncinelli, E. The human HOX gene family. Nucleic Acids Res. 17: 10385-10402, 1989. [PubMed: 2574852, related citations] [Full Text]

  2. Chariot, A., Castronovo, V., Le, P., Gillet, C., Sobel, M. E., Gielen, J. Cloning and expression of a new HOXC6 transcript encoding a repressing protein. Biochem. J. 319: 91-97, 1996. [PubMed: 8870653, related citations] [Full Text]

  3. Simeone, A., Mavilio, F., Acampora, D., Giampaolo, A., Faiella, A., Zappavigna, V., D'Esposito, M., Pannese, M., Russo, G., Boncinelli, E., Peschle, C. Two human homeobox genes, c1 and c8: structure analysis and expression in embryonic development. Proc. Nat. Acad. Sci. 84: 4914-4918, 1987. [PubMed: 2885844, related citations] [Full Text]


Contributors:
Sheryl A. Jankowski - updated : 6/24/1999
Creation Date:
Victor A. McKusick : 8/22/1990
alopez : 07/15/2014
alopez : 7/10/2014
alopez : 7/10/2014
terry : 3/18/2004
carol : 3/28/2000
carol : 3/27/2000
psherman : 6/24/1999
dkim : 6/26/1998
alopez : 6/4/1997
supermim : 3/16/1992
carol : 8/22/1990

* 142972

HOMEOBOX C6; HOXC6


Alternative titles; symbols

HOMEOBOX 3C; HOX3C
Hox-6.1, MOUSE, HOMOLOG OF


HGNC Approved Gene Symbol: HOXC6

Cytogenetic location: 12q13.13     Genomic coordinates (GRCh38): 12:54,016,888-54,030,823 (from NCBI)


TEXT

Cloning and Expression

Simeone et al. (1987) characterized 2 human cDNA clones, each containing a homeobox region. The corresponding genes, termed c1 (HOXB7; 142962) and c8 (HOXC6), were evaluated in different organs and body parts during human embryonic and fetal development. Differential expression suggested that the genes play a key role in a variety of developmental processes.

Homeodomain-containing proteins are transcription factors that regulate the coordinated expression of multiple genes involved in development, differentiation, and malignant transformation. Chariot et al. (1996) cloned 2 distinct forms of HOXC6 cDNA from the human breast cancer cell line MCF7. These cDNAs correspond to 2.2- and 1.8-kb transcripts that differ at their 5-prime ends and encode 153- and 235-amino acid homeodomain-containing proteins, respectively. The authors found that the 2.2-kb HOXC6 transcript is downregulated in human breast cancer cells, whereas the 1.8-kb transcript is expressed in many human tumors, including breast and ovarian carcinomas. Chariot et al. (1996) showed that both HOXC6 gene products can repress transcription from a consensus HOX-binding sequence in MDA-MB231 breast cancer cells and can cooperate with other HOX proteins, such as HOXB7, on their target genes.


Mapping

As reviewed by Acampora et al. (1989), the homeobox region 3, which maps to chromosome 12q12-q13, contains at least 7 homeobox genes in 160 kb of DNA. The order of genes, from 5-prime to 3-prime, is HOX3G (142976), HOX3F (142975), HOX3B (142971), HOX3A (142970), HOX3C, HOX3D (142973), HOX3E (142974).


REFERENCES

  1. Acampora, D., D'Esposito, M., Faiella, A., Pannese, M., Migliaccio, E., Morelli, F., Stornaiuolo, A., Nigro, V., Simeone, A., Boncinelli, E. The human HOX gene family. Nucleic Acids Res. 17: 10385-10402, 1989. [PubMed: 2574852] [Full Text: https://doi.org/10.1093/nar/17.24.10385]

  2. Chariot, A., Castronovo, V., Le, P., Gillet, C., Sobel, M. E., Gielen, J. Cloning and expression of a new HOXC6 transcript encoding a repressing protein. Biochem. J. 319: 91-97, 1996. [PubMed: 8870653] [Full Text: https://doi.org/10.1042/bj3190091]

  3. Simeone, A., Mavilio, F., Acampora, D., Giampaolo, A., Faiella, A., Zappavigna, V., D'Esposito, M., Pannese, M., Russo, G., Boncinelli, E., Peschle, C. Two human homeobox genes, c1 and c8: structure analysis and expression in embryonic development. Proc. Nat. Acad. Sci. 84: 4914-4918, 1987. [PubMed: 2885844] [Full Text: https://doi.org/10.1073/pnas.84.14.4914]


Contributors:
Sheryl A. Jankowski - updated : 6/24/1999

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

Edit History:
alopez : 07/15/2014
alopez : 7/10/2014
alopez : 7/10/2014
terry : 3/18/2004
carol : 3/28/2000
carol : 3/27/2000
psherman : 6/24/1999
dkim : 6/26/1998
alopez : 6/4/1997
supermim : 3/16/1992
carol : 8/22/1990