Entry - *611163 - TOX HIGH MOBILITY GROUP BOX FAMILY MEMBER 2; TOX2 - OMIM

 
 
* 611163

TOX HIGH MOBILITY GROUP BOX FAMILY MEMBER 2; TOX2


Alternative titles; symbols

GRANULOSA CELL HMG-BOX PROTEIN 1; GCX1
CHROMOSOME 20 OPEN READING FRAME 100; C20ORF100


HGNC Approved Gene Symbol: TOX2

Cytogenetic location: 20q13.12   Genomic coordinates (GRCh38) : 20:43,914,852-44,069,616 (from NCBI)


TEXT

▼ Cloning and Expression

Kajitani et al. (2004) screened a rat ovarian granulosa cell cDNA library and identified a novel cDNA, TOX2, which they designated GCX1. The deduced rat protein contains 1 HMG box motif at its center, a nuclear localization signal at the N terminus, and 3 domains consisting of serine-rich, lysine-rich, and proline-rich regions, respectively. The sequence of the protein is 39% identical and 38% similar to the mouse and human TOX proteins (606863), respectively. RT-PCR detected restricted expression of TOX2 in rat hypothalamus, pituitary gland, testis, uterus, and ovary, with highest expression in ovary. In situ hybridization analysis refined the location in the ovary to granulosa cells in early-stage follicles. Expression was very low in large antral follicles and the corpus luteum. Western blot analysis detected a 47.5-kD protein, and GFP-TOX2 fusion analysis localized the protein to the nucleus.


▼ Gene Function

Using GAL4-TOX2 transfection experiments in human hepatoma cells, Kajitani et al. (2004) demonstrated that TOX2 is a strong transcriptional activator. They identified the transactivating domain in the N terminus between amino acids 25 and 63. A construct lacking the NLS failed to localize to the nucleus. Yeast 2-hybrid analysis demonstrated interaction between TOX2 and GIOT1 (ZNF461; 608640).


▼ Mapping

Scott (2007) mapped the TOX2 gene to chromosome 20q13.12 based on an alignment of the TOX2 sequence (GenBank AK055135) with the genomic sequence (build 36.2).

▼ REFERENCES

  1. Kajitani, T., Mizutani, T., Yamada, K., Yazawa, T., Sekiguchi, T., Yoshino, M., Kawata, H., Miyamoto, K. Cloning and characterization of granulosa cell high-mobility group (HMG)-box protein-1, a novel HMG-box transcriptional regulator strongly expressed in rat ovarian granulosa cells. Endocrinology 145: 2307-2318, 2004. [PubMed: 14764631, related citations] [Full Text]

  2. Scott, A. F. Personal Communication. Baltimore, Md. 7/3/2007.


Creation Date:
Alan F. Scott : 7/2/2007
Edit History:
carol : 07/25/2018
carol : 07/03/2007

* 611163

TOX HIGH MOBILITY GROUP BOX FAMILY MEMBER 2; TOX2


Alternative titles; symbols

GRANULOSA CELL HMG-BOX PROTEIN 1; GCX1
CHROMOSOME 20 OPEN READING FRAME 100; C20ORF100


HGNC Approved Gene Symbol: TOX2

Cytogenetic location: 20q13.12   Genomic coordinates (GRCh38) : 20:43,914,852-44,069,616 (from NCBI)


TEXT

Cloning and Expression

Kajitani et al. (2004) screened a rat ovarian granulosa cell cDNA library and identified a novel cDNA, TOX2, which they designated GCX1. The deduced rat protein contains 1 HMG box motif at its center, a nuclear localization signal at the N terminus, and 3 domains consisting of serine-rich, lysine-rich, and proline-rich regions, respectively. The sequence of the protein is 39% identical and 38% similar to the mouse and human TOX proteins (606863), respectively. RT-PCR detected restricted expression of TOX2 in rat hypothalamus, pituitary gland, testis, uterus, and ovary, with highest expression in ovary. In situ hybridization analysis refined the location in the ovary to granulosa cells in early-stage follicles. Expression was very low in large antral follicles and the corpus luteum. Western blot analysis detected a 47.5-kD protein, and GFP-TOX2 fusion analysis localized the protein to the nucleus.


Gene Function

Using GAL4-TOX2 transfection experiments in human hepatoma cells, Kajitani et al. (2004) demonstrated that TOX2 is a strong transcriptional activator. They identified the transactivating domain in the N terminus between amino acids 25 and 63. A construct lacking the NLS failed to localize to the nucleus. Yeast 2-hybrid analysis demonstrated interaction between TOX2 and GIOT1 (ZNF461; 608640).


Mapping

Scott (2007) mapped the TOX2 gene to chromosome 20q13.12 based on an alignment of the TOX2 sequence (GenBank AK055135) with the genomic sequence (build 36.2).

REFERENCES

  1. Kajitani, T., Mizutani, T., Yamada, K., Yazawa, T., Sekiguchi, T., Yoshino, M., Kawata, H., Miyamoto, K. Cloning and characterization of granulosa cell high-mobility group (HMG)-box protein-1, a novel HMG-box transcriptional regulator strongly expressed in rat ovarian granulosa cells. Endocrinology 145: 2307-2318, 2004. [PubMed: 14764631] [Full Text: https://doi.org/10.1210/en.2003-1343]

  2. Scott, A. F. Personal Communication. Baltimore, Md. 7/3/2007.


Creation Date:
Alan F. Scott : 7/2/2007

Edit History:
carol : 07/25/2018
carol : 07/03/2007



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 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® 1966-2025 Johns Hopkins University.
Printed: May 29, 2025