Entry - *606017 - POLYMERASE II, RNA, SUBUNIT D; POLR2D - OMIM

 
 
* 606017

POLYMERASE II, RNA, SUBUNIT D; POLR2D


Alternative titles; symbols

RPB4, S. CEREVISIAE, HOMOLOG OF
RNA POLYMERASE II, 16.3-KD SUBUNIT


HGNC Approved Gene Symbol: POLR2D

Cytogenetic location: 2q14.3   Genomic coordinates (GRCh38) : 2:127,843,553-127,858,155 (from NCBI)


▼ TEXT

The DNA-dependent RNA polymerase II (EC 2.7.7.6) is responsible for the transcription of protein-encoding genes. It is composed of 10 to 14 subunits ranging in mass from approximately 220 kD (POLR2A; 180660) to approximately 7 kD (POLR2K; 606033). For general information on the structure and function of RNA polymerase II, see 180660.

▼ Cloning and Expression

Using POLR2G (602013), the human homolog of yeast RPB7, as a probe in a 2-hybrid screen, Khazak et al. (1998) identified POLR2D, the human homolog of yeast RPB4. The full-length POLR2D cDNA encodes a 142-amino acid protein with a calculated molecular mass of 16.3 kD. The protein shares 98% sequence identity with its mouse homolog. Northern blot analysis detected 2- and 5.5-kb POLR2D transcripts in all tissues tested, with highest levels in skeletal muscle and heart. Immunofluorescence studies demonstrated that POLR2D is localized in the nucleus.


▼ Gene Structure

Khazak et al. (1998) determined that the POLR2D gene contains 4 exons and spans approximately 13 kb of genomic DNA.


▼ Gene Function

Khazak et al. (1998) demonstrated that POLR2D associates strongly and specifically with POLR2G when expressed in yeast or in mammalian cells and copurifies with intact pol II. The association of POLR2D and POLR2G appeared to require sequences spanning the N-terminal half of the POLR2D protein, whereas no truncation of POLR2G was observed to associate with POLR2D. Khazak et al. (1998) showed that POLR2D does not detectably associate with yeast RPB7 and only partially complements RPB4 null phenotypes in yeast.


▼ Mapping

By FISH, Khazak et al. (1998) mapped the POLR2D gene to chromosome 2q21.


▼ REFERENCES

  1. Khazak, V., Estojak, J., Cho, H., Majors, J., Sonoda, G., Testa, J. R., Golemis, E. A. Analysis of the interaction of the novel RNA polymerase II (pol II) subunit hsRPB4 with its partner hsRPB7 and with pol II. Molec. Cell. Biol. 18: 1935-1945, 1998. [PubMed: 9528765, images, related citations] [Full Text]


Creation Date:
Carol A. Bocchini : 6/15/2001
Edit History:
carol : 06/19/2001
alopez : 6/19/2001
carol : 6/19/2001
mgross : 6/15/2001
carol : 6/15/2001
carol : 6/15/2001

* 606017

POLYMERASE II, RNA, SUBUNIT D; POLR2D


Alternative titles; symbols

RPB4, S. CEREVISIAE, HOMOLOG OF
RNA POLYMERASE II, 16.3-KD SUBUNIT


HGNC Approved Gene Symbol: POLR2D

Cytogenetic location: 2q14.3   Genomic coordinates (GRCh38) : 2:127,843,553-127,858,155 (from NCBI)


TEXT

The DNA-dependent RNA polymerase II (EC 2.7.7.6) is responsible for the transcription of protein-encoding genes. It is composed of 10 to 14 subunits ranging in mass from approximately 220 kD (POLR2A; 180660) to approximately 7 kD (POLR2K; 606033). For general information on the structure and function of RNA polymerase II, see 180660.

Cloning and Expression

Using POLR2G (602013), the human homolog of yeast RPB7, as a probe in a 2-hybrid screen, Khazak et al. (1998) identified POLR2D, the human homolog of yeast RPB4. The full-length POLR2D cDNA encodes a 142-amino acid protein with a calculated molecular mass of 16.3 kD. The protein shares 98% sequence identity with its mouse homolog. Northern blot analysis detected 2- and 5.5-kb POLR2D transcripts in all tissues tested, with highest levels in skeletal muscle and heart. Immunofluorescence studies demonstrated that POLR2D is localized in the nucleus.


Gene Structure

Khazak et al. (1998) determined that the POLR2D gene contains 4 exons and spans approximately 13 kb of genomic DNA.


Gene Function

Khazak et al. (1998) demonstrated that POLR2D associates strongly and specifically with POLR2G when expressed in yeast or in mammalian cells and copurifies with intact pol II. The association of POLR2D and POLR2G appeared to require sequences spanning the N-terminal half of the POLR2D protein, whereas no truncation of POLR2G was observed to associate with POLR2D. Khazak et al. (1998) showed that POLR2D does not detectably associate with yeast RPB7 and only partially complements RPB4 null phenotypes in yeast.


Mapping

By FISH, Khazak et al. (1998) mapped the POLR2D gene to chromosome 2q21.


REFERENCES

  1. Khazak, V., Estojak, J., Cho, H., Majors, J., Sonoda, G., Testa, J. R., Golemis, E. A. Analysis of the interaction of the novel RNA polymerase II (pol II) subunit hsRPB4 with its partner hsRPB7 and with pol II. Molec. Cell. Biol. 18: 1935-1945, 1998. [PubMed: 9528765] [Full Text: https://doi.org/10.1128/MCB.18.4.1935]


Creation Date:
Carol A. Bocchini : 6/15/2001

Edit History:
carol : 06/19/2001
alopez : 6/19/2001
carol : 6/19/2001
mgross : 6/15/2001
carol : 6/15/2001
carol : 6/15/2001



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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. 16, 2024