Entry - *619544 - PROLINE-RICH COILED-COIL PROTEIN 2B; PRRC2B - OMIM

 
 
* 619544

PROLINE-RICH COILED-COIL PROTEIN 2B; PRRC2B


Alternative titles; symbols

KIAA0515


HGNC Approved Gene Symbol: PRRC2B

Cytogenetic location: 9q34.13     Genomic coordinates (GRCh38): 9:131,373,651-131,500,193 (from NCBI)


TEXT

▼ Cloning and Expression

Nagase et al. (1998) cloned PRRC2B, which they called KIAA0515, from a human brain cDNA library. The deduced protein contains 670 amino acids and shares weak similarity with human BAT2 (PRRC2A; 142580). PRRC2B had an apparent molecular mass of 80 kD by SDS-PAGE. RT-PCR analysis showed moderate expression of PRRC2B in kidney, low expression in ovary, small intestine, and placenta, and little to no expression in other human tissues examined.

Mei et al. (2013) noted that PRRC2B is highly conserved in vertebrates, with over 92% amino acid homology among human, mouse, rat, cattle, and pig PRRC2B proteins. Western blot analysis showed high expression of Prrc2b in whole rat brain at embryonic day-18 (E18), postnatal day-1 (P1), and P7, but low expression at P15 and in adulthood. Immunohistochemical analysis revealed Prrc2b localization in plasma and neurites of large neurons that were widely distributed in most rat brain regions. At P1 and P7, Prrc2b protein was highly expressed in neuron plasma, especially in the prominences and branches, whereas at P15 and in adulthood, Prrc2b was only weakly expressed in neuron plasma.


▼ Mapping

By radiation hybrid analysis, Nagase et al. (1998) mapped the PRRC2B gene to chromosome 9.

Gross (2021) mapped the PRRC2B gene to chromosome 9q34.13 based on an alignment of the PRRC2B sequence (GenBank AF062385) with the genomic sequence (GRCh38).

▼ REFERENCES

  1. Gross, M. B. Personal Communication. Baltimore, Md. 9/27/2021.

  2. Mei, Q., Liu, J., Liu, Y., Li, C., Wang, H., Li, H., Chen, X., Lan, X. Expression of proline-rich coiled-coil 2B protein in developing rat brains. Neurosci. Lett. 557: 171-176, 2013. [PubMed: 24466597, related citations]

  3. Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res. 5: 31-39, 1998. [PubMed: 9628581, related citations] [Full Text]


Creation Date:
Matthew B. Gross : 09/27/2021
Edit History:
carol : 09/29/2021
mgross : 09/27/2021

* 619544

PROLINE-RICH COILED-COIL PROTEIN 2B; PRRC2B


Alternative titles; symbols

KIAA0515


HGNC Approved Gene Symbol: PRRC2B

Cytogenetic location: 9q34.13     Genomic coordinates (GRCh38): 9:131,373,651-131,500,193 (from NCBI)


TEXT

Cloning and Expression

Nagase et al. (1998) cloned PRRC2B, which they called KIAA0515, from a human brain cDNA library. The deduced protein contains 670 amino acids and shares weak similarity with human BAT2 (PRRC2A; 142580). PRRC2B had an apparent molecular mass of 80 kD by SDS-PAGE. RT-PCR analysis showed moderate expression of PRRC2B in kidney, low expression in ovary, small intestine, and placenta, and little to no expression in other human tissues examined.

Mei et al. (2013) noted that PRRC2B is highly conserved in vertebrates, with over 92% amino acid homology among human, mouse, rat, cattle, and pig PRRC2B proteins. Western blot analysis showed high expression of Prrc2b in whole rat brain at embryonic day-18 (E18), postnatal day-1 (P1), and P7, but low expression at P15 and in adulthood. Immunohistochemical analysis revealed Prrc2b localization in plasma and neurites of large neurons that were widely distributed in most rat brain regions. At P1 and P7, Prrc2b protein was highly expressed in neuron plasma, especially in the prominences and branches, whereas at P15 and in adulthood, Prrc2b was only weakly expressed in neuron plasma.


Mapping

By radiation hybrid analysis, Nagase et al. (1998) mapped the PRRC2B gene to chromosome 9.

Gross (2021) mapped the PRRC2B gene to chromosome 9q34.13 based on an alignment of the PRRC2B sequence (GenBank AF062385) with the genomic sequence (GRCh38).

REFERENCES

  1. Gross, M. B. Personal Communication. Baltimore, Md. 9/27/2021.

  2. Mei, Q., Liu, J., Liu, Y., Li, C., Wang, H., Li, H., Chen, X., Lan, X. Expression of proline-rich coiled-coil 2B protein in developing rat brains. Neurosci. Lett. 557: 171-176, 2013. [PubMed: 24466597]

  3. Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res. 5: 31-39, 1998. [PubMed: 9628581] [Full Text: https://doi.org/10.1093/dnares/5.1.31]


Creation Date:
Matthew B. Gross : 09/27/2021

Edit History:
carol : 09/29/2021
mgross : 09/27/2021



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.

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: April 23, 2024