Entry - *610487 - KH DOMAIN-CONTAINING, RNA-BINDING, SIGNAL TRANSDUCTION-ASSOCIATED PROTEIN 2; KHDRBS2 - OMIM

 
 
* 610487

KH DOMAIN-CONTAINING, RNA-BINDING, SIGNAL TRANSDUCTION-ASSOCIATED PROTEIN 2; KHDRBS2


Alternative titles; symbols

SLM1


HGNC Approved Gene Symbol: KHDRBS2

Cytogenetic location: 6q11.1     Genomic coordinates (GRCh38): 6:61,542,670-62,286,225 (from NCBI)


TEXT

▼ Cloning and Expression

By large-scale sequencing of clones obtained from a human fetal brain cDNA library, Wang et al. (2002) identified KHDRBS2. The deduced 349-amino acid protein has a calculated molecular mass of 38.9 kD. It has a KH domain embedded within an N-terminal STAR (signal transduction and activation of RNA) domain, and its C terminus contains proline-rich sequences, arginine-glycine repeats, and a tyrosine-rich region. The KH domain of KHDRBS2 shares 86.4% and 78.6% identity with the KH domains of SALP (KHDRBS3; 610421) and SAM68 (KHDRBS1; 602489), respectively. RT-PCR detected ubiquitous expression of KHDRBS2, with highest levels in brain, lung, kidney, and small intestine, and lower levels in placenta, liver, spleen, thymus, ovary, and colon.


▼ Gene Function

Cote et al. (2003) showed that several mammalian RNA-binding proteins, including SLM1, associated with and were methylated by protein arginine N-methyltransferase-1 (PRMT1; 602950) in vivo.


▼ Gene Structure

Wang et al. (2002) determined that the KHDRBS2 gene contains at least 9 exons.


▼ Mapping

By genomic sequence analysis, Wang et al. (2002) mapped the KHDRBS2 gene to chromosome 6.


▼ REFERENCES

  1. Cote, J., Boisvert, F.-M., Boulanger, M.-C., Bedford, M. T., Richard, S. Sam68 RNA binding protein is an in vivo substrate for protein arginine N-methyltransferase 1. Molec. Biol. Cell 14: 274-287, 2003. [PubMed: 12529443, images, related citations] [Full Text]

  2. Wang, L., Xu, J., Zeng, L., Ye, X., Wu, Q., Dai, J., Ji, C., Gu, S., Zhao, C., Xie, Y., Mao, Y. Cloning and characterization of a novel human STAR domain containing cDNA KHDRBS2. Molec. Biol. Rep. 29: 369-375, 2002. [PubMed: 12549823, related citations] [Full Text]


Creation Date:
Patricia A. Hartz : 10/12/2006
Edit History:
carol : 06/19/2019
mgross : 10/12/2006

* 610487

KH DOMAIN-CONTAINING, RNA-BINDING, SIGNAL TRANSDUCTION-ASSOCIATED PROTEIN 2; KHDRBS2


Alternative titles; symbols

SLM1


HGNC Approved Gene Symbol: KHDRBS2

Cytogenetic location: 6q11.1     Genomic coordinates (GRCh38): 6:61,542,670-62,286,225 (from NCBI)


TEXT

Cloning and Expression

By large-scale sequencing of clones obtained from a human fetal brain cDNA library, Wang et al. (2002) identified KHDRBS2. The deduced 349-amino acid protein has a calculated molecular mass of 38.9 kD. It has a KH domain embedded within an N-terminal STAR (signal transduction and activation of RNA) domain, and its C terminus contains proline-rich sequences, arginine-glycine repeats, and a tyrosine-rich region. The KH domain of KHDRBS2 shares 86.4% and 78.6% identity with the KH domains of SALP (KHDRBS3; 610421) and SAM68 (KHDRBS1; 602489), respectively. RT-PCR detected ubiquitous expression of KHDRBS2, with highest levels in brain, lung, kidney, and small intestine, and lower levels in placenta, liver, spleen, thymus, ovary, and colon.


Gene Function

Cote et al. (2003) showed that several mammalian RNA-binding proteins, including SLM1, associated with and were methylated by protein arginine N-methyltransferase-1 (PRMT1; 602950) in vivo.


Gene Structure

Wang et al. (2002) determined that the KHDRBS2 gene contains at least 9 exons.


Mapping

By genomic sequence analysis, Wang et al. (2002) mapped the KHDRBS2 gene to chromosome 6.


REFERENCES

  1. Cote, J., Boisvert, F.-M., Boulanger, M.-C., Bedford, M. T., Richard, S. Sam68 RNA binding protein is an in vivo substrate for protein arginine N-methyltransferase 1. Molec. Biol. Cell 14: 274-287, 2003. [PubMed: 12529443] [Full Text: https://doi.org/10.1091/mbc.e02-08-0484]

  2. Wang, L., Xu, J., Zeng, L., Ye, X., Wu, Q., Dai, J., Ji, C., Gu, S., Zhao, C., Xie, Y., Mao, Y. Cloning and characterization of a novel human STAR domain containing cDNA KHDRBS2. Molec. Biol. Rep. 29: 369-375, 2002. [PubMed: 12549823] [Full Text: https://doi.org/10.1023/a:1021246109101]


Creation Date:
Patricia A. Hartz : 10/12/2006

Edit History:
carol : 06/19/2019
mgross : 10/12/2006



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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: May 27, 2024