Entry - *602230 - SH3 DOMAIN-BINDING GLUTAMIC ACID-RICH PROTEIN; SH3BGR - OMIM

 
 
* 602230

SH3 DOMAIN-BINDING GLUTAMIC ACID-RICH PROTEIN; SH3BGR


HGNC Approved Gene Symbol: SH3BGR

Cytogenetic location: 21q22.2     Genomic coordinates (GRCh38): 21:39,445,865-39,515,506 (from NCBI)


TEXT

▼ Cloning and Expression

Using direct cDNA selection, Scartezzini et al. (1997) identified a gene, symbolized SH3BGR, on chromosome 21q22.3 that is differentially expressed in heart and skeletal muscle. SH3BGR encodes a 239-amino acid protein characterized by the presence of a proline-rich region containing the consensus sequence for an SH3-binding domain and by an acidic carboxy-terminal region containing a glutamic acid-rich domain predicted to assume a coiled-coil structure. The presence of 2 functional domains involved in protein-protein interactions suggested to the authors that SH3BGR may be part of a multimeric complex.


▼ Mapping

Scartezzini et al. (1997) identified the SH3BGR gene on chromosome 21q22.3, proximal to HMG14 (163920).


▼ REFERENCES

  1. Scartezzini, P., Egeo, A., Colella, S., Fumagalli, P., Arrigo, P., Nizetic, D., Taramelli, R., Rasore-Quartino, A. Cloning a new human gene from chromosome 21q22.3 encoding a glutamic acid-rich protein expressed in heart and skeletal muscle. Hum. Genet. 99: 387-392, 1997. [PubMed: 9050928, related citations] [Full Text]


Creation Date:
Stylianos E. Antonarakis : 1/7/1998
Edit History:
mgross : 03/06/2014
carol : 1/23/2013
psherman : 1/27/2000
psherman : 5/17/1999
carol : 1/8/1998

* 602230

SH3 DOMAIN-BINDING GLUTAMIC ACID-RICH PROTEIN; SH3BGR


HGNC Approved Gene Symbol: SH3BGR

Cytogenetic location: 21q22.2     Genomic coordinates (GRCh38): 21:39,445,865-39,515,506 (from NCBI)


TEXT

Cloning and Expression

Using direct cDNA selection, Scartezzini et al. (1997) identified a gene, symbolized SH3BGR, on chromosome 21q22.3 that is differentially expressed in heart and skeletal muscle. SH3BGR encodes a 239-amino acid protein characterized by the presence of a proline-rich region containing the consensus sequence for an SH3-binding domain and by an acidic carboxy-terminal region containing a glutamic acid-rich domain predicted to assume a coiled-coil structure. The presence of 2 functional domains involved in protein-protein interactions suggested to the authors that SH3BGR may be part of a multimeric complex.


Mapping

Scartezzini et al. (1997) identified the SH3BGR gene on chromosome 21q22.3, proximal to HMG14 (163920).


REFERENCES

  1. Scartezzini, P., Egeo, A., Colella, S., Fumagalli, P., Arrigo, P., Nizetic, D., Taramelli, R., Rasore-Quartino, A. Cloning a new human gene from chromosome 21q22.3 encoding a glutamic acid-rich protein expressed in heart and skeletal muscle. Hum. Genet. 99: 387-392, 1997. [PubMed: 9050928] [Full Text: https://doi.org/10.1007/s004390050377]


Creation Date:
Stylianos E. Antonarakis : 1/7/1998

Edit History:
mgross : 03/06/2014
carol : 1/23/2013
psherman : 1/27/2000
psherman : 5/17/1999
carol : 1/8/1998



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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 7, 2024