GeneID: 268
Names
Common Name: | RHPN2 | Type: | Gene |
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Chromosome: | 19 (NC_000019.10) | Locus: | NM_033103.5 (RHPN2) |
HUGO Symbol: | RHPN2 | Full Name: | rhophilin Rho GTPase binding protein 2 |
Exons: | 15 | Introns: | 14 |
Description:
This gene encodes a member of the rhophilin family of Ras-homologous (Rho)-GTPase binding proteins. The encoded protein binds both GTP- and GDP-bound RhoA and GTP-bound RhoB and may be involved in the organization of the actin cytoskeleton. Rho GTPases infuence progression through the cell cycle and have been investigated as targets for cancer intervention. A variation in RHPN2 associated with Hb F response to hydroxyurea in sickle cell disease cohorts.
Synonyms: RHOBP , P76RBE
Comments:
N/A
Number of entries/variants: 1
Sequence Viewer
Publications / Origin
- Peck JW, Oberst M, Bouker KB, Bowden E, Burbelo PD, The RhoA-binding protein, rhophilin-2, regulates actin cytoskeleton organization., J. Biol. Chem., 277(46), 43924-32, 2002 PubMed
- Sheehan VA, Crosby JR, Sabo A, Mortier NA, Howard TA, Muzny DM, Dugan-Perez S, Aygun B, Nottage KA, Boerwinkle E, Gibbs RA, Ware RE, Flanagan JM, Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia., PLoS ONE , 9(10), e110740, 2014 PubMed
- Smithers CC, Overduin M, Structural Mechanisms and Drug Discovery Prospects of Rho GTPases., Cells, 5(2), , 2016 PubMed
A/A | Date | Curator(s) | Comments |
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1 | 2019-09-24 11:41:19 | The IthaGenes Curation Team | Created |