RASGRP2

RASGRP2
Identifiers
Aliases	RASGRP2, CALDAG-GEFI, CDC25L, RAS guanyl releasing protein 2
External IDs	OMIM: 605577; MGI: 1333849; GeneCards: RASGRP2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2MA2
Gene location (Human)
Chr.	Chromosome 11 (human)
End	64,745,456 bp
RNA expression pattern
	Top expressed in
	granulocyte; ; spleen; ; monocyte; ; apex of heart; ; right coronary artery; ; popliteal artery; ; blood; ; tibial arteries; ; lymph node; ; left coronary artery;
	n/a
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	calcium ion binding; metal ion binding; diacylglycerol binding; lipid binding; guanyl-nucleotide exchange factor activity;
Cellular component	cytoplasm; cytosol; cell projection; membrane; plasma membrane; synapse; ruffle membrane; cell junction; neuron projection;
Biological process	cellular response to calcium ion; intracellular signal transduction; small GTPase mediated signal transduction; positive regulation of GTPase activity; regulation of cell growth; Ras protein signal transduction; signal transduction; regulation of molecular function;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	10235
	19395
	ENSG00000068831
	ENSMUSG00000032946
	Q7LDG7
	Q9QUG9
	NM_001098670; NM_001098671; NM_005825; NM_153819; NM_001318398
	NM_011242
	NP_001092140; NP_001092141; NP_001305327; NP_722541
	NP_035372; NP_001351991; NP_001351992
	Wikidata
View/Edit Human	View/Edit Mouse

RAS guanyl-releasing protein 2 is a protein that in humans is encoded by the RASGRP2 gene.

The protein encoded by this gene is a brain-enriched nucleotide exchange factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Two alternatively spliced transcript variants of this gene, encoding distinct isoforms, have been reported.

Clinical significance

Mutations in RASGRP2 are associated with severe bleeding.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000068831 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Kawasaki H, Springett GM, Toki S, Canales JJ, Harlan P, Blumenstiel JP, et al. (November 1998). "A Rap guanine nucleotide exchange factor enriched highly in the basal ganglia". Proceedings of the National Academy of Sciences of the United States of America. 95 (22): 13278–13283. Bibcode:1998PNAS...9513278K. doi:10.1073/pnas.95.22.13278. PMC 23782. PMID 9789079.
1 2 "Entrez Gene: RASGRP2 RAS guanyl releasing protein 2 (calcium and DAG-regulated)".
↑ Canault M, Ghalloussi D, Grosdidier C, Guinier M, Perret C, Chelghoum N, et al. (June 2014). "Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding". The Journal of Experimental Medicine. 211 (7): 1349–1362. doi:10.1084/jem.20130477. PMC 4076591. PMID 24958846.

External links

RASGRP2 human gene location in the UCSC Genome Browser.
RASGRP2 human gene details in the UCSC Genome Browser.

This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000068831 – Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Kawasaki_1998-4] Kawasaki H, Springett GM, Toki S, Canales JJ, Harlan P, Blumenstiel JP, et al. (November 1998). "A Rap guanine nucleotide exchange factor enriched highly in the basal ganglia". Proceedings of the National Academy of Sciences of the United States of America. 95 (22): 13278–13283. Bibcode:1998PNAS...9513278K. doi:10.1073/pnas.95.22.13278. PMC 23782. PMID 9789079.

[entrez-5] 1 2 "Entrez Gene: RASGRP2 RAS guanyl releasing protein 2 (calcium and DAG-regulated)".

[6] Canault M, Ghalloussi D, Grosdidier C, Guinier M, Perret C, Chelghoum N, et al. (June 2014). "Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding". The Journal of Experimental Medicine. 211 (7): 1349–1362. doi:10.1084/jem.20130477. PMC 4076591. PMID 24958846.

RASGRP2

Clinical significance

References

Further reading

External links