RASGRP2 gene

RAS guanyl releasing protein 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a brain-enriched nucleotide exchanged 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. Four alternatively spliced transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

From UniProt:

Functions as a calcium- and DAG-regulated nucleotide exchange factor specifically activating Rap through the exchange of bound GDP for GTP. May also activates other GTPases such as RRAS, RRAS2, NRAS, KRAS but not HRAS. Functions in aggregation of platelets and adhesion of T-lymphocytes and neutrophils probably through inside-out integrin activation. May function in the muscarinic acetylcholine receptor M1/CHRM1 signaling pathway.

From NCBI Gene:

  • Platelet-type bleeding disorder 18

From UniProt:

Bleeding disorder, platelet-type 18 (BDPLT18): A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. [MIM:615888]

Cytogenetic Location: 11q13.1, which is the long (q) arm of chromosome 11 at position 13.1

Molecular Location: base pairs 64,726,911 to 64,745,456 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q13.1, which is the long (q) arm of chromosome 11 at position 13.1
  • CALDAG-GEFI
  • CDC25L