RASGRP2

Chr 11q13.1

RAS guanyl releasing protein 2

Aliases:: CALDAG-GEFI
MANE:: ENST00000394432.8

OMIM: 605577 ↗NCBI: 10235 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

RASGRP2 · Q7LDG7

v62025-08-01

Predicted Aligned Error matrix for RASGRP2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

77.1/ 100

Confident

609 residues

Confidence breakdown

Very high(≥ 90)43%
Confident(70–90)29%
Low(50–70)11%
Very low(< 50)17%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Bleeding and platelet disorders
BIALLELIC, autosomal or pseudoautosomal
Inherited bleeding disorders
BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

platelet-type bleeding disorder 18
0.78
Rare hemorrhagic disorder due to a platelet receptor defect
0.70
Abnormal platelet aggregation
0.41
osteopetrosis
0.37
Abnormal bleeding
0.31
gout
0.30
neurodegenerative disease
0.28
Respiratory insufficiency
0.26
hereditary disease
0.19
Thrombocytopenia
0.14

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

RAS guanyl-releasing protein 2

Functions as a calcium- and DAG-regulated nucleotide exchange factor specifically activating Rap through the exchange of bound GDP for GTP. May also activate 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