Gene
RASGRP2
RAS guanyl releasing protein 2
- HGNC 9879↗(opens in a new tab)
- Ensembl gene ENSG00000068831↗(opens in a new tab)
- NCBI Gene 10235↗(opens in a new tab)
Summary
- Cytogenetic location
- 11q13.1
- Coordinates
- Chromosome 11: 64,726,911–64,744,142 (GRCh38)
- Exons
- 17 exons across 17.2 kb
- Protein
- 609 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- CALDAG-GEFI
- MANE Select transcript
- ENST00000394432.8NM_001098671.2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Inherited Platelet Function Disorders
- RASGRP2-Related Platelet Disorder (Platelet-Type Bleeding Disorder 18)Autosomal recessive
A recessive disorder caused by changes in RASGRP2 that impairs platelet activation, causing bleeding from the gums and nose and after injury.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Knowing about it helps plan bleeding prevention around surgery, dental work and childbirth, and avoid medicines that affect platelet function.
Osteopetrosis
Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.
- 1 GenCC submitter rates it definitive or strong
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How RASGRP2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.3 kb of the gene's 17.2 kb; 1,830 of those bases code for the protein.
How a genome test reads RASGRP2
6
positions in RASGRP2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 17.2 kb of RASGRP2, introns included, not only the 2.3 kb of exons.
Genes linked to the same conditions
- AMER1APC membrane recruitment protein 1Shares 1 condition
- CA2carbonic anhydrase 2Shares 1 condition
- CLCN7Cl-/H+ antiporter 7Shares 1 condition
- CTSKcathepsin KShares 1 condition
- FERMT3FERM domain containing kindlin 3Shares 1 condition
- LRP5LDL receptor related protein 5Shares 1 condition
- LRRK1leucine rich repeat kinase 1Shares 1 condition
- OSTM1osteoclastogenesis associated transmembrane protein 1Shares 1 condition
- PLEKHM1pleckstrin homology and RUN domain containing M1Shares 1 condition
- SNX10sorting nexin 10Shares 1 condition
- TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3Shares 1 condition
- TNFRSF11ATNF receptor superfamily member 11aShares 1 condition
Traits linked to RASGRP2
The Human Phenotype Ontology lists these as features of the rare conditions RASGRP2 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). RASGRP2 gene: RAS guanyl releasing protein 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/rasgrp2
Dante Labs. RASGRP2 gene: RAS guanyl releasing protein 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rasgrp2
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