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  2. RASGRP2 - RAS guanyl releasing protein 2 Gene

RASGRP2 - RAS guanyl releasing protein 2 Gene

Homo sapiens

Also known as CDC25L; CALDAG-GEFI

Gene ID: 10235 | Gene type: protein coding

About RASGRP2

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:64,726,911-64,745,456 (from NCBI)

This gene has 23 transcripts (splice variants), 204 orthologues, 24 paralogues and is associated with 2 phenotypes. Broad expression in bone marrow (RPKM 28.4), lymph node (RPKM 27.5) and 17 other tissues.

Summary

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]

RASGRP2 Products(4)

mRNA Protein Name
NM_001098670.2 NP_001092140.1 RAS guanyl-releasing protein 2 isoform a
NM_001098671.2 NP_001092141.1 RAS guanyl-releasing protein 2 isoform a
NM_001318398.2 NP_001305327.1 RAS guanyl-releasing protein 2 isoform b
NM_153819.1 NP_722541.1 RAS guanyl-releasing protein 2 isoform a

RASGRP2 Protein Structure

RasGEF_N

RasGEF_N: RasGEF N-terminal motif (9 - 102)

RasGEF

RasGEF: RasGEF domain (153 - 324)

EF-hand_5

EF-hand_5: EF hand (432 - 452)

C1_1

C1_1: Phorbol esters/diacylglycerol binding domain (C1 domain) (499 - 550)

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  • 609 a.a.
Protein Preferred Names Protein Names

RAS guanyl-releasing protein 2

F25B3.3 kinase-like protein

Related Diseases

Diseases Alias
Bleeding Disorder, Platelet-Type, 18

Platelet-Type Bleeding Disorder 18

BDPLT18

Bleeding Disorder Due To Calcium- And Dag-Regulated Guanine Exchange Factor-1 Deficiency

Bleeding Disorder Due To Caldag-Gefi Deficiency

Bleeding Disorder, Platelet Type 18

Leukocyte Adhesion Deficiency, Type Iii

Leukocyte Adhesion Deficiency 3

LAD3

Leukocyte Adhesion Deficiency 1 Variant

Lad1v

Integrin Activation Deficiency Disease

Iadd

Leukocyte Adhesion Deficiency Type Iii

Lad1 Variant

Lad-1 Variant

Lad-Iii

Leukocyte Adhesion Deficiency-1 Variant

Leukocyte Adhesion Deficiency Type 1

Leukocyte Adhesion Deficiency, Type I

Leukocyte Adhesion Deficiency

Leukocyte Adhesion Deficiency 1

LAD1

Lad

Lymphocyte Function-Associated Antigen 1 Immunodeficiency

Leukocyte Adhesion Deficiency Type I

Leukocyte Adhesion Deficiency Type 1

Linear Iga Bullous Dermatosis

Linear Iga Dermatosis

Leukocyte-Adhesion Deficiency Syndrome

Lfa1 Immunodeficiency

Congenital Leukocyte Adherence Deficiency

Lad-I

Linear Iga Disease

Leukocyte Adhesion Deficiency Syndrome

Lad 1

Lfa 1 Immunodeficiency

Linear Immunoglobulin A Dermatosis

Leucocyte Adhesion Deficiency Type 1

Leukocyte Adhesion Molecule Deficiency Type 1

Thrombasthenia
Glanzmann Thrombasthenia 1

Glanzmann Thrombasthenia

Thrombasthenia Of Glanzmann And Naegeli

Glanzmann'S Thrombasthenia

Bdplt2

Platelet Glycoprotein Iib-Iiia Deficiency

Deficiency Of Platelet Fibrinogen Receptor

GT1

Gt

Platelet Fibrinogen Receptor Deficiency

Glycoprotein Complex Iib-Iiia Deficiency

Deficiency Of Glycoprotein Complex Iib-Iiia

Glycoprotein Iib/Iiia Defect

Glanzmann Thrombasthenia, Type A

Thrombasthenia

Bleeding Disorder, Platelet-Type, 2

Gp Iib-Iiia Complex Deficiency

Deficiency Of Gp Iib-Iiia Complex

Platelet-Type Bleeding Disorder 2

Thrombocytasthenia

Deficiency Of Gp 2b 3a Complex

Diacyclothrombopathia 2b 3a

Glanzmann Thrombasthenia Type A

Platelet Fibrinogen Receptor, Deficiency Of

Platelet Glycoprotein 2b 3a Deficiency

Glanzmann Disease

Glanzmann-Naegeli Disorder

Hereditary Hemorrhagic Thrombasthenia

Hereditary Thrombasthenia

Bleeding Disorder Platelet-Type 2

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia

Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus RASGRP2 VGNC VGNC:33748
Felis catus RASGRP2 VGNC VGNC:104320
Macaca mulatta RASGRP2 VGNC VGNC:76672
Rattus norvegicus RASGRP2 RGD RGD:1311630
Canis familiaris RASGRP2 VGNC VGNC:45372
Mus musculus RASGRP2 MGD MGI:1333849