RASGRP2 (RAS guanyl releasing protein 2)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10235
Gene name Gene Name - the full gene name approved by the HGNC.
RAS guanyl releasing protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RASGRP2
Synonyms (NCBI Gene) Gene synonyms aliases
CALDAG-GEFI, CDC25L
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.1
Summary Summary of gene provided in NCBI Entrez 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 act
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(15)
SNP ID Visualize variation Clinical significance Consequence
rs2959650 A>C Likely-pathogenic Splice donor variant, upstream transcript variant, genic upstream transcript variant
rs181901181 C>A,G,T Uncertain-significance, conflicting-interpretations-of-pathogenicity Intron variant
rs200434813 C>G,T Likely-pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
rs374345558 C>G,T Likely-pathogenic Missense variant, genic downstream transcript variant, coding sequence variant, synonymous variant
rs587777529 C>A,T Pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(17)
GO ID Ontology Definition Evidence Reference
GO:0001558 Process Regulation of cell growth NAS 10918068
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 24958846
GO:0005085 Function Guanyl-nucleotide exchange factor activity TAS 9789079
GO:0005509 Function Calcium ion binding NAS 10918068
GO:0005509 Function Calcium ion binding TAS 9789079
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605577 9879 ENSG00000068831
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q7LDG7
Protein name RAS guanyl-releasing protein 2 (Calcium and DAG-regulated guanine nucleotide exchange factor I) (CalDAG-GEFI) (Cdc25-like protein) (hCDC25L) (F25B3.3 kinase-like protein)
Protein function 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
PDB 2MA2 , 6AXF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00618 RasGEF_N 9 → 103 RasGEF N-terminal motif Domain
PF00617 RasGEF 157 → 335 RasGEF domain Family
PF13202 EF-hand_5 461 → 485 EF hand Domain
PF00130 C1_1 499 → 551 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
Tissue specificity TISSUE SPECIFICITY: Detected in platelets, neutrophils and T lymphocytes (at protein level). Expressed in brain where it is enriched in the striatum. Also expressed in the hematopoietic system. Detected in heart, brain, lung, placenta, liver, skeletal mus
Sequence 
MAGTLDLDKGCTVEELLRGCIEAFDDSGKVRDPQLVRMFLMMHPWYIPSSQLAAKLLHIY
QQSRKDNSNSLQVKTCHLVRYWISAFPAEFDLNPELAEQIKELKALLDQEGNRRHSSLID
IDSVPTYKWKRQVTQRNPVGQKKRKMSLLFDHLEPMELAEHLTYLEYRSFCKILFQDYHS
FVTHGCTVDNPVLERFISLFNSVSQWVQLMILSKPTAPQRALVITHFVHVAEKLLQLQNF
NTLMAVVGGLSHSSISRLKETHSHVSPETIKLWEGLTELVTATGNYGNYRRRLAACVGFR
FPILGVHLKDLVALQLALPDWLDPARTRLNGAKMKQLFSILEELAMVTSLRPPVQANPDL
LSLLTVSLDQYQTEDELYQLSLQREPRSKSSPTSPTSCTPPPRPPVLEEWTSAAKPKLDQ
ALVVEHIEKMVESVFRNFDVDGDGHISQEEFQIIRGNFPYLSAFGDLDQNQDGCISREEM
VSYFLRSSSVLGGRMGFVHNFQESNSLRPVACRHCKALILGIYKQGLKCRACGVNCHKQC
KDRLSVECRRRAQSVSLEGSAPSPSPMHSHHHRAFSFSLPRPGRRGSRPPEIREEEVQTV
EDGVFDIHL
Sequence length 609
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Chemokine signaling pathway
Platelet activation
Pathways in cancer 		  Integrin signaling
Rap1 signalling
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Bleeding disorder Bleeding disorder due to CalDAG-GEFI deficiency rs121918444, rs398122372, rs398122373, rs773148506, rs1064797083, rs1064797085, rs1064797087, rs761749948
Platelet-type bleeding disorder BLEEDING DISORDER, PLATELET-TYPE, 18 rs1560045738, rs70961716, rs142186404, rs121918035, rs121918444, rs760074158, rs2146873791, rs387907345, rs387907346, rs387907348, rs387907350, rs397989794, rs587777211, rs587777529, rs724159972
View all (26 more)		 27235135, 18709451, 28726538, 28637664, 28762304, 17576779, 15334074, 24958846, 27417588, 27663674, 9789079
Show/Hide Text Mining Associations (18)
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 36817422
Anemia Associate 39512176
Blood Platelet Disorders Associate 27235135, 30849270, 39512176
Carcinoma Hepatocellular Associate 32148377
Colorectal Neoplasms Associate 32908876
Epistaxis Associate 30849270, 39512176
Genetic Diseases Inborn Associate 30849270, 39512176
Hemorrhage Associate 24958846, 30849270, 32609603
Hemorrhagic Disorders Associate 27235135
Immunologic Deficiency Syndromes Associate 27235135