Gene Gene information from NCBI Gene database.
Entrez ID 115727
Gene name RAS guanyl releasing protein 4
Gene symbol RASGRP4
Synonyms (NCBI Gene)
-
Chromosome 19
Chromosome location 19q13.2
Summary The protein encoded by this gene is a member of the Ras guanyl nucleotide-releasing protein (RasGRP) family of Ras guanine nucleotide exchange factors. It contains a Ras exchange motif, a diacylglycerol-binding domain, and two calcium-binding EF hands. Th
miRNA miRNA information provided by mirtarbase database.
237
miRTarBase ID miRNA Experiments Reference
MIRT1292428 hsa-miR-1262 CLIP-seq
MIRT1292429 hsa-miR-1268 CLIP-seq
MIRT1292430 hsa-miR-1268b CLIP-seq
MIRT1292431 hsa-miR-1321 CLIP-seq
MIRT1292432 hsa-miR-1827 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0002717 Process Positive regulation of natural killer cell mediated immunity IEA
GO:0002717 Process Positive regulation of natural killer cell mediated immunity ISS
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 11880369
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607320 18958 ENSG00000171777
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TDF6
Protein name RAS guanyl-releasing protein 4
Protein function Functions as a cation- and diacylglycerol (DAG)-regulated nucleotide exchange factor activating Ras through the exchange of bound GDP for GTP (PubMed:11880369, PubMed:11956218, PubMed:12493770, PubMed:18024961). In neutrophils, participates in a
PDB 6AXG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00617 RasGEF 204 380 RasGEF domain Family
PF00130 C1_1 541 593 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed by mast cells and their progenitors (at protein level). Specifically expressed in mononuclear leukocytes. Highly expressed in myeloid cells compared to lymphoid cells. Also detected in heart, skeletal muscle, spleen, liver, p
Sequence
MNRKDSKRKSHQECTGKIGGRGRPRQVRRHKTCPSPREISKVMASMNLGLLSEGGCSEDE
LLEKCIQSFDSAGSLCHEDHMLNMVLAMHSWVLPSADLAARLLTSYQKATGDTQELRRLQ
ICHLVRYWLMRHPEVMHQDPQLEEVIGRFWATVAREGNSAQRRLGDSSDLLSPGGPGPPL
PMSSPGLGKKRKVSLLFDHLETGELAQHLTYLEFRSFQAITPQDLRSYVLQGSVRGCPAL
EGSVGLSNSVSRWVQVMVLSRPGPLQRAQVLDKFIHVAQRLHQLQNFNTLMAVTGGLCHS
AISRLKDSHAHLSPDSTKALLELTELLASHNNYARYRRTWAGCAGFRLPVLGVHLKDLVS
LHEAQPDRLPDGRLHLPKLN
NLYLRLQELVALQGQHPPCSANEDLLHLLTLSLDLFYTED
EIYELSYAREPRCPKSLPPSPFNAPLVVEWAPGVTPKPDRVTLGRHVEQLVESVFKNYDP
EGRGTISQEDFERLSGNFPFACHGLHPPPRQGRGSFSREELTGYLLRASAICSKLGLAFL
HTFHEVTFRKPTFCDSCSGFLWGVTKQGYRCRECGLCCHKHCRDQVKVECKKRPGAKGDA
GPPGAPVPSTPAPHASCGSEENHSYTLSLEPETGCQLRHAWTQTESPHPSWETDTVPCPV
MDPPSTASSKLDS
Sequence length 673
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
Ras signaling pathway
Pathways in cancer
  RAF/MAP kinase cascade
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASPERGER SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSORIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 31409422
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 21933395 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 11956218, 16364194
★☆☆☆☆
Found in Text Mining only
Asthma Asthma LHGDN 11956218
★☆☆☆☆
Found in Text Mining only
Diffuse Large B-Cell Lymphoma Diffuse Lymphoma BEFREE 31409422
★☆☆☆☆
Found in Text Mining only
Leukemia, Mast-Cell Leukemia LHGDN 11956218
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia BEFREE 11880369
★☆☆☆☆
Found in Text Mining only
Leukemia, T-Cell T-cell leukemia BEFREE 19350351
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 22116551
★☆☆☆☆
Found in Text Mining only
Mastocytosis Mastocytosis LHGDN 11956218
★☆☆☆☆
Found in Text Mining only