RASGRF2 (Ras protein specific guanine nucleotide releasing factor 2)

Gene

• Entrez ID: 5924
• Gene name: Ras protein specific guanine nucleotide releasing factor 2
• Gene symbol: RASGRF2
• Synonyms (NCBI Gene): GRF2, RAS-GRF2
• Chromosome: 5
• Chromosome location: 5q14.1
• Summary: RAS GTPases cycle between an inactive GDP-bound state and an active GTP-bound state. This gene encodes a calcium-regulated nucleotide exchange factor activating both RAS and RAS-related protein, RAC1, through the exchange of bound GDP for GTP, thereby, co

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1292310	hsa-miR-3120-5p	CLIP-seq
MIRT1292311	hsa-miR-370	CLIP-seq
MIRT1292312	hsa-miR-4731-3p	CLIP-seq
MIRT1292313	hsa-miR-4778-5p	CLIP-seq
MIRT1292314	hsa-miR-4801	CLIP-seq
MIRT1292310	hsa-miR-3120-5p	CLIP-seq
MIRT2432450	hsa-miR-3160-5p	CLIP-seq
MIRT1292311	hsa-miR-370	CLIP-seq
MIRT2432451	hsa-miR-587	CLIP-seq
MIRT1292310	hsa-miR-3120-5p	CLIP-seq
MIRT2432450	hsa-miR-3160-5p	CLIP-seq
MIRT1292311	hsa-miR-370	CLIP-seq
MIRT2432451	hsa-miR-587	CLIP-seq
MIRT1292310	hsa-miR-3120-5p	CLIP-seq
MIRT2432450	hsa-miR-3160-5p	CLIP-seq
MIRT1292311	hsa-miR-370	CLIP-seq
MIRT2432451	hsa-miR-587	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IMP	27856453
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005516	Function	Calmodulin binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0007265	Process	Ras protein signal transduction	IBA
GO:0016020	Component	Membrane	IEA
GO:0034976	Process	Response to endoplasmic reticulum stress	IEA
GO:0034976	Process	Response to endoplasmic reticulum stress	IMP	27856453
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099170	Process	Postsynaptic modulation of chemical synaptic transmission	IEA

Other IDs

• MIM: 606614
• HGNC: 9876
• e!Ensembl: ENSG00000113319

Protein

• UniProt ID: O14827
• Protein name: Ras-specific guanine nucleotide-releasing factor 2 (Ras-GRF2) (Ras guanine nucleotide exchange factor 2)
• Protein function: Functions as a calcium-regulated nucleotide exchange factor activating both Ras and RAC1 through the exchange of bound GDP for GTP. Preferentially activates HRAS in vivo compared to RRAS based on their different types of prenylation. Functions i
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00169	PH	23 → 133	PH domain	Domain
  PF00621	RhoGEF	247 → 427	RhoGEF domain	Domain
  PF00618	RasGEF_N	638 → 773	RasGEF N-terminal motif	Domain
  PF00617	RasGEF	1005 → 1183	RasGEF domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed with higher expression in brain, followed by heart, lung, pancreas and kidney. Detected in placenta. Expressed in brain and lung (at protein level). {ECO:0000269|PubMed:10373510, ECO:0000269|PubMed:11856323}.
• Sequence:

  MQKSVRYNEGHALYLAFLARKEGTKRGFLSKKTAEASRWHEKWFALYQNVLFYFEGEQSC
  RPAGMYLLEGCSCERTPAPPRAGAGQGGVRDALDKQYYFTVLFGHEGQKPLELRCEEEQD
  GKEWMEAIHQASYADILIEREVLMQKYIHLVQIVETEKIAANQLRHQLEDQDTEIERLKS
  EIIALNKTKERMRPYQSNQEDEDPDIKKIKKVQSFMRGWLCRRKWKTIVQDYICSPHAES
  MRKRNQIVFTMVEAESEYVHQLYILVNGFLRPLRMAASSKKPPISHDDVSSIFLNSETIM
  FLHEIFHQGLKARIANWPTLILADLFDILLPMLNIYQEFVRNHQYSLQVLANCKQNRDFD
  KLLKQYEANPACEGRMLETFLTYPMFQIPRYIITLHELLAHTPHEHVERKSLEFAKSKLE
  ELSRVMHDEVSDTENIRKNLAIERMIVEGCDILLDTSQTFIRQGSLIQVPSVERGKLSKV
  RLGSLSLKKEGERQCFLFTKHFLICTRSSGGKLHLLKTGGVLSLIDCTLIEEPDASDDDS
  KGSGQVFGHLDFKIVVEPPDAAAFTVVLLAPSRQEKAAWMSDISQCVDNIRCNGLMTIVF
  EENSKVTVPHMIKSDARLHKDDTDICFSKTLNSCKVPQIRYASVERLLERLTDLRFLSID
  FLNTFLHTYRIFTTAAVVLGKLSDIYKRPFTSIPVRSLELFFATSQNNRGEHLVDGKSPR
  LCRKFSSPPPLAVSRTSSPVRARKLSLTSPLNSKIGALDLTTSSSPTTTTQSPAASPPPH
  TGQIPLDLSRGLSSPEQSPGTVEENVDNPRVDLCNKLKRSIQKAVLESAPADRAGVESSP
  AADTTELSPCRSPSTPRHLRYRQPGGQTADNAHCSVSPASAFAIATAAAGHGSPPGFNNT
  ERTCDKEFIIRRTATNRVLNVLRHWVSKHAQDFELNNELKMNVLNLLEEVLRDPDLLPQE
  RKAAANILRALSQDDQDDIHLKLEDIIQMTDCMKAECFESLSAMELAEQITLLDHVIFRS
  IPYEEFLGQGWMKLDKNERTPYIMKTSQHFNDMSNLVASQIMNYADVSSRANAIEKWVAV
  ADICRCLHNYNGVLEITSALNRSAIYRLKKTWAKVSKQTKALMDKLQKTVSSEGRFKNLR
  ETLKNCNPPAVPYLGMYLTDLAFIEEGTPNFTEEGLVNFSKMRMISHIIREIRQFQQTSY
  RIDHQPKVAQYLLDKDLIIDEDTLYELSLKIEPRLPA

• Sequence length: 1237

Pathways

KEGG:

MAPK signaling pathway
Ras signaling pathway

Reactome:

NRAGE signals death through JNK
Rho GTPase cycle
G alpha (12/13) signalling events
RAF/MAP kinase cascade

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL MUCINOUS ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EATING DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	27992614		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	27992614	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	12606953		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	30552317		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36454866	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	12606953		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of lung	Lung carcinoma	BEFREE	16596198		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	12606953		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	28408707	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28408707		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	27992614		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30359168		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30359168		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	28408707		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28408707		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28408707		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	GWASDB_DG	22116812		★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	GWASCAT_DG	23568457		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	BEFREE	28408707		★☆☆☆☆ Found in Text Mining only
Lipomatosis, Multiple	Lipomatosis	BEFREE	28408707		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	27992614		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Alcoholic	Liver cirrhosis	Pubtator	27992614	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	BEFREE	27992614		★☆☆☆☆ Found in Text Mining only
Liver Diseases Alcoholic	Liver disease	Pubtator	27992614	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	16596198		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	30552317		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16596198		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30359168		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30359168		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	30719209		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	35689754	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28408707		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20011522, 30359168		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	16596198		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	16596198		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	28408707	Associate	★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	20011522		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30719209		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	12606953		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	GWASCAT_DG	30552317		★☆☆☆☆ Found in Text Mining only