Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	153020
Gene name	RasGEF domain family member 1B
Gene symbol	RASGEF1B
Synonyms (NCBI Gene)	GPIG4
Chromosome	4
Chromosome location	4q21.21

104 Show/Hide all (104)

miRTarBase ID	miRNA	Experiments	Reference
MIRT437661	hsa-miR-195-5p	MicroarrayqRT-PCR	22815788
MIRT616351	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT616350	hsa-miR-1248	HITS-CLIP	23824327
MIRT616349	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT616348	hsa-miR-1287-3p	HITS-CLIP	23824327
MIRT616347	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT616351	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT616350	hsa-miR-1248	HITS-CLIP	23824327
MIRT616349	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT616348	hsa-miR-1287-3p	HITS-CLIP	23824327
MIRT616347	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT616352	hsa-miR-6507-3p	HITS-CLIP	23824327
MIRT616351	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT616350	hsa-miR-1248	HITS-CLIP	23824327
MIRT616349	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT616348	hsa-miR-1287-3p	HITS-CLIP	23824327
MIRT616347	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT616351	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT616350	hsa-miR-1248	HITS-CLIP	23824327
MIRT616349	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT616348	hsa-miR-1287-3p	HITS-CLIP	23824327
MIRT616347	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT616351	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT616350	hsa-miR-1248	HITS-CLIP	23824327
MIRT616349	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT616348	hsa-miR-1287-3p	HITS-CLIP	23824327
MIRT616347	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT616352	hsa-miR-6507-3p	HITS-CLIP	23824327
MIRT616351	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT616350	hsa-miR-1248	HITS-CLIP	23824327
MIRT616349	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT616348	hsa-miR-1287-3p	HITS-CLIP	23824327
MIRT616347	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT1292214	hsa-miR-1182	CLIP-seq
MIRT1292215	hsa-miR-1205	CLIP-seq
MIRT1292216	hsa-miR-1286	CLIP-seq
MIRT1292217	hsa-miR-1290	CLIP-seq
MIRT1292218	hsa-miR-1303	CLIP-seq
MIRT1292219	hsa-miR-1321	CLIP-seq
MIRT1292220	hsa-miR-1323	CLIP-seq
MIRT1292221	hsa-miR-15a	CLIP-seq
MIRT1292222	hsa-miR-15b	CLIP-seq
MIRT1292223	hsa-miR-16	CLIP-seq
MIRT1292224	hsa-miR-1909	CLIP-seq
MIRT1292225	hsa-miR-193a-5p	CLIP-seq
MIRT1292226	hsa-miR-195	CLIP-seq
MIRT1292227	hsa-miR-214	CLIP-seq
MIRT1292228	hsa-miR-23a	CLIP-seq
MIRT1292229	hsa-miR-23b	CLIP-seq
MIRT1292230	hsa-miR-23c	CLIP-seq
MIRT1292231	hsa-miR-2467-3p	CLIP-seq
MIRT1292232	hsa-miR-3619-5p	CLIP-seq
MIRT1292233	hsa-miR-3659	CLIP-seq
MIRT1292234	hsa-miR-3678-3p	CLIP-seq
MIRT1292235	hsa-miR-3688-3p	CLIP-seq
MIRT1292236	hsa-miR-3936	CLIP-seq
MIRT1292237	hsa-miR-3944-5p	CLIP-seq
MIRT1292238	hsa-miR-424	CLIP-seq
MIRT1292239	hsa-miR-4255	CLIP-seq
MIRT1292240	hsa-miR-4261	CLIP-seq
MIRT1292241	hsa-miR-4266	CLIP-seq
MIRT1292242	hsa-miR-433	CLIP-seq
MIRT1292243	hsa-miR-4418	CLIP-seq
MIRT1292244	hsa-miR-4419a	CLIP-seq
MIRT1292245	hsa-miR-4510	CLIP-seq
MIRT1292246	hsa-miR-4514	CLIP-seq
MIRT1292247	hsa-miR-4658	CLIP-seq
MIRT1292248	hsa-miR-4690-5p	CLIP-seq
MIRT1292249	hsa-miR-4692	CLIP-seq
MIRT1292250	hsa-miR-4695-5p	CLIP-seq
MIRT1292251	hsa-miR-4717-3p	CLIP-seq
MIRT1292252	hsa-miR-4722-5p	CLIP-seq
MIRT1292253	hsa-miR-4739	CLIP-seq
MIRT1292254	hsa-miR-4756-5p	CLIP-seq
MIRT1292255	hsa-miR-4768-3p	CLIP-seq
MIRT1292256	hsa-miR-4779	CLIP-seq
MIRT1292257	hsa-miR-4802-3p	CLIP-seq
MIRT1292258	hsa-miR-497	CLIP-seq
MIRT1292259	hsa-miR-509-3-5p	CLIP-seq
MIRT1292260	hsa-miR-509-5p	CLIP-seq
MIRT1292261	hsa-miR-548o	CLIP-seq
MIRT1292262	hsa-miR-574-5p	CLIP-seq
MIRT1292263	hsa-miR-665	CLIP-seq
MIRT1292264	hsa-miR-761	CLIP-seq
MIRT1292265	hsa-miR-765	CLIP-seq
MIRT1292266	hsa-miR-940	CLIP-seq
MIRT1292215	hsa-miR-1205	CLIP-seq
MIRT1292216	hsa-miR-1286	CLIP-seq
MIRT1292221	hsa-miR-15a	CLIP-seq
MIRT1292222	hsa-miR-15b	CLIP-seq
MIRT1292223	hsa-miR-16	CLIP-seq
MIRT1292226	hsa-miR-195	CLIP-seq
MIRT1292227	hsa-miR-214	CLIP-seq
MIRT1292232	hsa-miR-3619-5p	CLIP-seq
MIRT1292238	hsa-miR-424	CLIP-seq
MIRT1292246	hsa-miR-4514	CLIP-seq
MIRT1292248	hsa-miR-4690-5p	CLIP-seq
MIRT1292249	hsa-miR-4692	CLIP-seq
MIRT1292252	hsa-miR-4722-5p	CLIP-seq
MIRT1292258	hsa-miR-497	CLIP-seq
MIRT1292264	hsa-miR-761	CLIP-seq
MIRT1292231	hsa-miR-2467-3p	CLIP-seq
MIRT1292234	hsa-miR-3678-3p	CLIP-seq
MIRT2457775	hsa-miR-764	CLIP-seq

Transcription factor	Regulation	Reference
E2F1	Activation	18396012

11 Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	19645719
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005770	Component	Late endosome	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0007265	Process	Ras protein signal transduction	IBA
GO:0030496	Component	Midbody	IEA

MIM	HGNC	e!Ensembl
614532	24881	ENSG00000138670

Q0VAM2

Protein name

Ras-GEF domain-containing family member 1B (GPI gamma-4)

Protein function

Guanine nucleotide exchange factor (GEF) with specificity for RAP2A, it doesn't seems to activate other Ras family proteins (in vitro).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00617	RasGEF	208 → 403	RasGEF domain	Family
PF00618	RasGEF_N	37 → 138	RasGEF N-terminal motif	Domain

Sequence

MPQTPPFSAMFDSSGYNRNLYQSAEDSCGGLYYHDNNLLSGSLEALIQHLVPNVDYYPDR
TYIFTFLLSSRLFMHPYELMAKVCHLCVEHQRLSDPDSDKNQMRKIAPKILQLLTEWTET
FPYDFRDERMMRNLKDLAHRIASGEEQTYRKNVQQMMQCLIRKLAALSQYEEVLAKISST
STDRLTVLKTKPQSIQRDIITVCNDPYTLAQQLTHIELERLNYIGPEEFVQAFVQKDPLD
NDKSCYSERKKTRNLEAYVEWFNRLSYLVATEICMPVKKKHRARMIEYFIDVARECFNIG
NFNSLMAIISGMNMSPVSRLKKTWAKVKTAKFDILEHQMDPSSNFYNYRTALRGAAQRSL
TAHSSREKIVIPFFSLLIKDIYFLNEGCANRLPNGHVNFEKFWELAKQVSEFMTWKQVEC
PFERDRKILQYLLTVPVFSEDALYLASYESEGPENHIEKDRWKSLRSSLLGRV

Sequence length

473

Interactions

View interactions

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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. Show/Hide Unknown Diseases (19)
ARTHRITIS, JUVENILE	—	CTD	19565504	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASPHYXIA NEONATORUM	—	GWAS catalog	34985809	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	29228715	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	29212778, 32469254, 33020668, 36474045	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	39046104	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	GWAS catalog	34985809	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	35841873	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	GWAS catalog	33830181	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	30804565	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	23377640, 30219690	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	33532862, 34594039, 38072966	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RASGEF1B-related disorder	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	30285260	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (8)
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	27604828	★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	CTD_human_DG	19565504	★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504	★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504	★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	27604828	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ACP3	3	["Juvenile arthritis","Juvenile idiopathic arthritis","Oligoarticular juvenile idiopathic arthritis"]	[]	3	["CTD (Juvenile arthritis)","Disgenet (Juvenile idiopathic arthritis)","Disgenet (Oligoarticular juvenile idiopathic arthritis)"]
ACRBP	3	["Juvenile arthritis","Juvenile idiopathic arthritis","Oligoarticular juvenile idiopathic arthritis"]	[]	3	["CTD (Juvenile arthritis)","Disgenet (Juvenile idiopathic arthritis)","Disgenet (Oligoarticular juvenile idiopathic arthritis)"]
ANKRD9	3	["Juvenile arthritis","Juvenile idiopathic arthritis","Oligoarticular juvenile idiopathic arthritis"]	[]	3	["CTD (Juvenile arthritis)","Disgenet (Juvenile idiopathic arthritis)","Disgenet (Oligoarticular juvenile idiopathic arthritis)"]
AVL9	3	["Juvenile arthritis","Juvenile idiopathic arthritis","Oligoarticular juvenile idiopathic arthritis"]	[]	3	["CTD (Juvenile arthritis)","Disgenet (Juvenile idiopathic arthritis)","Disgenet (Oligoarticular juvenile idiopathic arthritis)"]
B4GALT5	3	["Juvenile arthritis","Juvenile idiopathic arthritis","Oligoarticular juvenile idiopathic arthritis"]	[]	3	["CTD (Juvenile arthritis)","Disgenet (Juvenile idiopathic arthritis)","Disgenet (Oligoarticular juvenile idiopathic arthritis)"]

RASGEF1B (RasGEF domain family member 1B)

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