Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	221002
Gene name	RasGEF domain family member 1A
Gene symbol	RASGEF1A
Synonyms (NCBI Gene)	CG4853
Chromosome	10
Chromosome location	10q11.21

Show/Hide all (94)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017006	hsa-miR-335-5p	Microarray	18185580
MIRT534778	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT534777	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT534776	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT534775	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT534774	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT534773	hsa-miR-520e	PAR-CLIP	22012620
MIRT534772	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT534771	hsa-miR-520b	PAR-CLIP	22012620
MIRT534770	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT534769	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT534768	hsa-miR-302e	PAR-CLIP	22012620
MIRT534767	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT534766	hsa-miR-548ae-3p	PAR-CLIP	22012620
MIRT534765	hsa-miR-548ah-3p	PAR-CLIP	22012620
MIRT534764	hsa-miR-548aj-3p	PAR-CLIP	22012620
MIRT534763	hsa-miR-548am-3p	PAR-CLIP	22012620
MIRT534762	hsa-miR-548aq-3p	PAR-CLIP	22012620
MIRT534761	hsa-miR-548j-3p	PAR-CLIP	22012620
MIRT534760	hsa-miR-548x-3p	PAR-CLIP	22012620
MIRT534759	hsa-miR-5582-3p	PAR-CLIP	22012620
MIRT534758	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT534757	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT534756	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT534778	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT534777	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT534776	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT534775	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT534774	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT534773	hsa-miR-520e	PAR-CLIP	22012620
MIRT534772	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT534771	hsa-miR-520b	PAR-CLIP	22012620
MIRT534770	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT534769	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT534768	hsa-miR-302e	PAR-CLIP	22012620
MIRT534767	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT534766	hsa-miR-548ae-3p	PAR-CLIP	22012620
MIRT534765	hsa-miR-548ah-3p	PAR-CLIP	22012620
MIRT534764	hsa-miR-548aj-3p	PAR-CLIP	22012620
MIRT534763	hsa-miR-548am-3p	PAR-CLIP	22012620
MIRT534762	hsa-miR-548aq-3p	PAR-CLIP	22012620
MIRT534761	hsa-miR-548j-3p	PAR-CLIP	22012620
MIRT534760	hsa-miR-548x-3p	PAR-CLIP	22012620
MIRT534759	hsa-miR-5582-3p	PAR-CLIP	22012620
MIRT534758	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT534757	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT534756	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT1292170	hsa-miR-1200	CLIP-seq
MIRT1292171	hsa-miR-1207-5p	CLIP-seq
MIRT1292172	hsa-miR-142-5p	CLIP-seq
MIRT1292173	hsa-miR-3074-5p	CLIP-seq
MIRT1292174	hsa-miR-3153	CLIP-seq
MIRT1292175	hsa-miR-3155	CLIP-seq
MIRT1292176	hsa-miR-3155b	CLIP-seq
MIRT1292177	hsa-miR-3616-3p	CLIP-seq
MIRT1292178	hsa-miR-3652	CLIP-seq
MIRT1292179	hsa-miR-370	CLIP-seq
MIRT1292180	hsa-miR-4284	CLIP-seq
MIRT1292181	hsa-miR-4324	CLIP-seq
MIRT1292182	hsa-miR-4430	CLIP-seq
MIRT1292183	hsa-miR-4436b-3p	CLIP-seq
MIRT1292184	hsa-miR-4437	CLIP-seq
MIRT1292185	hsa-miR-4505	CLIP-seq
MIRT1292186	hsa-miR-4514	CLIP-seq
MIRT1292187	hsa-miR-4668-5p	CLIP-seq
MIRT1292188	hsa-miR-4690-3p	CLIP-seq
MIRT1292189	hsa-miR-4690-5p	CLIP-seq
MIRT1292190	hsa-miR-4692	CLIP-seq
MIRT1292191	hsa-miR-4721	CLIP-seq
MIRT1292192	hsa-miR-4763-3p	CLIP-seq
MIRT1292193	hsa-miR-484	CLIP-seq
MIRT1292194	hsa-miR-544b	CLIP-seq
MIRT1292195	hsa-miR-548a-5p	CLIP-seq
MIRT1292196	hsa-miR-548ab	CLIP-seq
MIRT1292197	hsa-miR-548ak	CLIP-seq
MIRT1292198	hsa-miR-548b-5p	CLIP-seq
MIRT1292199	hsa-miR-548c-5p	CLIP-seq
MIRT1292200	hsa-miR-548d-5p	CLIP-seq
MIRT1292201	hsa-miR-548h	CLIP-seq
MIRT1292202	hsa-miR-548i	CLIP-seq
MIRT1292203	hsa-miR-548j	CLIP-seq
MIRT1292204	hsa-miR-548k	CLIP-seq
MIRT1292205	hsa-miR-548l	CLIP-seq
MIRT1292206	hsa-miR-548w	CLIP-seq
MIRT1292207	hsa-miR-548y	CLIP-seq
MIRT1292208	hsa-miR-559	CLIP-seq
MIRT1292209	hsa-miR-562	CLIP-seq
MIRT1292210	hsa-miR-615-3p	CLIP-seq
MIRT1292211	hsa-miR-629	CLIP-seq
MIRT1292212	hsa-miR-647	CLIP-seq
MIRT1292213	hsa-miR-940	CLIP-seq
MIRT2311789	hsa-miR-1236	CLIP-seq
MIRT1292184	hsa-miR-4437	CLIP-seq
MIRT2311790	hsa-miR-665	CLIP-seq

Show/Hide all (9)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	17121879, 19645719
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0007265	Process	Ras protein signal transduction	IBA
GO:0016477	Process	Cell migration	IDA	17121879
GO:0046579	Process	Positive regulation of Ras protein signal transduction	IDA	17121879

MIM	HGNC	e!Ensembl
614531	24246	ENSG00000198915

Q8N9B8

Protein name

Ras-GEF domain-containing family member 1A

Protein function

Guanine nucleotide exchange factor (GEF) with specificity for RAP2A, KRAS, HRAS, and NRAS (in vitro). Plays a role in cell migration.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00618	RasGEF_N	44 → 149	RasGEF N-terminal motif	Domain
PF00617	RasGEF	217 → 411	RasGEF domain	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in brain and spinal cord. Highly expressed in a number of intrahepatic cholangiocarcinoma tissue biopsies. {ECO:0000269|PubMed:17121879}.

Sequence

MPQTSVVFSSILGPSCSGQVQPGMGERGGGAGGGSGDLIFQDGHLISGSLEALMEHLVPT
VDYYPDRTYIFTFLLSSRVFMPPHDLLARVGQICVEQKQQLEAGPEKAKLKSFSAKIVQL
LKEWTEAFPYDFQDEKAMAELKAITHRVTQCDEENGTVKKAIAQMTQSLLLSLAARSQLQ
ELREKLRPPAVDKGPILKTKPPAAQKDILGVCCDPLVLAQQLTHIELDRVSSIYPEDLMQ
IVSHMDSLDNHRCRGDLTKTYSLEAYDNWFNCLSMLVATEVCRVVKKKHRTRMLEFFIDV
ARECFNIGNFNSMMAIISGMNLSPVARLKKTWSKVKTAKFDVLEHHMDPSSNFCNYRTAL
QGATQRSQMANSSREKIVIPVFNLFVKDIYFLHKIHTNHLPNGHINFKKFWEISRQIHEF
MTWTQVECPFEKDKKIQSYLLTAPIYSEEALFVASFESEGPENHMEKDSWKTLRTTLLNR
A

Sequence length

481

Interactions

View interactions

	Reactome
			RAF/MAP kinase cascade

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)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	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.
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (8)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Neoplasms	Breast neoplasm	Pubtator	36404533	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36404533	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	36404533	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	26319027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	GWASDB_DG	19196962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	23270508, 25310821, 32948616, 36404533	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	25310821		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36404533	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

RASGEF1A (RasGEF domain family member 1A)