Gene Gene information from NCBI Gene database.
Entrez ID 255426
Gene name RasGEF domain family member 1C
Gene symbol RASGEF1C
Synonyms (NCBI Gene)
-
Chromosome 5
Chromosome location 5q35.3
miRNA miRNA information provided by mirtarbase database.
61
miRTarBase ID miRNA Experiments Reference
MIRT018443 hsa-miR-335-5p Microarray 18185580
MIRT1292267 hsa-miR-1972 CLIP-seq
MIRT1292268 hsa-miR-214 CLIP-seq
MIRT1292269 hsa-miR-2467-3p CLIP-seq
MIRT1292270 hsa-miR-3158-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
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:0005886 Component Plasma membrane IBA
GO:0007264 Process Small GTPase-mediated signal transduction IEA
GO:0007265 Process Ras protein signal transduction IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N431
Protein name Ras-GEF domain-containing family member 1C
Protein function Guanine nucleotide exchange factor (GEF).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00618 RasGEF_N 37 138 RasGEF N-terminal motif Domain
PF00617 RasGEF 203 396 RasGEF domain Family
Sequence
Sequence length 466
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Alzheimer Disease Associate 34584172
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Heart Failure Associate 34572079
★☆☆☆☆
Found in Text Mining only
Neurocognitive Disorders Associate 34584172
★☆☆☆☆
Found in Text Mining only
Neuroinflammatory Diseases Associate 33069246
★☆☆☆☆
Found in Text Mining only