Gene Gene information from NCBI Gene database.
Entrez ID 51195
Gene name Rap guanine nucleotide exchange factor like 1
Gene symbol RAPGEFL1
Synonyms (NCBI Gene)
Link-GEFII
Chromosome 17
Chromosome location 17q21.1
miRNA miRNA information provided by mirtarbase database.
681
miRTarBase ID miRNA Experiments Reference
MIRT051841 hsa-let-7c-5p CLASH 23622248
MIRT047947 hsa-miR-30c-5p CLASH 23622248
MIRT038353 hsa-miR-296-3p CLASH 23622248
MIRT607476 hsa-miR-4803 HITS-CLIP 23313552
MIRT607474 hsa-miR-4445-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
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 TAS
GO:0005886 Component Plasma membrane IBA
GO:0007186 Process G protein-coupled receptor signaling pathway TAS
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.
Q9UHV5
Protein name Rap guanine nucleotide exchange factor-like 1 (Link guanine nucleotide exchange factor II) (Link GEFII)
Protein function Probable guanine nucleotide exchange factor (GEF).
PDB 2DHZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00617 RasGEF 427 604 RasGEF domain Family
Sequence
MKPLEKFLKKQTSQLAGRTVAGGPGGGLGSCGGPGGGGGPGGGGGPAGGQRSLQRRQSVS
RLLLPAFLREPPAEPGLEPPVPEEGGEPAGVAEEPGSGGPCWLQLEEVPGPGPLGGGGPL
RSPSSYSSDELSPGEPLTSPPWAPLGAPERPEHLLNRVLERLAGGATRDSAASDILLDDI
VLTHSLFLPTEKFLQELHQYFVRAGGMEGPEGLGRKQACLAMLLHFLDTYQGLLQEEEGA
GHIIKDLYLLIMKDESLYQGLREDTLRLHQLVETVELKIPEENQPPSKQVKPLFRHFRRI
DSCLQTRVAFRGSDEIFCRVYMPDHSYVTIRSRLSASVQDILGSVTEKLQYSEEPAGRED
SLILVAVSSSGEKVLLQPTEDCVFTALGINSHLFACTRDSYEALVPLPEEIQVSPGDTEI
HRVEPEDVANHLTAFHWELFRCVHELEFVDYVFHGERGRRETANLELLLQRCSEVTHWVA
TEVLLCEAPGKRAQLLKKFIKIAALCKQNQDLLSFYAVVMGLDNAAVSRLRLTWEKLPGK
FKNLFRKFENLTDPCRNHKSYREVISKMKPPVIPFVPLILKDLTFLHEGSKTLVDGLVNI
EKLH
SVAEKVRTIRKYRSRPLCLDMEASPNHLQTKAYVRQFQVIDNQNLLFELSYKLEAN
SQ
Sequence length 662
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
CHRONIC BRONCHITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cold autoinflammatory syndrome 2 Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
OSTEOARTHRITIS, KNEE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma Uncertain significance ClinVar
★★☆☆☆
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
Esophageal Squamous Cell Carcinoma Esophageal squamous cell carcinoma Pubtator 24312652 Associate
★☆☆☆☆
Found in Text Mining only