Gene Gene information from NCBI Gene database.
Entrez ID 23180
Gene name Raftlin, lipid raft linker 1
Gene symbol RFTN1
Synonyms (NCBI Gene)
MIG2PIB10PIG9RAFTLIN
Chromosome 3
Chromosome location 3p24.3
miRNA miRNA information provided by mirtarbase database.
142
miRTarBase ID miRNA Experiments Reference
MIRT041930 hsa-miR-484 CLASH 23622248
MIRT1302060 hsa-miR-1179 CLIP-seq
MIRT1302061 hsa-miR-1246 CLIP-seq
MIRT1302062 hsa-miR-1253 CLIP-seq
MIRT1302063 hsa-miR-1290 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0001765 Process Membrane raft assembly IMP 12805216
GO:0002457 Process T cell antigen processing and presentation IEA
GO:0002457 Process T cell antigen processing and presentation ISS
GO:0003725 Function Double-stranded RNA binding IDA 21266579
GO:0005737 Component Cytoplasm IDA 21266579
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618210 30278 ENSG00000131378
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14699
Protein name Raftlin (Cell migration-inducing gene 2 protein) (Raft-linking protein)
Protein function Involved in protein trafficking via association with clathrin and AP2 complex (PubMed:21266579, PubMed:27022195). Upon bacterial lipopolysaccharide stimulation, mediates internalization of TLR4 to endosomes in dendritic cells and macrophages; an
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15250 Raftlin 1 471 Raftlin Family
Tissue specificity TISSUE SPECIFICITY: Expressed in B-cells (at protein level) (PubMed:12805216). Expressed in dendritic cells and macrophages (PubMed:21266579, PubMed:27022195). {ECO:0000269|PubMed:12805216, ECO:0000269|PubMed:21266579, ECO:0000269|PubMed:27022195}.
Sequence
Sequence length 578
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
FEMALE REPRODUCTIVE SYSTEM DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
THORACIC AORTIC ANEURYSM GWAS catalog
★★☆☆☆
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
Alzheimer Disease Alzheimer disease Pubtator 17387528 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23645746
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 32544548 Associate
★☆☆☆☆
Found in Text Mining only
Chronic Disease Chronic disease Pubtator 36139155 Associate
★☆☆☆☆
Found in Text Mining only
Fibroid Tumor Leiomyoma BEFREE 14745725
★☆☆☆☆
Found in Text Mining only
leiomyosarcoma Leiomyosarcoma BEFREE 14745725
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 39849531 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 23645746
★☆☆☆☆
Found in Text Mining only
Nasal Polyps Nasal polyp Pubtator 36139155 Stimulate
★☆☆☆☆
Found in Text Mining only
Uterine Fibroids Uterine Fibroids BEFREE 14745725
★☆☆☆☆
Found in Text Mining only