RFTN1 (raftlin, lipid raft linker 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 23180 |
| Gene name | Raftlin, lipid raft linker 1 |
| Gene symbol | RFTN1 |
| Synonyms (NCBI Gene) |
MIG2PIB10PIG9RAFTLIN
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| Chromosome | 3 |
| Chromosome location | 3p24.3 |
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miRNA
miRNA information provided by mirtarbase database.
142
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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
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| 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 | ||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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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)
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