RFTN1
gene geneOn this page
Also known as MIG2KIAA0084FLJ23866Raftlin
Summary
RFTN1 (raftlin, lipid raft linker 1, HGNC:30278) is a protein-coding gene on chromosome 3p24.3, encoding Raftlin (Q14699). Involved in protein trafficking via association with clathrin and AP2 complex.
Enables double-stranded RNA binding activity. Involved in B cell receptor signaling pathway; membrane raft assembly; and positive regulation of growth rate. Acts upstream of or within dsRNA transport; response to exogenous dsRNA; and toll-like receptor 3 signaling pathway. Located in endosome; membrane raft; and plasma membrane. Part of protein-containing complex. Biomarker of glaucoma.
Source: NCBI Gene 23180 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 57 total
- Druggable target: yes
- MANE Select transcript:
NM_015150
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30278 |
| Approved symbol | RFTN1 |
| Name | raftlin, lipid raft linker 1 |
| Location | 3p24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MIG2, KIAA0084, FLJ23866, Raftlin |
| Ensembl gene | ENSG00000131378 |
| Ensembl biotype | protein_coding |
| OMIM | 618210 |
| Entrez | 23180 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 11 protein_coding, 4 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000334133, ENST00000431547, ENST00000432519, ENST00000441460, ENST00000449415, ENST00000451036, ENST00000453536, ENST00000470458, ENST00000483671, ENST00000484752, ENST00000495666, ENST00000607320, ENST00000856941, ENST00000856943, ENST00000856944, ENST00000856946, ENST00000856947
RefSeq mRNA: 1 — MANE Select: NM_015150
NM_015150
CCDS: CCDS33712
Canonical transcript exons
ENST00000334133 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000901388 | 16377718 | 16378102 |
| ENSE00000901391 | 16493725 | 16493877 |
| ENSE00000901392 | 16513442 | 16513699 |
| ENSE00001777050 | 16315845 | 16317232 |
| ENSE00003491818 | 16357932 | 16358047 |
| ENSE00003549196 | 16370076 | 16370279 |
| ENSE00003555641 | 16433851 | 16434037 |
| ENSE00003600304 | 16409375 | 16409483 |
| ENSE00003641354 | 16326773 | 16326876 |
| ENSE00003689062 | 16323376 | 16323457 |
Expression profiles
Bgee: expression breadth ubiquitous, 270 present calls, max score 97.83.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.6728 / max 394.7846, expressed in 1624 samples.
FANTOM5 promoters (11 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 41344 | 11.8620 | 1534 |
| 41345 | 5.7507 | 1233 |
| 41341 | 3.1134 | 786 |
| 41343 | 1.4203 | 811 |
| 41339 | 0.8695 | 421 |
| 41340 | 0.7527 | 262 |
| 41342 | 0.4625 | 243 |
| 41333 | 0.1941 | 104 |
| 41346 | 0.1213 | 58 |
| 41328 | 0.0942 | 43 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| decidua | UBERON:0002450 | 97.83 | gold quality |
| lymph node | UBERON:0000029 | 97.24 | gold quality |
| saphenous vein | UBERON:0007318 | 97.11 | gold quality |
| thymus | UBERON:0002370 | 96.15 | gold quality |
| lower lobe of lung | UBERON:0008949 | 96.13 | gold quality |
| superficial temporal artery | UBERON:0001614 | 95.56 | gold quality |
| vermiform appendix | UBERON:0001154 | 95.10 | gold quality |
| caecum | UBERON:0001153 | 95.07 | gold quality |
| pericardium | UBERON:0002407 | 95.06 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 94.98 | gold quality |
| thyroid gland | UBERON:0002046 | 94.95 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 94.92 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 94.82 | gold quality |
| adipose tissue | UBERON:0001013 | 94.78 | gold quality |
| apex of heart | UBERON:0002098 | 94.46 | gold quality |
| lung | UBERON:0002048 | 94.45 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 94.44 | gold quality |
| vena cava | UBERON:0004087 | 94.44 | gold quality |
| connective tissue | UBERON:0002384 | 94.41 | gold quality |
| ascending aorta | UBERON:0001496 | 94.36 | gold quality |
| thoracic aorta | UBERON:0001515 | 94.10 | gold quality |
| right lung | UBERON:0002167 | 93.93 | gold quality |
| sural nerve | UBERON:0015488 | 93.84 | gold quality |
| urethra | UBERON:0000057 | 93.64 | gold quality |
| tibial nerve | UBERON:0001323 | 93.59 | gold quality |
| skin of hip | UBERON:0001554 | 93.59 | gold quality |
| upper lobe of lung | UBERON:0008948 | 93.57 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 93.44 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 93.36 | gold quality |
| tonsil | UBERON:0002372 | 93.25 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-100618 | yes | 479.14 |
| E-CURD-119 | yes | 16.88 |
| E-ANND-3 | yes | 12.56 |
| E-MTAB-8498 | yes | 10.07 |
| E-MTAB-6075 | no | 1283.15 |
| E-MTAB-7381 | no | 980.85 |
| E-ENAD-17 | no | 60.25 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
59 targeting RFTN1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-544A | 99.84 | 68.66 | 1965 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-8084 | 99.73 | 69.57 | 1760 |
| HSA-MIR-6892-3P | 99.68 | 66.40 | 1178 |
| HSA-MIR-6715B-5P | 99.64 | 69.63 | 1420 |
| HSA-MIR-298 | 99.63 | 67.56 | 1916 |
| HSA-MIR-6757-3P | 99.63 | 66.88 | 1089 |
| HSA-MIR-4269 | 99.55 | 69.89 | 1373 |
| HSA-MIR-4643 | 99.49 | 67.63 | 1791 |
| HSA-MIR-6722-3P | 99.45 | 67.62 | 1919 |
| HSA-MIR-330-3P | 99.41 | 69.95 | 2521 |
| HSA-MIR-542-3P | 99.34 | 67.58 | 1270 |
Literature-anchored findings (GeneRIF, showing 11)
- These data suggest that Raftlin plays a pivotal role in the formation and/or maintenance of lipid rafts, therefore regulating B-cell antigen receptor-mediated signaling. (PMID:12805216)
- Raftlin cooperates with the uptake receptor to mediate cell entry of poly(I:C), which is critical for activation of TLR3. (PMID:21266579)
- combination of ATOH7 and RFTN1 SNPs increased risk to POAG, indicating their diversified effects in the complex genetics of glaucoma. (PMID:22222511)
- Mitogen-inducible Gene-2 expression is reduced in breast cancer. (PMID:23645746)
- this study shows that raftlin appears to modulate cargo selection as an accessary protein of clathrin-associated adaptor protein-2 in clathrin-mediated endocytosis of TLR3/4 ligands (PMID:27022195)
- Raftlin is recruited by neuropilin-1 to the activated VEGFR2 complex to control proangiogenic signaling. (PMID:32274611)
- RFTN1 facilitates gastric cancer progression by modulating AKT/p38 signaling pathways. (PMID:35490655)
- Expression of Major Lipid Raft Protein Raftlin in Chronic Rhinosinusitis with Nasal Polyps in Smoking and Non-Smoking Patients Correlated with Interleukin-17 and Tumor Necrosis Factor-alpha Levels. (PMID:36139155)
- Serum NOX1 and Raftlin as new potential biomarkers of Major Depressive Disorder: A study in treatment-naive first episode patients. (PMID:36341844)
- Raftlin and 8-iso-prostaglandin F2alpha levels and gene network analysis in patients with Modic changes. (PMID:37208489)
- Association between raftlin and presepsin levels with periodontal healthy and disease conditions. (PMID:38278125)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rftn1a | ENSDARG00000070831 |
| danio_rerio | ENSDARG00000098654 | |
| mus_musculus | Rftn1 | ENSMUSG00000039316 |
| rattus_norvegicus | Rftn1 | ENSRNOG00000011321 |
Paralogs (1): RFTN2 (ENSG00000162944)
Protein
Protein identifiers
Raftlin — Q14699 (reviewed: Q14699)
Alternative names: Cell migration-inducing gene 2 protein, Raft-linking protein
All UniProt accessions (7): C9JHG2, C9JRN3, C9JWQ9, Q14699, F8WAR1, G3XAJ6, U3KPZ2
UniProt curated annotations — full annotation on UniProt →
Function. Involved in protein trafficking via association with clathrin and AP2 complex. Upon bacterial lipopolysaccharide stimulation, mediates internalization of TLR4 to endosomes in dendritic cells and macrophages; and internalization of poly(I:C) to TLR3-positive endosomes in myeloid dendritic cells and epithelial cells; resulting in activation of TICAM1-mediated signaling and subsequent IFNB1 production. Involved in T-cell antigen receptor-mediated signaling by regulating tyrosine kinase LCK localization, T-cell dependent antibody production and cytokine secretion. May regulate B-cell antigen receptor-mediated signaling. May play a pivotal role in the formation and/or maintenance of lipid rafts.
Subunit / interactions. Interacts with TLR4; the interaction occurs in response to lipopolysaccharide stimulation. Interacts with CLTC; the interaction occurs in response to pathogens. Interacts with AP2A1 and AP2B1.
Subcellular location. Cell membrane. Cytoplasm. Membrane raft. Endosome. Early endosome.
Tissue specificity. Expressed in B-cells (at protein level). Expressed in dendritic cells and macrophages.
Similarity. Belongs to the raftlin family.
RefSeq proteins (1): NP_055965* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR028169 | Raftlin | Family |
Pfam: PF15250
UniProt features (24 total): compositionally biased region 6, modified residue 4, region of interest 3, sequence conflict 3, lipid moiety-binding region 2, sequence variant 2, mutagenesis site 2, initiator methionine 1, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q14699-F1 | 65.22 | 0.33 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (6): 183, 199, 220, 505, 2, 3
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 2 | loss of association with membranes. same effect; when associated with s-3. |
| 3 | partially affects association with membranes. loss of association with membranes; when associated with a-2. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 319 (showing top):
GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_MEMBRANE_BIOGENESIS, GOZGIT_ESR1_TARGETS_DN, GOBP_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_GROWTH, HSIAO_HOUSEKEEPING_GENES, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOBP_MEMBRANE_RAFT_ORGANIZATION, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, GOBP_LYMPHOCYTE_MEDIATED_IMMUNITY
GO Biological Process (11): membrane raft assembly (GO:0001765), T cell antigen processing and presentation (GO:0002457), protein transport into membrane raft (GO:0032596), positive regulation of interleukin-17 production (GO:0032740), dsRNA transport (GO:0033227), toll-like receptor 3 signaling pathway (GO:0034138), positive regulation of growth rate (GO:0040010), response to exogenous dsRNA (GO:0043330), T cell receptor signaling pathway (GO:0050852), B cell receptor signaling pathway (GO:0050853), protein localization to membrane raft (GO:1903044)
GO Molecular Function (1): double-stranded RNA binding (GO:0003725)
GO Cellular Component (8): cytoplasm (GO:0005737), endosome (GO:0005768), early endosome (GO:0005769), plasma membrane (GO:0005886), protein-containing complex (GO:0032991), membrane raft (GO:0045121), extracellular exosome (GO:0070062), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| antigen receptor-mediated signaling pathway | 2 |
| cellular anatomical structure | 2 |
| membrane raft organization | 1 |
| membrane assembly | 1 |
| T cell mediated immunity | 1 |
| antigen processing and presentation | 1 |
| protein transport within lipid bilayer | 1 |
| establishment of protein localization to membrane | 1 |
| protein localization to membrane raft | 1 |
| positive regulation of cytokine production | 1 |
| interleukin-17 production | 1 |
| regulation of interleukin-17 production | 1 |
| RNA transport | 1 |
| endolysosomal toll-like receptor signaling pathway | 1 |
| regulation of growth rate | 1 |
| positive regulation of growth | 1 |
| response to dsRNA | 1 |
| protein localization to membrane | 1 |
| RNA binding | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
| endosome | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular_component | 1 |
| membrane microdomain | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
530 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RFTN1 | OR4K17 | Q8NGC6 | 469 |
| RFTN1 | OXNAD1 | Q96HP4 | 451 |
| RFTN1 | DAZL | Q92904 | 417 |
| RFTN1 | CZIB | Q9NWV4 | 385 |
| RFTN1 | GALNT15 | Q8N3T1 | 378 |
| RFTN1 | USHBP1 | Q8N6Y0 | 376 |
| RFTN1 | ZCCHC7 | Q8N3Z6 | 373 |
| RFTN1 | DPH3 | Q96FX2 | 371 |
| RFTN1 | NDNF | Q8TB73 | 360 |
| RFTN1 | LAMA4 | Q16363 | 359 |
| RFTN1 | KIAA1191 | Q96A73 | 357 |
| RFTN1 | ATG2A | Q2TAZ0 | 349 |
| RFTN1 | GALNTL5 | Q7Z4T8 | 345 |
| RFTN1 | ROBO2 | Q9HCK4 | 314 |
| RFTN1 | RCCD1 | A6NED2 | 307 |
IntAct
53 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| UNC119 | UNC119B | psi-mi:“MI:0914”(association) | 0.640 |
| SLC17A5 | LGALS8 | psi-mi:“MI:0914”(association) | 0.640 |
| GJB7 | PALM3 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC25A41 | NUDT19 | psi-mi:“MI:0914”(association) | 0.530 |
| SYNGAP1 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| SYNGAP1 | SEC16A | psi-mi:“MI:0914”(association) | 0.530 |
| TGM5 | UBB | psi-mi:“MI:0914”(association) | 0.530 |
| UNC119 | PDE8A | psi-mi:“MI:0914”(association) | 0.530 |
| DOK4 | KDM1A | psi-mi:“MI:0914”(association) | 0.530 |
| GPIHBP1 | ADAM10 | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| SDC1 | ILVBL | psi-mi:“MI:0915”(physical association) | 0.400 |
| psi-mi:“MI:0914”(association) | 0.350 | ||
| VWA8 | psi-mi:“MI:0914”(association) | 0.350 | |
| ESYT2 | psi-mi:“MI:0914”(association) | 0.350 | |
| E5 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PGRMC1 | psi-mi:“MI:0914”(association) | 0.350 | |
| SNAP23 | psi-mi:“MI:0914”(association) | 0.350 | |
| HAX1 | psi-mi:“MI:0914”(association) | 0.350 | |
| BVLF1 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| KPNA4 | psi-mi:“MI:0914”(association) | 0.350 | |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (65): RFTN1 (Affinity Capture-MS), RFTN1 (Affinity Capture-MS), RFTN1 (Synthetic Growth Defect), RFTN1 (Synthetic Growth Defect), RFTN1 (Proximity Label-MS), RFTN1 (Affinity Capture-MS), RABGAP1L (Affinity Capture-MS), RFTN1 (Affinity Capture-MS), ATG2A (Affinity Capture-MS), RFTN1 (Affinity Capture-MS), RFTN1 (Affinity Capture-MS), RFTN1 (Affinity Capture-MS), RFTN1 (Affinity Capture-MS), RFTN1 (Proximity Label-MS), RFTN1 (Affinity Capture-MS)
ESM2 similar proteins: A0A0M3U1B0, A0A1L8EYB2, A0JMF7, A4D1B5, A4FUB0, D3IUT5, D3Z6S9, F1QB81, O60281, O70167, P53995, Q0VCQ7, Q13129, Q14699, Q2T9I9, Q3TCV3, Q3UJC8, Q402B2, Q4R9E9, Q5RA75, Q5RB52, Q5XI46, Q5XI56, Q5ZKI7, Q659A1, Q6AYM1, Q6DRL4, Q6INI0, Q6PUR7, Q7Z2Z1, Q8BQ33, Q8CCC3, Q8CDN1, Q8IXR9, Q8K1K4, Q8NB91, Q8ND61, Q90WN7, Q920I9, Q92674
Diamond homologs: Q14699, Q52LD8, Q5R458, Q6A0D4, Q7SZI5, Q8CHX7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
57 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 46 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2821 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:16317233:C:CC | acceptor_gain | 1.0000 |
| 3:16357925:CACT:C | donor_loss | 1.0000 |
| 3:16357926:ACTTA:A | donor_loss | 1.0000 |
| 3:16357927:CT:C | donor_loss | 1.0000 |
| 3:16357928:TTACT:T | donor_loss | 1.0000 |
| 3:16357929:T:TG | donor_loss | 1.0000 |
| 3:16357930:A:AC | donor_gain | 1.0000 |
| 3:16357930:A:T | donor_loss | 1.0000 |
| 3:16357930:ACTT:A | donor_gain | 1.0000 |
| 3:16357931:C:CG | donor_gain | 1.0000 |
| 3:16357931:CTT:C | donor_gain | 1.0000 |
| 3:16357931:CTTC:C | donor_gain | 1.0000 |
| 3:16357933:T:TA | donor_gain | 1.0000 |
| 3:16357970:AGC:A | donor_gain | 1.0000 |
| 3:16358045:AATC:A | acceptor_loss | 1.0000 |
| 3:16358046:ATCT:A | acceptor_loss | 1.0000 |
| 3:16358048:C:CC | acceptor_gain | 1.0000 |
| 3:16358048:C:CG | acceptor_loss | 1.0000 |
| 3:16370070:ACAT:A | donor_loss | 1.0000 |
| 3:16370071:CATA:C | donor_loss | 1.0000 |
| 3:16370072:ATAC:A | donor_loss | 1.0000 |
| 3:16370073:TACCA:T | donor_loss | 1.0000 |
| 3:16370074:A:AC | donor_gain | 1.0000 |
| 3:16370075:C:CC | donor_gain | 1.0000 |
| 3:16370075:C:CT | donor_loss | 1.0000 |
| 3:16370075:CCAT:C | donor_gain | 1.0000 |
| 3:16370075:CCATT:C | donor_gain | 1.0000 |
| 3:16370290:T:C | acceptor_gain | 1.0000 |
| 3:16370290:T:TC | acceptor_gain | 1.0000 |
| 3:16370292:G:C | acceptor_gain | 1.0000 |
AlphaMissense
3779 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:16326819:A:G | W402R | 1.000 |
| 3:16326819:A:T | W402R | 1.000 |
| 3:16323422:A:G | L429P | 0.999 |
| 3:16323428:A:T | V427D | 0.999 |
| 3:16326817:C:A | W402C | 0.999 |
| 3:16326817:C:G | W402C | 0.999 |
| 3:16357954:A:T | V375D | 0.999 |
| 3:16323415:T:A | R431S | 0.998 |
| 3:16323415:T:G | R431S | 0.998 |
| 3:16323416:C:G | R431T | 0.998 |
| 3:16326818:C:G | W402S | 0.998 |
| 3:16326833:A:G | L397P | 0.998 |
| 3:16357960:A:T | I373N | 0.998 |
| 3:16370154:A:G | W318R | 0.998 |
| 3:16370154:A:T | W318R | 0.998 |
| 3:16326821:C:A | G401V | 0.997 |
| 3:16326842:A:G | L394P | 0.997 |
| 3:16326845:A:G | L393P | 0.997 |
| 3:16493795:C:A | R25S | 0.997 |
| 3:16493795:C:G | R25S | 0.997 |
| 3:16323425:A:G | F428S | 0.996 |
| 3:16326821:C:T | G401D | 0.996 |
| 3:16326833:A:T | L397Q | 0.996 |
| 3:16357957:A:T | V374E | 0.996 |
| 3:16357960:A:C | I373S | 0.996 |
| 3:16493809:A:G | S21P | 0.996 |
| 3:16357964:C:G | A372P | 0.995 |
| 3:16493796:C:G | R25T | 0.995 |
| 3:16493802:A:G | L23S | 0.995 |
| 3:16493814:A:G | I19T | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000001162 (3:16511162 G>T), RS1000008174 (3:16474307 C>A), RS1000009079 (3:16513952 C>G,T), RS1000037621 (3:16504573 G>A), RS1000039465 (3:16348614 C>A,T), RS1000042990 (3:16339118 G>A), RS1000076333 (3:16468320 C>T), RS1000103320 (3:16405381 T>C), RS1000115835 (3:16338875 C>T), RS1000116478 (3:16480342 G>A,T), RS1000127596 (3:16487157 G>A), RS1000128389 (3:16445039 A>G), RS1000157161 (3:16428012 T>C), RS1000166798 (3:16477134 T>C), RS1000185404 (3:16432684 A>AG)
Disease associations
OMIM: gene MIM:618210 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000426_10 | Obesity (extreme) | 5.000000e-06 |
| GCST000655_1 | Optic nerve measurement (cup-to-disc ratio) | 6.000000e-07 |
| GCST000659_3 | Optic nerve measurement (cup area) | 2.000000e-07 |
| GCST002826_9 | Urate levels (BMI interaction) | 6.000000e-06 |
| GCST003542_179 | Night sleep phenotypes | 2.000000e-06 |
| GCST009189_4 | Lateral orbital frontal cortex volume | 4.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0004531 | urate measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066455 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.20 | Kd | 6329 | nM | CHEMBL5653589 |
| 5.20 | ED50 | 6329 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149223: Binding affinity to human RFTN1 incubated for 45 mins by Kinobead based pull down assay | kd | 6.3286 | uM |
CTD chemical–gene interactions
79 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, decreases expression, decreases methylation | 8 |
| bisphenol A | decreases expression, decreases methylation, increases expression | 3 |
| Tetrachlorodibenzodioxin | affects cotreatment, increases expression, affects binding, increases reaction, decreases expression | 3 |
| Tobacco Smoke Pollution | affects expression, decreases expression | 3 |
| Tretinoin | increases expression, decreases expression | 3 |
| sodium arsenite | increases expression, increases abundance | 2 |
| (+)-JQ1 compound | decreases expression | 2 |
| Arsenic | increases abundance, increases expression | 2 |
| Cisplatin | affects cotreatment, decreases expression | 2 |
| Estradiol | affects cotreatment, increases expression | 2 |
| Tamoxifen | affects expression, affects cotreatment, decreases expression | 2 |
| Aflatoxin B1 | decreases expression, decreases methylation | 2 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment | 2 |
| FR900359 | decreases phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| 2,4,6-tribromophenol | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| methyleugenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenate | increases abundance, increases expression | 1 |
| terbufos | increases methylation | 1 |
| trichostatin A | decreases expression, increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| tetrabromobisphenol A | increases expression | 1 |
| tobacco tar | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | decreases expression, affects cotreatment | 1 |
| cupric chloride | increases expression | 1 |
| hydroquinone | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652265 | Binding | Binding affinity to human RFTN1 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.