RNF217
gene geneOn this page
Also known as MGC26996dJ84N20.1
Summary
RNF217 (ring finger protein 217, HGNC:21487) is a protein-coding gene on chromosome 6q22.31, encoding E3 ubiquitin-protein ligase RNF217 (Q8TC41). E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.
This protein encoded by this gene is a member of the RING1-IBR-RING24 (RBR) ubiquitin protein ligase family, and it belongs to a subfamily of these proteins that contain a transmembrane domain. This protein can interact with the HAX1 anti-apoptotic protein via its C-terminal RING finger motif, which suggests a role in apoptosis signaling. It is thought that deregulation of this gene can be a mechanism in leukemogenesis. Mutations in the region encoding the protein GXXXG motif, which appears to be necessary for protein self-association, have been found in human cancers. Alternative splicing of this gene results in multiple transcript variants.
Source: NCBI Gene 154214 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 33 total
- MANE Select transcript:
NM_001286398
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21487 |
| Approved symbol | RNF217 |
| Name | ring finger protein 217 |
| Location | 6q22.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC26996, dJ84N20.1 |
| Ensembl gene | ENSG00000146373 |
| Ensembl biotype | protein_coding |
| OMIM | 618592 |
| Entrez | 154214 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 5 protein_coding, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay, 1 retained_intron
ENST00000359704, ENST00000368414, ENST00000368415, ENST00000431104, ENST00000432158, ENST00000454842, ENST00000519565, ENST00000519799, ENST00000519971, ENST00000521654, ENST00000560949
RefSeq mRNA: 2 — MANE Select: NM_001286398
NM_001286398, NM_152553
CCDS: CCDS5129, CCDS69191
Canonical transcript exons
ENST00000521654 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002569703 | 124962437 | 124963426 |
| ENSE00003471744 | 125057942 | 125058106 |
| ENSE00003509438 | 125082864 | 125092633 |
| ENSE00003544547 | 125081436 | 125081507 |
| ENSE00003567148 | 125076657 | 125076858 |
| ENSE00003580490 | 125045211 | 125045444 |
Expression profiles
Bgee: expression breadth ubiquitous, 233 present calls, max score 92.06.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.1017 / max 416.8306, expressed in 1587 samples.
FANTOM5 promoters (18 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 69616 | 2.0509 | 1001 |
| 69618 | 1.4921 | 806 |
| 69622 | 1.3924 | 770 |
| 69623 | 1.2531 | 518 |
| 69620 | 0.6682 | 394 |
| 69617 | 0.6321 | 334 |
| 69624 | 0.3498 | 160 |
| 69619 | 0.3401 | 137 |
| 69625 | 0.1879 | 73 |
| 69626 | 0.1795 | 45 |
Top tissues by expression
243 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oviduct epithelium | UBERON:0004804 | 92.06 | gold quality |
| upper leg skin | UBERON:0004262 | 88.83 | gold quality |
| left ovary | UBERON:0002119 | 88.10 | gold quality |
| upper arm skin | UBERON:0004263 | 87.87 | gold quality |
| right ovary | UBERON:0002118 | 87.85 | gold quality |
| calcaneal tendon | UBERON:0003701 | 87.59 | gold quality |
| ascending aorta | UBERON:0001496 | 86.82 | gold quality |
| popliteal artery | UBERON:0002250 | 86.79 | gold quality |
| tibial artery | UBERON:0007610 | 86.78 | gold quality |
| aorta | UBERON:0000947 | 86.64 | gold quality |
| thoracic aorta | UBERON:0001515 | 86.56 | gold quality |
| skin of hip | UBERON:0001554 | 86.54 | gold quality |
| skin of abdomen | UBERON:0001416 | 86.47 | gold quality |
| colonic epithelium | UBERON:0000397 | 86.20 | gold quality |
| ovary | UBERON:0000992 | 86.16 | gold quality |
| right uterine tube | UBERON:0001302 | 86.12 | gold quality |
| sperm | CL:0000019 | 85.77 | gold quality |
| right lung | UBERON:0002167 | 85.70 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 85.58 | gold quality |
| fallopian tube | UBERON:0003889 | 85.39 | gold quality |
| omental fat pad | UBERON:0010414 | 85.33 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 85.33 | gold quality |
| peritoneum | UBERON:0002358 | 85.31 | gold quality |
| tibia | UBERON:0000979 | 85.29 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 85.03 | gold quality |
| left coronary artery | UBERON:0001626 | 84.95 | gold quality |
| cartilage tissue | UBERON:0002418 | 84.63 | gold quality |
| zone of skin | UBERON:0000014 | 84.56 | gold quality |
| tibialis anterior | UBERON:0001385 | 84.53 | gold quality |
| tibial nerve | UBERON:0001323 | 84.21 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.14 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
457 targeting RNF217, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-432-3P | 100.00 | 67.86 | 705 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
Literature-anchored findings (GeneRIF, showing 1)
- The high expression of RNF217 in certain human leukemias suggests that the deregulation of this gene could be a more common mechanism in leukemogenesis. (PMID:25298122)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rnf217 | ENSDARG00000060944 |
| mus_musculus | Rnf217 | ENSMUSG00000063760 |
| rattus_norvegicus | Rnf217 | ENSRNOG00000013323 |
| caenorhabditis_elegans | WBGENE00015926 | |
| caenorhabditis_elegans | WBGENE00021721 |
Paralogs (9): ANKIB1 (ENSG00000001629), RNF14 (ENSG00000013561), RNF19A (ENSG00000034677), RNF19B (ENSG00000116514), RNF144B (ENSG00000137393), RNF144A (ENSG00000151692), ARIH1 (ENSG00000166233), ARIH2 (ENSG00000177479), PRKN (ENSG00000185345)
Protein
Protein identifiers
E3 ubiquitin-protein ligase RNF217 — Q8TC41 (reviewed: Q8TC41)
Alternative names: IBR domain-containing protein 1, Opposite STL, RING finger protein 217
All UniProt accessions (5): Q8TC41, E5RFY6, H0YB95, H0YKH8, H3BM17
UniProt curated annotations — full annotation on UniProt →
Function. E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates the degradation of the iron exporter ferroportin/SLC40A1 and thus regulates iron homeostasis.
Subunit / interactions. Interacts with HAX1.
Subcellular location. Membrane. Cytoplasm.
Tissue specificity. Mainly expressed in testis and skeletal muscle.
Domain organisation. Members of the RBR family are atypical E3 ligases. They interact with the E2 conjugating enzyme UBE2L3 and function like HECT-type E3 enzymes: they bind E2s via the first RING domain, but require an obligate trans-thiolation step during the ubiquitin transfer, requiring a conserved cysteine residue in the second RING domain.
Pathway. Protein modification; protein ubiquitination.
Similarity. Belongs to the RBR family. RNF217 subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TC41-1 | 1 | yes |
| Q8TC41-2 | 2 |
RefSeq proteins (2): NP_001273327, NP_689766 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002867 | IBR_dom | Domain |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR031127 | E3_UB_ligase_RBR | Family |
| IPR044066 | TRIAD_supradom | Domain |
| IPR047550 | RNF217_RBR_vRING-HC | Domain |
| IPR047551 | BRcat_RBR_RNF217 | Domain |
| IPR047552 | Rcat_RBR_RNF217 | Domain |
Pfam: PF01485, PF22191
UniProt features (32 total): binding site 16, compositionally biased region 4, zinc finger region 3, region of interest 3, splice variant 2, chain 1, transmembrane region 1, active site 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TC41-F1 | 62.43 | 0.06 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 436
Ligand- & substrate-binding residues (16): 263; 266; 283; 286; 383; 386; 391; 396; 423; 426; 441; 444 …
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-983168 | Antigen processing: Ubiquitination & Proteasome degradation |
| R-HSA-1280218 | Adaptive Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-983169 | Class I MHC mediated antigen processing & presentation |
MSigDB gene sets: 197 (showing top):
REACTOME_ADAPTIVE_IMMUNE_SYSTEM, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_CATABOLIC_PROCESS, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, GOCC_TRANSFERASE_COMPLEX, GOBP_PROTEOLYSIS, GOMF_ACYLTRANSFERASE_ACTIVITY, chr6q22, GOCC_UBIQUITIN_LIGASE_COMPLEX, GOMF_AMINOACYLTRANSFERASE_ACTIVITY, GOMF_UBIQUITIN_LIKE_PROTEIN_CONJUGATING_ENZYME_BINDING
GO Biological Process (2): ubiquitin-dependent protein catabolic process (GO:0006511), protein ubiquitination (GO:0016567)
GO Molecular Function (6): ubiquitin-protein transferase activity (GO:0004842), zinc ion binding (GO:0008270), ubiquitin conjugating enzyme binding (GO:0031624), ubiquitin protein ligase activity (GO:0061630), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (4): ubiquitin ligase complex (GO:0000151), cytoplasm (GO:0005737), cytosol (GO:0005829), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Class I MHC mediated antigen processing & presentation | 1 |
| Immune System | 1 |
| Adaptive Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| protein ubiquitination | 1 |
| modification-dependent protein catabolic process | 1 |
| protein modification by small protein conjugation | 1 |
| ubiquitin-like protein transferase activity | 1 |
| transition metal ion binding | 1 |
| ubiquitin-like protein conjugating enzyme binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| intracellular protein-containing complex | 1 |
| transferase complex | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
584 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RNF217 | SLC35E3 | Q7Z769 | 486 |
| RNF217 | HAX1 | O00165 | 480 |
| RNF217 | TTC13 | Q8NBP0 | 461 |
| RNF217 | SLCO5A1 | Q9H2Y9 | 453 |
| RNF217 | RNF19B | Q6ZMZ0 | 418 |
| RNF217 | DCXR | Q7Z4W1 | 412 |
| RNF217 | RALB | P11234 | 392 |
| RNF217 | PCMTD1 | Q96MG8 | 386 |
| RNF217 | ABTB3 | A6QL63 | 384 |
| RNF217 | FBXO32 | Q969P5 | 380 |
| RNF217 | TRIML1 | Q8N9V2 | 367 |
| RNF217 | RNF19A | Q9NV58 | 362 |
| RNF217 | UBE2O | Q9C0C9 | 360 |
| RNF217 | MAP2K3 | P46734 | 355 |
| RNF217 | MYOCD | Q8IZQ8 | 354 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RNF217 | ACTA2 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (22): HAX1 (Two-hybrid), RNF217 (Reconstituted Complex), RNF217 (Affinity Capture-Western), POTEKP (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS), H1FNT (Affinity Capture-MS), ACTA2 (Affinity Capture-MS), POTEKP (Affinity Capture-MS), ACTA2 (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS), RNF217 (Two-hybrid), RNF217 (Affinity Capture-Western), SLC40A1 (Affinity Capture-Western), RNF217 (Affinity Capture-MS), RNF217 (Affinity Capture-MS)
ESM2 similar proteins: A0A494C0Z2, A0A494C191, A1L3C1, A2RRU4, A4Q9F3, A6NJR5, A6NLX3, A6NNV3, A6QM06, A6QNT4, D4A6L0, E1BBQ2, E9PGG2, O00255, O60320, O88559, P0DTA3, P0DUD1, P0DUD2, P0DUD3, P0DUD4, P0DUX0, P0DUX1, P0DV79, P29590, P40338, P56726, P97260, Q0P5I0, Q12770, Q14094, Q32L49, Q495Y7, Q5IBH6, Q5MJ68, Q5MNU5, Q5Q9Z2, Q5RDC3, Q5T848, Q69Z89
Diamond homologs: D3YYI7, F4KGU4, O95376, Q4KLT0, Q5UQ35, Q6GZQ2, Q8TC41, A1Z9L3, A2A4P0, A2VEA3, F4I9Q5, F4IE66, F4IJV4, F4ILR7, F4IM84, F4JMJ3, F4JRJ6, F4K2E9, O01965, O17438, O22243, O22899, O35286, O42643, O42945, O43143, O45244, O60231, O76924, O94536, P0CE10, P15938, P20095, P24384, P34498, P36009, P37024, P43329, P45018, P53131
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| Ub:E2 | “up-regulates activity” | RNF217 | ubiquitination |
Disease & clinical
Clinical variants and AI predictions
ClinVar
33 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 27 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2987 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:124964851:G:T | donor_gain | 1.0000 |
| 6:124996654:GT:G | donor_gain | 1.0000 |
| 6:125045202:A:AG | acceptor_gain | 1.0000 |
| 6:125045206:TGCA:T | acceptor_loss | 1.0000 |
| 6:125045207:GCAG:G | acceptor_loss | 1.0000 |
| 6:125045208:CAGG:C | acceptor_loss | 1.0000 |
| 6:125045209:AGG:A | acceptor_loss | 1.0000 |
| 6:125045210:G:A | acceptor_loss | 1.0000 |
| 6:125057937:CACA:C | acceptor_loss | 1.0000 |
| 6:125057939:C:G | acceptor_gain | 1.0000 |
| 6:125057939:CA:C | acceptor_loss | 1.0000 |
| 6:125057940:A:AG | acceptor_gain | 1.0000 |
| 6:125057940:AG:A | acceptor_loss | 1.0000 |
| 6:125057941:G:GG | acceptor_gain | 1.0000 |
| 6:125057941:G:T | acceptor_loss | 1.0000 |
| 6:125081165:G:GG | donor_gain | 1.0000 |
| 6:124963423:CCAGG:C | donor_loss | 0.9900 |
| 6:124963424:CAGG:C | donor_loss | 0.9900 |
| 6:124963425:AGGT:A | donor_loss | 0.9900 |
| 6:124963426:GG:G | donor_loss | 0.9900 |
| 6:124963427:G:GC | donor_loss | 0.9900 |
| 6:124963428:T:G | donor_loss | 0.9900 |
| 6:125004344:T:G | donor_gain | 0.9900 |
| 6:125045190:A:AG | acceptor_gain | 0.9900 |
| 6:125045190:ATCT:A | acceptor_gain | 0.9900 |
| 6:125045191:T:G | acceptor_gain | 0.9900 |
| 6:125045193:T:TA | acceptor_gain | 0.9900 |
| 6:125045202:ATCAT:A | acceptor_gain | 0.9900 |
| 6:125045203:T:G | acceptor_gain | 0.9900 |
| 6:125045315:GTA:G | donor_gain | 0.9900 |
AlphaMissense
3499 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:124963331:T:C | C263R | 1.000 |
| 6:124963333:C:G | C263W | 1.000 |
| 6:124963400:T:C | C286R | 1.000 |
| 6:125045238:T:A | C304S | 1.000 |
| 6:125045238:T:C | C304R | 1.000 |
| 6:125045239:G:C | C304S | 1.000 |
| 6:125045364:T:A | C346S | 1.000 |
| 6:125045364:T:C | C346R | 1.000 |
| 6:125045365:G:A | C346Y | 1.000 |
| 6:125045365:G:C | C346S | 1.000 |
| 6:125045366:T:G | C346W | 1.000 |
| 6:125045373:T:C | C349R | 1.000 |
| 6:125057948:T:C | C375R | 1.000 |
| 6:125057957:T:C | C378R | 1.000 |
| 6:125057969:T:A | W382R | 1.000 |
| 6:125057969:T:C | W382R | 1.000 |
| 6:125057971:G:C | W382C | 1.000 |
| 6:125057971:G:T | W382C | 1.000 |
| 6:125057972:T:A | C383S | 1.000 |
| 6:125057972:T:C | C383R | 1.000 |
| 6:125057973:G:C | C383S | 1.000 |
| 6:125057974:T:G | C383W | 1.000 |
| 6:125057981:T:A | C386S | 1.000 |
| 6:125057981:T:C | C386R | 1.000 |
| 6:125057982:G:C | C386S | 1.000 |
| 6:125057993:T:A | W390R | 1.000 |
| 6:125057993:T:C | W390R | 1.000 |
| 6:125057996:C:G | H391D | 1.000 |
| 6:125058011:T:A | C396S | 1.000 |
| 6:125058011:T:C | C396R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000022077 (6:124971361 A>C), RS1000114160 (6:125065021 A>G), RS1000116164 (6:125081105 A>G), RS1000124707 (6:125012101 G>A,T), RS1000153291 (6:125014016 T>C), RS1000175039 (6:124988237 A>G,T), RS1000179669 (6:125036189 T>G), RS1000204787 (6:124988561 A>G), RS1000227340 (6:124996251 T>A), RS1000250002 (6:125018507 C>T), RS1000289984 (6:124983446 C>A,G), RS1000309926 (6:125024666 G>A), RS1000316364 (6:125039228 A>C,G,T), RS1000322019 (6:125062258 G>A), RS1000361672 (6:125032218 A>G)
Disease associations
OMIM: gene MIM:618592 | disease phenotypes: MIM:126200
GenCC curated gene-disease
Mondo (1): multiple sclerosis, susceptibility to (MONDO:0007462)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005790_71 | Rosacea symptom severity | 8.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009180 | rosacea severity measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 4 |
| bisphenol A | affects methylation, affects cotreatment, decreases expression | 2 |
| trichostatin A | increases expression | 2 |
| sodium arsenite | decreases expression, increases expression | 2 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| belinostat | increases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | increases expression, affects cotreatment | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, affects methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Tetrachlorodibenzodioxin | affects cotreatment, increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Asbestos, Crocidolite | decreases methylation | 1 |
| Okadaic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
33 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT06384976 | PHASE2 | ACTIVE_NOT_RECRUITING | KYSA-7: A Study of Anti-CD19 CAR T-Cell Therapy, in Subjects With Refractory Primary and Secondary Progressive Multiple Sclerosis |
| NCT06782724 | PHASE2 | RECRUITING | Psilocybin Therapy for Psychological Distress in Palliative Patients |
| NCT05102682 | PHASE1 | COMPLETED | Robotics for Mobility Rehabilitation in MS |
| NCT06999434 | PHASE1 | RECRUITING | Exploring the Utility of [18F]3F4AP for Demyelination Imaging |
| NCT00872053 | PHASE1/PHASE2 | COMPLETED | Effect of Robot-assisted Training on Foot Drop in Multiple Sclerosis |
| NCT06548620 | EARLY_PHASE1 | WITHDRAWN | A Study of RD06-04 in Patients With Active Autoimmune Diseases |
| NCT06775912 | EARLY_PHASE1 | RECRUITING | Clinical Study on Targeted CD19/BCMA CAR-T Therapy for Autoimmune Diseases |
| NCT01128075 | Not specified | COMPLETED | Treatment Adherence When Using RebiSmart™ in Relapsing Multiple Sclerosis Subjects |
| NCT01628276 | Not specified | COMPLETED | Brain Functional Connectivity Changes Following Cognitive Rehabilitation in Multiple Sclerosis: an fMRI Study |
| NCT02490943 | Not specified | COMPLETED | A Pilot Study of Warm and Cold Compress to Reduce Injection Site Erythema Due to Peginterferon-beta-1a in MS |
| NCT03155334 | Not specified | UNKNOWN | Understanding Evaluation of Patient Information Sheets by User Testing Method |
| NCT03316404 | Not specified | COMPLETED | Evaluating Multiple Sclerosis Patients ShOWing A GEnomic Signature of Therapy Response |
| NCT04095377 | Not specified | COMPLETED | Development of Automated Analysis to Electroencephelogram (EEG) Data in Patients Treated at the Sagol Hyperbaric Medicine and Research Center at the Years 2017-2019. |
| NCT04148313 | Not specified | WITHDRAWN | A Pilot Study to Explore the Role of Gut Flora in Multiple Sclerosis |
| NCT04379661 | Not specified | COMPLETED | SUNLIGHT Study: Online Support Groups for MS to Address COVID-19 |
| NCT04415372 | Not specified | ENROLLING_BY_INVITATION | Macromolecular Imaging of White and Gray Matter Pathology in Multiple Sclerosis |
| NCT04530955 | Not specified | UNKNOWN | Transitioning to a Valve-Gated Intrathecal Drug Delivery System (IDDS) |
| NCT04822623 | Not specified | UNKNOWN | Imaging Evaluation of Central Nervous Autoimmune Diseases |
| NCT05435404 | Not specified | COMPLETED | Qualitative Study Patient & Physician Experiences Botox COVID-19 |
| NCT05857280 | Not specified | UNKNOWN | EXOPULSE Mollii Suit, Motor Function & Multiple Sclerosis (EXOSEP 2) |
| NCT05865405 | Not specified | ACTIVE_NOT_RECRUITING | A Closed Loop, Doctor to Patient, Mobile Application for Depression in People With Multiple Sclerosis |
| NCT05912595 | Not specified | UNKNOWN | EXOPULSE Mollii Suit, Spasticity, Muscular Oxygenation & Multiple Sclerosis (ENNOX 2) |
| NCT05991297 | Not specified | COMPLETED | Effects of Deep Sensory Assisted Rehabilitation on Gait and Balance in Patients With Multiple Sclerosis |
| NCT06143930 | Not specified | UNKNOWN | Blood Flow Restriction Training in Multiple Sclerosis |
| NCT06199219 | Not specified | COMPLETED | Ex-Plissit Model Based Counseling on Sexual Function and Sexual Satisfaction |
| NCT06770959 | Not specified | NOT_YET_RECRUITING | Frequency of Gastrointestinal and Hepatic Manifestations Among Patients with Multiple Sclerosis, a Clinical Hospital Based Study |
| NCT06849882 | Not specified | RECRUITING | Dubousset Functional Test: an Investigation of Its Validity and Reliability in Individuals with Multiple Sclerosis |
| NCT07087873 | Not specified | RECRUITING | Assessment of Transcranial Alternating Current Stimulation’s Clinical Efficacy in Treating Cognitive Impairment of Idiopathic Inflammatory Demyelinating Diseases |
| NCT07202195 | Not specified | RECRUITING | At Home Use of Stimulation Suits for Managing MS Symptoms |
| NCT07222618 | Not specified | RECRUITING | Selfie Videos: A Novel, Patient-centered, Comprehensive Approach to Measuring Function in MS |
| NCT07235644 | Not specified | ACTIVE_NOT_RECRUITING | Comparison of Efficacy and Safety in Patients Switching From MabThera® to Rixathon® in Relapsing-Remitting Multiple Sclerosis |
| NCT07304960 | Not specified | NOT_YET_RECRUITING | Multiple Sclerosis Versus Neuromyelitis Optica Spectrum Disorder |
| NCT07521384 | Not specified | ENROLLING_BY_INVITATION | Real World Outcomes of Intranasal MuSE Exosomes and Stem Cells in Neurological Regenerative Therapy |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): multiple sclerosis, susceptibility to