ZNF606
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Also known as FLJ14260KIAA1852
Summary
ZNF606 (zinc finger protein 606, HGNC:25879) is a protein-coding gene on chromosome 19q13.43, encoding Zinc finger protein 606 (Q8WXB4). May act as a transcriptional repressor.
This gene encodes a zinc finger protein containing a Kruppel-associated box (KRAB) domain at its N-terminus, followed by contiguous C2H2 zinc finger motifs. The encoded protein is a nuclear protein that can act as a transcriptional repressor of growth factor-mediated signaling pathways in a reporter gene assay. This protein has been shown to interact with the SRY-box 9 gene product, and suppresses its transcriptional activity by inhibiting its DNA binding activity. Reduced expression of this gene promotes chondrocyte differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms.
Source: NCBI Gene 80095 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neuromyelitis optica (Limited, GenCC)
- Clinical variants (ClinVar): 107 total
- MANE Select transcript:
NM_001348022
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25879 |
| Approved symbol | ZNF606 |
| Name | zinc finger protein 606 |
| Location | 19q13.43 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ14260, KIAA1852 |
| Ensembl gene | ENSG00000166704 |
| Ensembl biotype | protein_coding |
| OMIM | 613905 |
| Entrez | 80095 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 7 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000341164, ENST00000546715, ENST00000547121, ENST00000547828, ENST00000550560, ENST00000550599, ENST00000551380, ENST00000552184, ENST00000552579, ENST00000873329
RefSeq mRNA: 5 — MANE Select: NM_001348022
NM_001348022, NM_001348023, NM_001348024, NM_001348025, NM_025027
CCDS: CCDS12968
Canonical transcript exons
ENST00000551380 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001371743 | 57977076 | 57980279 |
| ENSE00001383068 | 57999808 | 57999896 |
| ENSE00002332357 | 58002396 | 58002820 |
| ENSE00003493414 | 57988595 | 57988721 |
| ENSE00003507370 | 57988207 | 57988302 |
| ENSE00003630086 | 58001289 | 58001370 |
| ENSE00003666296 | 58000683 | 58000739 |
Expression profiles
Bgee: expression breadth ubiquitous, 241 present calls, max score 91.94.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.8119 / max 54.2742, expressed in 1590 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 182925 | 5.8119 | 1590 |
Top tissues by expression
271 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 91.94 | gold quality |
| right uterine tube | UBERON:0001302 | 88.77 | gold quality |
| bronchial epithelial cell | CL:0002328 | 88.02 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 87.44 | gold quality |
| ganglionic eminence | UBERON:0004023 | 87.15 | gold quality |
| cortical plate | UBERON:0005343 | 86.63 | gold quality |
| bronchus | UBERON:0002185 | 86.60 | gold quality |
| ventricular zone | UBERON:0003053 | 86.40 | gold quality |
| embryo | UBERON:0000922 | 84.91 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 83.88 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.77 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 82.91 | gold quality |
| thyroid gland | UBERON:0002046 | 82.65 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.49 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 81.63 | gold quality |
| calcaneal tendon | UBERON:0003701 | 81.55 | gold quality |
| left ovary | UBERON:0002119 | 81.54 | gold quality |
| oocyte | CL:0000023 | 81.41 | gold quality |
| sperm | CL:0000019 | 81.03 | gold quality |
| right ovary | UBERON:0002118 | 80.98 | gold quality |
| tibia | UBERON:0000979 | 80.96 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 80.90 | gold quality |
| ovary | UBERON:0000992 | 80.74 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 80.64 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 80.48 | gold quality |
| adenohypophysis | UBERON:0002196 | 80.36 | gold quality |
| pituitary gland | UBERON:0000007 | 80.32 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 80.29 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 80.07 | silver quality |
| male germ cell | CL:0000015 | 79.96 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.35 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
58 targeting ZNF606, 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-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-6499-3P | 99.90 | 66.38 | 1212 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-205-5P | 99.81 | 70.05 | 1557 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-4446-5P | 99.72 | 69.19 | 2544 |
| HSA-MIR-4755-5P | 99.71 | 70.34 | 2716 |
| HSA-MIR-5006-3P | 99.71 | 70.26 | 2728 |
| HSA-MIR-3059-5P | 99.70 | 69.93 | 2491 |
| HSA-MIR-651-5P | 99.64 | 68.49 | 1104 |
| HSA-MIR-1290 | 99.59 | 69.90 | 2079 |
| HSA-MIR-6758-3P | 99.57 | 67.55 | 1078 |
| HSA-MIR-4762-5P | 99.57 | 68.54 | 1424 |
| HSA-MIR-7849-3P | 99.47 | 68.17 | 1224 |
| HSA-MIR-508-5P | 99.41 | 64.25 | 1248 |
| HSA-MIR-3978 | 99.24 | 68.39 | 2201 |
| HSA-MIR-29A-5P | 99.08 | 68.59 | 1813 |
| HSA-MIR-628-3P | 99.04 | 68.37 | 814 |
Literature-anchored findings (GeneRIF, showing 3)
- results suggest that ZNF328 protein may act as a transcriptional repressor in mitogen-activated protein kinase (MAPK) signaling pathway to mediate cellular functions (PMID:15964554)
- ZNF606 prevents Sox9 binding to the enhancers of its target gene col2a1. Importantly, the interaction between ZNF606 and Sox9 was decreased during chondrocyte differentiation. (PMID:27634221)
- findings suggest that it is novel and specific for the association of ZNF606 gene expression from monocytes with the risk of CAD, especially in patients with multiple coronary artery stenosis (PMID:30130524)
Cross-species orthologs
1 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Zfp606 | ENSMUSG00000030386 |
Paralogs (176): ZNF195 (ENSG00000005801), ZNF112 (ENSG00000062370), ZNF275 (ENSG00000063587), ZNF37A (ENSG00000075407), ZNF510 (ENSG00000081386), ZNF506 (ENSG00000081665), ZNF268 (ENSG00000090612), MZF1 (ENSG00000099326), ZNF629 (ENSG00000102870), ZNF175 (ENSG00000105497), ZNF85 (ENSG00000105750), ZFP30 (ENSG00000120784), ZNF45 (ENSG00000124459), ZNF391 (ENSG00000124613), ZNF436 (ENSG00000125945), ZNF484 (ENSG00000127081), ZNF835 (ENSG00000127903), ZNF780B (ENSG00000128000), ZSCAN10 (ENSG00000130182), ZNF317 (ENSG00000130803), ZNF331 (ENSG00000130844), ZNF227 (ENSG00000131115), ZNF141 (ENSG00000131127), ZNF132 (ENSG00000131849), ZNF189 (ENSG00000136870), ZIM3 (ENSG00000141946), ZFP14 (ENSG00000142065), ZNF514 (ENSG00000144026), ZNF300 (ENSG00000145908), RBAK (ENSG00000146587), ZNF157 (ENSG00000147117), ZNF182 (ENSG00000147118), ZNF41 (ENSG00000147124), ZNF7 (ENSG00000147789), ZNF117 (ENSG00000152926), ZNF221 (ENSG00000159905), ZNF235 (ENSG00000159917), ZNF714 (ENSG00000160352), ZNF577 (ENSG00000161551), ZNF12 (ENSG00000164631)
Protein
Protein identifiers
Zinc finger protein 606 — Q8WXB4 (reviewed: Q8WXB4)
Alternative names: Zinc finger protein 328
All UniProt accessions (6): Q8WXB4, F8VVX5, F8VZC9, F8VZG6, F8W1C8, F8W1H2
UniProt curated annotations — full annotation on UniProt →
Function. May act as a transcriptional repressor.
Subcellular location. Nucleus.
Tissue specificity. Widely expressed in adult and fetal tissues.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
RefSeq proteins (5): NP_001334951, NP_001334952, NP_001334953, NP_001334954, NP_079303 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001909 | KRAB | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036051 | KRAB_dom_sf | Homologous_superfamily |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
Pfam: PF00096, PF01352
UniProt features (20 total): zinc finger region 16, chain 1, domain 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8WXB4-F1 | 59.56 | 0.04 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
MSigDB gene sets: 70 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GSE45365_NK_CELL_VS_CD8_TCELL_DN, GSE45365_NK_CELL_VS_CD11B_DC_UP, TCCAGAG_MIR518C, WALLACE_PROSTATE_CANCER_RACE_DN, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, STAMBOLSKY_RESPONSE_TO_VITAMIN_D3_UP, VERHAAK_GLIOBLASTOMA_CLASSICAL, ZNF711_TARGET_GENES, ZNF92_TARGET_GENES, MIR5582_3P, MIR4659A_3P_MIR4659B_3P, MIR4668_5P, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_2, MIR3924
GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (3): DNA binding (GO:0003677), zinc ion binding (GO:0008270), metal ion binding (GO:0046872)
GO Cellular Component (2): nucleus (GO:0005634), nucleoplasm (GO:0005654)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| RNA Polymerase II Transcription | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
564 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF606 | C5orf47 | Q569G3 | 479 |
| ZNF606 | FAM194C | Q8ND61 | 447 |
| ZNF606 | OR10S1 | Q8NGN2 | 447 |
| ZNF606 | KIAA1958 | Q8N8K9 | 424 |
| ZNF606 | RTL8A | Q9BWD3 | 374 |
| ZNF606 | PRMT2IP | Q6ZRI6 | 370 |
| ZNF606 | TMEM248 | Q9NWD8 | 350 |
| ZNF606 | C2CD4C | Q8TF44 | 323 |
| ZNF606 | TTC38 | Q5R3I4 | 317 |
| ZNF606 | SUGP2 | Q8IX01 | 300 |
| ZNF606 | RNF157 | Q96PX1 | 298 |
| ZNF606 | DISP3 | Q9P2K9 | 290 |
| ZNF606 | CCDC85A | Q96PX6 | 290 |
| ZNF606 | TEX2 | Q8IWB9 | 289 |
| ZNF606 | TRIL | Q7L0X0 | 289 |
IntAct
6 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZNF606 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| EPHA1 | ZNF606 | psi-mi:“MI:0915”(physical association) | 0.000 |
| APP | ZNF606 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RBM11 | ZNF606 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (10): ZNF606 (Affinity Capture-MS), ZNF606 (Affinity Capture-RNA), ZNF606 (Affinity Capture-MS), ZNF606 (Two-hybrid), ZNF606 (Two-hybrid), ZNF606 (Co-fractionation), ZNF606 (Co-fractionation), ZNF606 (Co-fractionation), ZNF606 (Co-fractionation), ZNF606 (Co-fractionation)
ESM2 similar proteins: A0A087WUV0, A0JNB1, A2VDP4, B2RUI1, P0CG31, P10072, P17025, P17036, P17097, P18733, P51814, Q08ER8, Q09FC8, Q0VGE8, Q14590, Q15937, Q16600, Q2M3X9, Q4V8A8, Q5CZA5, Q5R8G9, Q5RBX0, Q5VIY5, Q68DI1, Q6J6I6, Q6NX49, Q6P1L6, Q6PG37, Q6ZMS4, Q6ZMW2, Q80YP6, Q86UD4, Q86Y25, Q8IZ26, Q8N184, Q8NB42, Q8NEK5, Q8TAF7, Q8TF47, Q8WXB4
Diamond homologs: A0A1W2PQL4, A0JNB1, A0JPL0, A6NK53, A6QLU5, A6QPT6, A7MBI1, A8MT65, A8MUV8, A8MWA4, B2RXC5, B4DU55, B4DX44, E9PYI1, O14628, O75346, P0CH99, P0CI00, P17014, P17030, P17032, P17098, P51786, P85977, Q02386, Q06730, Q06732, Q0VAW7, Q12901, Q13360, Q14586, Q14588, Q14590, Q16587, Q2M3X9, Q2VY69, Q32M78, Q3ZCX4, Q49AA0, Q4R6J4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
107 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 94 |
| Likely benign | 3 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
981 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:57980278:TT:T | acceptor_gain | 1.0000 |
| 19:57980280:C:CC | acceptor_gain | 1.0000 |
| 19:57988302:CC:C | acceptor_loss | 1.0000 |
| 19:57988302:CCTA:C | acceptor_gain | 1.0000 |
| 19:57988303:C:CA | acceptor_loss | 1.0000 |
| 19:57988305:A:C | acceptor_gain | 1.0000 |
| 19:57988308:CA:C | acceptor_gain | 1.0000 |
| 19:57988309:A:C | acceptor_gain | 1.0000 |
| 19:57988593:A:AC | donor_gain | 1.0000 |
| 19:57988593:AC:A | donor_gain | 1.0000 |
| 19:57988594:C:CC | donor_gain | 1.0000 |
| 19:57988594:CC:C | donor_gain | 1.0000 |
| 19:57988594:CCCA:C | donor_gain | 1.0000 |
| 19:57980275:CCATT:C | acceptor_gain | 0.9900 |
| 19:57980276:CATT:C | acceptor_gain | 0.9900 |
| 19:57980276:CATTC:C | acceptor_gain | 0.9900 |
| 19:57988201:CCTCA:C | donor_loss | 0.9900 |
| 19:57988202:CTCAC:C | donor_loss | 0.9900 |
| 19:57988203:TCA:T | donor_loss | 0.9900 |
| 19:57988205:ACC:A | donor_loss | 0.9900 |
| 19:57988206:CCTG:C | donor_loss | 0.9900 |
| 19:57988230:G:A | donor_gain | 0.9900 |
| 19:57988299:TTTC:T | acceptor_gain | 0.9900 |
| 19:57988300:TTC:T | acceptor_gain | 0.9900 |
| 19:57988301:TC:T | acceptor_gain | 0.9900 |
| 19:57988303:C:CC | acceptor_gain | 0.9900 |
| 19:57988305:A:AC | acceptor_gain | 0.9900 |
| 19:57988309:A:AC | acceptor_gain | 0.9900 |
| 19:57988589:CCT:C | donor_loss | 0.9900 |
| 19:57988591:TTA:T | donor_loss | 0.9900 |
AlphaMissense
3404 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:57979201:G:C | F493L | 1.000 |
| 19:57979201:G:T | F493L | 1.000 |
| 19:57979203:A:G | F493L | 1.000 |
| 19:57979184:A:G | L499P | 0.999 |
| 19:57979285:G:C | F465L | 0.999 |
| 19:57979285:G:T | F465L | 0.999 |
| 19:57979287:A:G | F465L | 0.999 |
| 19:57979162:A:C | H506Q | 0.998 |
| 19:57979162:A:T | H506Q | 0.998 |
| 19:57979174:A:C | H502Q | 0.998 |
| 19:57979174:A:T | H502Q | 0.998 |
| 19:57979176:G:C | H502D | 0.998 |
| 19:57979202:A:G | F493S | 0.998 |
| 19:57979203:A:T | F493I | 0.997 |
| 19:57979224:A:G | C486R | 0.997 |
| 19:57979168:C:A | R504S | 0.996 |
| 19:57979168:C:G | R504S | 0.996 |
| 19:57979172:T:G | Q503P | 0.996 |
| 19:57979268:A:G | L471P | 0.996 |
| 19:57979286:A:G | F465S | 0.996 |
| 19:57979337:C:G | R448P | 0.996 |
| 19:57979164:G:C | H506D | 0.995 |
| 19:57979176:G:T | H502N | 0.995 |
| 19:57979246:A:C | H478Q | 0.995 |
| 19:57979246:A:T | H478Q | 0.995 |
| 19:57979175:T:C | H502R | 0.994 |
| 19:57979203:A:C | F493V | 0.994 |
| 19:57979222:A:C | C486W | 0.994 |
| 19:57979230:A:C | Y484D | 0.994 |
| 19:57979260:G:C | H474D | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000007153 (19:57996328 CCT>C), RS1000313862 (19:58003253 C>T), RS1000491496 (19:57988389 C>G), RS1000492626 (19:57990531 C>T), RS1000705176 (19:57983154 T>C), RS1000728691 (19:57980924 T>A), RS1000774066 (19:57988718 G>C), RS1000812924 (19:57981249 G>A), RS1001003786 (19:57994455 T>C), RS1001074214 (19:57994258 C>T), RS1001075480 (19:58000321 A>T), RS1001076716 (19:57982845 C>T), RS1001164428 (19:57986082 T>A,C), RS1001254833 (19:58000802 C>A), RS1001266483 (19:58004719 C>T)
Disease associations
OMIM: gene MIM:613905 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neuromyelitis optica | Limited | Autosomal dominant |
Mondo (1): neuromyelitis optica (MONDO:0019100)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D009471 | Neuromyelitis Optica | C10.114.375.600.500; C10.114.375.800; C10.292.700.550.500; C10.314.350.600.500; C10.314.350.800; C11.640.576.695; C20.111.258.250.550.500; C20.111.258.250.775 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, decreases methylation | 4 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| geraniol | increases expression | 1 |
| arsenite | increases methylation | 1 |
| sodium arsenite | increases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| avobenzone | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| jinfukang | decreases expression | 1 |
| (+)-JQ1 compound | increases response to substance | 1 |
| Temozolomide | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cisplatin | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Nickel | decreases expression | 1 |
| Phthalic Acids | decreases methylation | 1 |
| Potassium Chloride | decreases expression, decreases response to substance | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Tetrachlorodibenzodioxin | affects expression | 1 |
| Dronabinol | decreases expression, decreases response to substance | 1 |
| Thiram | increases expression | 1 |
Clinical trials (associated diseases)
117 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00304291 | PHASE4 | COMPLETED | A Pilot Study of Mitoxantrone for the Treatment of Recurrent Neuromyelitis Optica (Devic’s Disease) |
| NCT02021825 | PHASE4 | UNKNOWN | Efficacy and Safety of Mitoxantrone in Patients With Refractory Neuromyelitis Optica and Spectrum Disorders |
| NCT02809079 | PHASE4 | UNKNOWN | Mycophenolate Mofetil Treatment With Neuromyelitis Optica Spectrum Disorders in Chinese Patients |
| NCT04256252 | PHASE4 | COMPLETED | Rituximab at Low dosE for neuromyelitiS optiCa spectrUm disordEr (RESCUE) |
| NCT05269667 | PHASE4 | TERMINATED | A Study In Neuromyelitis Optica Spectrum Disorder (NMOSD) With Satralizumab As An Intervention |
| NCT06180278 | PHASE4 | ACTIVE_NOT_RECRUITING | Long-term, Open-label, Safety Study of Inebilizumab in Neuromyelitis Optica Spectrum Disorder (NMOSD) |
| NCT06212245 | PHASE4 | UNKNOWN | A Clinical Research Study of Inebilizumab in Neuromyelitis Optica Spectrum Disorders |
| NCT01892345 | PHASE3 | TERMINATED | A Randomized Controlled Trial of Eculizumab in AQP4 Antibody-positive Participants With NMO (PREVENT Study) |
| NCT02003144 | PHASE3 | COMPLETED | An Open Label Extension Trial of Eculizumab in Relapsing NMO Patients |
| NCT02028884 | PHASE3 | COMPLETED | Efficacy and Safety Study of Satralizumab (SA237) as Add-on Therapy to Treat Participants With Neuromyelitis Optica (NMO) and NMO Spectrum Disorder (NMOSD) |
| NCT02073279 | PHASE3 | COMPLETED | Efficacy and Safety Study of Satralizumab (SA237) as Monotherapy to Treat Participants With Neuromyelitis Optica (NMO) and Neuromyelitis Optica Spectrum Disorder (NMOSD) |
| NCT02398994 | PHASE3 | TERMINATED | A Multicentre randomiSed Controlled TRial of IntraVEnous Immunoglobulin Versus Standard Therapy for Transverse Myelitis |
| NCT03330418 | PHASE3 | TERMINATED | A Phase III Study of TACI-antibody Fusion Protein Injection (RC18) in Subjects With Neuromyelitis Optica Spectrum Disorders |
| NCT04201262 | PHASE3 | COMPLETED | An Efficacy and Safety Study of Ravulizumab in Adult Participants With NMOSD |
| NCT04660539 | PHASE3 | COMPLETED | A Study to Evaluate the Safety and Efficacy of Satralizumab in Participants With Neuromyelitis Optica Spectrum Disorder (NMOSD) |
| NCT05199688 | PHASE3 | RECRUITING | A Study To Evaluate Pharmacokinetics, Efficacy, Safety, Tolerability, And Pharmacodynamics Of Satralizumab In Pediatric Patients With Aquaporin-4 Antibody Positive Neuromyelitis Optica Spectrum Disorder (NMOSD) |
| NCT05314010 | PHASE3 | ACTIVE_NOT_RECRUITING | A Study of MIL62 in Patients With Neuromyelitis Optica Spectrum Disorder (NMOSD) |
| NCT05730699 | PHASE3 | ACTIVE_NOT_RECRUITING | Efficacy and Safety of Divozilimab in Patients With Neuromyelitis Optica Spectrum Disorders (AQUARELLE) |
| NCT06724809 | PHASE3 | ACTIVE_NOT_RECRUITING | Efficacy, Safety, PK, PD, and ADA of Eculizumab in Chinese Adults With NMOSD |
| NCT07132398 | PHASE3 | NOT_YET_RECRUITING | Slow vs. Rapid Glucocorticoids Tapering With Inebilizumab in NMOSD |
| NCT07557420 | PHASE3 | NOT_YET_RECRUITING | Efficacy, Safety, Pharmacokinetics, Pharmacodynamics, and Immunogenicity Study of Ravulizumab in Chinese Adults With Neuromyelitis Optica Spectrum Disorder (NMOSD) |
| NCT00716066 | PHASE2 | ACTIVE_NOT_RECRUITING | Autologous Stem Cell Transplant for Neurologic Autoimmune Diseases |
| NCT01845584 | PHASE2 | COMPLETED | Phase II Clinical Trial of NPB-01 in Patients With Anti-aquaporin 4 Antibody Positive Neuromyelitis Optica Spectrum Disorder Not Provided Adequate Effect of Therapy to Steroids Plus Therapy. |
| NCT02166346 | PHASE2 | COMPLETED | Safety and Efficacy of Sustained Release Dalfampridine in Transverse Myelitis (Re-Launch) |
| NCT02249676 | PHASE2 | COMPLETED | Autologous Mesenchymal Stem Cells for the Treatment of Neuromyelitis Optica Spectrum Disorders |
| NCT02893111 | PHASE2 | COMPLETED | Efficacy and Safety of Bortezomib as add-on Treatment in Relapsing Neuromyelitis Optica Spectrum Disorder |
| NCT04064944 | PHASE2 | UNKNOWN | Comparison of the Efficacy and Safety of Immunoadsorption and Plasma Exchange for Acute Attack of Refractory Neuromyelitis Optica Spectrum Disorders |
| NCT04614454 | PHASE2 | COMPLETED | High Frequency Impulse Therapy for Neuropathic Pain in NMOSD |
| NCT04670770 | PHASE2 | COMPLETED | An Open Label Study of the Effects of SHR1459 in NMOSDs Patients |
| NCT05356858 | PHASE2 | TERMINATED | An Open Label Study of the Effects and Safety of Zanubrutinib in NMOSDs Adult Patients |
| NCT05549258 | PHASE2 | RECRUITING | Study of Inebilizumab in Pediatric Subjects With Neuromyelitis Optica Spectrum Disorder |
| NCT05551598 | PHASE2 | COMPLETED | Efficacy and Safety of Mitoxantrone Hydrochloride Liposome Injection in the Treatment of Neuromyelitis Optica Spectrum Disorder (NMOSD) |
| NCT06497374 | PHASE2 | NOT_YET_RECRUITING | FcRn Antagonists (Efgartigimod) for Acute NMOSD Attack |
| NCT06697535 | PHASE2 | RECRUITING | A Study to Evaluate the Efficacy and Safety of JYP0061 in Patients With Acute Neuromyelitis Spectrum Disease (NMOSD) |
| NCT00501748 | PHASE1 | COMPLETED | Safety and Tolerability of Rituximab in Neuromyelitis Optica |
| NCT01759602 | PHASE1 | COMPLETED | C1-esterase Inhibitor (Cinryze) for Acute Treatment of Neuromyelitis Optica Exacerbation |
| NCT01777412 | PHASE1 | COMPLETED | Efficacy of Bevacizumab (Avastin) in Treatment of Acute NMO Exacerbations |
| NCT02087813 | PHASE1 | WITHDRAWN | Pilot Study of alpha1-antitrypsin to Treat Neuromyelitis Optica Relapses |
| NCT02276963 | PHASE1 | COMPLETED | Ublituximab for Acute Neuromyelitis Optica (NMO) Relapses |
| NCT02283671 | PHASE1 | COMPLETED | Treatment of Multiple Sclerosis and Neuromyelitis Optica With Regulatory Dendritic Cell: Clinical Trial Phase 1 B |
Related Atlas pages
- Associated diseases: neuromyelitis optica
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): neuromyelitis optica