PDZD4
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Also known as KIAA1444LU1FLJ34125PDZRN4LLNX5
Summary
PDZD4 (PDZ domain containing 4, HGNC:21167) is a protein-coding gene on chromosome Xq28, encoding PDZ domain-containing protein 4 (Q76G19).
Predicted to be located in cell cortex.
Source: NCBI Gene 57595 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 114 total — 1 pathogenic
- Phenotypes (HPO): 2
- MANE Select transcript:
NM_001303512
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21167 |
| Approved symbol | PDZD4 |
| Name | PDZ domain containing 4 |
| Location | Xq28 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1444, LU1, FLJ34125, PDZRN4L, LNX5 |
| Ensembl gene | ENSG00000067840 |
| Ensembl biotype | protein_coding |
| OMIM | 300634 |
| Entrez | 57595 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 6 protein_coding, 5 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000164640, ENST00000393758, ENST00000468491, ENST00000475140, ENST00000480418, ENST00000480650, ENST00000483693, ENST00000484792, ENST00000544474, ENST00000933007, ENST00000933008, ENST00000933009
RefSeq mRNA: 6 — MANE Select: NM_001303512
NM_001303512, NM_001303513, NM_001303514, NM_001303515, NM_001303516, NM_032512
CCDS: CCDS14732, CCDS78517, CCDS78518
Canonical transcript exons
ENST00000393758 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001952046 | 153802166 | 153804900 |
| ENSE00003464827 | 153807279 | 153807369 |
| ENSE00003477577 | 153805505 | 153805606 |
| ENSE00003507047 | 153806742 | 153806840 |
| ENSE00003680668 | 153805097 | 153805207 |
| ENSE00003692386 | 153806071 | 153806133 |
| ENSE00003734314 | 153808342 | 153808595 |
| ENSE00003916725 | 153830239 | 153830544 |
Expression profiles
Bgee: expression breadth ubiquitous, 203 present calls, max score 99.46.
FANTOM5 (CAGE): breadth broad, TPM avg 8.9043 / max 373.9959, expressed in 662 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 200914 | 7.6114 | 648 |
| 200910 | 0.4991 | 106 |
| 200912 | 0.4439 | 228 |
| 200913 | 0.1490 | 76 |
| 200911 | 0.1054 | 52 |
| 200909 | 0.0589 | 33 |
| 200908 | 0.0366 | 22 |
Top tissues by expression
253 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 99.46 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 99.41 | gold quality |
| cerebellar cortex | UBERON:0002129 | 99.38 | gold quality |
| right frontal lobe | UBERON:0002810 | 99.25 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 98.96 | gold quality |
| cortical plate | UBERON:0005343 | 98.87 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 98.78 | gold quality |
| cerebellum | UBERON:0002037 | 98.77 | gold quality |
| prefrontal cortex | UBERON:0000451 | 98.74 | gold quality |
| amygdala | UBERON:0001876 | 98.49 | gold quality |
| nucleus accumbens | UBERON:0001882 | 98.27 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 98.20 | gold quality |
| frontal cortex | UBERON:0001870 | 97.94 | gold quality |
| caudate nucleus | UBERON:0001873 | 97.92 | gold quality |
| neocortex | UBERON:0001950 | 97.91 | gold quality |
| putamen | UBERON:0001874 | 97.85 | gold quality |
| embryo | UBERON:0000922 | 97.65 | gold quality |
| ganglionic eminence | UBERON:0004023 | 97.65 | gold quality |
| cerebral cortex | UBERON:0000956 | 97.15 | gold quality |
| hypothalamus | UBERON:0001898 | 96.86 | gold quality |
| forebrain | UBERON:0001890 | 96.66 | gold quality |
| brain | UBERON:0000955 | 96.54 | gold quality |
| granulocyte | CL:0000094 | 96.34 | gold quality |
| Ammon’s horn | UBERON:0001954 | 96.31 | gold quality |
| temporal lobe | UBERON:0001871 | 95.93 | gold quality |
| right uterine tube | UBERON:0001302 | 95.85 | gold quality |
| cerebellar vermis | UBERON:0004720 | 95.47 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 94.90 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 94.78 | gold quality |
| adenohypophysis | UBERON:0002196 | 94.67 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.55 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
32 targeting PDZD4, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-6798-5P | 100.00 | 65.77 | 699 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-6817-3P | 99.79 | 68.35 | 2126 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-3714 | 99.71 | 70.74 | 2671 |
| HSA-MIR-3618 | 99.69 | 68.57 | 1012 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-497-3P | 99.61 | 69.71 | 1990 |
| HSA-MIR-5695 | 99.41 | 67.48 | 1047 |
| HSA-MIR-185-5P | 99.35 | 68.60 | 2497 |
| HSA-MIR-4644 | 99.35 | 69.12 | 2514 |
| HSA-MIR-4667-3P | 99.26 | 65.45 | 1608 |
| HSA-MIR-361-3P | 99.19 | 66.45 | 1381 |
| HSA-MIR-544B | 99.18 | 67.41 | 1632 |
| HSA-MIR-6734-3P | 99.15 | 66.27 | 1627 |
| HSA-MIR-6809-5P | 99.13 | 68.45 | 1223 |
| HSA-MIR-6749-3P | 99.00 | 65.73 | 1443 |
| HSA-MIR-6728-3P | 98.63 | 67.63 | 1534 |
| HSA-MIR-31-5P | 98.58 | 68.35 | 1239 |
| HSA-MIR-5088-3P | 98.29 | 66.63 | 1310 |
| HSA-MIR-1470 | 98.11 | 63.53 | 399 |
| HSA-MIR-615-5P | 98.10 | 63.76 | 591 |
| HSA-MIR-5681A | 97.99 | 67.17 | 1658 |
| HSA-MIR-526B-5P | 97.41 | 67.99 | 1074 |
| HSA-MIR-4288 | 97.11 | 67.23 | 1636 |
| HSA-MIR-602 | 97.09 | 61.68 | 156 |
| HSA-MIR-5192 | 96.89 | 63.35 | 879 |
| HSA-MIR-339-5P | 96.73 | 66.01 | 820 |
Literature-anchored findings (GeneRIF, showing 2)
- Might play an important role in the proliferation of SS cells and might be a suitable target for SS drugs. (PMID:15077175)
- PDZRN4L showed 49.9% total-amino-acid identity with PDZRN4 short isoform (PDZRN4S). PDZ, PR34H1 and PR34H2 domains were conserved between PDZRN4L and PDZRN4S. (PMID:15138636)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | PDZD4 | ENSDARG00000090564 |
| danio_rerio | PDZD4 | ENSDARG00000098823 |
| mus_musculus | Pdzd4 | ENSMUSG00000002006 |
| rattus_norvegicus | Pdzd4 | ENSRNOG00000056174 |
| drosophila_melanogaster | Slip1 | FBGN0024728 |
| caenorhabditis_elegans | WBGENE00016846 |
Paralogs (2): PDZRN3 (ENSG00000121440), PDZRN4 (ENSG00000165966)
Protein
Protein identifiers
PDZ domain-containing protein 4 — Q76G19 (reviewed: Q76G19)
Alternative names: PDZ domain-containing RING finger protein 4-like protein
All UniProt accessions (3): Q76G19, Q17RL8, V9GYN6
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Cytoplasm. Cell cortex.
Tissue specificity. Brain-specific. Expressed in fetal and adult brain. Up-regulated in synovial carcinomas.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q76G19-1 | 1 | yes |
| Q76G19-2 | 2 |
RefSeq proteins (6): NP_001290441, NP_001290442, NP_001290443, NP_001290444, NP_001290445, NP_115901 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001478 | PDZ | Domain |
| IPR036034 | PDZ_sf | Homologous_superfamily |
| IPR051971 | E3_ubiquitin-PDZ_ligase | Family |
Pfam: PF00595
UniProt features (15 total): compositionally biased region 5, modified residue 2, region of interest 2, chain 1, domain 1, splice variant 1, sequence variant 1, sequence conflict 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q76G19-F1 | 57.41 | 0.07 |
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 (2): 236, 454
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 53 (showing top):
EFC_Q6, AGCTCCT_MIR28, RAAGNYNNCTTY_UNKNOWN, AHR_Q5, RFX1_01, CHENG_IMPRINTED_BY_ESTRADIOL, chrXq28, MTF1_Q4, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, SREBP_Q3, GSE13522_CTRL_VS_T_CRUZI_BRAZIL_STRAIN_INF_SKIN_DN, MIR8485, MIR1283, MIR6809_5P, MIR31_5P
GO Biological Process (0):
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (2): cell cortex (GO:0005938), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 1 |
| cytoplasm | 1 |
| cell periphery | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
826 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PDZD4 | BCAM | P50895 | 749 |
| PDZD4 | CNTN6 | Q9UQ52 | 549 |
| PDZD4 | MCAM | P43121 | 548 |
| PDZD4 | LAMA5 | O15230 | 547 |
| PDZD4 | LIPN | Q5VXI9 | 528 |
| PDZD4 | FUT2 | Q10981 | 497 |
| PDZD4 | CFTR | P13569 | 455 |
| PDZD4 | LNX2 | Q8N448 | 447 |
| PDZD4 | HSFX1 | Q9UBD0 | 447 |
| PDZD4 | IDH3G | P51553 | 444 |
| PDZD4 | TGM1 | P22735 | 435 |
| PDZD4 | KEL | P23276 | 428 |
| PDZD4 | NHERF4 | Q86UT5 | 418 |
| PDZD4 | RASSF7 | Q02833 | 416 |
| PDZD4 | MARVELD1 | Q9BSK0 | 414 |
IntAct
31 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MAP2K2 | PDZD4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| KIR3DL3 | PDZD4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ABCC4 | PDZD4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ARHGEF16 | PDZD4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ASIC3 | PDZD4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PDZD4 | ATP2B4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CYSLTR2 | PDZD4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DGKK | PDZD4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DGKZ | PDZD4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DOCK4 | PDZD4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FRMPD4 | PDZD4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FZD7 | PDZD4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TAMALIN | PDZD4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PDZD4 | E6 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| E6 | PDZD4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ORF putative E6 | PDZD4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| KCNA5 | PDZD4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PBK | PDZD4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RALBP1 | PDZD4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RASSF6 | PDZD4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLC15A5 | PDZD4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLCO1C1 | PDZD4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TJP2 | PDZD4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PDZD4 | APIP | psi-mi:“MI:0915”(physical association) | 0.370 |
| Prdm16 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| Mecom | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| NDEL1 | PDZD4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| mutL | PDZD4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| GFI1B | PDZD4 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (22): PDZD4 (Two-hybrid), PDZD4 (Reconstituted Complex), CEP76 (Two-hybrid), KCTD9 (Two-hybrid), ENKD1 (Two-hybrid), TRAF2 (Two-hybrid), TRAF3 (Two-hybrid), MTUS2 (Two-hybrid), DNMT3L (Two-hybrid), CTDSP1 (Two-hybrid), IKZF3 (Two-hybrid), DYDC1 (Two-hybrid), ASCL4 (Two-hybrid), JRK (Two-hybrid), PDZD4 (Affinity Capture-MS)
ESM2 similar proteins: A0A0G2JUG7, A1L390, E9Q0S6, O08774, O14924, O15085, O43182, O54834, O54960, O60307, O75052, P57095, Q13009, Q3U1V8, Q3U214, Q3UHC7, Q4VAC9, Q5DU25, Q5JU85, Q5RBI7, Q5SXA9, Q5VWQ8, Q60610, Q64512, Q6AX33, Q6DN90, Q6NXJ0, Q6P0Q8, Q6P1I6, Q6ZMN7, Q76G19, Q76LL6, Q76M68, Q7T2V3, Q810W7, Q8CGE9, Q8IX03, Q8R0S2, Q8R4H2, Q8WYP3
Diamond homologs: A0A1L8FG46, A0A8C0TYJ0, D3YY23, E7FDW2, F1MAD2, G2Q0E2, O14907, O14910, O35274, O35867, O55164, O60106, O88951, O88952, P31007, P57105, P68907, Q00940, Q05568, Q09506, Q0P5E6, Q0P5F3, Q0V8R5, Q12959, Q13424, Q13425, Q13884, Q1L5Z9, Q22638, Q28626, Q2KHN1, Q2KIB6, Q2TBT8, Q32LM6, Q3T0C9, Q5F425, Q5FWL3, Q5PYH6, Q5R7T5, Q5RAA5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
114 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 79 |
| Likely benign | 8 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 564868 | GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 | Pathogenic |
SpliceAI
1559 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:153804896:CCGGG:C | acceptor_gain | 1.0000 |
| X:153804897:CGGG:C | acceptor_gain | 1.0000 |
| X:153804897:CGGGC:C | acceptor_gain | 1.0000 |
| X:153804898:GGG:G | acceptor_gain | 1.0000 |
| X:153804899:GG:G | acceptor_gain | 1.0000 |
| X:153804900:GCTA:G | acceptor_loss | 1.0000 |
| X:153804901:C:CC | acceptor_gain | 1.0000 |
| X:153804907:C:CT | acceptor_gain | 1.0000 |
| X:153804908:A:T | acceptor_gain | 1.0000 |
| X:153805092:CTCA:C | donor_loss | 1.0000 |
| X:153805093:TCA:T | donor_loss | 1.0000 |
| X:153805094:CACCT:C | donor_loss | 1.0000 |
| X:153805096:C:CG | donor_loss | 1.0000 |
| X:153805204:CCAG:C | acceptor_gain | 1.0000 |
| X:153805205:CAG:C | acceptor_gain | 1.0000 |
| X:153805205:CAGC:C | acceptor_gain | 1.0000 |
| X:153805208:C:CC | acceptor_gain | 1.0000 |
| X:153805500:CACA:C | donor_gain | 1.0000 |
| X:153805501:ACAC:A | donor_loss | 1.0000 |
| X:153805503:A:AC | donor_gain | 1.0000 |
| X:153805504:C:CC | donor_gain | 1.0000 |
| X:153805504:CCTGA:C | donor_gain | 1.0000 |
| X:153805551:T:TA | donor_gain | 1.0000 |
| X:153805602:TTAAT:T | acceptor_gain | 1.0000 |
| X:153805603:TAAT:T | acceptor_gain | 1.0000 |
| X:153805604:AAT:A | acceptor_gain | 1.0000 |
| X:153805605:AT:A | acceptor_gain | 1.0000 |
| X:153805607:C:CC | acceptor_gain | 1.0000 |
| X:153805613:C:CT | acceptor_gain | 1.0000 |
| X:153805614:A:T | acceptor_gain | 1.0000 |
AlphaMissense
5074 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:153803621:C:G | R681P | 1.000 |
| X:153803637:A:G | W676R | 1.000 |
| X:153803637:A:T | W676R | 1.000 |
| X:153803645:C:A | G673V | 1.000 |
| X:153803645:C:T | G673D | 1.000 |
| X:153803646:C:G | G673R | 1.000 |
| X:153803650:C:A | K671N | 1.000 |
| X:153803650:C:G | K671N | 1.000 |
| X:153803659:G:C | S668R | 1.000 |
| X:153803659:G:T | S668R | 1.000 |
| X:153803661:T:G | S668R | 1.000 |
| X:153803673:C:G | D664H | 1.000 |
| X:153803694:G:T | R657S | 1.000 |
| X:153803705:A:C | I653S | 1.000 |
| X:153803705:A:G | I653T | 1.000 |
| X:153803705:A:T | I653N | 1.000 |
| X:153803715:C:G | A650P | 1.000 |
| X:153803717:C:G | R649P | 1.000 |
| X:153803718:G:T | R649S | 1.000 |
| X:153803726:A:G | L646P | 1.000 |
| X:153803749:C:A | K638N | 1.000 |
| X:153803749:C:G | K638N | 1.000 |
| X:153803760:A:C | Y635D | 1.000 |
| X:153803760:A:G | Y635H | 1.000 |
| X:153803768:C:A | G632V | 1.000 |
| X:153803768:C:T | G632E | 1.000 |
| X:153803782:C:A | K627N | 1.000 |
| X:153803782:C:G | K627N | 1.000 |
| X:153803784:T:C | K627E | 1.000 |
| X:153803791:C:A | W624C | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000424478 (X:153806194 C>A,T), RS1000643431 (X:153814331 G>A), RS1000796004 (X:153832469 C>G,T), RS1000912027 (X:153832054 G>C), RS1001228823 (X:153822590 C>T), RS1001574116 (X:153826972 C>T), RS1001611843 (X:153802251 G>A), RS1001899833 (X:153818857 G>A), RS1002210109 (X:153803865 G>T), RS1002499614 (X:153820663 C>T), RS1002505147 (X:153804135 C>T), RS1002750563 (X:153821171 C>T), RS1002988887 (X:153808190 G>A), RS1003063808 (X:153807891 G>A,T), RS1003132992 (X:153825304 C>T)
Disease associations
OMIM: gene MIM:300634 | disease phenotypes: MIM:209850
GenCC curated gene-disease
Mondo (4): intellectual disability (MONDO:0001071), microcephaly (MONDO:0001149), movement disorder (MONDO:0005395), autism (MONDO:0005260)
Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
2 total (2 of 2 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000252 | Microcephaly |
| HP:0000717 | Autism |
GWAS associations
0 associations (top):
MeSH disease descriptors (4)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001321 | Autistic Disorder | F03.625.164.113.500 |
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
| D008831 | Microcephaly | C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500 |
| D009069 | Movement Disorders | C10.228.662 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
18 total (human), top 18 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression, affects splicing, decreases expression | 2 |
| Valproic Acid | affects expression, increases methylation | 2 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| pentanal | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Aldehydes | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
Clinical trials (associated diseases)
296 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT05657860 | PHASE4 | COMPLETED | Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome |
| NCT05744479 | PHASE4 | RECRUITING | Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability |
| NCT06107829 | PHASE4 | WITHDRAWN | Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities |
| NCT06997198 | PHASE4 | NOT_YET_RECRUITING | Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities |
| NCT01662414 | PHASE4 | COMPLETED | Effect of Undenatured Cysteine-Rich Whey Protein Isolate (HMS 90®) in Patients With Parkinson’s Disease |
| NCT04871464 | PHASE4 | UNKNOWN | Role and Mechanism of Probiotics in Improving Motor Symptoms in Mild to Moderate Parkinson’s Disease |
| NCT06710574 | PHASE4 | RECRUITING | Multimodal Image Technologies Investigate the Role and Mechanism of Probiotics in Improving RBD with Parkinson’s Disease |
| NCT02270736 | PHASE3 | COMPLETED | Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability |
| NCT01838278 | PHASE3 | UNKNOWN | Effectiveness of Vojta Therapy in Motor Development of Preterm Children |
| NCT02304302 | PHASE2 | COMPLETED | Down Syndrome Memantine Follow-up Study |
| NCT03862950 | PHASE2 | COMPLETED | A Trial of Metformin in Individuals With Fragile X Syndrome (Met) |
| NCT04529226 | PHASE2 | UNKNOWN | Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis |
| NCT04821856 | PHASE2 | COMPLETED | Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability |
| NCT00001929 | PHASE2 | COMPLETED | Treatment of Parkinson’s Disease With Eliprodil |
| NCT00331669 | PHASE2 | UNKNOWN | Efficacy and Safety of Deep Brain Stimulation (DBS) of the Pallidal (GPi) in Patients With Tardive Dystonia |
| NCT00406029 | PHASE2 | COMPLETED | Dyskinesia in Parkinson’s Disease (Study P04501) |
| NCT00537017 | PHASE2 | COMPLETED | Follow Up Safety Study of SCH 420814 in Subjects With Parkinson’s Disease (P05175) |
| NCT00693472 | PHASE2 | TERMINATED | Study of Preladenant for the Treatment of Neuroleptic Induced Akathisia (Study P05145) |
| NCT01385592 | PHASE2 | COMPLETED | Evaluation of the Efficacy and Safety of AFQ056 in Parkinson’s Patients With L-dopa Induced Dyskinesias |
| NCT01491529 | PHASE2 | COMPLETED | Evaluation of the Efficacy and Safety of Modified Release AFQ056 in Parkinson’s Patients With L-dopa Induced Dyskinesias |
| NCT01491932 | PHASE2 | COMPLETED | Open-label, Long-term Safety Extension Study of AFQ056 in Parkinson’s Patients With L-dopa Induced Dyskinesias |
| NCT02500628 | PHASE2 | COMPLETED | Heart Rate Variability in Response to Metformin Challenge |
| NCT04536987 | PHASE2 | COMPLETED | Robot Therapy for Rehabilitation of Hand Movement After Stroke |
| NCT04912115 | PHASE2 | SUSPENDED | Randomized, Double-Blind, Active Placebo-Controlled Study of Ketamine to Treat Levodopa-Induced Dyskinesia |
| NCT05636852 | PHASE2 | TERMINATED | Altropane Dose for Imaging Patients With Suspected Parkinson’s Disease |
| NCT05273320 | PHASE1 | COMPLETED | Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities |
| NCT05301361 | PHASE1 | ENROLLING_BY_INVITATION | Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities |
| NCT06016764 | PHASE1 | COMPLETED | Use of MRI and cTBS for Catatonia in Autism |
| NCT06586827 | PHASE1 | COMPLETED | Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD |
| NCT07531940 | PHASE1 | NOT_YET_RECRUITING | Escalating Doses of Memantine in Down Syndrome (MEDS-123) |
| NCT00001663 | PHASE1 | COMPLETED | Treatment of Cortical Myoclonus With Repetitive Transcranial Magnetic Stimulation |
| NCT02589340 | PHASE1 | TERMINATED | Buspirone, in Combination With Amantadine, for the Treatment of Levodopa-induced Dyskinesia |
| NCT03065192 | PHASE1 | COMPLETED | Safety and Efficacy Study of VY-AADC01 for Advanced Parkinson’s Disease |
| NCT07232147 | PHASE1 | NOT_YET_RECRUITING | Clinical Research on Stem Cell Therapy for Parkinson’s Disease |
| NCT03479476 | PHASE2/PHASE3 | COMPLETED | A Trial of Metformin in Individuals With Fragile X Syndrome |
| NCT02616796 | PHASE1/PHASE2 | COMPLETED | Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome |
| NCT06860672 | EARLY_PHASE1 | RECRUITING | Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation |
| NCT00597948 | Not specified | COMPLETED | Healthy Lifestyles for People With Intellectual Disabilities |
| NCT01087320 | Not specified | RECRUITING | Genome Medical Sequencing for Gene Discovery |
| NCT01652963 | Not specified | UNKNOWN | Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): movement disorder