ZNF674
geneOn this page
Also known as ZNF673B
Summary
ZNF674 (zinc finger protein 674, HGNC:17625) is a protein-coding gene on chromosome Xp11.3, encoding Zinc finger protein 674 (Q2M3X9). May be involved in transcriptional regulation.
This gene encodes a zinc finger protein with an N-terminal Kruppel-associated box-containing (KRAB) domain and 11 Kruppel-type C2H2 zinc finger domains. Like other zinc finger proteins, this gene may function as a transcription factor. This gene resides on an area of chromosome X that has been implicated in nonsyndromic X-linked cognitive disabilities. Alternative splicing results in multiple transcript variants encoding different isoforms.
Source: NCBI Gene 641339 — RefSeq curated summary.
At a glance
- Gene–disease (curated): X-linked intellectual disability (Disputed, ClinGen) — +1 more curated relationship
- Clinical variants (ClinVar): 97 total — 1 pathogenic
- Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
- MANE Select transcript:
NM_001190417
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17625 |
| Approved symbol | ZNF674 |
| Name | zinc finger protein 674 |
| Location | Xp11.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZNF673B |
| Ensembl gene | ENSG00000251192 |
| Ensembl biotype | protein_coding |
| OMIM | 300573 |
| Entrez | 641339 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 5 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000414387, ENST00000453909, ENST00000518708, ENST00000518795, ENST00000521626, ENST00000522017, ENST00000523374, ENST00000683375, ENST00000878263
RefSeq mRNA: 3 — MANE Select: NM_001190417
NM_001039891, NM_001146291, NM_001190417
CCDS: CCDS48099, CCDS55406, CCDS94605
Canonical transcript exons
ENST00000683375 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002278937 | 46544501 | 46544611 |
| ENSE00003478176 | 46528783 | 46528909 |
| ENSE00003479639 | 46528350 | 46528445 |
| ENSE00003622372 | 46542073 | 46542116 |
| ENSE00003918413 | 46497725 | 46501335 |
| ENSE00003919673 | 46545371 | 46545421 |
Expression profiles
Bgee: expression breadth ubiquitous, 167 present calls, max score 80.92.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.4725 / max 100.7890, expressed in 1384 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 199062 | 2.8790 | 1337 |
| 199060 | 0.2364 | 81 |
| 199061 | 0.2139 | 65 |
| 199059 | 0.1433 | 54 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 80.92 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 79.60 | gold quality |
| cortical plate | UBERON:0005343 | 77.94 | gold quality |
| calcaneal tendon | UBERON:0003701 | 74.18 | gold quality |
| ganglionic eminence | UBERON:0004023 | 74.10 | gold quality |
| colonic epithelium | UBERON:0000397 | 73.78 | gold quality |
| ventricular zone | UBERON:0003053 | 73.70 | gold quality |
| stromal cell of endometrium | CL:0002255 | 73.21 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 72.02 | gold quality |
| adrenal tissue | UBERON:0018303 | 71.66 | gold quality |
| islet of Langerhans | UBERON:0000006 | 71.12 | gold quality |
| monocyte | CL:0000576 | 71.09 | gold quality |
| endometrium epithelium | UBERON:0004811 | 71.01 | gold quality |
| mononuclear cell | CL:0000842 | 70.90 | gold quality |
| leukocyte | CL:0000738 | 70.83 | gold quality |
| gall bladder | UBERON:0002110 | 70.17 | gold quality |
| gastrocnemius | UBERON:0001388 | 68.94 | gold quality |
| muscle of leg | UBERON:0001383 | 68.91 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 68.33 | gold quality |
| body of uterus | UBERON:0009853 | 67.67 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 67.63 | gold quality |
| left ovary | UBERON:0002119 | 67.63 | gold quality |
| right ovary | UBERON:0002118 | 67.61 | gold quality |
| right lobe of liver | UBERON:0001114 | 67.59 | gold quality |
| prefrontal cortex | UBERON:0000451 | 67.51 | gold quality |
| rectum | UBERON:0001052 | 67.50 | gold quality |
| left adrenal gland | UBERON:0001234 | 67.21 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 67.15 | gold quality |
| cerebellar cortex | UBERON:0002129 | 67.14 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 67.06 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.99 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
93 targeting ZNF674, 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-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
Functional genomics
ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 2)
- Identification of ZNF674 as the third X-linked mental retardation gene in this cluster may indicate a common role for these zinc-finger genes that is crucial to human cognitive functioning. (PMID:16385466)
- These findings question the responsibility of ZNF674 deletions in intellectual disability (ID) associated with X-linked retinal dystrophy. (PMID:22126752)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Zfp78 | ENSMUSG00000055150 |
| rattus_norvegicus | ENSRNOG00000083797 | |
| drosophila_melanogaster | CG2712 | FBGN0024975 |
| drosophila_melanogaster | Phs | FBGN0036522 |
| drosophila_melanogaster | CG3281 | FBGN0260741 |
Paralogs (62): ZNF582 (ENSG00000018869), ZNF264 (ENSG00000083844), ZNF343 (ENSG00000088876), ZNF684 (ENSG00000117010), ZNF133 (ENSG00000125846), ZNF557 (ENSG00000130544), ZNF337 (ENSG00000130684), ZNF20 (ENSG00000132010), ZFP37 (ENSG00000136866), ZNF614 (ENSG00000142556), KRBOX4 (ENSG00000147121), ZNF599 (ENSG00000153896), ZNF19 (ENSG00000157429), ZNF589 (ENSG00000164048), PRDM9 (ENSG00000164256), ZNF180 (ENSG00000167384), ZNF558 (ENSG00000167785), ZNF35 (ENSG00000169981), ZNF778 (ENSG00000170100), ZNF439 (ENSG00000171291), ZNF440 (ENSG00000171295), ZNF556 (ENSG00000172000), ZNF554 (ENSG00000172006), ZNF596 (ENSG00000172748), ZNF80 (ENSG00000174255), ZNF266 (ENSG00000174652), ZNF25 (ENSG00000175395), ZNF77 (ENSG00000175691), ZNF169 (ENSG00000175787), ZNF404 (ENSG00000176222), ZNF491 (ENSG00000177599), ZNF620 (ENSG00000177842), ZNF619 (ENSG00000177873), ZNF875 (ENSG00000181666), ZNF329 (ENSG00000181894), ZFP90 (ENSG00000184939), ZNF566 (ENSG00000186017), ZNF529 (ENSG00000186020), ZNF749 (ENSG00000186230), ZNF555 (ENSG00000186300)
Protein
Protein identifiers
Zinc finger protein 674 — Q2M3X9 (reviewed: Q2M3X9)
All UniProt accessions (3): Q2M3X9, A0A804HHU7, E5RHV3
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in transcriptional regulation.
Subcellular location. Nucleus.
Tissue specificity. Expressed in testis.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q2M3X9-1 | 1 | yes |
| Q2M3X9-2 | 2 |
RefSeq proteins (3): NP_001034980, NP_001139763, NP_001177346* (*=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 |
| IPR050752 | C2H2-ZF_domain | Family |
Pfam: PF00096, PF01352
UniProt features (20 total): zinc finger region 11, sequence variant 3, chain 1, domain 1, region of interest 1, compositionally biased region 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q2M3X9-F1 | 65.55 | 0.18 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 52 (showing top):
GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, chrXp11, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, PGF_UP.V1_UP, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, ZIM3_TARGET_GENES, ZNF2_TARGET_GENES, ZNF30_TARGET_GENES, ZNF488_TARGET_GENES, ZNF766_TARGET_GENES, ZNF843_TARGET_GENES, MIR4728_5P, LET_7C_3P, MIR7106_5P, MIR10522_5P
GO Biological Process (4): regulation of transcription by RNA polymerase II (GO:0006357), developmental process (GO:0032502), negative regulation of DNA-templated transcription (GO:0045892), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (6): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), DNA binding (GO:0003677), metal ion binding (GO:0046872), sequence-specific double-stranded DNA binding (GO:1990837)
GO Cellular Component (1): nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 2 |
| DNA-templated transcription | 2 |
| transcription by RNA polymerase II | 1 |
| biological_process | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| transcription cis-regulatory region binding | 1 |
| chromatin | 1 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 1 |
| DNA-binding transcription factor activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transition metal ion binding | 1 |
| nucleic acid binding | 1 |
| cation binding | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
574 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF674 | ZNF385B | Q569K4 | 856 |
| ZNF674 | CHST7 | Q9NS84 | 842 |
| ZNF674 | SLC9A7 | Q96T83 | 698 |
| ZNF674 | TRIM28 | Q13263 | 548 |
| ZNF674 | PHF8 | Q9UPP1 | 530 |
| ZNF674 | NBPF1 | Q3BBV0 | 513 |
| ZNF674 | NXF5 | Q9H1B4 | 448 |
| ZNF674 | POGZ | Q7Z3K3 | 414 |
| ZNF674 | SHROOM4 | Q9ULL8 | 400 |
| ZNF674 | ZCCHC12 | Q6PEW1 | 380 |
| ZNF674 | PPP1R2C | O14990 | 367 |
| ZNF674 | ZBTB21 | Q9ULJ3 | 354 |
| ZNF674 | TTK | P33981 | 350 |
| ZNF674 | NLGN4X | Q8N0W4 | 328 |
| ZNF674 | DUSP21 | Q9H596 | 326 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRIM28 | ZNF320 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF674 | H3-4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZNF674 | SERPINA3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (9): ZNF674 (Proximity Label-MS), S100A7 (Affinity Capture-MS), SBSN (Affinity Capture-MS), SERPINA3 (Affinity Capture-MS), S100A7A (Affinity Capture-MS), SERPINB4 (Affinity Capture-MS), ZNF674 (Affinity Capture-MS), ZNF674 (Affinity Capture-MS), ZNF674 (Affinity Capture-RNA)
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
97 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 59 |
| Likely benign | 9 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 625640 | GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622) | Pathogenic |
SpliceAI
1720 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:46514560:T:TA | donor_gain | 1.0000 |
| X:46528742:A:AC | donor_gain | 1.0000 |
| X:46528743:C:CC | donor_gain | 1.0000 |
| X:46528822:C:A | donor_gain | 1.0000 |
| X:46542069:TCA:T | donor_loss | 1.0000 |
| X:46542070:CA:C | donor_loss | 1.0000 |
| X:46545369:A:AC | donor_gain | 1.0000 |
| X:46545370:C:CC | donor_gain | 1.0000 |
| X:46522953:CAGG:C | donor_gain | 0.9900 |
| X:46528821:T:TA | donor_gain | 0.9900 |
| X:46540443:CTT:C | donor_gain | 0.9900 |
| X:46540444:TTT:T | donor_gain | 0.9900 |
| X:46540445:TTT:T | donor_gain | 0.9900 |
| X:46542067:ACT:A | donor_loss | 0.9900 |
| X:46542071:A:AC | donor_gain | 0.9900 |
| X:46542072:C:CC | donor_gain | 0.9900 |
| X:46542117:C:CC | acceptor_gain | 0.9900 |
| X:46544494:AACT:A | donor_loss | 0.9900 |
| X:46544495:ACTCA:A | donor_loss | 0.9900 |
| X:46544496:CTCA:C | donor_loss | 0.9900 |
| X:46544497:TCA:T | donor_loss | 0.9900 |
| X:46544498:CA:C | donor_loss | 0.9900 |
| X:46544500:C:CA | donor_loss | 0.9900 |
| X:46544500:CCT:C | donor_gain | 0.9900 |
| X:46544791:T:TA | donor_gain | 0.9900 |
| X:46545370:CTT:C | donor_gain | 0.9900 |
| X:46545370:CTTCA:C | donor_gain | 0.9900 |
| X:46545372:T:TA | donor_gain | 0.9900 |
| X:46528444:CC:C | acceptor_gain | 0.9800 |
| X:46528445:CC:C | acceptor_gain | 0.9800 |
AlphaMissense
3846 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:46499987:G:C | F534L | 0.998 |
| X:46499987:G:T | F534L | 0.998 |
| X:46499989:A:G | F534L | 0.998 |
| X:46499903:G:C | F562L | 0.997 |
| X:46499903:G:T | F562L | 0.997 |
| X:46499905:A:G | F562L | 0.997 |
| X:46500071:G:C | F506L | 0.997 |
| X:46500071:G:T | F506L | 0.997 |
| X:46500073:A:G | F506L | 0.997 |
| X:46500806:G:C | F261L | 0.997 |
| X:46500806:G:T | F261L | 0.997 |
| X:46500808:A:G | F261L | 0.997 |
| X:46500239:A:C | F450L | 0.996 |
| X:46500239:A:T | F450L | 0.996 |
| X:46500241:A:G | F450L | 0.996 |
| X:46500722:A:C | F289L | 0.996 |
| X:46500722:A:T | F289L | 0.996 |
| X:46500724:A:G | F289L | 0.996 |
| X:46499970:A:G | L540P | 0.995 |
| X:46500155:A:C | F478L | 0.995 |
| X:46500155:A:T | F478L | 0.995 |
| X:46500157:A:G | F478L | 0.995 |
| X:46500323:G:C | F422L | 0.995 |
| X:46500323:G:T | F422L | 0.995 |
| X:46500325:A:G | F422L | 0.995 |
| X:46500138:A:G | L484P | 0.994 |
| X:46500042:T:G | Q516P | 0.993 |
| X:46500126:T:G | Q488P | 0.993 |
| X:46500128:A:C | H487Q | 0.993 |
| X:46500128:A:T | H487Q | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000143601 (X:46526543 G>A), RS1000190741 (X:46527816 GGTAGA>G), RS1000312589 (X:46498999 A>G), RS1000397923 (X:46513614 G>A,T), RS1000426257 (X:46510227 C>A,T), RS1000559602 (X:46524619 G>A), RS1000592851 (X:46519004 A>C), RS1000622363 (X:46510595 C>A), RS1000623997 (X:46518671 G>A,C), RS1000631070 (X:46528406 C>A), RS1000736448 (X:46511237 TATAAAG>T), RS1000742592 (X:46536418 T>C), RS1000789704 (X:46546225 G>A), RS1000905542 (X:46545746 C>T), RS1000922825 (X:46508572 G>A)
Disease associations
OMIM: gene MIM:300573 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| intellectual disability | Disputed Evidence | X-linked |
| X-linked intellectual disability | Disputed Evidence | X-linked |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| X-linked intellectual disability | Disputed | XL |
Mondo (2): intellectual disability (MONDO:0001071), X-linked intellectual disability (MONDO:0100284)
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 |
|---|---|---|
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases abundance, increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| trichostatin A | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| chloropicrin | increases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | increases methylation, affects methylation | 1 |
| Calcitriol | decreases expression | 1 |
| Cisplatin | increases expression | 1 |
| Manganese | increases abundance, increases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Silicon Dioxide | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Urethane | increases expression | 1 |
| Aflatoxin B1 | affects methylation | 1 |
| Acrylamide | increases expression | 1 |
| Particulate Matter | increases expression, increases abundance | 1 |
Clinical trials (associated diseases)
198 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 |
| 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 |
| 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 |
| 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) |
| 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 |
| NCT01695395 | Not specified | COMPLETED | Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder |
| NCT01867554 | Not specified | COMPLETED | Research and Characterization of New Genes Involved in Intellectual Disability |
| NCT01915381 | Not specified | COMPLETED | Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities |
| NCT01988623 | Not specified | COMPLETED | Pivotal Response Treatment for Individuals With Intellectual Disabilities |
| NCT02099773 | Not specified | COMPLETED | Support Staff-client Interactions With Augmentative and Alternative Communication |
| NCT02136849 | Not specified | COMPLETED | Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic |
| NCT02225041 | Not specified | COMPLETED | Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood |
| NCT02414438 | Not specified | COMPLETED | Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study |
| NCT02451761 | Not specified | COMPLETED | Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability |
| NCT02461420 | Not specified | ACTIVE_NOT_RECRUITING | Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome |
| NCT02461459 | Not specified | ACTIVE_NOT_RECRUITING | Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC) |
| NCT02486081 | Not specified | COMPLETED | Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population |
| NCT02504502 | Not specified | COMPLETED | Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients |
| NCT02513277 | Not specified | COMPLETED | Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study |
| NCT02561754 | Not specified | COMPLETED | Weight Management for Adolescents With IDD |
| NCT02591446 | Not specified | COMPLETED | Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders |
| NCT02714868 | Not specified | COMPLETED | Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications) |
| NCT02721394 | Not specified | UNKNOWN | FCT With Young Children With ID in the UK: A Feasibility Project V.1 |
| NCT02746614 | Not specified | COMPLETED | Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability |
| NCT02836405 | Not specified | COMPLETED | TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders |
Related Atlas pages
- Associated diseases: intellectual disability, X-linked intellectual disability
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): X-linked intellectual disability