ACTRT2
gene geneOn this page
Also known as Arp-T2ARPM2FLJ25424
Summary
ACTRT2 (actin related protein T2, HGNC:24026) is a protein-coding gene on chromosome 1p36.32, encoding Actin-related protein T2 (Q8TDY3).
The protein encoded by this intronless gene belongs to the actin family. Studies have shown that this protein may be involved in cytoskeletal organization similar to other cytoplasmic actin-related protein (ARP) subfamily members. Antibody raised against the human protein has been used to detect the protein by immunoblotting and immunofluorescence microscopy, demonstrating its specific synthesis in the testis, late in spermatid differentiation, and its localization in the calyx.
Source: NCBI Gene 140625 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 100 total — 11 pathogenic
- MANE Select transcript:
NM_080431
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24026 |
| Approved symbol | ACTRT2 |
| Name | actin related protein T2 |
| Location | 1p36.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Arp-T2, ARPM2, FLJ25424 |
| Ensembl gene | ENSG00000169717 |
| Ensembl biotype | protein_coding |
| OMIM | 608535 |
| Entrez | 140625 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000378404
RefSeq mRNA: 1 — MANE Select: NM_080431
NM_080431
CCDS: CCDS45
Canonical transcript exons
ENST00000378404 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001477363 | 3021467 | 3022903 |
Expression profiles
Bgee: expression breadth broad, 31 present calls, max score 96.67.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1568 / max 148.8580, expressed in 7 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 273 | 0.1420 | 7 |
| 201325 | 0.0076 | 3 |
| 272 | 0.0073 | 3 |
Top tissues by expression
206 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 96.67 | gold quality |
| right testis | UBERON:0004534 | 96.58 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 95.97 | gold quality |
| testis | UBERON:0000473 | 93.53 | gold quality |
| sperm | CL:0000019 | 88.47 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.10 | gold quality |
| adult organism | UBERON:0007023 | 84.52 | gold quality |
| pancreatic ductal cell | CL:0002079 | 72.40 | silver quality |
| upper arm skin | UBERON:0004263 | 65.53 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 64.85 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 64.76 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 56.15 | gold quality |
| quadriceps femoris | UBERON:0001377 | 56.14 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 56.10 | gold quality |
| pericardium | UBERON:0002407 | 55.87 | gold quality |
| myocardium | UBERON:0002349 | 55.82 | gold quality |
| kidney epithelium | UBERON:0004819 | 55.47 | gold quality |
| vastus lateralis | UBERON:0001379 | 55.37 | gold quality |
| superficial temporal artery | UBERON:0001614 | 55.04 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 54.90 | gold quality |
| parotid gland | UBERON:0001831 | 54.38 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 54.35 | gold quality |
| deltoid | UBERON:0001476 | 53.26 | gold quality |
| tibialis anterior | UBERON:0001385 | 51.41 | silver quality |
| oocyte | CL:0000023 | 49.67 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 48.81 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 48.00 | gold quality |
| ileal mucosa | UBERON:0000331 | 47.15 | silver quality |
| body of tongue | UBERON:0011876 | 47.08 | gold quality |
| cauda epididymis | UBERON:0004360 | 46.66 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-134144 | yes | 31.68 |
| E-ANND-3 | no | 0.66 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 1)
- Describes the discovery of two actin-related proteins as major components in a cytoskeletal, nonmotile structure of bull spermatozoa, suggesting that certain members of this family of proteins may serve functions other than nucleation of actin filaments. (PMID:12243744)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Actrt2 | ENSMUSG00000051276 |
| rattus_norvegicus | Actrt2 | ENSRNOG00000012586 |
Paralogs (26): ACTR6 (ENSG00000075089), ACTB (ENSG00000075624), ACTL6B (ENSG00000077080), ACTR5 (ENSG00000101442), ACTR3C (ENSG00000106526), ACTA2 (ENSG00000107796), ACTR8 (ENSG00000113812), ACTR1B (ENSG00000115073), ACTR3 (ENSG00000115091), ACTL8 (ENSG00000117148), ACTRT1 (ENSG00000123165), ACTR10 (ENSG00000131966), ACTR3B (ENSG00000133627), ACTL6A (ENSG00000136518), ACTR2 (ENSG00000138071), ACTR1A (ENSG00000138107), ACTA1 (ENSG00000143632), ACTL7B (ENSG00000148156), ACTC1 (ENSG00000159251), ACTG2 (ENSG00000163017), ACTBL2 (ENSG00000169067), ACTL9 (ENSG00000181786), ACTG1 (ENSG00000184009), ACTRT3 (ENSG00000184378), ACTL7A (ENSG00000187003), ACTL10 (ENSG00000288649)
Protein
Protein identifiers
Actin-related protein T2 — Q8TDY3 (reviewed: Q8TDY3)
Alternative names: Actin-related protein M2
All UniProt accessions (1): Q8TDY3
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Cytoplasm. Cytoskeleton.
Similarity. Belongs to the actin family.
RefSeq proteins (1): NP_536356* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004000 | Actin | Family |
| IPR020902 | Actin/actin-like_CS | Conserved_site |
| IPR043129 | ATPase_NBD | Homologous_superfamily |
Pfam: PF00022
UniProt features (4 total): sequence conflict 2, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TDY3-F1 | 93.42 | 0.85 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 24 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_DN, MARTINEZ_RB1_TARGETS_UP, MARTINEZ_RB1_AND_TP53_TARGETS_UP, GOMF_STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, chr1p36, ZNF436_TARGET_GENES, GSE13229_IMM_VS_INTMATURE_NKCELL_UP, GSE13485_DAY3_VS_DAY21_YF17D_VACCINE_PBMC_DN, GSE13485_DAY7_VS_DAY21_YF17D_VACCINE_PBMC_DN, GSE10211_UV_INACT_SENDAI_VS_LIVE_SENDAI_VIRUS_TRACHEAL_EPITHELIAL_CELLS_UP, GSE17721_PAM3CSK4_VS_GADIQUIMOD_6H_BMDC_DN, GSE17974_IL4_AND_ANTI_IL12_VS_UNTREATED_12H_ACT_CD4_TCELL_DN, GOCC_ACTIN_CYTOSKELETON, GSE8921_UNSTIM_0H_VS_TLR1_2_STIM_MONOCYTE_3H_UP
GO Biological Process (0):
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (3): actin cytoskeleton (GO:0015629), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 1 |
| cytoskeleton | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
2100 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ACTRT2 | OR2T34 | Q8NGX1 | 542 |
| ACTRT2 | OR10J1 | P30954 | 516 |
| ACTRT2 | TSACC | Q96A04 | 507 |
| ACTRT2 | C22orf23 | Q9BZE7 | 507 |
| ACTRT2 | PRDM16 | Q9HAZ2 | 495 |
| ACTRT2 | ACTL9 | Q8TC94 | 478 |
| ACTRT2 | CATSPERT | Q53TS8 | 474 |
| ACTRT2 | CFAP161 | Q6P656 | 462 |
| ACTRT2 | FAM186B | Q8IYM0 | 453 |
| ACTRT2 | TMEM247 | A6NEH6 | 452 |
| ACTRT2 | ACTRT1 | Q8TDG2 | 449 |
| ACTRT2 | PRR30 | Q53SZ7 | 447 |
| ACTRT2 | GKAP1 | Q5VSY0 | 447 |
| ACTRT2 | SLC67A1-AS | Q8N1D0 | 447 |
| ACTRT2 | CAPZA3 | Q96KX2 | 444 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ACTRT2 | PDCL3 | psi-mi:“MI:0915”(physical association) | 0.500 |
| ACTRT2 | ACSL4 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (10): PDCL3 (Affinity Capture-MS), CCT6A (Affinity Capture-MS), CCT6B (Affinity Capture-MS), CCT2 (Affinity Capture-MS), CCT7 (Affinity Capture-MS), ACSL4 (Affinity Capture-MS), SLC25A19 (Affinity Capture-MS), CCT3 (Affinity Capture-MS), TCP1 (Affinity Capture-MS), ACTRT2 (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A0JNU3, A2AKE7, A6H603, A6QQ74, D3ZBP4, F1MH07, O43542, Q149M9, Q2T9W4, Q2TA43, Q2V057, Q32KZ2, Q32L91, Q3ZBE0, Q49HH9, Q49KI5, Q4QR76, Q4R317, Q4R6Q3, Q4R821, Q5JWF8, Q5REQ1, Q5XIK1, Q641W9, Q643R3, Q68FW7, Q6AY16, Q6NVG1, Q76HM9, Q86U10, Q8CG27, Q8K4F6, Q8TC94, Q8TDG2, Q8TDY3, Q8TDZ2, Q8VCZ9, Q8VDP3, Q8VEI3, Q95JK8
Diamond homologs: A2BDB0, O13419, O18499, O18500, O18840, O42161, O74258, O93400, P02576, P02578, P07830, P10365, P10984, P10988, P10989, P10993, P12432, P14883, P17304, P20359, P26197, P27131, P29751, P30162, P41340, P48465, P48975, P50138, P53455, P53485, P53500, P53505, P53689, P60009, P60010, P60011, P60706, P60707, P60708, P60709
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
100 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 11 |
| Likely pathogenic | 0 |
| Uncertain significance | 81 |
| Likely benign | 7 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (11)
| Variant ID | HGVS | Classification |
|---|---|---|
| 148513 | GRCh38/hg38 1p36.32-36.31(chr1:2906020-5336116)x1 | Pathogenic |
| 1808734 | GRCh37/hg19 1p36.33-36.32(chr1:2173570-5023430)x1 | Pathogenic |
| 3063066 | GRCh37/hg19 1p36.33-36.31(chr1:1959612-5471235)x1 | Pathogenic |
| 443115 | GRCh37/hg19 1p36.33-36.32(chr1:1415800-5007235)x1 | Pathogenic |
| 565062 | GRCh37/hg19 1p36.33-36.32(chr1:2190850-3503606)x1 | Pathogenic |
| 58040 | GRCh38/hg38 1p36.32(chr1:2659405-3273322)x3 | Pathogenic |
| 58319 | GRCh38/hg38 1p36.33-36.32(chr1:1482278-3152536)x1 | Pathogenic |
| 58321 | GRCh38/hg38 1p36.32(chr1:2683403-4729121)x1 | Pathogenic |
| 625765 | GRCh37/hg19 1p36.33-36.31(chr1:1471075-5831645) | Pathogenic |
| 638130 | GRCh37/hg19 1p36.33-36.32(chr1:2261222-5304873)x1 | Pathogenic |
| 666432 | GRCh37/hg19 1p36.33-36.32(chr1:1723651-3444846)x1 | Pathogenic |
SpliceAI
46 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:3022549:A:AG | donor_gain | 0.6500 |
| 1:3022406:G:T | donor_gain | 0.5800 |
| 1:3022491:C:G | donor_gain | 0.5800 |
| 1:3022406:G:GT | donor_gain | 0.5700 |
| 1:3022562:G:GT | donor_gain | 0.5200 |
| 1:3022577:G:T | donor_gain | 0.4900 |
| 1:3022349:C:G | donor_gain | 0.4600 |
| 1:3022543:A:G | donor_gain | 0.4600 |
| 1:3022577:G:GT | donor_gain | 0.4600 |
| 1:3022544:G:GG | donor_gain | 0.4400 |
| 1:3022398:GTCC:G | donor_gain | 0.4000 |
| 1:3022399:TCCT:T | donor_gain | 0.4000 |
| 1:3022395:G:GT | donor_gain | 0.3900 |
| 1:3022638:G:GT | donor_gain | 0.3600 |
| 1:3022698:T:TA | donor_gain | 0.3300 |
| 1:3022699:G:GA | donor_gain | 0.3200 |
| 1:3022405:GGGA:G | donor_gain | 0.3100 |
| 1:3022662:G:GT | donor_gain | 0.3100 |
| 1:3022154:G:GA | donor_gain | 0.3000 |
| 1:3021597:G:GT | donor_gain | 0.2800 |
| 1:3022197:G:GC | acceptor_gain | 0.2800 |
| 1:3021597:G:T | donor_gain | 0.2700 |
| 1:3022477:T:A | donor_gain | 0.2700 |
| 1:3022220:A:AG | acceptor_gain | 0.2600 |
| 1:3022221:G:GG | acceptor_gain | 0.2600 |
| 1:3022547:T:A | donor_gain | 0.2600 |
| 1:3022695:C:A | acceptor_gain | 0.2600 |
| 1:3022110:G:GT | donor_gain | 0.2500 |
| 1:3022153:T:TA | donor_gain | 0.2500 |
| 1:3022374:G:GT | donor_gain | 0.2500 |
AlphaMissense
2473 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:3022161:A:C | S159R | 0.974 |
| 1:3022163:C:A | S159R | 0.974 |
| 1:3022163:C:G | S159R | 0.974 |
| 1:3022533:A:C | S283R | 0.971 |
| 1:3022535:C:A | S283R | 0.971 |
| 1:3022535:C:G | S283R | 0.971 |
| 1:3022710:T:A | W342R | 0.970 |
| 1:3022710:T:C | W342R | 0.970 |
| 1:3022337:A:C | K217N | 0.967 |
| 1:3022337:A:T | K217N | 0.967 |
| 1:3022068:T:C | F128L | 0.963 |
| 1:3022070:C:A | F128L | 0.963 |
| 1:3022070:C:G | F128L | 0.963 |
| 1:3022758:T:A | W358R | 0.960 |
| 1:3022758:T:C | W358R | 0.960 |
| 1:3022627:G:C | R314P | 0.956 |
| 1:3022746:T:C | F354L | 0.956 |
| 1:3022748:C:A | F354L | 0.956 |
| 1:3022748:C:G | F354L | 0.956 |
| 1:3022815:T:C | F377L | 0.951 |
| 1:3022817:C:A | F377L | 0.951 |
| 1:3022817:C:G | F377L | 0.951 |
| 1:3021752:A:C | K22N | 0.949 |
| 1:3021752:A:T | K22N | 0.949 |
| 1:3022476:T:C | F264L | 0.945 |
| 1:3022478:C:A | F264L | 0.945 |
| 1:3022478:C:G | F264L | 0.945 |
| 1:3022189:C:A | P168H | 0.941 |
| 1:3022630:T:C | L315P | 0.934 |
| 1:3022525:T:A | V280D | 0.932 |
dbSNP variants (sampled 300 via entrez): RS1000415473 (1:3022307 G>A), RS1000783590 (1:3019639 C>T), RS1001000664 (1:3021108 T>A), RS1002720697 (1:3023286 G>A), RS1002770605 (1:3021579 A>T), RS1004385684 (1:3022955 GGCCCTGACAGTGAATCTGTGAAGTGTCTTGGTCCACACCC>G), RS1004549796 (1:3019733 C>T), RS1004621741 (1:3019575 G>A,T), RS1006784944 (1:3021905 C>A), RS1007207452 (1:3023054 A>G), RS1008782805 (1:3019900 G>A), RS1010732877 (1:3019933 C>T), RS1011232692 (1:3023027 G>A,T), RS1011744431 (1:3023260 G>A,C), RS1012258936 (1:3022512 C>G,T)
Disease associations
OMIM: gene MIM:608535 | disease phenotypes: MIM:607872
GenCC curated gene-disease
Mondo (2): chromosome 1p36 deletion syndrome (MONDO:0011929), intellectual disability (MONDO:0001071)
Orphanet (2): 1p36 deletion syndrome (Orphanet:1606), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
11 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003901_7 | Cognitive decline (age-related) | 1.000000e-06 |
| GCST004749_57 | Lung cancer in ever smokers | 4.000000e-06 |
| GCST005194_148 | Coronary artery disease | 2.000000e-07 |
| GCST005951_35 | Body mass index | 4.000000e-08 |
| GCST006288_592 | Heel bone mineral density | 6.000000e-14 |
| GCST006288_699 | Heel bone mineral density | 1.000000e-07 |
| GCST006288_95 | Heel bone mineral density | 1.000000e-06 |
| GCST006979_848 | Heel bone mineral density | 7.000000e-47 |
| GCST010866_12 | Coronary artery disease | 6.000000e-12 |
| GCST012295_7 | Schizophrenia, bipolar disorder or recurrent major depressive disorder x sex interaction | 7.000000e-06 |
| GCST012319_9 | LDL levels x SSRI levels (escitalopram or citalopram) interaction in schizophrenia or bipolar disorder | 5.000000e-06 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0009270 | heel bone mineral density |
| EFO:0004952 | disease recurrence |
| EFO:0008343 | sex interaction measurement |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
| C535362 | Chromosome 1p36 Deletion Syndrome (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
14 total (human), top 14 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects methylation, increases abundance, decreases expression, increases expression | 3 |
| bisphenol A | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| 3,4,5,3’,4’-pentachlorobiphenyl | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| Benzo(a)pyrene | decreases methylation, affects methylation | 1 |
| Coal | increases abundance, increases expression | 1 |
| Folic Acid | decreases expression | 1 |
| Ozone | affects methylation, increases abundance | 1 |
| Smoke | increases abundance, increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Particulate Matter | increases abundance, decreases expression | 1 |
Clinical trials (associated diseases)
199 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) |
| NCT01793168 | Not specified | RECRUITING | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford |
| NCT02381457 | Not specified | COMPLETED | SNP-based Microdeletion and Aneuploidy RegisTry (SMART) |
| 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 |
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Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): chromosome 1p36 deletion syndrome