CCDC82
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Also known as FLJ23518
Summary
CCDC82 (coiled-coil domain containing 82, HGNC:26282) is a protein-coding gene on chromosome 11q21, encoding Coiled-coil domain-containing protein 82 (Q8N4S0).
Predicted to be active in nucleus.
Source: NCBI Gene 79780 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 107 total — 1 pathogenic, 2 likely-pathogenic
- MANE Select transcript:
NM_024725
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26282 |
| Approved symbol | CCDC82 |
| Name | coiled-coil domain containing 82 |
| Location | 11q21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ23518 |
| Ensembl gene | ENSG00000149231 |
| Ensembl biotype | protein_coding |
| OMIM | 619870 |
| Entrez | 79780 |
Gene structure
Transcript identifiers
Ensembl transcripts: 84 — 69 protein_coding, 11 retained_intron, 4 protein_coding_CDS_not_defined
ENST00000278520, ENST00000423339, ENST00000524836, ENST00000525786, ENST00000530106, ENST00000530203, ENST00000538597, ENST00000545264, ENST00000643839, ENST00000644312, ENST00000644686, ENST00000645302, ENST00000645366, ENST00000645439, ENST00000645500, ENST00000646050, ENST00000646638, ENST00000646818, ENST00000647080, ENST00000647522, ENST00000679577, ENST00000679616, ENST00000679696, ENST00000679708, ENST00000679788, ENST00000679823, ENST00000679856, ENST00000679960, ENST00000680049, ENST00000680052, ENST00000680171, ENST00000680322, ENST00000680334, ENST00000680532, ENST00000680728, ENST00000680763, ENST00000680859, ENST00000680979, ENST00000681014, ENST00000681164, ENST00000681200, ENST00000681238, ENST00000681451, ENST00000681745, ENST00000681868, ENST00000681899, ENST00000907426, ENST00000907427, ENST00000907428, ENST00000907429, ENST00000907430, ENST00000907431, ENST00000907432, ENST00000907433, ENST00000907434, ENST00000907435, ENST00000907436, ENST00000907437, ENST00000907438, ENST00000907439, ENST00000907440, ENST00000907441, ENST00000926607, ENST00000926608, ENST00000926609, ENST00000926610, ENST00000926611, ENST00000926612, ENST00000926613, ENST00000926614, ENST00000926615, ENST00000926616, ENST00000926617, ENST00000926618, ENST00000926619, ENST00000926620, ENST00000926621, ENST00000926622, ENST00000946084, ENST00000946085, ENST00000946086, ENST00000946087, ENST00000946088, ENST00000946089
RefSeq mRNA: 4 — MANE Select: NM_024725
NM_001318736, NM_001318737, NM_001363594, NM_024725
CCDS: CCDS8307, CCDS86241, CCDS86243
Canonical transcript exons
ENST00000646818 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000989461 | 96383269 | 96383473 |
| ENSE00000989462 | 96373375 | 96373467 |
| ENSE00000989463 | 96371013 | 96371137 |
| ENSE00000989464 | 96364980 | 96365150 |
| ENSE00000989465 | 96358993 | 96359178 |
| ENSE00002156584 | 96383962 | 96384761 |
| ENSE00002170563 | 96387530 | 96387613 |
| ENSE00002202004 | 96386254 | 96386293 |
| ENSE00003814582 | 96389844 | 96389912 |
| ENSE00003831146 | 96352773 | 96353714 |
Expression profiles
Bgee: expression breadth ubiquitous, 257 present calls, max score 96.11.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.3463 / max 473.6693, expressed in 1629 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 121921 | 11.3711 | 1616 |
| 121920 | 0.3069 | 111 |
| 121922 | 0.3044 | 108 |
| 121918 | 0.2546 | 118 |
| 121919 | 0.1072 | 36 |
| 206423 | 0.0020 | 1 |
Top tissues by expression
259 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 96.11 | gold quality |
| cortical plate | UBERON:0005343 | 95.35 | gold quality |
| corpus callosum | UBERON:0002336 | 95.04 | gold quality |
| sperm | CL:0000019 | 94.97 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 94.52 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 93.99 | gold quality |
| cerebellar cortex | UBERON:0002129 | 93.96 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 93.80 | gold quality |
| oviduct epithelium | UBERON:0004804 | 93.69 | gold quality |
| tibial nerve | UBERON:0001323 | 93.57 | gold quality |
| cerebellum | UBERON:0002037 | 93.56 | gold quality |
| mucosa of stomach | UBERON:0001199 | 93.39 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 93.21 | gold quality |
| tendon | UBERON:0000043 | 93.11 | gold quality |
| right testis | UBERON:0004534 | 93.07 | gold quality |
| left testis | UBERON:0004533 | 93.04 | gold quality |
| sural nerve | UBERON:0015488 | 93.01 | gold quality |
| testis | UBERON:0000473 | 92.94 | gold quality |
| embryo | UBERON:0000922 | 92.61 | gold quality |
| ganglionic eminence | UBERON:0004023 | 92.61 | gold quality |
| ventricular zone | UBERON:0003053 | 92.51 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 92.44 | gold quality |
| right lung | UBERON:0002167 | 92.14 | gold quality |
| spinal cord | UBERON:0002240 | 91.82 | gold quality |
| metanephros cortex | UBERON:0010533 | 91.69 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 91.63 | gold quality |
| tibial artery | UBERON:0007610 | 91.57 | gold quality |
| popliteal artery | UBERON:0002250 | 91.55 | gold quality |
| left coronary artery | UBERON:0001626 | 91.10 | gold quality |
| aorta | UBERON:0000947 | 91.08 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.93 |
| E-GEOD-81383 | no | 1325.90 |
| E-MTAB-7303 | no | 49.22 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
56 targeting CCDC82, 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-513A-5P | 100.00 | 69.77 | 2465 |
| 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
| HSA-MIR-8076 | 99.78 | 68.52 | 1170 |
| HSA-MIR-556-3P | 99.74 | 68.75 | 1203 |
| HSA-MIR-4422 | 99.72 | 72.07 | 2908 |
| HSA-MIR-3059-5P | 99.70 | 69.93 | 2491 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
| HSA-MIR-561-3P | 99.64 | 70.90 | 3647 |
| HSA-MIR-488-3P | 99.61 | 68.79 | 1731 |
Literature-anchored findings (GeneRIF, showing 1)
- Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing. (PMID:35118659)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ccdc82 | ENSDARG00000014966 |
| mus_musculus | Ccdc82 | ENSMUSG00000079084 |
| rattus_norvegicus | Ccdc82 | ENSRNOG00000005713 |
| drosophila_melanogaster | CG17233 | FBGN0036958 |
Protein
Protein identifiers
Coiled-coil domain-containing protein 82 — Q8N4S0 (reviewed: Q8N4S0)
All UniProt accessions (12): Q8N4S0, A0A024R3B8, A0A2R8Y4L3, A0A2R8Y7C3, A0A2R8YE98, A0A7P0T881, A0A7P0T8E7, A0A7P0T8I8, A0A7P0TAG3, A0A7P0TBN6, E9PMD6, F5H777
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N4S0-1 | 1 | yes |
| Q8N4S0-2 | 2 |
RefSeq proteins (4): NP_001305665, NP_001305666, NP_001350523, NP_079001* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR025244 | CCDC82 | Domain |
| IPR025451 | DUF4211 | Domain |
Pfam: PF13846, PF13926
UniProt features (22 total): modified residue 7, compositionally biased region 7, sequence variant 3, splice variant 2, chain 1, region of interest 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N4S0-F1 | 64.94 | 0.32 |
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 (7): 88, 131, 154, 195, 219, 227, 329
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 130 (showing top):
GCM_ZNF198, GCM_SUFU, BERTUCCI_INVASIVE_CARCINOMA_DUCTAL_VS_LOBULAR_DN, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, CUI_TCF21_TARGETS_2_DN, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_TURQUOISE_UP, GCM_PTK2, chr11q21, GCM_RAN, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLACK_UP, MYC_UP.V1_DN, CTTTGCA_MIR527, GUCY1B1_TARGET_GENES, HMGA1_TARGET_GENES
GO Biological Process (0):
GO Molecular Function (0):
GO Cellular Component (1): nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
418 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CCDC82 | GPALPP1 | Q8IXQ4 | 591 |
| CCDC82 | LRRC2 | Q9BYS8 | 513 |
| CCDC82 | BKGD | Q9H0W9 | 499 |
| CCDC82 | TBC1D22B | Q9NU19 | 460 |
| CCDC82 | RFX5 | P48382 | 436 |
| CCDC82 | SLC45A4 | Q5BKX6 | 426 |
| CCDC82 | GOLGA8O | A6NCC3 | 404 |
| CCDC82 | ZNF227 | Q86WZ6 | 402 |
| CCDC82 | GOLGA8Q | H3BV12 | 399 |
| CCDC82 | FRMD1 | Q8N878 | 396 |
| CCDC82 | GOLGA8N | F8WBI6 | 396 |
| CCDC82 | GOLGA8T | H3BQL2 | 390 |
| CCDC82 | TCERG1 | O14776 | 377 |
| CCDC82 | CADPS2 | Q86UW7 | 377 |
| CCDC82 | SCRN3 | Q0VDG4 | 375 |
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MARK2 | WDR46 | psi-mi:“MI:0914”(association) | 0.350 |
| Cdc16 | ANAPC15 | psi-mi:“MI:0914”(association) | 0.350 |
| Dynlrb1 | DYNC1LI2 | psi-mi:“MI:0914”(association) | 0.350 |
| MED12 | WBP2 | psi-mi:“MI:0914”(association) | 0.350 |
| NETO2 | TIA1 | psi-mi:“MI:0914”(association) | 0.350 |
| SGF29 | TRRAP | psi-mi:“MI:0914”(association) | 0.350 |
| COPS7A | BTBD10 | psi-mi:“MI:0914”(association) | 0.350 |
| Aff1 | UVRAG | psi-mi:“MI:0914”(association) | 0.350 |
| TINF2 | SIRT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CSNK2A1 | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
| CSNK2A2 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| CSNK2B | OSBPL8 | psi-mi:“MI:0914”(association) | 0.350 |
| RALBP1 | AP2A2 | psi-mi:“MI:0914”(association) | 0.350 |
| SSRP1 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| SUPT16H | ATRX | psi-mi:“MI:0914”(association) | 0.350 |
| CCDC82 | ALB | psi-mi:“MI:0914”(association) | 0.350 |
| SSRP1 | FABP3 | psi-mi:“MI:0914”(association) | 0.350 |
| VHL | CCDC82 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (55): CCDC82 (Affinity Capture-MS), CCDC82 (Affinity Capture-MS), CCDC82 (Affinity Capture-MS), CCDC82 (Affinity Capture-MS), CCDC82 (Affinity Capture-MS), CCDC82 (Affinity Capture-MS), CCDC82 (Affinity Capture-MS), CCDC82 (Affinity Capture-MS), CCDC82 (Affinity Capture-MS), SERPINB5 (Affinity Capture-MS), PKP3 (Affinity Capture-MS), PKP1 (Affinity Capture-MS), TOMM34 (Affinity Capture-MS), TRIM29 (Affinity Capture-MS), CALML3 (Affinity Capture-MS)
ESM2 similar proteins: A0A0G2L7I0, A0A1L8G2K9, A0A1P8AW69, A5D979, A8K979, B3H578, B4R4H1, D3ZVU1, F4HTH8, F4HXQ7, F4I8S3, F6UH96, G3X912, O64571, P0DKJ8, P62283, P62285, P62286, P62287, P62288, P62289, P62290, P62293, P62294, Q0IGK1, Q2PS26, Q56NI9, Q5QGU6, Q60GC1, Q6DJS0, Q6DRC5, Q6NYJ3, Q6PF04, Q7ZXG4, Q8BMI4, Q8BP27, Q8CIB9, Q8IZT6, Q8N4S0, Q94F87
Diamond homologs: Q66H73, Q6PG04, Q8N4S0
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 33 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Regulation of TP53 Activity through Phosphorylation | 5 | 23.6× | 1e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| DNA repair | 5 | 11.0× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
107 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 2 |
| Uncertain significance | 82 |
| Likely benign | 8 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 986805 | NM_024725.4(CCDC82):c.183del (p.Phe61fs) | Pathogenic |
| 1708245 | NM_024725.4(CCDC82):c.67C>T (p.Arg23Ter) | Likely pathogenic |
| 3777029 | NM_024725.4(CCDC82):c.709C>T (p.Arg237Ter) | Likely pathogenic |
SpliceAI
1429 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:96353721:A:C | acceptor_gain | 1.0000 |
| 11:96358988:CTTAC:C | donor_loss | 1.0000 |
| 11:96358989:TTA:T | donor_loss | 1.0000 |
| 11:96358991:ACCT:A | donor_gain | 1.0000 |
| 11:96358992:CCTC:C | donor_gain | 1.0000 |
| 11:96358994:T:TA | donor_gain | 1.0000 |
| 11:96359177:ACC:A | acceptor_loss | 1.0000 |
| 11:96359179:C:CA | acceptor_loss | 1.0000 |
| 11:96359180:T:C | acceptor_loss | 1.0000 |
| 11:96371008:TGTA:T | donor_loss | 1.0000 |
| 11:96371009:GTAC:G | donor_loss | 1.0000 |
| 11:96371010:TACCT:T | donor_loss | 1.0000 |
| 11:96371011:A:C | donor_loss | 1.0000 |
| 11:96371134:CCAT:C | acceptor_gain | 1.0000 |
| 11:96371135:CAT:C | acceptor_gain | 1.0000 |
| 11:96371135:CATC:C | acceptor_gain | 1.0000 |
| 11:96371136:AT:A | acceptor_gain | 1.0000 |
| 11:96371136:ATCTG:A | acceptor_loss | 1.0000 |
| 11:96371137:TCTG:T | acceptor_loss | 1.0000 |
| 11:96371138:C:CC | acceptor_gain | 1.0000 |
| 11:96371138:C:CG | acceptor_loss | 1.0000 |
| 11:96371143:C:CT | acceptor_gain | 1.0000 |
| 11:96371144:A:T | acceptor_gain | 1.0000 |
| 11:96371149:A:C | acceptor_gain | 1.0000 |
| 11:96373369:ACTT:A | donor_loss | 1.0000 |
| 11:96373370:CTT:C | donor_loss | 1.0000 |
| 11:96373371:TTACC:T | donor_loss | 1.0000 |
| 11:96373372:TACC:T | donor_loss | 1.0000 |
| 11:96373373:A:AC | donor_gain | 1.0000 |
| 11:96373374:C:CC | donor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000079965 (11:96365614 C>T), RS1000084043 (11:96373671 G>C), RS1000124578 (11:96368711 A>G,T), RS1000439490 (11:96363052 C>T), RS1000491223 (11:96356227 A>C,G), RS1000499268 (11:96385099 T>C), RS1000579293 (11:96369733 A>C), RS1000581360 (11:96380580 A>C,T), RS1000731079 (11:96374510 A>G), RS1000748263 (11:96362796 A>C), RS1000924316 (11:96387014 C>T), RS1001074025 (11:96381062 T>G), RS1001087559 (11:96375003 A>G), RS1001184593 (11:96374748 T>G), RS1001257403 (11:96367414 A>G)
Disease associations
OMIM: gene MIM:619870 | disease phenotypes:
GenCC curated gene-disease
Mondo (2): syndromic intellectual disability (MONDO:0000508), intellectual disability (MONDO:0001071)
Orphanet (2): Rare genetic syndromic intellectual disability (Orphanet:183763), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002077_1 | Parkinson’s disease | 2.000000e-07 |
| GCST008163_420 | Height | 2.000000e-06 |
| GCST009391_1026 | Metabolite levels | 4.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010540 | thiamine measurement |
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
43 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, decreases methylation | 4 |
| bisphenol A | decreases expression | 2 |
| trichostatin A | affects expression, increases expression | 2 |
| sodium arsenite | decreases expression, increases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| methylparaben | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| K 7174 | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| MT19c compound | increases expression | 1 |
| Bortezomib | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Acrolein | affects cotreatment, increases expression | 1 |
| Demecolcine | increases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Hydrogen Peroxide | affects cotreatment, decreases expression | 1 |
| Methotrexate | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
Clinical trials (associated diseases)
197 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
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): syndromic intellectual disability