TMEM132D
geneOn this page
Also known as KIAA1944MOLTPPP1R153
Summary
TMEM132D (transmembrane protein 132D, HGNC:29411) is a protein-coding gene on chromosome 12q24.33, encoding Transmembrane protein 132D (Q14C87). Regulate neuronals morphology via inhibition of the WAVE regulatory complex (WCR), a complex that controls F-actin cytoskeletal dynamics.
Predicted to be located in membrane.
Source: NCBI Gene 121256 — RefSeq curated summary.
At a glance
- Gene–disease (curated): intellectual disability (Limited, GenCC)
- GWAS associations: 20
- Clinical variants (ClinVar): 216 total
- MANE Select transcript:
NM_133448
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29411 |
| Approved symbol | TMEM132D |
| Name | transmembrane protein 132D |
| Location | 12q24.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1944, MOLT, PPP1R153 |
| Ensembl gene | ENSG00000151952 |
| Ensembl biotype | protein_coding |
| OMIM | 611257 |
| Entrez | 121256 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000389441, ENST00000422113
RefSeq mRNA: 1 — MANE Select: NM_133448
NM_133448
CCDS: CCDS9266
Canonical transcript exons
ENST00000422113 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001002597 | 129081759 | 129082032 |
| ENSE00001203227 | 129071726 | 129075059 |
| ENSE00001294780 | 129699810 | 129700698 |
| ENSE00001307778 | 129337634 | 129337817 |
| ENSE00001314726 | 129078534 | 129078725 |
| ENSE00001325482 | 129531059 | 129531205 |
| ENSE00001367158 | 129903261 | 129904025 |
| ENSE00001505858 | 129209520 | 129209663 |
| ENSE00002363476 | 129084497 | 129084702 |
Expression profiles
Bgee: expression breadth broad, 79 present calls, max score 90.03.
FANTOM5 (CAGE): breadth broad, TPM avg 0.8546 / max 59.6868, expressed in 244 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 134146 | 0.4161 | 156 |
| 134145 | 0.3472 | 155 |
| 134144 | 0.0913 | 48 |
Top tissues by expression
227 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| middle temporal gyrus | UBERON:0002771 | 90.03 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 85.31 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 83.64 | gold quality |
| endothelial cell | CL:0000115 | 83.56 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.31 | gold quality |
| primary visual cortex | UBERON:0002436 | 80.70 | gold quality |
| prefrontal cortex | UBERON:0000451 | 80.31 | gold quality |
| ventricular zone | UBERON:0003053 | 79.78 | gold quality |
| islet of Langerhans | UBERON:0000006 | 78.56 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 77.89 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 77.58 | gold quality |
| occipital lobe | UBERON:0002021 | 77.12 | gold quality |
| frontal cortex | UBERON:0001870 | 77.06 | gold quality |
| neocortex | UBERON:0001950 | 76.19 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 74.72 | gold quality |
| ganglionic eminence | UBERON:0004023 | 74.14 | gold quality |
| cerebral cortex | UBERON:0000956 | 74.06 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 73.53 | gold quality |
| entorhinal cortex | UBERON:0002728 | 72.78 | gold quality |
| postcentral gyrus | UBERON:0002581 | 72.53 | gold quality |
| right frontal lobe | UBERON:0002810 | 72.43 | gold quality |
| parietal lobe | UBERON:0001872 | 72.07 | gold quality |
| tibialis anterior | UBERON:0001385 | 71.45 | silver quality |
| pancreatic ductal cell | CL:0002079 | 70.75 | gold quality |
| temporal lobe | UBERON:0001871 | 69.65 | gold quality |
| forebrain | UBERON:0001890 | 68.01 | gold quality |
| nucleus accumbens | UBERON:0001882 | 67.07 | gold quality |
| amygdala | UBERON:0001876 | 66.90 | gold quality |
| putamen | UBERON:0001874 | 65.29 | gold quality |
| brain | UBERON:0000955 | 64.61 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-180759 | yes | 1918.71 |
| E-HCAD-35 | yes | 94.89 |
| E-ANND-3 | yes | 3.76 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
90 targeting TMEM132D, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-139-5P | 99.80 | 69.50 | 1399 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-4766-5P | 99.75 | 69.23 | 2662 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
Literature-anchored findings (GeneRIF, showing 8)
- TMEM132D may be an important new candidate gene for PD as well as more generally for anxiety-related behavior. (PMID:20368705)
- We found no genome-wide statistically significant associations but identified several plausible candidate genes among findings at p < 5E-05: TMEM132D, LRRC7, SEMA3A, ALK, and STIP1. (PMID:21784300)
- data suggest that not only common but also putatively functional and/or rare variants within TMEM132D might contribute to the risk to develop anxiety disorders (PMID:22911938)
- TMEM132D was first identified as a possible candidate gene for panic disorder in a genome-wide association study conducted at the Max Planck Institute of Psychiatry in Munich. (PMID:22948381)
- Enhanced amygdala gray matter volumes and anxiety-related (but not panic-specific) personality profiles are found in healthy normal carriers of the rs11060369 AA TMEM132D genotype. (PMID:24495968)
- TMEM132D, COMT and GABRA6 gene polymorphisms may influence susceptibility to panic disorder(PD) and major depressive disorder(MDD)in Japanese adults; these variants may increase vulnerability to PD by modulating oligodendrocytes and GABA and dopaminergic functions in related brain regions, altering neuronal processing of anxiety-related emotionl signals (PMID:25974322)
- Thus, GPC6 and TMEM132D may serve as predictors of CD8+ T-lymphocyte infiltration and as favorable prognostic markers in early stage ovarian cancer with important consequences for diagnosis. (PMID:26448945)
- TMEM132D and VIPR2 Polymorphisms as Genetic Risk Loci for Retinal Detachment: A Genome-Wide Association Study and Polygenic Risk Score Analysis. (PMID:37695605)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | TMEM132D | ENSDARG00000102759 |
| mus_musculus | Tmem132d | ENSMUSG00000034310 |
| rattus_norvegicus | Tmem132d | ENSRNOG00000008447 |
| drosophila_melanogaster | dtn | FBGN0262730 |
| caenorhabditis_elegans | WBGENE00022175 |
Paralogs (4): TMEM132A (ENSG00000006118), TMEM132B (ENSG00000139364), TMEM132C (ENSG00000181234), TMEM132E (ENSG00000181291)
Protein
Protein identifiers
Transmembrane protein 132D — Q14C87 (reviewed: Q14C87)
Alternative names: Mature oligodendrocytes transmembrane protein
All UniProt accessions (1): Q14C87
UniProt curated annotations — full annotation on UniProt →
Function. Regulate neuronals morphology via inhibition of the WAVE regulatory complex (WCR), a complex that controls F-actin cytoskeletal dynamics.
Subunit / interactions. Interacts (via C-terminus) with NCKAP.
Subcellular location. Membrane.
Tissue specificity. Expressed in mature oligodendrocytes. Detected in the brain, lung, pancreas and testis. Highly expressed in mature neurons of the adult nervous system.
Similarity. Belongs to the TMEM132 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q14C87-1 | 1 | yes |
| Q14C87-2 | 2 |
RefSeq proteins (1): NP_597705* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026307 | TMEM132 | Family |
| IPR031435 | TMEM132_N | Domain |
| IPR031436 | TMEM132_C | Domain |
| IPR031437 | Ig_TMEM132_4th | Domain |
| IPR055421 | TMEM132_3rd | Domain |
| IPR055422 | Ig_TMEM132_2nd | Domain |
| IPR055423 | Ig_TMEM132_5th | Domain |
| IPR055424 | Ig_TMEM132_6th | Domain |
Pfam: PF15705, PF15706, PF16070, PF23039, PF23481, PF23486, PF23487
UniProt features (15 total): sequence variant 3, sequence conflict 2, topological domain 2, splice variant 2, signal peptide 1, chain 1, transmembrane region 1, region of interest 1, compositionally biased region 1, glycosylation site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q14C87-F1 | 70.52 | 0.35 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (1): 505
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 42 (showing top):
ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, chr12q24, MEISSNER_NPC_HCP_WITH_H3K4ME2, PILON_KLF1_TARGETS_UP, HMGA1_TARGET_GENES, MIR4668_5P, MIR6875_3P, MIR4766_5P, MIR3978, MIR139_5P, MIR4478, MIR6884_5P, MIR6730_5P, MIR485_5P, MIR4659B_5P
GO Biological Process (0):
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (1): membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
816 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMEM132D | TCERG1L | Q5VWI1 | 484 |
| TMEM132D | CCDC92 | Q53HC0 | 461 |
| TMEM132D | TAFA5 | Q7Z5A7 | 460 |
| TMEM132D | POLN | Q7Z5Q5 | 456 |
| TMEM132D | GLT1D1 | Q96MS3 | 424 |
| TMEM132D | OR4N5 | Q8IXE1 | 392 |
| TMEM132D | LYST | Q99698 | 387 |
| TMEM132D | FZD10 | Q9ULW2 | 379 |
| TMEM132D | ENOPH1 | Q9UHY7 | 378 |
| TMEM132D | RBM20 | Q5T481 | 373 |
| TMEM132D | CDH10 | Q9Y6N8 | 370 |
| TMEM132D | OR4K14 | Q8NGD5 | 370 |
| TMEM132D | HPS6 | Q86YV9 | 364 |
| TMEM132D | PPM1F | P49593 | 360 |
| TMEM132D | VWC2L | B2RUY7 | 357 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TMEM132D | PPP1CA | psi-mi:“MI:0915”(physical association) | 0.540 |
| PPP1CA | TMEM132D | psi-mi:“MI:0407”(direct interaction) | 0.540 |
BioGRID (75): NCKAP1 (Two-hybrid), RNF2 (Two-hybrid), HDAC2 (Two-hybrid), NDUFS5 (Two-hybrid), PLSCR2 (Two-hybrid), STK39 (Two-hybrid), HOXA9 (Two-hybrid), TMED7-TICAM2 (Two-hybrid), PTPRD (Two-hybrid), CD59 (Two-hybrid), NAMPT (Two-hybrid), ANKRD36 (Two-hybrid), PNISR (Two-hybrid), CMPK1 (Two-hybrid), UMOD (Two-hybrid)
ESM2 similar proteins: A2VDP6, A4D0V7, B1WB06, F1N2K1, O43548, P06802, P15396, P22413, P50127, P79949, P97259, Q05004, Q08834, Q08BN9, Q09328, Q14C87, Q14DG7, Q2TU62, Q3L7M0, Q3U095, Q52KP5, Q5R748, Q5RCA5, Q5XI89, Q5ZLK4, Q6AX23, Q6DNG6, Q6UWF7, Q6ZXA0, Q76HP2, Q76HP3, Q86UX2, Q8BG22, Q8C7K6, Q8K1B9, Q8N323, Q8NCG5, Q8NHY0, Q8R4G6, Q8VI38
Diamond homologs: L7VG99, Q14C87, Q14DG7, Q24JP5, Q6IEE6, Q6IEE7, Q76HP2, Q76HP3, Q80WF4, Q8CEF9, Q8N3T6, Q922P8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
216 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 163 |
| Likely benign | 34 |
| Benign | 12 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3999 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:129081753:TTTTA:T | donor_loss | 1.0000 |
| 12:129081754:TTTA:T | donor_loss | 1.0000 |
| 12:129081755:TTAC:T | donor_loss | 1.0000 |
| 12:129081756:TACCT:T | donor_loss | 1.0000 |
| 12:129081757:ACCT:A | donor_loss | 1.0000 |
| 12:129082028:CAGGC:C | acceptor_gain | 1.0000 |
| 12:129082031:GCCT:G | acceptor_loss | 1.0000 |
| 12:129082033:C:CC | acceptor_gain | 1.0000 |
| 12:129082033:CTGTG:C | acceptor_loss | 1.0000 |
| 12:129082034:T:A | acceptor_loss | 1.0000 |
| 12:129084495:A:C | donor_loss | 1.0000 |
| 12:129084495:ACCT:A | donor_gain | 1.0000 |
| 12:129084496:CCTC:C | donor_gain | 1.0000 |
| 12:129084498:T:TA | donor_gain | 1.0000 |
| 12:129084698:GAAAC:G | acceptor_gain | 1.0000 |
| 12:129084699:AAAC:A | acceptor_gain | 1.0000 |
| 12:129084700:AAC:A | acceptor_gain | 1.0000 |
| 12:129084700:AACC:A | acceptor_loss | 1.0000 |
| 12:129084701:AC:A | acceptor_gain | 1.0000 |
| 12:129084701:ACC:A | acceptor_loss | 1.0000 |
| 12:129084702:CCTG:C | acceptor_gain | 1.0000 |
| 12:129084703:C:CC | acceptor_gain | 1.0000 |
| 12:129084703:C:CG | acceptor_loss | 1.0000 |
| 12:129084704:T:G | acceptor_loss | 1.0000 |
| 12:129084705:G:C | acceptor_gain | 1.0000 |
| 12:129084713:G:C | acceptor_gain | 1.0000 |
| 12:129084713:G:GC | acceptor_gain | 1.0000 |
| 12:129337630:TTA:T | donor_loss | 1.0000 |
| 12:129337632:A:AC | donor_gain | 1.0000 |
| 12:129337632:ACCA:A | donor_loss | 1.0000 |
AlphaMissense
7272 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:129084525:A:G | W541R | 0.999 |
| 12:129084525:A:T | W541R | 0.999 |
| 12:129337732:A:G | W401R | 0.999 |
| 12:129337732:A:T | W401R | 0.999 |
| 12:129074034:A:C | F1047L | 0.998 |
| 12:129074034:A:T | F1047L | 0.998 |
| 12:129074036:A:G | F1047L | 0.998 |
| 12:129074373:G:C | F934L | 0.998 |
| 12:129074373:G:T | F934L | 0.998 |
| 12:129074375:A:G | F934L | 0.998 |
| 12:129337730:C:A | W401C | 0.997 |
| 12:129337730:C:G | W401C | 0.997 |
| 12:129699819:A:G | F320S | 0.997 |
| 12:129699852:A:T | V309D | 0.997 |
| 12:129074394:G:C | F927L | 0.996 |
| 12:129074394:G:T | F927L | 0.996 |
| 12:129074396:A:G | F927L | 0.996 |
| 12:129700263:G:T | A172D | 0.996 |
| 12:129074035:A:G | F1047S | 0.995 |
| 12:129074374:A:G | F934S | 0.995 |
| 12:129074386:G:T | A930D | 0.995 |
| 12:129074393:A:G | C928R | 0.995 |
| 12:129084523:C:A | W541C | 0.995 |
| 12:129084523:C:G | W541C | 0.995 |
| 12:129084674:A:T | V491D | 0.995 |
| 12:129209549:A:G | C472R | 0.995 |
| 12:129209646:G:C | N439K | 0.995 |
| 12:129209646:G:T | N439K | 0.995 |
| 12:129337737:A:T | V399D | 0.995 |
| 12:129531145:C:A | W343C | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000005170 (12:129632660 T>C), RS1000026774 (12:129447959 T>A), RS1000034084 (12:129487600 A>G,T), RS1000039129 (12:129517048 G>A), RS1000042742 (12:129769022 T>C), RS1000045014 (12:129742810 A>C,G), RS1000045049 (12:129194689 G>T), RS1000048684 (12:129629492 C>G,T), RS1000051160 (12:129119173 G>T), RS1000051758 (12:129339596 A>G), RS1000061877 (12:129421631 T>C), RS1000063599 (12:129756726 G>C), RS1000064936 (12:129853024 C>G,T), RS1000068090 (12:129333539 A>G), RS1000076273 (12:129743102 C>G)
Disease associations
OMIM: gene MIM:611257 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| intellectual disability | Limited | Autosomal recessive |
Mondo (2): primary ovarian failure (MONDO:0005387), intellectual disability (MONDO:0001071)
Orphanet (1): NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
20 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_189 | Obesity-related traits | 5.000000e-07 |
| GCST001921_3 | Heart rate | 9.000000e-06 |
| GCST002696_11 | Anxiety disorder | 5.000000e-06 |
| GCST002812_3 | Schizophrenia (inflammation and infection response interaction) | 8.000000e-06 |
| GCST003075_12 | Cognitive decline rate in late mild cognitive impairment | 1.000000e-08 |
| GCST003983_41 | Male-pattern baldness | 4.000000e-08 |
| GCST004125_19 | Type 2 diabetes (age of onset) | 4.000000e-06 |
| GCST004250_23 | Alanine aminotransferase (ALT) levels after remission induction therapy in actute lymphoblastic leukemia (ALL) | 2.000000e-06 |
| GCST004863_65 | Mosquito bite size | 4.000000e-06 |
| GCST005023_28 | Initial pursuit acceleration | 6.000000e-07 |
| GCST005212_2 | Asthma | 5.000000e-06 |
| GCST006585_1320 | Blood protein levels | 1.000000e-18 |
| GCST007624_3 | Positive urgency | 5.000000e-07 |
| GCST007831_4 | Anti-thyroglobulin (TgAb) levels in Hashimoto’s thyroiditis | 1.000000e-06 |
| GCST007851_7 | Anti-thyroid peroxidase (TPOAb) and anti-thyroglobulin (TgAb) levels in Hashimoto’s thyroiditis | 6.000000e-06 |
| GCST008154_23 | Trunk fat mass | 3.000000e-06 |
| GCST008157_48 | Body fat mass | 1.000000e-06 |
| GCST009422_2 | Retinal venular tortuosity | 3.000000e-06 |
| GCST012034_8 | Sleep (1/2-day periodicity) | 2.000000e-08 |
| GCST012048_25 | Triglyceride levels | 8.000000e-09 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004730 | hormone measurement |
| EFO:0007050 | HSV1 seropositivity |
| EFO:0007710 | cognitive decline measurement |
| EFO:0007965 | response to combination chemotherapy |
| EFO:0008378 | mosquito bite reaction size measurement |
| EFO:0008434 | initial pursuit acceleration |
| EFO:0006946 | behavioural disinhibition measurement |
| EFO:0010554 | retinal vasculature measurement |
| EFO:0004530 | triglyceride 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 |
| D016649 | Primary Ovarian Insufficiency | C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| mercuric bromide | decreases expression, affects cotreatment | 2 |
| Resveratrol | affects cotreatment, decreases expression | 2 |
| Benzo(a)pyrene | increases methylation, affects methylation | 2 |
| Valproic Acid | increases expression, increases methylation | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, decreases expression | 2 |
| bisphenol F | affects cotreatment, decreases methylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | affects methylation, affects cotreatment | 1 |
| terbufos | increases methylation | 1 |
| benzo(e)pyrene | affects methylation | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Decitabine | affects expression | 1 |
| Fulvestrant | affects cotreatment, affects methylation, decreases methylation | 1 |
| Cisplatin | affects expression | 1 |
| Copper | affects cotreatment, decreases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Fonofos | increases methylation | 1 |
| Methapyrilene | affects methylation | 1 |
| Parathion | increases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Smoke | increases expression | 1 |
| 1-Naphthylamine | affects response to substance | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Asbestos, Serpentine | decreases methylation | 1 |
Clinical trials (associated diseases)
272 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 |
| NCT00417066 | PHASE4 | COMPLETED | Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders |
| NCT00732693 | PHASE4 | COMPLETED | Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure |
| NCT00837616 | PHASE4 | COMPLETED | Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism |
| NCT01853501 | PHASE4 | UNKNOWN | Effects of ADSC Therapy in Women With POF |
| NCT02783937 | PHASE4 | COMPLETED | Filgrastim for Premature Ovarian Insufficiency |
| NCT03535480 | PHASE4 | UNKNOWN | Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure |
| 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 |
| NCT00140998 | PHASE3 | COMPLETED | Estrogen Treatment (Oral vs. Patches) in Turner Syndrome |
| 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 |
| NCT00001951 | PHASE2 | COMPLETED | Hormone Replacement in Young Women With Premature Ovarian Failure |
| NCT00370019 | PHASE2 | WITHDRAWN | Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure |
| NCT00429494 | PHASE2 | COMPLETED | GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients |
| NCT03816852 | PHASE2 | SUSPENDED | The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency |
| NCT04536467 | PHASE2 | UNKNOWN | Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients |
| NCT06117982 | PHASE2 | COMPLETED | The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency |
| 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) |
| NCT02912104 | PHASE1 | COMPLETED | A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure |
| NCT03178695 | PHASE1 | COMPLETED | Inovium Ovarian Rejuvenation Trials |
| NCT04815213 | PHASE1 | ACTIVE_NOT_RECRUITING | The Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans |
| NCT05138367 | PHASE1 | COMPLETED | Effects of UCA-PSCs in Women With POF |
| NCT06132542 | PHASE1 | UNKNOWN | Autologous ADMSC Transplantation in Patients With POI |
| 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 |
Related Atlas pages
- Associated diseases: intellectual disability
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): androgenetic alopecia, anxiety disorder