MEA1
geneOn this page
Summary
MEA1 (male-enhanced antigen 1, HGNC:6986) is a protein-coding gene on chromosome 6p21.1, encoding Male-enhanced antigen 1 (Q16626). May play an important role in spermatogenesis and/or testis development.
Predicted to be involved in male gonad development and spermatogenesis. Predicted to be located in cytoplasm.
Source: NCBI Gene 4201 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 87 total — 2 pathogenic
- MANE Select transcript:
NM_014623
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6986 |
| Approved symbol | MEA1 |
| Name | male-enhanced antigen 1 |
| Location | 6p21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000124733 |
| Ensembl biotype | protein_coding |
| OMIM | 143170 |
| Entrez | 4201 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 6 protein_coding
ENST00000244711, ENST00000642555, ENST00000642748, ENST00000643776, ENST00000645375, ENST00000645410
RefSeq mRNA: 4 — MANE Select: NM_014623
NM_001318942, NM_001318943, NM_001363578, NM_014623
CCDS: CCDS4879, CCDS87405, CCDS87406
Canonical transcript exons
ENST00000244711 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000751517 | 43012926 | 43013028 |
| ENSE00000850034 | 43013115 | 43013389 |
| ENSE00000850035 | 43013786 | 43013946 |
| ENSE00003815401 | 43011143 | 43012621 |
Expression profiles
Bgee: expression breadth ubiquitous, 293 present calls, max score 99.18.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.3918 / max 199.4382, expressed in 1815 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 73655 | 15.0422 | 1812 |
| 73653 | 2.4868 | 1222 |
| 73654 | 0.8043 | 564 |
| 73659 | 0.0238 | 3 |
| 73656 | 0.0224 | 3 |
| 73658 | 0.0123 | 3 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 99.18 | gold quality |
| right testis | UBERON:0004534 | 99.11 | gold quality |
| adult organism | UBERON:0007023 | 98.16 | gold quality |
| testis | UBERON:0000473 | 98.15 | gold quality |
| sperm | CL:0000019 | 97.68 | gold quality |
| male germ cell | CL:0000015 | 97.66 | gold quality |
| parotid gland | UBERON:0001831 | 97.63 | gold quality |
| prefrontal cortex | UBERON:0000451 | 97.22 | gold quality |
| cingulate cortex | UBERON:0003027 | 97.01 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 96.97 | gold quality |
| right frontal lobe | UBERON:0002810 | 96.82 | gold quality |
| amygdala | UBERON:0001876 | 96.65 | gold quality |
| hypothalamus | UBERON:0001898 | 96.59 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 96.50 | gold quality |
| nucleus accumbens | UBERON:0001882 | 96.45 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 96.38 | gold quality |
| caudate nucleus | UBERON:0001873 | 96.37 | gold quality |
| putamen | UBERON:0001874 | 96.35 | gold quality |
| cranial nerve II | UBERON:0000941 | 96.31 | gold quality |
| frontal cortex | UBERON:0001870 | 96.29 | gold quality |
| neocortex | UBERON:0001950 | 96.26 | gold quality |
| popliteal artery | UBERON:0002250 | 96.22 | gold quality |
| tibial artery | UBERON:0007610 | 96.22 | gold quality |
| islet of Langerhans | UBERON:0000006 | 96.17 | gold quality |
| temporal lobe | UBERON:0001871 | 96.10 | gold quality |
| aorta | UBERON:0000947 | 96.04 | gold quality |
| left coronary artery | UBERON:0001626 | 96.04 | gold quality |
| coronary artery | UBERON:0001621 | 95.99 | gold quality |
| telencephalon | UBERON:0001893 | 95.97 | gold quality |
| forebrain | UBERON:0001890 | 95.96 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7037 | yes | 528.58 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
55 targeting MEA1, 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-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-12129 | 99.72 | 67.45 | 1311 |
| HSA-MIR-3714 | 99.71 | 70.74 | 2671 |
| HSA-MIR-3177-5P | 99.65 | 70.38 | 1174 |
| HSA-MIR-7844-5P | 99.55 | 68.56 | 1428 |
| HSA-MIR-6833-5P | 99.50 | 68.93 | 1161 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-4687-3P | 99.48 | 66.41 | 968 |
| HSA-MIR-4251 | 99.40 | 69.19 | 3363 |
| HSA-MIR-4427 | 99.34 | 70.33 | 1854 |
| HSA-MIR-3922-3P | 99.25 | 64.96 | 1136 |
| HSA-MIR-3176 | 99.25 | 64.35 | 954 |
| HSA-MIR-7974 | 99.24 | 65.48 | 1137 |
| HSA-MIR-593-3P | 99.22 | 67.28 | 1327 |
| HSA-MIR-8065 | 99.19 | 70.38 | 1289 |
| HSA-MIR-4426 | 99.17 | 66.74 | 1949 |
| HSA-MIR-146A-3P | 99.13 | 68.99 | 1881 |
| HSA-MIR-4796-3P | 99.08 | 68.38 | 1681 |
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mea1 | ENSDARG00000039820 |
| mus_musculus | Mea1 | ENSMUSG00000002768 |
| rattus_norvegicus | Mea1 | ENSRNOG00000017144 |
| drosophila_melanogaster | CG14341 | FBGN0031315 |
Protein
Protein identifiers
Male-enhanced antigen 1 — Q16626 (reviewed: Q16626)
All UniProt accessions (3): A0A2R8Y6W5, A0A2R8Y7W8, Q16626
UniProt curated annotations — full annotation on UniProt →
Function. May play an important role in spermatogenesis and/or testis development.
Tissue specificity. Highly expressed in testis.
RefSeq proteins (4): NP_001305871, NP_001305872, NP_001350507, NP_055438* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009685 | MEA1 | Family |
Pfam: PF06910
UniProt features (7 total): region of interest 2, compositionally biased region 2, chain 1, modified residue 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q16626-F1 | 64.76 | 0.06 |
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 (1): 114
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 164 (showing top):
TGCGCANK_UNKNOWN, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, GOBP_MALE_GAMETE_GENERATION, GGGTGGRR_PAX4_03, GGAMTNNNNNTCCY_UNKNOWN, YORDY_RECIPROCAL_REGULATION_BY_ETS1_AND_SP100_UP, GOBP_REPRODUCTIVE_SYSTEM_DEVELOPMENT, MORF_PPP5C, MORF_FANCG, GRE_C, HIF1_Q3, GATA1_03, GUO_HEX_TARGETS_DN
GO Biological Process (3): spermatogenesis (GO:0007283), male gonad development (GO:0008584), cell differentiation (GO:0030154)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (1): cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| gonad development | 1 |
| development of primary male sexual characteristics | 1 |
| cellular developmental process | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
804 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MEA1 | KLHDC3 | Q9BQ90 | 942 |
| MEA1 | PPP2R5D | Q14738 | 931 |
| MEA1 | GOLGA3 | Q08378 | 887 |
| MEA1 | SPATA16 | Q9BXB7 | 830 |
| MEA1 | KLHL1 | Q9NR64 | 761 |
| MEA1 | ZFY | P08048 | 716 |
| MEA1 | ZFX | P17010 | 649 |
| MEA1 | CUL7 | Q14999 | 495 |
| MEA1 | KLC4 | Q9NSK0 | 493 |
| MEA1 | SFI1 | A8K8P3 | 455 |
| MEA1 | PHKG2 | P11800 | 448 |
| MEA1 | ZMYND10 | O75800 | 442 |
| MEA1 | NUDCD3 | Q8IVD9 | 441 |
| MEA1 | SRY | Q05066 | 437 |
| MEA1 | SPATA4 | Q8NEY3 | 435 |
IntAct
21 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IFT25 | IFT56 | psi-mi:“MI:0914”(association) | 0.690 |
| MEA1 | AP1M1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| AP2B1 | MEA1 | psi-mi:“MI:0915”(physical association) | 0.630 |
| ECH1 | MCRIP1 | psi-mi:“MI:0914”(association) | 0.350 |
| ECI2 | PDLIM1 | psi-mi:“MI:0914”(association) | 0.350 |
| ECH1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| AP2M1 | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
| AP2B1 | SYNJ1 | psi-mi:“MI:0914”(association) | 0.350 |
| MEA1 | AP2A1 | psi-mi:“MI:0914”(association) | 0.350 |
| AP2M1 | PER1 | psi-mi:“MI:0914”(association) | 0.350 |
| AP2B1 | AP1G1 | psi-mi:“MI:0914”(association) | 0.350 |
| AP1M2 | AP1G1 | psi-mi:“MI:0914”(association) | 0.350 |
| MEA1 | RAD23A | psi-mi:“MI:0914”(association) | 0.350 |
| KRAS | IGKV2D-24 | psi-mi:“MI:0914”(association) | 0.350 |
| AP2M1 | CTNND1 | psi-mi:“MI:0914”(association) | 0.350 |
| AP1M1 | MEA1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| MDM2 | MEA1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (35): MEA1 (Affinity Capture-MS), MEA1 (Two-hybrid), MEA1 (Affinity Capture-Western), MEA1 (Affinity Capture-MS), MEA1 (Two-hybrid), MEA1 (Affinity Capture-MS), AP2M1 (Affinity Capture-MS), AP1M1 (Affinity Capture-MS), AP2A1 (Affinity Capture-MS), AP1B1 (Affinity Capture-MS), MEA1 (Affinity Capture-MS), RALGAPB (Affinity Capture-MS), ZER1 (Affinity Capture-MS), ARMCX3 (Affinity Capture-MS), MEA1 (Affinity Capture-MS)
ESM2 similar proteins: A0A804C8T0, A4ZNR4, A4ZNR5, B2RX88, F7C1E2, O00165, O08623, O35387, O70367, O75829, O77770, P17404, P25686, P58340, Q03157, Q08E24, Q13501, Q15773, Q16626, Q29407, Q2KIE2, Q32KY3, Q3UIL6, Q4R992, Q5R491, Q5R4T3, Q5RBA5, Q5XIA0, Q64337, Q6AYN2, Q6BEG7, Q6IQ23, Q6PAQ9, Q7TNY7, Q7TSE9, Q7Z5B4, Q8BK03, Q8BPM6, Q8K3I4, Q8NFW9
Diamond homologs: Q16626, Q29407, Q4R992, Q5FVH7, Q64327, Q95313
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 21 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 |
|---|---|---|---|
| Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters | 6 | 223.9× | 7e-12 |
| The role of Nef in HIV-1 replication and disease pathogenesis | 6 | 223.9× | 7e-12 |
| Host Interactions of HIV factors | 6 | 118.5× | 4e-10 |
| HIV Infection | 6 | 42.0× | 2e-07 |
| MHC class II antigen presentation | 6 | 31.5× | 8e-07 |
| Membrane Trafficking | 7 | 15.3× | 4e-06 |
| Vesicle-mediated transport | 7 | 14.3× | 5e-06 |
| Viral Infection Pathways | 6 | 10.9× | 1e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| synaptic vesicle endocytosis | 5 | 113.7× | 1e-07 |
| vesicle-mediated transport | 6 | 30.4× | 3e-06 |
| intracellular protein transport | 6 | 20.5× | 1e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
87 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 56 |
| Likely benign | 18 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 190286 | NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys) | Pathogenic |
| 2422814 | NC_000006.11:g.(?41126341)(43752536_?)del | Pathogenic |
SpliceAI
807 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:43011143:A:AG | acceptor_gain | 1.0000 |
| 6:43011144:C:G | acceptor_gain | 1.0000 |
| 6:43011144:CACA:C | acceptor_loss | 1.0000 |
| 6:43011145:A:AG | acceptor_gain | 1.0000 |
| 6:43011146:C:G | acceptor_gain | 1.0000 |
| 6:43011147:A:AG | acceptor_gain | 1.0000 |
| 6:43011147:AGA:A | acceptor_loss | 1.0000 |
| 6:43011147:AGAT:A | acceptor_gain | 1.0000 |
| 6:43011148:G:GA | acceptor_gain | 1.0000 |
| 6:43011148:GA:G | acceptor_gain | 1.0000 |
| 6:43011148:GAT:G | acceptor_gain | 1.0000 |
| 6:43011148:GATG:G | acceptor_gain | 1.0000 |
| 6:43011148:GATGC:G | acceptor_gain | 1.0000 |
| 6:43012920:TTTTA:T | donor_loss | 1.0000 |
| 6:43012921:TTTA:T | donor_loss | 1.0000 |
| 6:43012922:TTAC:T | donor_loss | 1.0000 |
| 6:43012923:TA:T | donor_loss | 1.0000 |
| 6:43012924:A:T | donor_loss | 1.0000 |
| 6:43012925:C:CA | donor_loss | 1.0000 |
| 6:43013029:C:CC | acceptor_gain | 1.0000 |
| 6:43013030:T:A | acceptor_loss | 1.0000 |
| 6:43013109:CCCTA:C | donor_loss | 1.0000 |
| 6:43013110:CCTA:C | donor_loss | 1.0000 |
| 6:43013111:CTACC:C | donor_loss | 1.0000 |
| 6:43013112:TA:T | donor_loss | 1.0000 |
| 6:43013114:CCTG:C | donor_loss | 1.0000 |
| 6:43013125:T:TA | donor_gain | 1.0000 |
| 6:43013176:T:TA | donor_gain | 1.0000 |
| 6:43012618:TGTT:T | acceptor_gain | 0.9900 |
| 6:43012622:C:CC | acceptor_gain | 0.9900 |
AlphaMissense
1197 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:43012527:C:A | W167C | 0.999 |
| 6:43012527:C:G | W167C | 0.999 |
| 6:43012529:A:G | W167R | 0.999 |
| 6:43012529:A:T | W167R | 0.999 |
| 6:43012554:C:A | W158C | 0.999 |
| 6:43012554:C:G | W158C | 0.999 |
| 6:43012556:A:G | W158R | 0.999 |
| 6:43012556:A:T | W158R | 0.999 |
| 6:43012528:C:G | W167S | 0.998 |
| 6:43012602:T:A | K142N | 0.997 |
| 6:43012602:T:G | K142N | 0.997 |
| 6:43012606:A:T | V141E | 0.997 |
| 6:43013210:A:G | Y70H | 0.997 |
| 6:43012552:G:T | A159D | 0.996 |
| 6:43012594:A:G | M145T | 0.996 |
| 6:43012609:A:G | L140P | 0.996 |
| 6:43013018:A:G | L105P | 0.996 |
| 6:43013012:A:G | L107S | 0.995 |
| 6:43013018:A:T | L105H | 0.995 |
| 6:43012555:C:G | W158S | 0.994 |
| 6:43012593:C:A | M145I | 0.994 |
| 6:43012593:C:G | M145I | 0.994 |
| 6:43012593:C:T | M145I | 0.994 |
| 6:43012594:A:C | M145R | 0.994 |
| 6:43013210:A:C | Y70D | 0.994 |
| 6:43012594:A:T | M145K | 0.993 |
| 6:43013210:A:T | Y70N | 0.992 |
| 6:43012933:C:A | M133I | 0.991 |
| 6:43012933:C:G | M133I | 0.991 |
| 6:43012933:C:T | M133I | 0.991 |
dbSNP variants (sampled 300 via entrez): RS1000201066 (6:43015228 C>T), RS1001039061 (6:43013797 T>A), RS1001151588 (6:43013978 A>C,G), RS1001268356 (6:43014282 C>T), RS1002256055 (6:43017173 T>C), RS1003230003 (6:43015408 AG>A), RS1003259398 (6:43015942 T>TG), RS1003560736 (6:43016394 T>G), RS1003570995 (6:43011096 G>A,C,T), RS1003611761 (6:43016047 T>A), RS1005103724 (6:43016740 G>C), RS1005567443 (6:43016504 A>G), RS1005910290 (6:43012020 G>C), RS1006522764 (6:43018539 G>A), RS1006854541 (6:43014883 A>G)
Disease associations
OMIM: gene MIM:143170 | disease phenotypes: MIM:616355, MIM:214100
GenCC curated gene-disease
Mondo (3): Houge-Janssens syndrome 1 (MONDO:0014602), intellectual disability (MONDO:0001071), peroxisome biogenesis disorder (MONDO:0019234)
Orphanet (3): Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (Orphanet:457279), Peroxisome biogenesis disorder (Orphanet:79189), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
| C536664 | Peroxisome biogenesis disorders (supp.) | |
| C531857 | Zellweger leukodystrophy (supp.) |
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 |
|---|---|---|
| aristolochic acid I | decreases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| jinfukang | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation | 1 |
| Atrazine | increases expression | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Manganese | increases abundance, increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Ozone | increases oxidation, increases abundance, affects cotreatment | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Volatile Organic Compounds | affects cotreatment, increases oxidation | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3AY | Abcam HEK293T MEA1 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
202 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 |
| NCT01838941 | PHASE3 | COMPLETED | Betaine and Peroxisome Biogenesis Disorders |
| 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 |
| NCT03856866 | PHASE2 | COMPLETED | Hydroxychloroquine Administration for Reduction of Pexophagy |
| 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 |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Houge-Janssens syndrome 1, peroxisome biogenesis disorder