MAP7D3
gene geneOn this page
Also known as FLJ12649
Summary
MAP7D3 (MAP7 domain containing 3, HGNC:25742) is a protein-coding gene on chromosome Xq26.3, encoding MAP7 domain-containing protein 3 (Q8IWC1). Promotes the assembly and stability of microtubules.
The protein encoded by this gene belongs to the MAP7 (microtubule-associated protein 7) family. Alternatively spliced transcript variants encoding different isoforms have been found.
Source: NCBI Gene 79649 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder (Limited, GenCC)
- Clinical variants (ClinVar): 244 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_024597
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25742 |
| Approved symbol | MAP7D3 |
| Name | MAP7 domain containing 3 |
| Location | Xq26.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ12649 |
| Ensembl gene | ENSG00000129680 |
| Ensembl biotype | protein_coding |
| OMIM | 300930 |
| Entrez | 79649 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 11 protein_coding, 4 protein_coding_CDS_not_defined
ENST00000316077, ENST00000370660, ENST00000370661, ENST00000370663, ENST00000471510, ENST00000477124, ENST00000489788, ENST00000495432, ENST00000937863, ENST00000937864, ENST00000937865, ENST00000937866, ENST00000937867, ENST00000945657, ENST00000945658
RefSeq mRNA: 3 — MANE Select: NM_024597
NM_001173516, NM_001173517, NM_024597
CCDS: CCDS44004, CCDS55508, CCDS55509
Canonical transcript exons
ENST00000316077 — 19 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000676989 | 136230839 | 136230966 |
| ENSE00000676990 | 136231544 | 136232220 |
| ENSE00000676991 | 136236244 | 136236339 |
| ENSE00000676992 | 136240382 | 136240486 |
| ENSE00001325984 | 136241160 | 136241277 |
| ENSE00001641055 | 136246243 | 136246341 |
| ENSE00001657381 | 136246065 | 136246148 |
| ENSE00001675663 | 136244632 | 136244795 |
| ENSE00001736798 | 136220765 | 136220963 |
| ENSE00001923781 | 136216814 | 136218493 |
| ENSE00001934656 | 136251289 | 136251400 |
| ENSE00002231103 | 136228623 | 136228758 |
| ENSE00003511655 | 136225909 | 136226013 |
| ENSE00003598654 | 136227284 | 136227431 |
| ENSE00003605177 | 136230385 | 136230593 |
| ENSE00003618531 | 136219593 | 136219671 |
| ENSE00003620963 | 136224827 | 136224880 |
| ENSE00003623722 | 136219398 | 136219495 |
| ENSE00003638306 | 136222393 | 136222486 |
Expression profiles
Bgee: expression breadth ubiquitous, 203 present calls, max score 98.12.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.0546 / max 519.4903, expressed in 1765 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 200638 | 19.1738 | 1763 |
| 200639 | 0.4999 | 225 |
| 200637 | 0.3299 | 148 |
| 200645 | 0.0212 | 7 |
| 200642 | 0.0123 | 2 |
| 200643 | 0.0102 | 5 |
| 200641 | 0.0036 | 1 |
| 200644 | 0.0024 | 1 |
| 200640 | 0.0012 | 1 |
Top tissues by expression
266 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 98.12 | gold quality |
| tendon | UBERON:0000043 | 94.27 | gold quality |
| popliteal artery | UBERON:0002250 | 92.38 | gold quality |
| tibial artery | UBERON:0007610 | 92.38 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 91.62 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.16 | gold quality |
| aorta | UBERON:0000947 | 90.20 | gold quality |
| right ovary | UBERON:0002118 | 89.77 | gold quality |
| sural nerve | UBERON:0015488 | 89.52 | gold quality |
| right coronary artery | UBERON:0001625 | 89.38 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 88.43 | gold quality |
| left ovary | UBERON:0002119 | 88.22 | gold quality |
| left coronary artery | UBERON:0001626 | 88.04 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 87.77 | gold quality |
| thoracic aorta | UBERON:0001515 | 87.74 | gold quality |
| ascending aorta | UBERON:0001496 | 87.65 | gold quality |
| mucosa of stomach | UBERON:0001199 | 87.55 | gold quality |
| left testis | UBERON:0004533 | 87.47 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 87.21 | gold quality |
| omental fat pad | UBERON:0010414 | 87.04 | gold quality |
| peritoneum | UBERON:0002358 | 86.96 | gold quality |
| right testis | UBERON:0004534 | 86.91 | gold quality |
| coronary artery | UBERON:0001621 | 86.74 | gold quality |
| left uterine tube | UBERON:0001303 | 86.61 | gold quality |
| testis | UBERON:0000473 | 86.32 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 86.29 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 86.16 | gold quality |
| lower esophagus | UBERON:0013473 | 86.08 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 86.02 | gold quality |
| colonic epithelium | UBERON:0000397 | 85.41 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.81 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
77 targeting MAP7D3, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-219A-5P | 99.91 | 73.36 | 735 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-4782-3P | 99.88 | 73.31 | 735 |
| HSA-MIR-6766-3P | 99.88 | 73.38 | 732 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-8076 | 99.78 | 68.52 | 1170 |
| HSA-MIR-26A-5P | 99.78 | 73.52 | 2303 |
| HSA-MIR-26B-5P | 99.78 | 73.51 | 2305 |
| HSA-MIR-4766-5P | 99.75 | 69.23 | 2662 |
| HSA-MIR-4422 | 99.72 | 72.07 | 2908 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-26A-1-3P | 99.64 | 66.81 | 788 |
| HSA-MIR-26A-2-3P | 99.64 | 66.82 | 786 |
Literature-anchored findings (GeneRIF, showing 6)
- Mdp3 is a novel microtubule-binding protein that regulates microtubule assembly and stability. (PMID:22142902)
- the amino-terminal region mediated the interaction of Mdp3 with histone deacetylase 6 (HDAC6), in addition to its association with tubulin and microtubules. (PMID:24614595)
- Results have identified a new microtubule binding region in MAP7D3, formed by the conserved MAP7 domain and the C-terminal tail, which can bind to microtubules and promote their assembly and stability. (PMID:24927501)
- A critical role for Mdp3 in the growth and metastasis of breast cancer. (PMID:25161703)
- Mdp3 (also known as MAP7D3) forms a complex with DDA3 (also known as PSRC1) and controls spindle dynamics at the minus end of Microtubuless by inhibiting DDA3-mediated Kif2a recruitment to the spindle. (PMID:27284004)
- MAP7 proteins are microtubule-tethered kinesin-1 activators, with which the motor transiently interacts as it moves along microtubules. (PMID:30770434)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | map7d3 | ENSDARG00000060771 |
| mus_musculus | Map7d3 | ENSMUSG00000067878 |
| rattus_norvegicus | Map7d3 | ENSRNOG00000027831 |
| drosophila_melanogaster | ens | FBGN0264693 |
Paralogs (3): MAP7D1 (ENSG00000116871), MAP7 (ENSG00000135525), MAP7D2 (ENSG00000184368)
Protein
Protein identifiers
MAP7 domain-containing protein 3 — Q8IWC1 (reviewed: Q8IWC1)
All UniProt accessions (2): Q8IWC1, A0A0A0MRP0
UniProt curated annotations — full annotation on UniProt →
Function. Promotes the assembly and stability of microtubules.
Subunit / interactions. Interacts (via N-terminus coiled coil domains) with tubulin and microtubules.
Subcellular location. Cytoplasm. Cytoskeleton. Spindle.
Induction. Expression is cell cycle dependent with the highest levels during G1, S, and M phases, and low level in G2 phase.
Similarity. Belongs to the MAP7 family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8IWC1-1 | 1 | yes |
| Q8IWC1-2 | 2 | |
| Q8IWC1-3 | 3 | |
| Q8IWC1-4 | 4 |
RefSeq proteins (3): NP_001166987, NP_001166988, NP_078873* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008604 | MAP7_fam | Family |
| IPR051483 | MAP7_domain-containing | Family |
Pfam: PF05672
UniProt features (45 total): compositionally biased region 13, modified residue 11, region of interest 7, sequence conflict 4, coiled-coil region 3, splice variant 3, sequence variant 3, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IWC1-F1 | 56.22 | 0.12 |
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 (11): 1, 185, 322, 441, 457, 461, 490, 524, 770, 817, 832
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 90 (showing top):
MODULE_511, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN, MARTINEZ_RESPONSE_TO_TRABECTEDIN_DN, GOBP_MICROTUBULE_POLYMERIZATION, GOCC_SPINDLE, GOMF_CYTOSKELETAL_PROTEIN_BINDING, FIGUEROA_AML_METHYLATION_CLUSTER_1_UP, FIGUEROA_AML_METHYLATION_CLUSTER_2_UP, FIGUEROA_AML_METHYLATION_CLUSTER_3_UP, FIGUEROA_AML_METHYLATION_CLUSTER_4_UP, FIGUEROA_AML_METHYLATION_CLUSTER_6_UP, FIGUEROA_AML_METHYLATION_CLUSTER_7_UP, chrXq26, MIYAGAWA_TARGETS_OF_EWSR1_ETS_FUSIONS_UP, GOBP_MICROTUBULE_CYTOSKELETON_ORGANIZATION
GO Biological Process (2): microtubule cytoskeleton organization (GO:0000226), microtubule polymerization (GO:0046785)
GO Molecular Function (2): microtubule binding (GO:0008017), tubulin binding (GO:0015631)
GO Cellular Component (5): spindle (GO:0005819), microtubule cytoskeleton (GO:0015630), membrane (GO:0016020), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular membraneless organelle | 2 |
| cellular anatomical structure | 2 |
| cytoskeleton organization | 1 |
| microtubule-based process | 1 |
| microtubule nucleation | 1 |
| microtubule polymerization or depolymerization | 1 |
| protein polymerization | 1 |
| supramolecular fiber organization | 1 |
| tubulin binding | 1 |
| cytoskeletal protein binding | 1 |
| microtubule cytoskeleton | 1 |
| cytoskeleton | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1126 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MAP7D3 | FAM47B | Q8NA70 | 524 |
| MAP7D3 | SATL1 | Q86VE3 | 517 |
| MAP7D3 | NOC3L | Q8WTT2 | 476 |
| MAP7D3 | ARSF | P54793 | 450 |
| MAP7D3 | MARCHF9 | Q86YJ5 | 424 |
| MAP7D3 | MAPRE3 | Q9UPY8 | 419 |
| MAP7D3 | C6orf118 | Q5T5N4 | 418 |
| MAP7D3 | MAP9 | Q49MG5 | 407 |
| MAP7D3 | DHX36 | Q9H2U1 | 405 |
| MAP7D3 | RAB3C | Q96E17 | 397 |
| MAP7D3 | GPR149 | Q86SP6 | 396 |
| MAP7D3 | NECAP2 | Q9NVZ3 | 393 |
| MAP7D3 | KIF5C | O60282 | 392 |
| MAP7D3 | TRIM46 | Q7Z4K8 | 391 |
| MAP7D3 | INTS6L | Q5JSJ4 | 375 |
IntAct
99 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED4 | MED19 | psi-mi:“MI:2364”(proximity) | 0.900 |
| CHCHD4 | SSNA1 | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAG | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAG | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.640 |
| YWHAB | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.610 |
| YWHAH | BLTP3B | psi-mi:“MI:0914”(association) | 0.570 |
| YWHAH | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.570 |
| CEP104 | CCDC66 | psi-mi:“MI:2364”(proximity) | 0.540 |
| TUBB3 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| PNMA2 | CCDC85C | psi-mi:“MI:0914”(association) | 0.530 |
| CBY1 | CFAP410 | psi-mi:“MI:0914”(association) | 0.510 |
| KIAA0753 | OFD1 | psi-mi:“MI:2364”(proximity) | 0.480 |
| GSK3B | SEC16A | psi-mi:“MI:2364”(proximity) | 0.420 |
| MAP7D3 | RPS10 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MAP7D3 | HNRNPM | psi-mi:“MI:0915”(physical association) | 0.400 |
| Calml3 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| RBPJ | SAMD1 | psi-mi:“MI:0914”(association) | 0.350 |
| RBPJ | RPA2 | psi-mi:“MI:0914”(association) | 0.350 |
| TUBA1A | CAPZB | psi-mi:“MI:0914”(association) | 0.350 |
| TUBA1A | KIF2A | psi-mi:“MI:0914”(association) | 0.350 |
| RIPK4 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| PB2 | PIK3R2 | psi-mi:“MI:0914”(association) | 0.350 |
| PB1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CHCHD4 | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAQ | MCRIP1 | psi-mi:“MI:0914”(association) | 0.350 |
| CBX5 | ZNF568 | psi-mi:“MI:0914”(association) | 0.350 |
| CALM2 | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| CALM3 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAG | FOXO6 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (171): MAP7D3 (Affinity Capture-MS), MAP7D3 (Affinity Capture-MS), MAP7D3 (Affinity Capture-MS), MAP7D3 (Proximity Label-MS), MAP7D3 (Proximity Label-MS), MAP7D3 (Proximity Label-MS), MAP7D3 (Proximity Label-MS), MAP7D3 (Proximity Label-MS), MAP7D3 (Proximity Label-MS), MAP7D3 (Proximity Label-MS), MAP7D3 (Proximity Label-MS), MAP7D3 (Proximity Label-MS), MAP7D3 (Proximity Label-MS), MAP7D3 (Proximity Label-MS), MAP7D3 (Proximity Label-MS)
ESM2 similar proteins: A0A2K1J5A5, A0A2K1JJ00, A1Z7A8, A2AEY4, A2AWL7, A6NCI8, B4IH30, B4P8I0, E9PVX6, E9Q309, O14513, O43303, O60284, O94243, P40167, P46013, P51954, Q10668, Q11114, Q3ZBP0, Q498L0, Q4QY64, Q4V7J0, Q5BI31, Q5SW79, Q5VT06, Q66H17, Q69Z38, Q6A065, Q6AXY9, Q7SZL5, Q7TSH4, Q80TY4, Q80YD3, Q86UF4, Q86V48, Q8IWC1, Q8IWI9, Q8L7I1, Q8R4U7
Diamond homologs: A2AEY4, Q8IWC1
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 122 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 |
|---|---|---|---|
| Activation of BAD and translocation to mitochondria | 7 | 70.1× | 2e-10 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 7 | 61.9× | 4e-10 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 7 | 61.9× | 4e-10 |
| Activation of BH3-only proteins | 7 | 45.7× | 4e-09 |
| RHO GTPases activate PKNs | 7 | 29.2× | 1e-07 |
| Loss of Nlp from mitotic centrosomes | 13 | 27.1× | 2e-13 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 13 | 27.1× | 2e-13 |
| Intrinsic Pathway for Apoptosis | 7 | 27.0× | 2e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| substantia nigra development | 7 | 23.1× | 4e-06 |
| regulation of cytokinesis | 6 | 22.8× | 4e-05 |
| centrosome cycle | 6 | 18.2× | 1e-04 |
| protein targeting | 5 | 16.5× | 1e-03 |
| intracellular protein localization | 14 | 13.2× | 2e-09 |
| long-term synaptic potentiation | 5 | 12.7× | 2e-03 |
| cilium assembly | 11 | 7.3× | 5e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
244 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 99 |
| Likely benign | 20 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2365 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:136219391:GACTT:G | donor_loss | 1.0000 |
| X:136219392:ACTT:A | donor_loss | 1.0000 |
| X:136219393:CTTA:C | donor_loss | 1.0000 |
| X:136219394:TTAC:T | donor_loss | 1.0000 |
| X:136219395:TAC:T | donor_loss | 1.0000 |
| X:136219396:A:AC | donor_gain | 1.0000 |
| X:136219396:AC:A | donor_gain | 1.0000 |
| X:136219396:ACCC:A | donor_loss | 1.0000 |
| X:136219397:C:CC | donor_gain | 1.0000 |
| X:136219397:CC:C | donor_gain | 1.0000 |
| X:136220960:ATGG:A | acceptor_gain | 1.0000 |
| X:136220961:TGG:T | acceptor_gain | 1.0000 |
| X:136220964:C:CC | acceptor_gain | 1.0000 |
| X:136222388:CTAA:C | donor_loss | 1.0000 |
| X:136222390:AACC:A | donor_loss | 1.0000 |
| X:136222391:ACCTG:A | donor_loss | 1.0000 |
| X:136222482:GTGAC:G | acceptor_gain | 1.0000 |
| X:136222483:TGAC:T | acceptor_gain | 1.0000 |
| X:136222484:GAC:G | acceptor_gain | 1.0000 |
| X:136222485:AC:A | acceptor_gain | 1.0000 |
| X:136222486:CC:C | acceptor_gain | 1.0000 |
| X:136222487:C:CC | acceptor_gain | 1.0000 |
| X:136222490:CGAT:C | acceptor_gain | 1.0000 |
| X:136222493:T:C | acceptor_gain | 1.0000 |
| X:136222493:T:TC | acceptor_gain | 1.0000 |
| X:136226010:CTTT:C | acceptor_gain | 1.0000 |
| X:136227254:ATCC:A | donor_gain | 1.0000 |
| X:136227280:AAAC:A | donor_loss | 1.0000 |
| X:136227281:AACC:A | donor_loss | 1.0000 |
| X:136227282:ACC:A | donor_loss | 1.0000 |
AlphaMissense
5790 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:136224878:T:A | R714S | 0.997 |
| X:136224878:T:G | R714S | 0.997 |
| X:136225915:C:A | R711S | 0.997 |
| X:136225915:C:G | R711S | 0.997 |
| X:136244681:C:G | R123P | 0.996 |
| X:136224867:A:C | I718S | 0.995 |
| X:136224867:A:G | I718T | 0.995 |
| X:136225925:C:G | R708P | 0.995 |
| X:136246094:C:G | R75P | 0.995 |
| X:136225912:T:A | K712N | 0.994 |
| X:136225912:T:G | K712N | 0.994 |
| X:136224863:C:A | M719I | 0.991 |
| X:136224863:C:G | M719I | 0.991 |
| X:136224863:C:T | M719I | 0.991 |
| X:136225913:T:A | K712I | 0.991 |
| X:136224858:C:G | R721P | 0.990 |
| X:136225916:C:A | R711M | 0.990 |
| X:136225916:C:G | R711T | 0.990 |
| X:136224879:C:G | R714T | 0.987 |
| X:136244702:C:G | R116P | 0.986 |
| X:136244670:C:G | A127P | 0.984 |
| X:136224880:T:C | R714G | 0.982 |
| X:136241265:C:G | A144P | 0.982 |
| X:136246333:C:G | A27P | 0.982 |
| X:136225970:C:G | R693P | 0.981 |
| X:136228690:G:T | R607S | 0.981 |
| X:136241240:C:G | R152P | 0.981 |
| X:136225914:T:C | K712E | 0.980 |
| X:136225940:T:G | Q703P | 0.980 |
| X:136244711:A:G | L113P | 0.980 |
dbSNP variants (sampled 300 via entrez): RS1000053954 (X:136222648 C>T), RS1000086069 (X:136236799 T>A,C), RS1000157967 (X:136221616 C>T), RS1000224291 (X:136249801 G>A), RS1000276577 (X:136248171 G>A,T), RS1000414876 (X:136240123 C>T), RS1000507485 (X:136222102 C>T), RS1000518635 (X:136232874 C>A,T), RS1000831944 (X:136234045 G>C), RS1000879491 (X:136233715 T>A), RS1000999865 (X:136215325 G>A), RS1001110027 (X:136224680 A>G), RS1001252299 (X:136239733 A>C), RS1001304371 (X:136235065 G>A), RS1001426306 (X:136231243 G>A)
Disease associations
OMIM: gene MIM:300930 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodevelopmental disorder | Limited | X-linked |
Mondo (1): neurodevelopmental disorder (MONDO:0700092)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5724641 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.55 | IC50 | 280 | nM | MOLIBRESIB |
PubChem BioAssay actives
1 with measured affinity, of 6 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2178825: Inhibition of MAP7D3 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | ic50 | 0.2800 | uM |
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases reaction, decreases expression, increases abundance, affects binding | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| 2,3,5-(triglutathion-S-yl)hydroquinone | increases ADP-ribosylation | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Estradiol | increases expression | 1 |
| Lead | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Perfume | increases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Sodium Selenite | increases expression | 1 |
ChEMBL screening assays
6 unique, capped per target: 6 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5697555 | Binding | Inhibition of MAP7D3 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature |
Clinical trials (associated diseases)
202 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | PHASE1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT01783041 | PHASE2/PHASE3 | COMPLETED | Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants |
| NCT05767385 | PHASE2/PHASE3 | RECRUITING | Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior |
| NCT05675098 | EARLY_PHASE1 | NOT_YET_RECRUITING | Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy |
| NCT00783783 | Not specified | COMPLETED | CYP2D6 Pharmacogenetics in Risperidone-Treated Children |
| NCT01778504 | Not specified | RECRUITING | Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders |
| NCT01850784 | Not specified | UNKNOWN | High Energy Formula Feeding in Infants With Congenital Heart Disease |
| NCT01922791 | Not specified | COMPLETED | Nutrition and Pregnancy Intervention Study |
| NCT01942525 | Not specified | UNKNOWN | Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants |
| NCT02003170 | Not specified | COMPLETED | Etiology and Early Diagnosis of Neurodevelopmental Disorders |
| NCT02118649 | Not specified | ACTIVE_NOT_RECRUITING | Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game |
| NCT02557191 | Not specified | TERMINATED | Biomarkers, Neurodevelopment and Preterm Infants |
| NCT02690675 | Not specified | COMPLETED | Iron Supplement Effect on Child Development |
| NCT02694003 | Not specified | COMPLETED | Better Nights, Better Days for Children With Neurodevelopment Disorders |
| NCT02792894 | Not specified | COMPLETED | Family Networks (FaNs) for Children With Developmental Disorders and Delays |
| NCT02871674 | Not specified | UNKNOWN | Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial |
| NCT02887157 | Not specified | COMPLETED | Analyzing Retinal Microanatomy in ROP |
| NCT02898298 | Not specified | COMPLETED | Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder |
| NCT02912780 | Not specified | UNKNOWN | Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit |
| NCT03023293 | Not specified | COMPLETED | n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum |
| NCT03023644 | Not specified | COMPLETED | Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study |
| NCT03032991 | Not specified | UNKNOWN | Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers |
| NCT03088189 | Not specified | TERMINATED | Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring |
| NCT03096028 | Not specified | COMPLETED | Developmental Origins of Mental Health Disorders |
| NCT03148782 | Not specified | COMPLETED | Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase |
| NCT03172104 | Not specified | COMPLETED | Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age |
| NCT03222375 | Not specified | RECRUITING | SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism |
| NCT03229928 | Not specified | COMPLETED | Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge |
| NCT03232489 | Not specified | UNKNOWN | Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice |
Related Atlas pages
- Associated diseases: neurodevelopmental disorder