MAP1A
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Summary
MAP1A (microtubule associated protein 1A, HGNC:6835) is a protein-coding gene on chromosome 15q15.3, encoding Microtubule-associated protein 1A (P78559). Structural protein involved in the filamentous cross-bridging between microtubules and other skeletal elements.
This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development.
Source: NCBI Gene 4130 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 427 total — 1 pathogenic
- MANE Select transcript:
NM_002373
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6835 |
| Approved symbol | MAP1A |
| Name | microtubule associated protein 1A |
| Location | 15q15.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000166963 |
| Ensembl biotype | protein_coding |
| OMIM | 600178 |
| Entrez | 4130 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000300231, ENST00000382031
RefSeq mRNA: 2 — MANE Select: NM_002373
NM_001411089, NM_002373
CCDS: CCDS42031, CCDS91988
Canonical transcript exons
ENST00000300231 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001490692 | 43529650 | 43529870 |
| ENSE00001866540 | 43517608 | 43517700 |
| ENSE00003479753 | 43520972 | 43521112 |
| ENSE00003514716 | 43520641 | 43520723 |
| ENSE00003638356 | 43521324 | 43529508 |
| ENSE00003845131 | 43530069 | 43531611 |
Expression profiles
Bgee: expression breadth ubiquitous, 268 present calls, max score 99.89.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 87.1103 / max 7381.2848, expressed in 1538 samples.
FANTOM5 promoters (24 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 146306 | 59.0007 | 1266 |
| 146302 | 8.1973 | 768 |
| 146304 | 5.6877 | 825 |
| 146330 | 3.1113 | 457 |
| 146332 | 2.0493 | 311 |
| 146315 | 1.3622 | 258 |
| 146311 | 1.3514 | 154 |
| 146313 | 1.1941 | 199 |
| 146305 | 0.8452 | 383 |
| 146331 | 0.6874 | 102 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lateral nuclear group of thalamus | UBERON:0002736 | 99.89 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 99.73 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 99.73 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 99.70 | gold quality |
| parietal lobe | UBERON:0001872 | 99.68 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 99.68 | gold quality |
| postcentral gyrus | UBERON:0002581 | 99.68 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 99.64 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 99.49 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 99.46 | gold quality |
| pons | UBERON:0000988 | 99.43 | gold quality |
| entorhinal cortex | UBERON:0002728 | 99.40 | gold quality |
| medulla oblongata | UBERON:0001896 | 99.34 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 99.34 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 99.30 | gold quality |
| frontal pole | UBERON:0002795 | 99.30 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 99.29 | gold quality |
| ventral tegmental area | UBERON:0002691 | 99.24 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 99.22 | gold quality |
| inferior olivary complex | UBERON:0002127 | 99.21 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 99.20 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 99.11 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 99.02 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 98.91 | gold quality |
| cerebellar vermis | UBERON:0004720 | 98.53 | gold quality |
| occipital lobe | UBERON:0002021 | 98.52 | gold quality |
| paraflocculus | UBERON:0005351 | 98.51 | gold quality |
| frontal cortex | UBERON:0001870 | 98.48 | gold quality |
| frontal lobe | UBERON:0016525 | 98.48 | gold quality |
| prefrontal cortex | UBERON:0000451 | 98.39 | gold quality |
Single-cell (SCXA)
Detected in 8 experiment(s), a significant marker in 8.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-13 | yes | 28.03 |
| E-HCAD-1 | yes | 17.41 |
| E-CURD-122 | yes | 14.81 |
| E-CURD-112 | yes | 14.20 |
| E-MTAB-8498 | yes | 13.57 |
| E-MTAB-9467 | yes | 13.32 |
| E-MTAB-9067 | yes | 11.57 |
| E-ANND-3 | yes | 8.92 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
154 targeting MAP1A, 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-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| 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-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
Literature-anchored findings (GeneRIF, showing 10)
- Data show that two regulatory factor for X box (RFX1 and 3) binding sites in exon1 of both the mouse and human microtubule-associated protein (MAP1A) gene are important for effective transcriptional repression in non-neuronal cells. (PMID:12411430)
- a novel protein-binding partner for EPAC1 and EPAC2, light chain 2 of MAP1A (microtubule-associated protein 1A) (PMID:15202935)
- MAP1A LC2 is a biological enhancer of EPAC1 activity toward Rap1 and associated downstream signaling mechanisms (PMID:15591041)
- Complexes (MAP1B heavy chain-MAP1A light chain) form through interaction of homologous domains conserved in heavy and light chains of MAP1A and MAP1B. Conserved domains of the MAP1A and MAP1B light chains account for formation of light chain heterodimers. (PMID:16996626)
- postulate that the RhoB and MAP1A/LC2 interactions facilitate endocytic vesicle trafficking and regulate the trafficking of signaling molecules (PMID:18056259)
- Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia. (PMID:19165527)
- This protein has been found differentially expressed in thalami from patients with schizophrenia. (PMID:20471030)
- results support a role for MAP1 proteins in promoting efficient retrograde trafficking of HIV-1 by stimulating the formation of stable microtubules and mediating the association of HIV-1 cores with microtubules. (PMID:25505242)
- MAP1A functions to maintain the neuronal microtubule network in the brain and mutations cause Purkinje cell degeneration. (PMID:25788676)
- analysis across Autism Spectrum Disorder and Attention Defecit Hyperactivity Disorder, identifyies microtubule-associated protein 1A (MAP1A) as a new exome-wide significant gene conferring risk for childhood psychiatric disorders. (PMID:31768057)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | map1ab | ENSDARG00000022045 |
| danio_rerio | map1aa | ENSDARG00000059601 |
| mus_musculus | Map1a | ENSMUSG00000027254 |
| rattus_norvegicus | Map1a | ENSRNOG00000014230 |
Paralogs (2): MAP1S (ENSG00000130479), MAP1B (ENSG00000131711)
Protein
Protein identifiers
Microtubule-associated protein 1A — P78559 (reviewed: P78559)
Alternative names: Proliferation-related protein p80
All UniProt accessions (2): P78559, E9PGC8
UniProt curated annotations — full annotation on UniProt →
Function. Structural protein involved in the filamentous cross-bridging between microtubules and other skeletal elements.
Subunit / interactions. 3 different light chains, LC1 (a cleavage product of MAP1B), LC2 (a cleavage product of MAP1A) and LC3 (produced by one of the MAP1LC3 genes), can associate with the MAP1A or MAP1B heavy chains. Interacts with TIAM2. Interacts with guanylate kinase-like domain of DLG1, DLG2 and DLG4. Binds to CSNK1D. Interacts with ELAVL4.
Subcellular location. Cytoplasm. Cytoskeleton.
Tissue specificity. Brain.
Post-translational modifications. Phosphorylated by CSNK1D. LC2 is generated from MAP1A by proteolytic processing.
Domain organisation. The basic region containing the repeats may be responsible for the binding of MAP1A to microtubules.
Similarity. Belongs to the MAP1 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P78559-1 | 1 | yes |
| P78559-2 | 2 |
RefSeq proteins (2): NP_001398018, NP_002364* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026074 | MAP1 | Family |
| IPR036866 | RibonucZ/Hydroxyglut_hydro | Homologous_superfamily |
| IPR057480 | MAP1A/B/S-like_MBL | Domain |
Pfam: PF25281
UniProt features (191 total): modified residue 75, sequence conflict 33, compositionally biased region 32, sequence variant 27, region of interest 11, repeat 9, chain 3, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
No AlphaFold model available for P78559 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.
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 (75): 1329, 1544, 1600, 1626, 1654, 1675, 1749, 1762, 1776, 1791, 1797, 1801, 1812, 1818, 1931, 1957, 2022, 2058, 2074, 2104 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 331 (showing top):
VALK_AML_WITH_FLT3_ITD, GOBP_DENDRITE_DEVELOPMENT, GOBP_MEMORY, RNGTGGGC_UNKNOWN, GOBP_PROTEIN_LOCALIZATION_TO_CYTOSKELETON, GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, GOBP_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS, GOBP_COGNITION, GOBP_AXO_DENDRITIC_TRANSPORT, MYOGENIN_Q6, GOBP_BEHAVIOR, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GCANCTGNY_MYOD_Q6, SP3_Q3
GO Biological Process (17): microtubule cytoskeleton organization (GO:0000226), axonogenesis (GO:0007409), memory (GO:0007613), associative learning (GO:0008306), dendrite development (GO:0016358), regulation of microtubule depolymerization (GO:0031114), negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435), regulation of synaptic plasticity (GO:0048167), voluntary musculoskeletal movement (GO:0050882), neuron cellular homeostasis (GO:0070050), anterograde axonal protein transport (GO:0099641), retrograde axonal protein transport (GO:0099642), negative regulation of protein localization to microtubule (GO:1902817), positive regulation of protein localization (GO:1903829), neuron projection maintenance (GO:1990535), positive regulation of protein localization to cell surface (GO:2000010), nervous system development (GO:0007399)
GO Molecular Function (7): actin binding (GO:0003779), structural molecule activity (GO:0005198), microtubule binding (GO:0008017), cytoskeletal adaptor activity (GO:0008093), tubulin binding (GO:0015631), tau protein binding (GO:0048156), protein binding (GO:0005515)
GO Cellular Component (16): cytoplasm (GO:0005737), cytosol (GO:0005829), microtubule (GO:0005874), microtubule associated complex (GO:0005875), axon (GO:0030424), dendrite (GO:0030425), neuron projection (GO:0043005), neuronal cell body (GO:0043025), axon initial segment (GO:0043194), dendritic shaft (GO:0043198), dendritic branch (GO:0044307), synapse (GO:0045202), primary dendrite (GO:0150001), dendritic microtubule (GO:1901588), axon cytoplasm (GO:1904115), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoskeletal protein binding | 4 |
| cellular anatomical structure | 4 |
| dendrite | 4 |
| axo-dendritic protein transport | 2 |
| microtubule cytoskeleton | 2 |
| neuron projection | 2 |
| cytoskeleton organization | 1 |
| microtubule-based process | 1 |
| cell morphogenesis involved in neuron differentiation | 1 |
| neuron projection morphogenesis | 1 |
| axon development | 1 |
| learning or memory | 1 |
| learning | 1 |
| neuron projection development | 1 |
| anatomical structure development | 1 |
| microtubule depolymerization | 1 |
| regulation of microtubule polymerization or depolymerization | 1 |
| regulation of protein depolymerization | 1 |
| regulation of supramolecular fiber organization | 1 |
| regulation of proteasomal ubiquitin-dependent protein catabolic process | 1 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 1 |
| negative regulation of proteasomal protein catabolic process | 1 |
| negative regulation of ubiquitin-dependent protein catabolic process | 1 |
| modulation of chemical synaptic transmission | 1 |
| regulation of biological quality | 1 |
| musculoskeletal movement | 1 |
| cellular homeostasis | 1 |
| anterograde axonal transport | 1 |
| protein localization to presynapse | 1 |
| retrograde axonal transport | 1 |
| protein localization to microtubule | 1 |
| regulation of protein localization to microtubule | 1 |
| negative regulation of protein localization | 1 |
| intracellular protein localization | 1 |
| regulation of protein localization | 1 |
| positive regulation of biological process | 1 |
| neuron projection organization | 1 |
| protein localization to cell surface | 1 |
| positive regulation of protein localization | 1 |
| regulation of protein localization to cell surface | 1 |
Protein interactions and networks
STRING
1894 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MAP1A | SQSTM1 | Q13501 | 994 |
| MAP1A | BECN1 | Q14457 | 947 |
| MAP1A | BNIP3L | O60238 | 940 |
| MAP1A | FUNDC1 | Q8IVP5 | 936 |
| MAP1A | BNIP3 | Q12983 | 935 |
| MAP1A | ATG12 | O94817 | 928 |
| MAP1A | F5GZY7 | F5GZY7 | 926 |
| MAP1A | GABARAPL2 | P60520 | 923 |
| MAP1A | MAP1LC3B | Q9GZQ8 | 919 |
| MAP1A | CD300C | Q08708 | 912 |
| MAP1A | ATG5 | Q9H1Y0 | 905 |
| MAP1A | CALCOCO2 | Q13137 | 896 |
| MAP1A | ATG3 | Q9NT62 | 875 |
| MAP1A | ATG7 | O95352 | 866 |
| MAP1A | ATG16L1 | Q676U5 | 849 |
IntAct
82 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SFN | RAF1 | psi-mi:“MI:0915”(physical association) | 0.890 |
| MAP1LC3B | ATG7 | psi-mi:“MI:0914”(association) | 0.740 |
| MAP1LC3B | MAP1B | psi-mi:“MI:0914”(association) | 0.730 |
| DIDO1 | OGT | psi-mi:“MI:0914”(association) | 0.670 |
| NUFIP1 | PDE2A | psi-mi:“MI:0914”(association) | 0.530 |
| SREK1IP1 | KPNA5 | psi-mi:“MI:0914”(association) | 0.530 |
| MAP1LC3B | NIPSNAP2 | psi-mi:“MI:0914”(association) | 0.520 |
| MAP1A | Kcnma1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| Kcnma1 | MAP1A | psi-mi:“MI:0915”(physical association) | 0.510 |
| DISC1 | MAP1A | psi-mi:“MI:0915”(physical association) | 0.510 |
| SHANK3 | MAP1A | psi-mi:“MI:0915”(physical association) | 0.500 |
| MAP1A | Csnk1d | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| MAP1A | Dlg4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP1A | PLEC | psi-mi:“MI:0915”(physical association) | 0.400 |
| CACNB4 | MAP1A | psi-mi:“MI:0915”(physical association) | 0.370 |
| HTR2A | MAP1A | psi-mi:“MI:0915”(physical association) | 0.370 |
| MAP1A | RHOB | psi-mi:“MI:0915”(physical association) | 0.370 |
| JUN | psi-mi:“MI:0914”(association) | 0.350 | |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| PA | RBMX | psi-mi:“MI:0914”(association) | 0.350 |
| PB2 | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| APBB1 | SSPOP | psi-mi:“MI:0914”(association) | 0.350 |
| TP63 | HNRNPR | psi-mi:“MI:0914”(association) | 0.350 |
| TRAF3IP1 | PHGDH | psi-mi:“MI:0914”(association) | 0.350 |
| BMI1 | HMGB1P1 | psi-mi:“MI:0914”(association) | 0.350 |
| MAP1LC3A | ATG7 | psi-mi:“MI:0914”(association) | 0.350 |
| MAP1LC3B | MAP1LC3B2 | psi-mi:“MI:0914”(association) | 0.350 |
| MAP1LC3A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (124): MAP1A (Two-hybrid), MAP1A (Affinity Capture-MS), MAP1A (Affinity Capture-MS), MAP1A (Affinity Capture-MS), MAP1A (Affinity Capture-MS), MAP1A (Affinity Capture-MS), MAP1A (Affinity Capture-MS), ACTA1 (Reconstituted Complex), MAP1A (Affinity Capture-MS), MAP1A (Affinity Capture-MS), MAP1A (Affinity Capture-RNA), MAP1A (Affinity Capture-Western), MAP1A (Two-hybrid), MAP1A (Reconstituted Complex), MAP1A (Affinity Capture-Western)
ESM2 similar proteins: A0A8I5ZN27, A6NNT2, D3ZEN0, E1AZ71, E1BM58, O15061, O15446, O55103, O88737, O88778, P08855, P0C671, P10636, P10637, P12036, P16884, P19246, P19332, P27816, P34926, P36225, P53814, P62521, P78559, Q06002, Q09666, Q0VA45, Q28181, Q3TN34, Q3UH66, Q4R729, Q5S6V2, Q5STT6, Q5T0Z8, Q5YCV9, Q5YCW0, Q5YCW1, Q63425, Q76KJ5, Q7Z2K8
Diamond homologs: A6QQ70, P0C5W1, P14400, P14401, P14873, P15205, P34926, P46821, P78559, Q66K74, Q8C052, Q9QYR6, Q9W596
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| estramustine | “down-regulates activity” | MAP1A | “chemical inhibition” |
| DYRK1A | “up-regulates activity” | MAP1A | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 101 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitophagy | 6 | 23.3× | 9e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
427 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 391 |
| Likely benign | 28 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1685937 | NM_002373.6(MAP1A):c.5484_5485del (p.Met1829fs) | Pathogenic |
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
18195 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:43521492:T:C | F7L | 1.000 |
| 15:43521493:T:C | F7S | 1.000 |
| 15:43521493:T:G | F7C | 1.000 |
| 15:43521494:C:A | F7L | 1.000 |
| 15:43521494:C:G | F7L | 1.000 |
| 15:43521505:T:A | V11D | 1.000 |
| 15:43521544:T:C | L24P | 1.000 |
| 15:43521567:T:C | F32L | 1.000 |
| 15:43521569:C:A | F32L | 1.000 |
| 15:43521569:C:G | F32L | 1.000 |
| 15:43521571:T:A | L33H | 1.000 |
| 15:43521571:T:C | L33P | 1.000 |
| 15:43521573:A:G | K34E | 1.000 |
| 15:43521575:G:C | K34N | 1.000 |
| 15:43521575:G:T | K34N | 1.000 |
| 15:43521577:T:A | L35H | 1.000 |
| 15:43521577:T:C | L35P | 1.000 |
| 15:43521586:C:A | P38H | 1.000 |
| 15:43521590:T:G | C39W | 1.000 |
| 15:43521591:T:C | C40R | 1.000 |
| 15:43521592:G:A | C40Y | 1.000 |
| 15:43521593:C:G | C40W | 1.000 |
| 15:43521600:T:C | F43L | 1.000 |
| 15:43521601:T:C | F43S | 1.000 |
| 15:43521602:C:A | F43L | 1.000 |
| 15:43521602:C:G | F43L | 1.000 |
| 15:43521615:G:A | G48R | 1.000 |
| 15:43521615:G:C | G48R | 1.000 |
| 15:43521615:G:T | G48W | 1.000 |
| 15:43521624:G:C | A51P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000015402 (15:43526154 A>G), RS1000138380 (15:43518167 A>C), RS1000408356 (15:43511934 A>C), RS1000468510 (15:43519092 G>C), RS1000489139 (15:43518443 C>T), RS1000509616 (15:43531102 C>T), RS1000565559 (15:43524327 G>C), RS1000634323 (15:43518783 A>C,G), RS1000688469 (15:43527122 T>C), RS1000689835 (15:43513529 CT>C), RS1001174921 (15:43530788 A>C), RS1001204238 (15:43520628 A>C,G), RS1001360485 (15:43510991 G>A,T), RS1001471836 (15:43517947 A>G), RS1002260308 (15:43512960 G>A)
Disease associations
OMIM: gene MIM:600178 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): neurodevelopmental disorder (MONDO:0700092)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004603_232 | Platelet count | 2.000000e-23 |
| GCST004607_107 | Plateletcrit | 2.000000e-26 |
| GCST006613_79 | Triglycerides | 5.000000e-28 |
| GCST007849_8 | Triglycerides | 1.000000e-17 |
| GCST010083_192 | Hemoglobin levels | 8.000000e-35 |
| GCST010083_271 | Hemoglobin levels | 4.000000e-36 |
| GCST011925_4 | Triglyceride levels x fish oil supplementation interaction (2df) | 2.000000e-13 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004309 | platelet count |
| EFO:0007985 | platelet crit |
| EFO:0004530 | triglyceride measurement |
| EFO:0004509 | hemoglobin measurement |
| EFO:0600007 | fish oil supplement exposure measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
61 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression | 4 |
| (+)-JQ1 compound | increases expression | 3 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| bisphenol S | increases expression, affects cotreatment, decreases expression | 2 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases expression, increases methylation | 2 |
| Dexamethasone | increases expression, affects cotreatment, decreases expression | 2 |
| Estradiol | increases expression, affects cotreatment, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, affects expression | 2 |
| OTX015 | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| mivebresib | increases expression | 1 |
| sotorasib | affects cotreatment, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| lead acetate | increases expression | 1 |
| pyrimidin-2-one beta-ribofuranoside | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| monomethylarsonous acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| bisphenol B | increases expression | 1 |
| dorsomorphin | increases expression, affects cotreatment | 1 |
| licochalcone B | increases expression | 1 |
| trametinib | affects cotreatment, increases expression | 1 |
| NVP-BKM120 | affects cotreatment, increases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SW29 | HAP1 MAP1A (-) 1 | Cancer cell line | Male |
| CVCL_SW30 | HAP1 MAP1A (-) 2 | Cancer cell line | Male |
| CVCL_SW31 | HAP1 MAP1A (-) 3 | Cancer cell line | Male |
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
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.