MAK16
geneOn this page
Also known as MAK16L
Summary
MAK16 (MAK16 homolog, HGNC:13703) is a protein-coding gene on chromosome 8p12, encoding Protein MAK16 homolog (Q9BXY0). It is a common-essential gene (DepMap: required in 100.0% of cancer cell lines).
Enables RNA binding activity. Predicted to be involved in maturation of 5.8S rRNA and maturation of LSU-rRNA. Located in nucleolus.
Source: NCBI Gene 84549 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 66 total — 1 pathogenic
- Phenotypes (HPO): 1
- Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
- MANE Select transcript:
NM_032509
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13703 |
| Approved symbol | MAK16 |
| Name | MAK16 homolog |
| Location | 8p12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MAK16L |
| Ensembl gene | ENSG00000198042 |
| Ensembl biotype | protein_coding |
| Entrez | 84549 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 6 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay
ENST00000360128, ENST00000517567, ENST00000518389, ENST00000519089, ENST00000520763, ENST00000929667, ENST00000929668, ENST00000929669, ENST00000929670, ENST00000954019
RefSeq mRNA: 1 — MANE Select: NM_032509
NM_032509
CCDS: CCDS6089
Canonical transcript exons
ENST00000360128 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000911608 | 33488988 | 33489139 |
| ENSE00000911609 | 33490285 | 33490339 |
| ENSE00001421531 | 33498432 | 33501262 |
| ENSE00002131726 | 33485182 | 33485221 |
| ENSE00003515491 | 33488378 | 33488427 |
| ENSE00003533633 | 33488520 | 33488629 |
| ENSE00003593628 | 33495542 | 33495616 |
| ENSE00003616880 | 33488734 | 33488798 |
| ENSE00003631690 | 33496625 | 33496741 |
| ENSE00003667045 | 33497232 | 33497297 |
Expression profiles
Bgee: expression breadth ubiquitous, 275 present calls, max score 90.15.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.5906 / max 633.0842, expressed in 1795 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 88392 | 24.2080 | 1794 |
| 88394 | 1.3826 | 781 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 90.15 | gold quality |
| secondary oocyte | CL:0000655 | 89.88 | gold quality |
| oocyte | CL:0000023 | 88.99 | gold quality |
| tendon | UBERON:0000043 | 87.23 | gold quality |
| tibialis anterior | UBERON:0001385 | 86.54 | gold quality |
| deltoid | UBERON:0001476 | 86.05 | silver quality |
| buccal mucosa cell | CL:0002336 | 85.70 | silver quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.55 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.43 | gold quality |
| oviduct epithelium | UBERON:0004804 | 84.66 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 84.54 | silver quality |
| gluteal muscle | UBERON:0002000 | 84.34 | gold quality |
| parietal pleura | UBERON:0002400 | 83.71 | gold quality |
| biceps brachii | UBERON:0001507 | 83.67 | gold quality |
| adrenal tissue | UBERON:0018303 | 83.60 | gold quality |
| pleura | UBERON:0000977 | 83.28 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 83.00 | silver quality |
| endometrium | UBERON:0001295 | 82.94 | gold quality |
| islet of Langerhans | UBERON:0000006 | 82.71 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 82.60 | gold quality |
| cartilage tissue | UBERON:0002418 | 82.48 | gold quality |
| stromal cell of endometrium | CL:0002255 | 82.28 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 82.23 | gold quality |
| gastrocnemius | UBERON:0001388 | 82.06 | gold quality |
| muscle of leg | UBERON:0001383 | 82.02 | gold quality |
| colonic epithelium | UBERON:0000397 | 82.01 | gold quality |
| fallopian tube | UBERON:0003889 | 81.86 | gold quality |
| visceral pleura | UBERON:0002401 | 81.74 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 81.65 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 81.63 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.90 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
157 targeting MAK16, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mak16 | ENSDARG00000003527 |
| mus_musculus | Mak16 | ENSMUSG00000031578 |
| rattus_norvegicus | Mak16 | ENSRNOG00000010783 |
| drosophila_melanogaster | Rbm13 | FBGN0030067 |
| caenorhabditis_elegans | WBGENE00015811 |
Protein
Protein identifiers
Protein MAK16 homolog — Q9BXY0 (reviewed: Q9BXY0)
Alternative names: NNP78, Protein RBM13
All UniProt accessions (2): Q9BXY0, H0YBV6
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Nucleus. Nucleolus.
Similarity. Belongs to the MAK16 family.
RefSeq proteins (1): NP_115898* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006958 | Mak16 | Family |
| IPR029004 | Ribosomal_eL28/Mak16 | Domain |
Pfam: PF01778, PF04874
UniProt features (15 total): modified residue 5, compositionally biased region 3, cross-link 2, sequence conflict 2, chain 1, region of interest 1, sequence variant 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8FKV | ELECTRON MICROSCOPY | 2.47 |
| 8FKT | ELECTRON MICROSCOPY | 2.81 |
| 8FKP | ELECTRON MICROSCOPY | 2.85 |
| 8FKR | ELECTRON MICROSCOPY | 2.89 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BXY0-F1 | 75.20 | 0.49 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (7): 55, 151, 1, 197, 200, 229, 232
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 155 (showing top):
GOBP_RIBOSOME_BIOGENESIS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, PUJANA_CHEK2_PCC_NETWORK, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_MATURATION_OF_LSU_RRNA, GATA1_01, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP, chr8p12, GOBP_MATURATION_OF_5_8S_RRNA, SARTIPY_NORMAL_AT_INSULIN_RESISTANCE_UP, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GOBP_RIBOSOMAL_LARGE_SUBUNIT_BIOGENESIS, BERENJENO_TRANSFORMED_BY_RHOA_UP, CAIRO_LIVER_DEVELOPMENT_UP, GOCC_PRERIBOSOME
GO Biological Process (2): maturation of 5.8S rRNA (GO:0000460), maturation of LSU-rRNA (GO:0000470)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (3): nucleolus (GO:0005730), preribosome, large subunit precursor (GO:0030687), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| rRNA processing | 2 |
| ribosomal large subunit biogenesis | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
| preribosome | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2305 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MAK16 | WDR12 | Q9GZL7 | 678 |
| MAK16 | NIFK | Q9BYG3 | 671 |
| MAK16 | RSL1D1 | O76021 | 663 |
| MAK16 | PA2G4 | Q9UQ80 | 627 |
| MAK16 | NIP7 | Q9Y221 | 597 |
| MAK16 | PUS7 | Q96PZ0 | 597 |
| MAK16 | GTPBP4 | Q9BZE4 | 572 |
| MAK16 | POLR1B | Q9H9Y6 | 570 |
| MAK16 | PAK1IP1 | Q9NWT1 | 558 |
| MAK16 | WDR74 | Q6RFH5 | 523 |
| MAK16 | RRP36 | Q96EU6 | 520 |
| MAK16 | EBNA1BP2 | Q99848 | 517 |
| MAK16 | GNL3 | Q9BVP2 | 515 |
| MAK16 | RSPH14 | Q9UHP6 | 509 |
| MAK16 | RAB14 | P35287 | 492 |
IntAct
107 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MAK16 | FRMD6 | psi-mi:“MI:0915”(physical association) | 0.670 |
| FRMD6 | MAK16 | psi-mi:“MI:0915”(physical association) | 0.670 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | NVL | psi-mi:“MI:0914”(association) | 0.610 |
| MAK16 | LIN7B | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPL28 | MAGEB2 | psi-mi:“MI:0914”(association) | 0.560 |
| HNRNPH2 | PLOD2 | psi-mi:“MI:0914”(association) | 0.530 |
| H1-4 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| MACROH2A2 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| MAK16 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| ZBTB48 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| RPF1 | ZNF324 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| H1-4 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| KRR1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| NHSL3 | NCK2 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF71 | DKC1 | psi-mi:“MI:0914”(association) | 0.530 |
| MAK16 | CSNK2A1 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| CSNK2A2 | WDR46 | psi-mi:“MI:0914”(association) | 0.350 |
| SMC6 | IFT88 | psi-mi:“MI:0914”(association) | 0.350 |
| TSNAX | psi-mi:“MI:0914”(association) | 0.350 | |
| Cep85l | CLK2 | psi-mi:“MI:0914”(association) | 0.350 |
| PDGFRA | RNPS1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (231): MAK16 (Affinity Capture-MS), BRIX1 (Co-fractionation), MAK16 (Co-fractionation), MAK16 (Affinity Capture-MS), MAK16 (Affinity Capture-MS), MAK16 (Affinity Capture-MS), MAK16 (Affinity Capture-MS), MAK16 (Affinity Capture-MS), MAK16 (Affinity Capture-MS), MAK16 (Affinity Capture-MS), MAK16 (Affinity Capture-MS), MAK16 (Affinity Capture-MS), FRMD6 (Affinity Capture-MS), WDR74 (Affinity Capture-MS), TUBA8 (Affinity Capture-MS)
ESM2 similar proteins: A1CQN6, A3GGT2, A3GGV1, A5DNZ1, A5E203, A7A241, A7TJT3, A7TSJ7, A8P353, B4PKZ7, C5E1C7, F5HI87, O14015, O14218, O49691, O59835, O60153, P0C9Y6, P13200, P29832, P36103, P41884, P43587, P46583, P53222, Q09356, Q11091, Q196X1, Q1DR50, Q4R309, Q59ZU1, Q59ZW4, Q6BSZ8, Q6CNA0, Q6DDH0, Q6FUM5, Q6GLB0, Q6R7J4, Q750F0, Q88889
Diamond homologs: P10962, P46435, Q1RML7, Q55DJ3, Q66L33, Q6NYD4, Q6P7N1, Q7ZYG5, Q8BGS0, Q9BXY0, Q9UTE6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 121 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 |
|---|---|---|---|
| Peptide chain elongation | 9 | 14.8× | 4e-07 |
| Viral mRNA Translation | 9 | 14.8× | 4e-07 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 9 | 14.7× | 4e-07 |
| rRNA modification in the nucleus and cytosol | 6 | 14.6× | 5e-05 |
| Selenocysteine synthesis | 9 | 14.1× | 4e-07 |
| Eukaryotic Translation Termination | 9 | 14.1× | 4e-07 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 9 | 13.8× | 4e-07 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 9 | 13.8× | 4e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ribosomal large subunit biogenesis | 6 | 23.8× | 2e-05 |
| cytoplasmic translation | 10 | 16.5× | 1e-07 |
| ribosomal small subunit biogenesis | 8 | 16.3× | 6e-06 |
| rRNA processing | 12 | 15.2× | 1e-08 |
| regulation of alternative mRNA splicing, via spliceosome | 6 | 13.1× | 6e-04 |
| regulation of RNA splicing | 5 | 9.8× | 9e-03 |
| translation | 10 | 9.2× | 2e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
66 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 42 |
| Likely benign | 9 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 88868 | NM_001102401.4(TTI2):c.1307T>A (p.Ile436Asn) | Pathogenic |
SpliceAI
1198 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:33485222:G:GG | donor_gain | 1.0000 |
| 8:33488372:TTGCA:T | acceptor_loss | 1.0000 |
| 8:33488373:TGCA:T | acceptor_loss | 1.0000 |
| 8:33488374:GCA:G | acceptor_loss | 1.0000 |
| 8:33488375:CA:C | acceptor_loss | 1.0000 |
| 8:33488376:AGGT:A | acceptor_loss | 1.0000 |
| 8:33488377:GGTT:G | acceptor_gain | 1.0000 |
| 8:33488428:G:GA | donor_loss | 1.0000 |
| 8:33488513:A:AG | acceptor_gain | 1.0000 |
| 8:33488514:T:G | acceptor_gain | 1.0000 |
| 8:33488518:A:AG | acceptor_gain | 1.0000 |
| 8:33488519:G:GT | acceptor_gain | 1.0000 |
| 8:33488519:GA:G | acceptor_gain | 1.0000 |
| 8:33488519:GAA:G | acceptor_gain | 1.0000 |
| 8:33488519:GAAC:G | acceptor_gain | 1.0000 |
| 8:33488519:GAACC:G | acceptor_gain | 1.0000 |
| 8:33488625:GAAAG:G | donor_gain | 1.0000 |
| 8:33488626:AAAGG:A | donor_loss | 1.0000 |
| 8:33488627:AAGGT:A | donor_loss | 1.0000 |
| 8:33488628:AG:A | donor_loss | 1.0000 |
| 8:33488629:GGTA:G | donor_loss | 1.0000 |
| 8:33488630:G:T | donor_loss | 1.0000 |
| 8:33488631:T:A | donor_loss | 1.0000 |
| 8:33488733:GGACA:G | acceptor_gain | 1.0000 |
| 8:33489140:G:GG | donor_gain | 1.0000 |
| 8:33495427:G:GT | donor_gain | 1.0000 |
| 8:33495540:A:AC | acceptor_loss | 1.0000 |
| 8:33495612:A:G | donor_gain | 1.0000 |
| 8:33495617:G:GG | donor_gain | 1.0000 |
| 8:33496614:AT:A | acceptor_gain | 1.0000 |
AlphaMissense
1995 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:33488384:T:A | W8R | 0.999 |
| 8:33488384:T:C | W8R | 0.999 |
| 8:33488569:T:C | C39R | 0.999 |
| 8:33488584:T:C | C44R | 0.999 |
| 8:33488609:C:A | A52D | 0.999 |
| 8:33488790:T:A | W78R | 0.999 |
| 8:33488790:T:C | W78R | 0.999 |
| 8:33488792:G:C | W78C | 0.999 |
| 8:33488792:G:T | W78C | 0.999 |
| 8:33489040:T:C | L98P | 0.999 |
| 8:33489074:T:G | C109W | 0.999 |
| 8:33489077:G:C | K110N | 0.999 |
| 8:33489077:G:T | K110N | 0.999 |
| 8:33489106:T:C | L120P | 0.999 |
| 8:33489112:G:C | R122P | 0.999 |
| 8:33489124:T:C | L126P | 0.999 |
| 8:33495558:C:A | A155D | 0.999 |
| 8:33495560:G:C | A156P | 0.999 |
| 8:33495561:C:A | A156D | 0.999 |
| 8:33495575:G:C | A161P | 0.999 |
| 8:33495579:T:A | I162N | 0.999 |
| 8:33495591:T:C | L166S | 0.999 |
| 8:33495603:T:C | L170P | 0.999 |
| 8:33488386:G:C | W8C | 0.998 |
| 8:33488386:G:T | W8C | 0.998 |
| 8:33488411:T:C | C17R | 0.998 |
| 8:33488412:G:A | C17Y | 0.998 |
| 8:33488539:T:C | C29R | 0.998 |
| 8:33488540:G:A | C29Y | 0.998 |
| 8:33488541:C:G | C29W | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000107618 (8:33492491 A>G), RS1000497496 (8:33484529 T>A,C), RS1000609111 (8:33497389 C>T), RS1000774633 (8:33484737 C>A,T), RS1001079798 (8:33490710 T>C), RS1001490144 (8:33498739 A>C), RS1001543862 (8:33495695 T>A,G), RS1001696454 (8:33489384 T>C), RS1001704809 (8:33483452 G>C), RS1001940541 (8:33493815 C>T), RS1002127451 (8:33489609 A>C), RS1002340675 (8:33500461 T>C), RS1002544993 (8:33494330 C>T), RS1002867055 (8:33500754 A>C,G), RS1003265715 (8:33488080 C>T)
Disease associations
OMIM: gene `` | disease phenotypes: MIM:615541
GenCC curated gene-disease
Mondo (2): severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (MONDO:0014238), microcephaly (MONDO:0001149)
Orphanet (1): Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (Orphanet:391307)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000252 | Microcephaly |
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006626_14 | Pulse pressure | 1.000000e-09 |
| GCST009391_574 | Metabolite levels | 7.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005763 | pulse pressure measurement |
| EFO:0021604 | hypoxanthine measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008831 | Microcephaly | C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects methylation, decreases expression | 2 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression, decreases expression | 2 |
| Resveratrol | affects cotreatment, decreases expression, increases expression | 2 |
| Estradiol | increases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| tetrahydropalmatine | decreases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| 1-nitropyrene | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| bisphenol S | affects expression | 1 |
| jinfukang | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | increases expression, affects cotreatment, increases abundance | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Plant Extracts | increases expression, affects cotreatment | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | decreases expression | 1 |
| Dronabinol | decreases expression | 1 |
Clinical trials (associated diseases)
17 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT05518188 | PHASE1/PHASE2 | RECRUITING | Melpida: Recombinant Adeno-associated Virus (serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt) |
| NCT00001639 | Not specified | COMPLETED | Evaluation of Patients With Unresolved Chromosome Abnormalities |
| NCT01151462 | Not specified | WITHDRAWN | Postnatal HCMV Infection in Very Preterm Infants. Implications, Morbidity, Growth and Neurodevelopmental Outcomes. |
| NCT01565005 | Not specified | COMPLETED | Microcephaly Genetic Deficiency in Neural Progenitors |
| NCT02510170 | Not specified | COMPLETED | Fetal and Maternal Head Circumference During Pregnancy in Israeli Population |
| NCT02741882 | Not specified | COMPLETED | Zika and Microcephaly: Case-control Study |
| NCT02943304 | Not specified | COMPLETED | Neurodevelopment Outcome of Newborns Exposed to Zika Virus (ZIKV) in Utero |
| NCT03255369 | Not specified | UNKNOWN | Vertical Exposure to Zika Virus and Its Consequences for Child Neurodevelopment (ZIKVIRUSIFF) |
| NCT03325946 | Not specified | RECRUITING | The FBRI VTC Neuromotor Research Clinic |
| NCT03330600 | Not specified | COMPLETED | Efficacy of Aquatic Physiotherapy in Children With Microcephaly by Zika Virus Congenital Syndrome |
| NCT03548779 | Not specified | COMPLETED | North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 |
| NCT03651687 | Not specified | COMPLETED | Guangzhou Surveillance and Clinical Study in Microcephaly (GSCSM) |
| NCT03922594 | Not specified | TERMINATED | Surveillance of Zika-related Microcephaly in Sub-Saharan Africa and Asia |
| NCT04816175 | Not specified | COMPLETED | Intensive Therapy for Children With Microcephaly, Hyperkinetic Movements, or Global Developmental Delay |
| NCT05322980 | Not specified | COMPLETED | Summary of Infants Weighing 500 Grams or Less |
| NCT06019182 | Not specified | RECRUITING | MEHMO Natural History and Biomarkers |
| NCT06566066 | Not specified | RECRUITING | Register for Patients With Thyroid Hormone Resistance. |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): microcephaly, severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome