MAP9
gene geneOn this page
Also known as ASAPFLJ21159
Summary
MAP9 (microtubule associated protein 9, HGNC:26118) is a protein-coding gene on chromosome 4q32.1, encoding Microtubule-associated protein 9 (Q49MG5). Involved in organization of the bipolar mitotic spindle.
ASAP is a microtubule-associated protein required for spindle function, mitotic progression, and cytokinesis (Saffin et al., 2005 [PubMed 16049101]).
Source: NCBI Gene 79884 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 101 total
- MANE Select transcript:
NM_001039580
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26118 |
| Approved symbol | MAP9 |
| Name | microtubule associated protein 9 |
| Location | 4q32.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ASAP, FLJ21159 |
| Ensembl gene | ENSG00000164114 |
| Ensembl biotype | protein_coding |
| OMIM | 610070 |
| Entrez | 79884 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 12 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000311277, ENST00000379248, ENST00000424373, ENST00000433024, ENST00000450097, ENST00000481250, ENST00000503466, ENST00000515654, ENST00000650955, ENST00000933327, ENST00000933328, ENST00000933329, ENST00000933330, ENST00000933332
RefSeq mRNA: 1 — MANE Select: NM_001039580
NM_001039580
CCDS: CCDS35493
Canonical transcript exons
ENST00000311277 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001081572 | 155362048 | 155362141 |
| ENSE00001081575 | 155355716 | 155355884 |
| ENSE00001081577 | 155368586 | 155368812 |
| ENSE00001081579 | 155357449 | 155357519 |
| ENSE00001081582 | 155360168 | 155360415 |
| ENSE00001399390 | 155352596 | 155352728 |
| ENSE00001480276 | 155342658 | 155347905 |
| ENSE00003466322 | 155352912 | 155353057 |
| ENSE00003517187 | 155353179 | 155353340 |
| ENSE00003561743 | 155373136 | 155373456 |
| ENSE00003562281 | 155375776 | 155375914 |
| ENSE00003608922 | 155355071 | 155355160 |
| ENSE00003626892 | 155374937 | 155375021 |
| ENSE00003841678 | 155376771 | 155376965 |
Expression profiles
Bgee: expression breadth ubiquitous, 265 present calls, max score 97.79.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.7773 / max 588.4982, expressed in 1320 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 54536 | 3.7177 | 1105 |
| 54538 | 2.0449 | 1010 |
| 54535 | 0.8241 | 389 |
| 54537 | 0.1906 | 83 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lateral nuclear group of thalamus | UBERON:0002736 | 97.79 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 97.18 | gold quality |
| pons | UBERON:0000988 | 97.09 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 96.09 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 95.91 | gold quality |
| bronchial epithelial cell | CL:0002328 | 95.82 | gold quality |
| endothelial cell | CL:0000115 | 95.37 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 95.27 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 95.22 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 94.94 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 94.54 | gold quality |
| postcentral gyrus | UBERON:0002581 | 92.35 | gold quality |
| parietal lobe | UBERON:0001872 | 92.25 | gold quality |
| primary visual cortex | UBERON:0002436 | 91.98 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 91.93 | gold quality |
| occipital lobe | UBERON:0002021 | 91.05 | gold quality |
| entorhinal cortex | UBERON:0002728 | 90.84 | gold quality |
| oocyte | CL:0000023 | 90.79 | gold quality |
| ventral tegmental area | UBERON:0002691 | 90.78 | gold quality |
| caput epididymis | UBERON:0004358 | 90.42 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 90.19 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 90.03 | gold quality |
| globus pallidus | UBERON:0001875 | 89.25 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 89.20 | gold quality |
| medial globus pallidus | UBERON:0002477 | 88.63 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.52 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 88.51 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.49 | gold quality |
| cerebellar vermis | UBERON:0004720 | 88.45 | gold quality |
| medulla oblongata | UBERON:0001896 | 88.13 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.53 |
| E-GEOD-81608 | yes | 5.09 |
| E-GEOD-81547 | yes | 4.71 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
211 targeting MAP9, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
Literature-anchored findings (GeneRIF, showing 12)
- ASAP is a human microtubule-associated protein required for bipolar spindle assembly and cytokinesis. (PMID:16049101)
- Study demonstrates that AurA-mediated phosphorylation of ASAP is essential to spindle formation and mitosis. (PMID:17925329)
- Results highlight dual ASAP regulation by Plk1 and further confirm the importance of ASAP for spindle pole organization, bipolar spindle assembly, and mitosis. (PMID:20615875)
- ASAP stabilizes p53 both by alleviating MDM2-mediated p53 ubiquitination and by enhancing its p300-dependent acetylation. (PMID:22672907)
- MAP9 downregulation is associated with colorectal malignancy. (PMID:24876664)
- MAP9 rs1058992 polymorphism is associated with risk of EBV-associated gastric carcinoma (PMID:30472874)
- Data suggest miR-320a/microtubule-associated protein 9 (MAP9) as promising targets for the treatment and prevention of postmenopausal osteoporosis (PMO). (PMID:31301305)
- MAP9 Loss Triggers Chromosomal Instability, Initiates Colorectal Tumorigenesis, and Is Associated with Poor Survival of Patients with Colorectal Cancer. (PMID:31662330)
- Microtubule associated protein 9 inhibits liver tumorigenesis by suppressing ERCC3. (PMID:32151798)
- MAP9/ERCC3 signaling cascade: A new insight on understanding the chromosomal instability in hepatocellular carcinoma. (PMID:32268270)
- Expression of MAP9 in Epstein-Barr virus-associated gastric carcinoma. (PMID:33309912)
- MAP9/MAPH-9 supports axonemal microtubule doublets and modulates motor movement. (PMID:38159567)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | map9 | ENSDARG00000037276 |
| mus_musculus | Map9 | ENSMUSG00000033900 |
| rattus_norvegicus | Map9 | ENSRNOG00000012982 |
| caenorhabditis_elegans | WBGENE00016397 |
Protein
Protein identifiers
Microtubule-associated protein 9 — Q49MG5 (reviewed: Q49MG5)
Alternative names: Aster-associated protein
All UniProt accessions (7): A0A0C4DG83, A2VCS9, A8MSM7, C9JXH8, Q49MG5, E7ETZ8, H0Y945
UniProt curated annotations — full annotation on UniProt →
Function. Involved in organization of the bipolar mitotic spindle. Required for bipolar spindle assembly, mitosis progression and cytokinesis. May act by stabilizing interphase microtubules.
Subunit / interactions. Binds to purified microtubules via its C-terminus.
Subcellular location. Cytoplasm. Cytoskeleton. Spindle.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q49MG5-1 | 1 | yes |
| Q49MG5-2 | 2 |
RefSeq proteins (1): NP_001034669* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026106 | MAP9 | Family |
UniProt features (31 total): compositionally biased region 8, region of interest 6, sequence variant 4, sequence conflict 4, coiled-coil region 3, modified residue 2, splice variant 2, initiator methionine 1, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q49MG5-F1 | 62.53 | 0.29 |
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 (2): 2, 12
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 159 (showing top):
GOBP_MITOTIC_CYTOKINESIS, GOBP_CHROMOSOME_ORGANIZATION, AGGAAGC_MIR5163P, chr4q32, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, CMYB_01, GOBP_MITOTIC_SPINDLE_ASSEMBLY, GOBP_ORGANELLE_FISSION, GOBP_CYTOKINESIS, GOBP_REGULATION_OF_SPINDLE_ORGANIZATION, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_MITOTIC_NUCLEAR_DIVISION, GOBP_REGULATION_OF_CYTOKINESIS, GOBP_REGULATION_OF_CELL_DIVISION, GOBP_ORGANELLE_ASSEMBLY
GO Biological Process (7): mitotic cytokinesis (GO:0000281), regulation of mitotic centrosome separation (GO:0046602), regulation of mitotic spindle organization (GO:0060236), mitotic spindle assembly (GO:0090307), regulation of mitotic cytokinesis (GO:1902412), spindle assembly (GO:0051225), cell division (GO:0051301)
GO Molecular Function (1): microtubule binding (GO:0008017)
GO Cellular Component (11): astral microtubule (GO:0000235), cytoplasm (GO:0005737), axon (GO:0030424), spindle midzone (GO:0051233), mitotic spindle (GO:0072686), mitotic spindle midzone (GO:1990023), aster (GO:0005818), spindle (GO:0005819), cytoskeleton (GO:0005856), microtubule (GO:0005874), microtubule cytoskeleton (GO:0015630)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| spindle | 3 |
| intracellular membraneless organelle | 3 |
| mitotic spindle organization | 2 |
| cellular anatomical structure | 2 |
| microtubule cytoskeleton | 2 |
| mitotic cell cycle | 1 |
| cytoskeleton-dependent cytokinesis | 1 |
| mitotic cell cycle process | 1 |
| mitotic centrosome separation | 1 |
| regulation of cell cycle process | 1 |
| regulation of spindle organization | 1 |
| mitotic sister chromatid segregation | 1 |
| spindle assembly | 1 |
| mitotic nuclear division | 1 |
| mitotic cytokinesis | 1 |
| regulation of cytokinesis | 1 |
| spindle organization | 1 |
| chromosome segregation | 1 |
| membraneless organelle assembly | 1 |
| cellular process | 1 |
| tubulin binding | 1 |
| aster | 1 |
| spindle microtubule | 1 |
| cytoplasmic microtubule | 1 |
| intracellular anatomical structure | 1 |
| neuron projection | 1 |
| spindle midzone | 1 |
| mitotic spindle | 1 |
| supramolecular complex | 1 |
| polymeric cytoskeletal fiber | 1 |
| cytoskeleton | 1 |
Protein interactions and networks
STRING
538 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MAP9 | TUBA4A | P05215 | 722 |
| MAP9 | AURKA | O14965 | 577 |
| MAP9 | MAP10 | Q9P2G4 | 479 |
| MAP9 | NXPE3 | Q969Y0 | 447 |
| MAP9 | MAP7D3 | Q8IWC1 | 407 |
| MAP9 | MAP7 | Q14244 | 399 |
| MAP9 | MMAB | Q96EY8 | 387 |
| MAP9 | TMEM82 | A0PJX8 | 382 |
| MAP9 | CCDC163 | A0A0D9SF12 | 376 |
| MAP9 | RSPH9 | Q9H1X1 | 371 |
| MAP9 | NEDD1 | Q8NHV4 | 363 |
| MAP9 | ZNF154 | Q13106 | 350 |
| MAP9 | CIMAP1B | A8MYP8 | 339 |
| MAP9 | MAP7D1 | Q3KQU3 | 338 |
| MAP9 | FAM161B | Q96MY7 | 324 |
IntAct
38 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NEURL4 | APBB1 | psi-mi:“MI:0914”(association) | 0.530 |
| EZH1 | EPOP | psi-mi:“MI:0914”(association) | 0.530 |
| MAP9 | AK2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MAP9 | TPR | psi-mi:“MI:0915”(physical association) | 0.400 |
| MAP9 | RPL10A | psi-mi:“MI:0915”(physical association) | 0.400 |
| NEURL4 | CCDC85C | psi-mi:“MI:0914”(association) | 0.350 |
| ORF4a | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.350 |
| CAPZB | ENAH | psi-mi:“MI:0914”(association) | 0.350 |
| CSNK2A1 | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
| JPH3 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| IL13 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF677 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| AKR7L | KIF2A | psi-mi:“MI:0914”(association) | 0.350 |
| LINC02910 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.350 |
| C2CD6 | ACACB | psi-mi:“MI:0914”(association) | 0.350 |
| ANKRD50 | PPP1R12A | psi-mi:“MI:0914”(association) | 0.350 |
| ANAPC15 | U2SURP | psi-mi:“MI:0914”(association) | 0.350 |
| GAGE2E | WDR46 | psi-mi:“MI:0914”(association) | 0.350 |
| H2AJ | WDR46 | psi-mi:“MI:0914”(association) | 0.350 |
| SERF2 | WDR46 | psi-mi:“MI:0914”(association) | 0.350 |
| NDC80 | WDR46 | psi-mi:“MI:0914”(association) | 0.350 |
| CKAP2 | WDR46 | psi-mi:“MI:0914”(association) | 0.350 |
| GNL2 | POLR1G | psi-mi:“MI:0914”(association) | 0.350 |
| IFI27L1 | KIF1C | psi-mi:“MI:0914”(association) | 0.350 |
| PSENEN | KIF1C | psi-mi:“MI:0914”(association) | 0.350 |
| LBH | DHX16 | psi-mi:“MI:0914”(association) | 0.350 |
| PEA15 | CLASP2 | psi-mi:“MI:0914”(association) | 0.350 |
| EHHADH | KHDRBS3 | psi-mi:“MI:0914”(association) | 0.350 |
| EMB | RLBP1 | psi-mi:“MI:0914”(association) | 0.350 |
| GNPDA2 | MYH11 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (62): MAP9 (Proximity Label-MS), MAP9 (Proximity Label-MS), MAP9 (Proximity Label-MS), MAP9 (Proximity Label-MS), MAP9 (Proximity Label-MS), MAP9 (Proximity Label-MS), MAP9 (Proximity Label-MS), MAP9 (Proximity Label-MS), MAP9 (Affinity Capture-MS), MAP9 (Proximity Label-MS), MAP9 (Proximity Label-MS), MAP9 (Proximity Label-MS), MAP9 (Proximity Label-MS), MAP9 (Proximity Label-MS), MAP9 (Proximity Label-MS)
ESM2 similar proteins: A0A1W2P884, A2RUB6, A7E3D8, A8MT70, B0CM36, B2RX88, E9PV87, F1PZQ5, O95447, Q09JY9, Q0IIM1, Q15398, Q1G7G9, Q2KHM9, Q2T9X8, Q3KQW7, Q3TRR0, Q3V036, Q49MG5, Q4KLH6, Q4R3Q7, Q4R6Q9, Q5NVK0, Q5RBD6, Q5RBY6, Q5SZL2, Q5TB80, Q5TID7, Q5VX52, Q66H16, Q66H34, Q6A000, Q6AYN9, Q6DF94, Q6NS45, Q6ZQ06, Q7ZX27, Q80VP2, Q80ZU5, Q86VQ0
Diamond homologs: Q3TRR0, Q49MG5
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| AURKA | up-regulates | MAP9 | phosphorylation |
| PLK1 | up-regulates | MAP9 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 58 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 |
|---|---|---|---|
| cell division | 8 | 7.1× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
101 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 83 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2194 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:155352591:CCT:C | donor_loss | 1.0000 |
| 4:155352592:CTACC:C | donor_loss | 1.0000 |
| 4:155352593:TACC:T | donor_loss | 1.0000 |
| 4:155352594:A:AC | donor_gain | 1.0000 |
| 4:155352594:A:AG | donor_loss | 1.0000 |
| 4:155352594:ACCAG:A | donor_gain | 1.0000 |
| 4:155352595:C:CC | donor_gain | 1.0000 |
| 4:155352595:C:CG | donor_loss | 1.0000 |
| 4:155352595:CCAG:C | donor_gain | 1.0000 |
| 4:155352595:CCAGC:C | donor_gain | 1.0000 |
| 4:155352936:T:C | donor_gain | 1.0000 |
| 4:155353177:A:AC | donor_gain | 1.0000 |
| 4:155353178:C:CC | donor_gain | 1.0000 |
| 4:155353189:T:TA | donor_gain | 1.0000 |
| 4:155353191:T:TA | donor_gain | 1.0000 |
| 4:155353336:TTTTT:T | acceptor_gain | 1.0000 |
| 4:155353337:TTTT:T | acceptor_gain | 1.0000 |
| 4:155353338:TTT:T | acceptor_gain | 1.0000 |
| 4:155353339:TT:T | acceptor_gain | 1.0000 |
| 4:155353340:TC:T | acceptor_loss | 1.0000 |
| 4:155353341:C:CC | acceptor_gain | 1.0000 |
| 4:155353341:CTA:C | acceptor_loss | 1.0000 |
| 4:155353344:CAG:C | acceptor_gain | 1.0000 |
| 4:155353345:A:T | acceptor_gain | 1.0000 |
| 4:155353346:G:C | acceptor_gain | 1.0000 |
| 4:155353346:G:GC | acceptor_gain | 1.0000 |
| 4:155360163:AATAC:A | donor_loss | 1.0000 |
| 4:155360164:ATACC:A | donor_loss | 1.0000 |
| 4:155360165:TACC:T | donor_loss | 1.0000 |
| 4:155360166:ACC:A | donor_loss | 1.0000 |
AlphaMissense
4329 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:155355157:A:G | W432R | 0.998 |
| 4:155355157:A:T | W432R | 0.998 |
| 4:155353295:A:G | W476R | 0.997 |
| 4:155353295:A:T | W476R | 0.997 |
| 4:155353298:C:G | A475P | 0.997 |
| 4:155353293:C:A | W476C | 0.996 |
| 4:155353293:C:G | W476C | 0.996 |
| 4:155355155:C:A | W432C | 0.996 |
| 4:155355155:C:G | W432C | 0.996 |
| 4:155353045:A:G | W519R | 0.995 |
| 4:155353045:A:T | W519R | 0.995 |
| 4:155353316:C:G | A469P | 0.994 |
| 4:155353043:C:A | W519C | 0.993 |
| 4:155353043:C:G | W519C | 0.993 |
| 4:155353289:C:G | A478P | 0.992 |
| 4:155353294:C:G | W476S | 0.992 |
| 4:155355721:A:C | Y429D | 0.992 |
| 4:155355731:C:A | R425S | 0.992 |
| 4:155355731:C:G | R425S | 0.992 |
| 4:155375014:A:G | L28P | 0.992 |
| 4:155352913:A:G | W563R | 0.991 |
| 4:155352913:A:T | W563R | 0.991 |
| 4:155353271:C:G | A484P | 0.991 |
| 4:155375779:G:C | F24L | 0.991 |
| 4:155375779:G:T | F24L | 0.991 |
| 4:155375781:A:G | F24L | 0.991 |
| 4:155374997:C:G | A34P | 0.990 |
| 4:155353020:A:G | L527P | 0.989 |
| 4:155353052:A:C | F516L | 0.989 |
| 4:155353052:A:T | F516L | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000069207 (4:155357827 G>C), RS10001550 (4:155352284 T>A,G), RS1000162264 (4:155366235 T>C), RS1000209259 (4:155371091 T>C), RS1000213002 (4:155370506 C>T), RS1000263284 (4:155346151 G>A), RS1000339923 (4:155351711 T>A), RS1000411807 (4:155364610 C>T), RS10004913 (4:155353432 T>G), RS10007738 (4:155363044 G>C), RS1000797466 (4:155376695 C>T), RS1000811125 (4:155372454 TTCTA>T), RS10008263 (4:155363760 C>T), RS1001079346 (4:155345105 T>C), RS1001092863 (4:155375432 C>A)
Disease associations
OMIM: gene MIM:610070 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007269_230 | Pulse pressure | 1.000000e-10 |
| GCST009218_7 | Lateral ventricle temporal horn volume | 3.000000e-08 |
| GCST010774_8 | Essential hypertension (time to event) | 1.000000e-07 |
| GCST010867_59 | Coronary artery disease | 5.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005763 | pulse pressure measurement |
| EFO:0004918 | age at diagnosis |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 4 |
| bisphenol A | decreases expression, increases methylation | 2 |
| trichostatin A | affects cotreatment, decreases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| cypermethrin | 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, decreases expression | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| jinfukang | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Vorinostat | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Carbamazepine | affects expression | 1 |
| Clorgyline | increases expression | 1 |
| Lead | affects expression | 1 |
| Mercury | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Dihydrotestosterone | increases expression | 1 |
| Thimerosal | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
| Magnetite Nanoparticles | increases methylation | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): essential hypertension