MTUS2
gene geneOn this page
Also known as TIP150CAZIPICIS
Summary
MTUS2 (microtubule associated scaffold protein 2, HGNC:20595) is a protein-coding gene on chromosome 13q12.3, encoding Microtubule-associated tumor suppressor candidate 2 (Q5JR59). Binds microtubules.
Enables microtubule binding activity and protein homodimerization activity. Located in centrosome; cytoplasmic microtubule; and intercellular bridge. Part of nucleus.
Source: NCBI Gene 23281 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 88 total — 1 likely-pathogenic
- MANE Select transcript:
NM_001033602
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20595 |
| Approved symbol | MTUS2 |
| Name | microtubule associated scaffold protein 2 |
| Location | 13q12.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TIP150, CAZIP, ICIS |
| Ensembl gene | ENSG00000132938 |
| Ensembl biotype | protein_coding |
| OMIM | 619358 |
| Entrez | 23281 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 4 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000255289, ENST00000380808, ENST00000400542, ENST00000467990, ENST00000542829, ENST00000612955, ENST00000948542
RefSeq mRNA: 6 — MANE Select: NM_001033602
NM_001033602, NM_001366650, NM_001366651, NM_001384605, NM_001384606, NM_015233
CCDS: CCDS41874, CCDS45022
Canonical transcript exons
ENST00000612955 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000906642 | 29033885 | 29034125 |
| ENSE00001132221 | 29492646 | 29492719 |
| ENSE00001132224 | 29487900 | 29488005 |
| ENSE00001132234 | 29439983 | 29440049 |
| ENSE00001132241 | 29359262 | 29359473 |
| ENSE00001132250 | 29324613 | 29324711 |
| ENSE00001132257 | 29281704 | 29281865 |
| ENSE00003481621 | 29480150 | 29480364 |
| ENSE00003504164 | 29501097 | 29501194 |
| ENSE00003509890 | 29497238 | 29497336 |
| ENSE00003544958 | 29100773 | 29100970 |
| ENSE00003554653 | 29498418 | 29498537 |
| ENSE00003720590 | 29024457 | 29026903 |
| ENSE00003730700 | 28820339 | 28820611 |
| ENSE00003739288 | 28839778 | 28839850 |
| ENSE00003739860 | 29502993 | 29505947 |
Expression profiles
Bgee: expression breadth ubiquitous, 194 present calls, max score 94.68.
FANTOM5 (CAGE): breadth broad, TPM avg 1.6785 / max 184.7703, expressed in 313 samples.
FANTOM5 promoters (12 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 134587 | 0.6598 | 159 |
| 134594 | 0.2826 | 113 |
| 134588 | 0.2195 | 70 |
| 134586 | 0.1515 | 71 |
| 134595 | 0.1489 | 49 |
| 134598 | 0.0835 | 27 |
| 206990 | 0.0378 | 10 |
| 134590 | 0.0362 | 20 |
| 134596 | 0.0190 | 9 |
| 134597 | 0.0188 | 10 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| heart right ventricle | UBERON:0002080 | 94.68 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 94.03 | gold quality |
| myocardium | UBERON:0002349 | 92.49 | gold quality |
| cardiac ventricle | UBERON:0002082 | 91.65 | gold quality |
| apex of heart | UBERON:0002098 | 91.58 | gold quality |
| heart left ventricle | UBERON:0002084 | 91.56 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 90.60 | gold quality |
| cardiac atrium | UBERON:0002081 | 89.64 | gold quality |
| right atrium auricular region | UBERON:0006631 | 89.32 | gold quality |
| heart | UBERON:0000948 | 89.00 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 85.45 | gold quality |
| ascending aorta | UBERON:0001496 | 85.16 | gold quality |
| thoracic aorta | UBERON:0001515 | 85.04 | gold quality |
| primary visual cortex | UBERON:0002436 | 84.25 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 84.08 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.00 | gold quality |
| body of pancreas | UBERON:0001150 | 82.79 | gold quality |
| cortical plate | UBERON:0005343 | 82.13 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.50 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 80.67 | gold quality |
| pancreas | UBERON:0001264 | 80.32 | gold quality |
| occipital lobe | UBERON:0002021 | 79.85 | gold quality |
| buccal mucosa cell | CL:0002336 | 79.63 | silver quality |
| islet of Langerhans | UBERON:0000006 | 78.64 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 78.17 | gold quality |
| secondary oocyte | CL:0000655 | 77.08 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 76.35 | gold quality |
| right frontal lobe | UBERON:0002810 | 76.30 | gold quality |
| pituitary gland | UBERON:0000007 | 76.24 | gold quality |
| cerebellar cortex | UBERON:0002129 | 76.05 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 1413.18 |
| E-MTAB-5061 | yes | 15.22 |
| E-GEOD-83139 | yes | 8.91 |
| E-ANND-3 | yes | 5.70 |
| E-ENAD-27 | no | 129.93 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
102 targeting MTUS2, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-6499-3P | 99.90 | 66.38 | 1212 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-7978 | 99.86 | 66.90 | 856 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-383-3P | 99.85 | 65.84 | 1359 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-5010-3P | 99.83 | 70.60 | 2357 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-34B-5P | 99.78 | 67.56 | 1175 |
Literature-anchored findings (GeneRIF, showing 6)
- TIP150 facilitates the EB1-dependent loading of MCAK onto MT plus ends and orchestrates the dynamics at the plus end of MTs. (PMID:19543227)
- These results suggest a role for CAZIP in development and function of the heart and nervous system in vertebrates. (PMID:19806667)
- TIP150-EB1 interaction governs kinetochore microtubule plus-end plasticity and establish that the temporal control of the TIP150-EB1 interaction by PCAF acetylation ensures chromosome stability in mitosis. (PMID:23595990)
- A dynamic interaction of MCAK-TIP150 orchestrated by Aurora A-mediated phosphorylation governs entosis via regulating microtubule plus-end dynamics and cell rigidity. (PMID:24847103)
- a dynamic TIP150-cortactin interaction orchestrates directional cell migration via coupling dynamic microtubule plus ends to the cortical cytoskeleton. (PMID:27451391)
- Whole genome-wide sequence analysis of long-lived families (Long-Life Family Study) identifies MTUS2 gene associated with late-onset Alzheimer’s disease. (PMID:38380866)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mtus2a | ENSDARG00000062347 |
| danio_rerio | ENSDARG00000074984 | |
| mus_musculus | Mtus2 | ENSMUSG00000029651 |
| rattus_norvegicus | Mtus2 | ENSRNOG00000032410 |
Paralogs (2): MTUS1 (ENSG00000129422), CCDC69 (ENSG00000198624)
Protein
Protein identifiers
Microtubule-associated tumor suppressor candidate 2 — Q5JR59 (reviewed: Q5JR59)
Alternative names: Cardiac zipper protein, Microtubule plus-end tracking protein TIP150
All UniProt accessions (1): Q5JR59
UniProt curated annotations — full annotation on UniProt →
Function. Binds microtubules. Together with MAPRE1 may target the microtubule depolymerase KIF2C to the plus-end of microtubules. May regulate the dynamics of microtubules at their growing distal tip.
Subunit / interactions. Homodimer. Interacts with KIF2C and MAPRE1; the interaction is direct and probably targets MTUS2 and KIF2C to microtubules.
Subcellular location. Cytoplasm. Cytoskeleton.
Tissue specificity. Detected in embryonic stem cells differentiating to cardiomyocytes.
Similarity. In the C-terminal section; belongs to the MTUS1 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5JR59-2 | 1 | yes |
| Q5JR59-3 | 2 | |
| Q5JR59-4 | 3 |
RefSeq proteins (6): NP_001028774, NP_001353579, NP_001353580, NP_001371534, NP_001371535, NP_056048 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR051293 | MTUS1/CCDC69 | Family |
UniProt features (24 total): region of interest 10, compositionally biased region 6, splice variant 3, sequence variant 2, chain 1, coiled-coil region 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5JR59-F1 | 52.20 | 0.21 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 90 (showing top):
YAGI_AML_WITH_INV_16_TRANSLOCATION, GAUSSMANN_MLL_AF4_FUSION_TARGETS_E_UP, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOCC_CENTROSOME, GOCC_INTERCELLULAR_BRIDGE, GOCC_CYTOPLASMIC_MICROTUBULE, GOMF_PROTEIN_DIMERIZATION_ACTIVITY, GOMF_PROTEIN_HOMODIMERIZATION_ACTIVITY, GOMF_CYTOSKELETAL_PROTEIN_BINDING, MEISSNER_NPC_HCP_WITH_H3K4ME2, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, PTEN_DN.V1_DN, GSE5503_MLN_DC_VS_SPLEEN_DC_ACTIVATED_ALLOGENIC_TCELL_UP
GO Biological Process (0):
GO Molecular Function (3): microtubule binding (GO:0008017), protein homodimerization activity (GO:0042803), protein binding (GO:0005515)
GO Cellular Component (8): nucleus (GO:0005634), microtubule (GO:0005874), microtubule cytoskeleton (GO:0015630), intercellular bridge (GO:0045171), cytoplasm (GO:0005737), centrosome (GO:0005813), cytoskeleton (GO:0005856), cytoplasmic microtubule (GO:0005881)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| tubulin binding | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| microtubule cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| cytoskeleton | 1 |
| intracellular anatomical structure | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| intracellular membraneless organelle | 1 |
| cytoplasm | 1 |
| microtubule | 1 |
Protein interactions and networks
STRING
2121 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MTUS2 | CTLA4 | P16410 | 926 |
| MTUS2 | CD274 | Q9NZQ7 | 909 |
| MTUS2 | PDCD1 | Q15116 | 884 |
| MTUS2 | HAVCR2 | Q8TDQ0 | 817 |
| MTUS2 | CD4 | P01730 | 803 |
| MTUS2 | TIGIT | Q495A1 | 784 |
| MTUS2 | CD8A | P01732 | 782 |
| MTUS2 | LAG3 | P18627 | 728 |
| MTUS2 | PDCD1LG2 | Q9BQ51 | 720 |
| MTUS2 | EGFR | P00533 | 713 |
| MTUS2 | ALK | Q9UM73 | 699 |
| MTUS2 | BRAF | P15056 | 626 |
| MTUS2 | IFNG | P01579 | 624 |
| MTUS2 | IDO1 | P14902 | 621 |
| MTUS2 | KIF2C | Q99661 | 596 |
IntAct
572 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PSMA1 | MTUS2 | psi-mi:“MI:0915”(physical association) | 0.760 |
| MTUS2 | PSMA1 | psi-mi:“MI:0915”(physical association) | 0.760 |
| MTUS2 | PLSCR4 | psi-mi:“MI:0915”(physical association) | 0.740 |
| MTUS2 | ZNF490 | psi-mi:“MI:0915”(physical association) | 0.740 |
| ZNF785 | MTUS2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| FCHSD2 | MTUS2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| MTUS2 | SLC25A6 | psi-mi:“MI:0915”(physical association) | 0.670 |
| ZNF136 | MTUS2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| MTUS2 | ODF1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| MTUS2 | TSGA10IP | psi-mi:“MI:0915”(physical association) | 0.670 |
| ZC2HC1C | MTUS2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| MTUS2 | CCDC60 | psi-mi:“MI:0915”(physical association) | 0.670 |
| MTUS2 | CCDC116 | psi-mi:“MI:0915”(physical association) | 0.670 |
| MTUS2 | ZNF439 | psi-mi:“MI:0915”(physical association) | 0.670 |
| MTUS2 | C1orf216 | psi-mi:“MI:0915”(physical association) | 0.670 |
| MTUS2 | LNX1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| RHPN1 | MTUS2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| MTUS2 | PKP2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| MTUS2 | ZNF581 | psi-mi:“MI:0915”(physical association) | 0.670 |
| MTUS2 | NDOR1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| DCTN4 | MTUS2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| SPG7 | MTUS2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| MTUS2 | FCHSD2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| MTUS2 | TSHZ3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIM42 | MTUS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MTUS2 | ZNF572 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DCDC2B | MTUS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GTPBP10 | MTUS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (513): MTUS2 (Two-hybrid), MTUS2 (Two-hybrid), MTUS2 (Two-hybrid), MTUS2 (Two-hybrid), MTUS2 (Two-hybrid), MTUS2 (Two-hybrid), MTUS2 (Two-hybrid), MTUS2 (Two-hybrid), MTUS2 (Two-hybrid), MTUS2 (Two-hybrid), MTUS2 (Two-hybrid), MTUS2 (Two-hybrid), MTUS2 (Two-hybrid), MTUS2 (Two-hybrid), MTUS2 (Two-hybrid)
ESM2 similar proteins: A2A995, A2ALU4, A4IGN8, A6NMK8, D3ZUI5, E1C2Q8, F1QGH6, O54931, O75128, O75363, O75410, O95425, P24275, P24588, P51827, Q1LWM5, Q1RMS0, Q1W617, Q3UHI0, Q3UMF0, Q3ZB98, Q499V8, Q53SF7, Q5JR59, Q5NBX1, Q5VWT5, Q5ZJ26, Q62394, Q66KC9, Q673G8, Q69ZL1, Q6GQV1, Q6INC4, Q6QZN6, Q6WKZ4, Q6Y685, Q7TP36, Q7TS75, Q80YN3, Q8BI29
Diamond homologs: A0JMQ7, A6NI79, A6QNP9, A7MC22, Q08AV7, Q0IHN7, Q17QT2, Q3TCJ8, Q3UHD3, Q5HZI1, Q5JR59, Q5R9I1, Q6DCD4, Q6IMY1, Q7SZL5, Q9ULD2
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 149 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 |
|---|---|---|---|
| Regulation of TP53 Activity through Phosphorylation | 7 | 9.5× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
88 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 67 |
| Likely benign | 4 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 979362 | GRCh37/hg19 13q12.12-12.3(chr13:23775339-30534624)x3 | Likely pathogenic |
SpliceAI
1775 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:29492640:TTCCA:T | acceptor_loss | 1.0000 |
| 13:29492641:TCCAG:T | acceptor_loss | 1.0000 |
| 13:29492642:CCA:C | acceptor_loss | 1.0000 |
| 13:29492643:CAGAA:C | acceptor_loss | 1.0000 |
| 13:29492644:A:AG | acceptor_gain | 1.0000 |
| 13:29492644:A:T | acceptor_loss | 1.0000 |
| 13:29492645:G:GC | acceptor_loss | 1.0000 |
| 13:29492645:G:GG | acceptor_gain | 1.0000 |
| 13:29492645:GA:G | acceptor_gain | 1.0000 |
| 13:29492645:GAAT:G | acceptor_gain | 1.0000 |
| 13:29492645:GAATT:G | acceptor_gain | 1.0000 |
| 13:29492716:GCAG:G | donor_gain | 1.0000 |
| 13:29492718:AGGT:A | donor_loss | 1.0000 |
| 13:29492719:GGT:G | donor_loss | 1.0000 |
| 13:29492720:G:C | donor_loss | 1.0000 |
| 13:29492721:T:A | donor_loss | 1.0000 |
| 13:29497312:G:GT | donor_gain | 1.0000 |
| 13:29497334:G:GT | donor_gain | 1.0000 |
| 13:29497371:G:GT | donor_gain | 1.0000 |
| 13:29497449:G:GT | donor_gain | 1.0000 |
| 13:29497526:GCT:G | donor_gain | 1.0000 |
| 13:29497543:C:G | donor_gain | 1.0000 |
| 13:29501092:T:TA | acceptor_gain | 1.0000 |
| 13:29501095:A:AG | acceptor_gain | 1.0000 |
| 13:29501095:AG:A | acceptor_gain | 1.0000 |
| 13:29501096:G:A | acceptor_loss | 1.0000 |
| 13:29501096:G:GT | acceptor_gain | 1.0000 |
| 13:29501096:GG:G | acceptor_gain | 1.0000 |
| 13:29501096:GGC:G | acceptor_gain | 1.0000 |
| 13:29501096:GGCA:G | acceptor_gain | 1.0000 |
AlphaMissense
8960 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:29026629:T:C | I644T | 0.999 |
| 13:29026629:T:G | I644S | 0.999 |
| 13:29026632:T:A | I645N | 0.999 |
| 13:29497254:T:C | L1199P | 0.999 |
| 13:29501158:T:C | L1287P | 0.999 |
| 13:29502998:T:C | L1301P | 0.999 |
| 13:29503019:T:C | L1308P | 0.999 |
| 13:29503082:T:C | L1329P | 0.999 |
| 13:29026632:T:C | I645T | 0.998 |
| 13:29026632:T:G | I645S | 0.998 |
| 13:29492703:T:C | L1188P | 0.998 |
| 13:29492706:G:C | R1189P | 0.998 |
| 13:29492709:T:C | L1190P | 0.998 |
| 13:29497242:A:C | Q1195P | 0.998 |
| 13:29497286:G:C | A1210P | 0.998 |
| 13:29497304:G:C | A1216P | 0.998 |
| 13:29498464:T:C | L1242P | 0.998 |
| 13:29501137:T:C | L1280P | 0.998 |
| 13:29503012:G:C | A1306P | 0.998 |
| 13:29503061:T:C | L1322S | 0.998 |
| 13:29503067:G:C | R1324P | 0.998 |
| 13:29026621:G:C | R641S | 0.997 |
| 13:29026621:G:T | R641S | 0.997 |
| 13:29026644:G:C | R649T | 0.997 |
| 13:29026644:G:T | R649M | 0.997 |
| 13:29026645:G:C | R649S | 0.997 |
| 13:29026645:G:T | R649S | 0.997 |
| 13:29492718:A:C | Q1193P | 0.997 |
| 13:29497275:T:C | L1206P | 0.997 |
| 13:29497295:T:C | F1213L | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000000306 (13:29280743 G>A), RS1000000488 (13:29006246 T>C), RS1000004691 (13:29000776 C>T), RS1000008285 (13:29124870 G>A), RS1000008877 (13:29053276 C>T), RS1000009060 (13:28965113 A>G), RS1000015001 (13:29368953 T>C), RS1000016991 (13:29242210 C>G,T), RS1000024531 (13:29497306 C>T), RS1000044602 (13:28839082 A>G), RS1000045832 (13:29004734 C>G), RS1000049565 (13:29241990 C>T), RS1000058268 (13:29320510 G>A), RS1000062772 (13:29053512 A>G), RS1000064625 (13:29286798 C>T)
Disease associations
OMIM: gene MIM:619358 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000523_3 | Methotrexate pharmacokinetics (acute lymphoblastic leukemia) | 6.000000e-06 |
| GCST001586_6 | Insomnia (caffeine-induced) | 4.000000e-06 |
| GCST001762_818 | Obesity-related traits | 8.000000e-06 |
| GCST003008_8 | Triptolide cytotoxicity | 7.000000e-06 |
| GCST011743_54 | HDL cholesterol levels in HIV infection | 3.000000e-06 |
| GCST012100_3 | Hypertrophic cardiomyopathy (sarcomere positive) | 2.000000e-08 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007876 | insomnia measurement |
| EFO:0005134 | amino acid measurement |
| EFO:0006952 | cytotoxicity measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, increases methylation | 6 |
| sodium arsenite | affects methylation, decreases expression, increases expression | 3 |
| Cadmium | increases abundance, increases expression, decreases expression | 2 |
| bisphenol A | affects cotreatment, decreases methylation, affects methylation | 1 |
| N-acetyl-4-benzoquinoneimine | affects response to substance | 1 |
| aflatoxin B2 | increases methylation | 1 |
| entinostat | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Resveratrol | decreases expression, affects cotreatment | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Copper | affects cotreatment, decreases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Dihydrotestosterone | increases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Triclosan | decreases expression | 1 |
| Cyclosporine | increases methylation | 1 |
| Cadmium Chloride | increases abundance, increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.