TBC1D9
gene geneOn this page
Also known as KIAA0882MDR1GRAMD9
Summary
TBC1D9 (TBC1 domain family member 9, HGNC:21710) is a protein-coding gene on chromosome 4q31.21, encoding TBC1 domain family member 9 (Q6ZT07). May act as a GTPase-activating protein for Rab family protein(s).
Predicted to enable GTPase activator activity.
Source: NCBI Gene 23158 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 151 total
- MANE Select transcript:
NM_015130
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21710 |
| Approved symbol | TBC1D9 |
| Name | TBC1 domain family member 9 |
| Location | 4q31.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0882, MDR1, GRAMD9 |
| Ensembl gene | ENSG00000109436 |
| Ensembl biotype | protein_coding |
| OMIM | 618035 |
| Entrez | 23158 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 4 protein_coding, 2 retained_intron
ENST00000442267, ENST00000502786, ENST00000514787, ENST00000855917, ENST00000970329, ENST00000970330
RefSeq mRNA: 1 — MANE Select: NM_015130
NM_015130
CCDS: CCDS47136
Canonical transcript exons
ENST00000442267 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000800757 | 140624116 | 140624219 |
| ENSE00000800760 | 140624314 | 140624388 |
| ENSE00000800761 | 140627441 | 140627527 |
| ENSE00000800773 | 140669634 | 140669804 |
| ENSE00000800774 | 140670720 | 140670926 |
| ENSE00000927398 | 140657097 | 140657226 |
| ENSE00000927405 | 140668917 | 140669067 |
| ENSE00001139031 | 140628300 | 140628365 |
| ENSE00001139065 | 140657527 | 140657812 |
| ENSE00001191357 | 140678942 | 140679203 |
| ENSE00001191363 | 140679615 | 140679843 |
| ENSE00001191571 | 140686344 | 140686462 |
| ENSE00001747040 | 140620782 | 140622917 |
| ENSE00002040929 | 140755916 | 140756385 |
| ENSE00002495638 | 140659588 | 140659705 |
| ENSE00002503945 | 140661893 | 140662107 |
| ENSE00002515804 | 140701504 | 140701614 |
| ENSE00003652647 | 140676894 | 140677101 |
| ENSE00003988708 | 140633948 | 140634188 |
| ENSE00003988722 | 140639330 | 140639428 |
| ENSE00003988734 | 140639086 | 140639154 |
Expression profiles
Bgee: expression breadth ubiquitous, 287 present calls, max score 98.10.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.8355 / max 140.9170, expressed in 1651 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 54134 | 7.1998 | 1568 |
| 54140 | 6.7475 | 1289 |
| 54139 | 1.0721 | 433 |
| 54138 | 0.5209 | 301 |
| 54136 | 0.4362 | 224 |
| 54137 | 0.3066 | 157 |
| 54135 | 0.3011 | 154 |
| 54133 | 0.2512 | 114 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mammary duct | UBERON:0001765 | 98.10 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 97.88 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 97.68 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 97.02 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 96.02 | gold quality |
| seminal vesicle | UBERON:0000998 | 95.43 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 95.17 | gold quality |
| mammary gland | UBERON:0001911 | 95.12 | gold quality |
| visceral pleura | UBERON:0002401 | 95.04 | gold quality |
| pleura | UBERON:0000977 | 94.92 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 94.87 | gold quality |
| parietal pleura | UBERON:0002400 | 94.85 | gold quality |
| pons | UBERON:0000988 | 94.48 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 94.17 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 94.00 | gold quality |
| cerebellar vermis | UBERON:0004720 | 93.98 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 93.97 | gold quality |
| endothelial cell | CL:0000115 | 93.80 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 93.72 | gold quality |
| corpus epididymis | UBERON:0004359 | 93.61 | gold quality |
| renal medulla | UBERON:0000362 | 93.52 | gold quality |
| postcentral gyrus | UBERON:0002581 | 92.96 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 92.88 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 92.84 | gold quality |
| parietal lobe | UBERON:0001872 | 92.63 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 92.59 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 92.41 | gold quality |
| bronchial epithelial cell | CL:0002328 | 92.32 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 92.08 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 92.00 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-131882 | yes | 1009.46 |
| E-CURD-119 | yes | 46.72 |
| E-HCAD-10 | yes | 19.53 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
134 targeting TBC1D9, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| 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-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| 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-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
Literature-anchored findings (GeneRIF, showing 5)
- Plasma levels of atazanavir were significantly higher in patients with MDR1 genotype CC than in those with CT or TT, and bilirubin levels correlated with atazanavir concentrations. (PMID:16355344)
- CD34+ leukemic subpopulation predominantly displays lower spontaneous apoptosis and has higher expression levels of MDR19TBC1 domain family member 9 (with GRAM domain) ) genes than CD34- cells in childhood AML (PMID:18228020)
- The MDR1 gene CT/TT genotype of C3435T was significantly associated with a shorter progression-free survival (PFS) and overall survival (OS). (PMID:22296392)
- This study concluded that diindolylmethane induces pregnane X receptor -regulated CYP3A4 and MDR1 gene expression. (PMID:25542144)
- TBC1D9 controls TBK1 activation during xenophagy and mitophagy through Ca(2+)-dependent ubiquitin-recognition.TBC1D9 is involved in TBK1 phosphorylation. (PMID:32034138)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tbc1d9 | ENSDARG00000059900 |
| mus_musculus | Tbc1d9 | ENSMUSG00000031709 |
| rattus_norvegicus | Tbc1d9 | ENSRNOG00000003496 |
Paralogs (45): RABGAP1 (ENSG00000011454), TBC1D22A (ENSG00000054611), TBC1D22B (ENSG00000065491), TBC1D1 (ENSG00000065882), EVI5 (ENSG00000067208), TBC1D25 (ENSG00000068354), TBC1D2 (ENSG00000095383), TBC1D10A (ENSG00000099992), SGSM3 (ENSG00000100359), TBC1D17 (ENSG00000104946), TBC1D13 (ENSG00000107021), TBC1D12 (ENSG00000108239), TBC1D30 (ENSG00000111490), TBC1D15 (ENSG00000121749), TBC1D5 (ENSG00000131374), TBC1D14 (ENSG00000132405), TBC1D8B (ENSG00000133138), TBC1D4 (ENSG00000136111), GRTP1 (ENSG00000139835), SGSM2 (ENSG00000141258), EVI5L (ENSG00000142459), TBCK (ENSG00000145348), USP6NL (ENSG00000148429), RABGAP1L (ENSG00000152061), SGSM1 (ENSG00000167037), TBC1D21 (ENSG00000167139), TBC1D2B (ENSG00000167202), TBC1D16 (ENSG00000167291), TBC1D10B (ENSG00000169221), TBC1D10C (ENSG00000175463), TBC1D28 (ENSG00000189375), TBC1D9B (ENSG00000197226), TBC1D8 (ENSG00000204634), TBC1D26 (ENSG00000214946), TBC1D3G (ENSG00000260287), TBC1D3K (ENSG00000273513), TBC1D3H (ENSG00000274226), TBC1D3D (ENSG00000274419), TBC1D3L (ENSG00000274512), TBC1D3 (ENSG00000274611)
Protein
Protein identifiers
TBC1 domain family member 9 — Q6ZT07 (reviewed: Q6ZT07)
Alternative names: TBC1 domain family member 9A
All UniProt accessions (1): Q6ZT07
UniProt curated annotations — full annotation on UniProt →
Function. May act as a GTPase-activating protein for Rab family protein(s).
Domain organisation. The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rab’s ‘switch 2’ glutamine and insert in Rab’s active site.
RefSeq proteins (1): NP_055945* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000195 | Rab-GAP-TBC_dom | Domain |
| IPR002048 | EF_hand_dom | Domain |
| IPR004182 | GRAM | Domain |
| IPR011992 | EF-hand-dom_pair | Homologous_superfamily |
| IPR011993 | PH-like_dom_sf | Homologous_superfamily |
| IPR035969 | Rab-GAP_TBC_sf | Homologous_superfamily |
| IPR036014 | TCB1D9/TCB1D9B_PH-GRAM1 | Domain |
| IPR036017 | TCB1D9/TCB1D9B_PH-GRAM2 | Domain |
Pfam: PF00566, PF02893
UniProt features (14 total): domain 4, region of interest 3, site 2, sequence variant 2, chain 1, sequence conflict 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6ZT07-F1 | 73.57 | 0.37 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (2): 601 (glutamine finger); 562 (arginine finger)
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 254 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, KOBAYASHI_EGFR_SIGNALING_24HR_UP, MODULE_255, TGCACTT_MIR519C_MIR519B_MIR519A, MODULE_45, GOZGIT_ESR1_TARGETS_DN, MODULE_317, CROONQUIST_NRAS_SIGNALING_UP, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, MODULE_66, DAVICIONI_RHABDOMYOSARCOMA_PAX_FOXO1_FUSION_UP, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_UP, WANG_LMO4_TARGETS_DN, SMID_BREAST_CANCER_LUMINAL_B_UP
GO Biological Process (1): system process (GO:0003008)
GO Molecular Function (3): GTPase activator activity (GO:0005096), calcium ion binding (GO:0005509), protein binding (GO:0005515)
GO Cellular Component (0):
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| multicellular organismal process | 1 |
| GTPase activity | 1 |
| enzyme activator activity | 1 |
| GTPase regulator activity | 1 |
| metal ion binding | 1 |
| binding | 1 |
Protein interactions and networks
STRING
926 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TBC1D9 | RAB5A | P20339 | 688 |
| TBC1D9 | ELMOD2 | Q8IZ81 | 559 |
| TBC1D9 | CALCOCO2 | Q13137 | 514 |
| TBC1D9 | ESR1 | P03372 | 501 |
| TBC1D9 | UBASH3B | Q8TF42 | 455 |
| TBC1D9 | RNF150 | Q9ULK6 | 444 |
| TBC1D9 | TBC1D21 | Q8IYX1 | 440 |
| TBC1D9 | KCNAB3 | O43448 | 431 |
| TBC1D9 | KCNH3 | Q9ULD8 | 427 |
| TBC1D9 | SGSM1 | Q2NKQ1 | 424 |
| TBC1D9 | TBC1D17 | Q9HA65 | 423 |
| TBC1D9 | GAD1 | Q99259 | 417 |
| TBC1D9 | ATP6V1G2 | O95670 | 413 |
| TBC1D9 | ARPP21 | Q9UBL0 | 410 |
| TBC1D9 | ITPKA | P23677 | 409 |
| TBC1D9 | BAIAP2 | Q9UQB8 | 409 |
IntAct
30 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TBC1D9 | ABHD16A | psi-mi:“MI:0914”(association) | 0.640 |
| EPHA1 | EXOC5 | psi-mi:“MI:0914”(association) | 0.530 |
| TBC1D9 | MYCBP2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TBC1D9 | SRSF2 | psi-mi:“MI:0914”(association) | 0.350 |
| ADAM10 | TSPAN9 | psi-mi:“MI:0914”(association) | 0.350 |
| LANCL1 | MYO7A | psi-mi:“MI:0914”(association) | 0.350 |
| EXOC5 | psi-mi:“MI:0914”(association) | 0.350 | |
| YWHAG | HNRNPD | psi-mi:“MI:0914”(association) | 0.350 |
| HIDE1 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| LRRC25 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| EFNB1 | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| FAXC | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| KIR2DL4 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| C3orf18 | EXOC5 | psi-mi:“MI:0914”(association) | 0.350 |
| ARL8A | DNAJC13 | psi-mi:“MI:0914”(association) | 0.350 |
| CTAG2 | PCNT | psi-mi:“MI:0914”(association) | 0.350 |
| SUN3 | GAS6 | psi-mi:“MI:0914”(association) | 0.350 |
| TBC1D9 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.350 |
| BTNL9 | TNPO2 | psi-mi:“MI:0914”(association) | 0.350 |
| CTAG2 | ASMTL | psi-mi:“MI:0914”(association) | 0.350 |
| FPR1 | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
| FZD10 | PDE2A | psi-mi:“MI:0914”(association) | 0.350 |
| SRPRB | GSDME | psi-mi:“MI:0914”(association) | 0.350 |
| TBC1D9 | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| MAP1LC3C | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (73): TBC1D9 (Affinity Capture-MS), PRICKLE3 (Affinity Capture-MS), SRSF2 (Affinity Capture-MS), SNRPE (Affinity Capture-MS), SSB (Affinity Capture-MS), YME1L1 (Affinity Capture-MS), DDX41 (Affinity Capture-MS), PRPF38B (Affinity Capture-MS), ABHD16A (Affinity Capture-MS), TBC1D9B (Affinity Capture-MS), TMEM55A (Affinity Capture-MS), TBC1D9 (Affinity Capture-MS), MRS2 (Affinity Capture-MS), CPT1A (Affinity Capture-MS), TBC1D9 (Affinity Capture-MS)
ESM2 similar proteins: A0A0B7P9G0, A0A131MCZ8, A2PYH4, A3QM97, B4JXX2, B4QZU1, E1BPX4, G5EBX9, O00835, O13768, O14072, O74431, P32639, P36583, P36775, P38329, P39986, P40527, P47047, P53273, P53914, P87115, P91119, P92006, Q07093, Q09769, Q12296, Q21029, Q3UYK3, Q55EJ3, Q67XQ0, Q6BMW3, Q6CNR9, Q6FPE6, Q6P4Q7, Q6ZT07, Q84K47, Q8RY60, Q9BMK9, Q9FKF2
Diamond homologs: A0A087WVF3, A0A087WXS9, A0A087X179, A0A087X1G2, A2AWA9, A3KGB4, A6H6A9, A6NDS4, A6NER0, A6QP29, B0R0W9, B7ZAP0, B9A6J9, H2KZZ6, O60343, O60447, O95759, O97790, P0C7X1, P35125, P58802, P97366, Q0IIM8, Q10496, Q12317, Q12344, Q28CB1, Q3UYK3, Q4KMP7, Q5R372, Q5RAN1, Q5RCW6, Q5SVR0, Q5TC63, Q5ZJ17, Q60949, Q66K14, Q6DHY5, Q6IPX1, Q6ZT07
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
151 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 123 |
| Likely benign | 4 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3866 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:140622913:TGCCC:T | acceptor_gain | 1.0000 |
| 4:140622914:GCCC:G | acceptor_gain | 1.0000 |
| 4:140622915:CCC:C | acceptor_gain | 1.0000 |
| 4:140622915:CCCC:C | acceptor_gain | 1.0000 |
| 4:140622916:CC:C | acceptor_gain | 1.0000 |
| 4:140622916:CCC:C | acceptor_gain | 1.0000 |
| 4:140622917:CC:C | acceptor_gain | 1.0000 |
| 4:140622918:C:CC | acceptor_gain | 1.0000 |
| 4:140624215:CTTCC:C | acceptor_gain | 1.0000 |
| 4:140624218:CC:C | acceptor_gain | 1.0000 |
| 4:140624218:CCCT:C | acceptor_loss | 1.0000 |
| 4:140624219:CC:C | acceptor_gain | 1.0000 |
| 4:140624219:CCTA:C | acceptor_loss | 1.0000 |
| 4:140624220:CTAC:C | acceptor_loss | 1.0000 |
| 4:140624221:T:A | acceptor_loss | 1.0000 |
| 4:140624308:CCTTA:C | donor_loss | 1.0000 |
| 4:140624309:CTTAC:C | donor_loss | 1.0000 |
| 4:140624312:A:AC | donor_gain | 1.0000 |
| 4:140624313:C:CC | donor_gain | 1.0000 |
| 4:140624313:C:G | donor_loss | 1.0000 |
| 4:140624386:CAA:C | acceptor_gain | 1.0000 |
| 4:140624389:C:CA | acceptor_loss | 1.0000 |
| 4:140624389:C:CC | acceptor_gain | 1.0000 |
| 4:140624393:C:CT | acceptor_gain | 1.0000 |
| 4:140624393:C:T | acceptor_gain | 1.0000 |
| 4:140624394:A:T | acceptor_gain | 1.0000 |
| 4:140624399:A:AC | acceptor_gain | 1.0000 |
| 4:140624399:A:C | acceptor_gain | 1.0000 |
| 4:140624402:G:C | acceptor_gain | 1.0000 |
| 4:140624402:G:GC | acceptor_gain | 1.0000 |
AlphaMissense
8390 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:140622369:C:A | W1209C | 1.000 |
| 4:140622369:C:G | W1209C | 1.000 |
| 4:140622371:A:G | W1209R | 1.000 |
| 4:140622371:A:T | W1209R | 1.000 |
| 4:140622814:A:G | L1061P | 1.000 |
| 4:140622814:A:T | L1061Q | 1.000 |
| 4:140622817:A:G | L1060P | 1.000 |
| 4:140622820:A:G | L1059P | 1.000 |
| 4:140622901:A:G | L1032P | 1.000 |
| 4:140622910:A:G | F1029S | 1.000 |
| 4:140639111:A:G | L827P | 1.000 |
| 4:140639150:C:G | R814P | 1.000 |
| 4:140657572:A:G | L721P | 1.000 |
| 4:140657682:A:C | S684R | 1.000 |
| 4:140657682:A:T | S684R | 1.000 |
| 4:140657684:T:G | S684R | 1.000 |
| 4:140657698:A:G | L679P | 1.000 |
| 4:140657705:A:G | W677R | 1.000 |
| 4:140657705:A:T | W677R | 1.000 |
| 4:140657779:A:G | L652P | 1.000 |
| 4:140657800:T:A | D645V | 1.000 |
| 4:140657801:C:G | D645H | 1.000 |
| 4:140657812:C:T | G641D | 1.000 |
| 4:140659588:C:G | G641R | 1.000 |
| 4:140659641:A:G | L623P | 1.000 |
| 4:140659648:A:G | W621R | 1.000 |
| 4:140659648:A:T | W621R | 1.000 |
| 4:140659649:G:C | F620L | 1.000 |
| 4:140659649:G:T | F620L | 1.000 |
| 4:140659651:A:G | F620L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000029678 (4:140738343 T>A,G), RS1000032364 (4:140659502 C>T), RS1000046398 (4:140744843 A>G), RS1000073777 (4:140648882 G>A), RS10001070 (4:140726106 T>C), RS10001181 (4:140672198 A>G), RS1000131817 (4:140700239 C>T), RS1000170426 (4:140721050 C>T), RS1000182220 (4:140643477 C>T), RS1000214283 (4:140731666 C>T), RS10002459 (4:140633795 G>A,T), RS1000260693 (4:140681108 T>G), RS1000261396 (4:140643552 T>A,C), RS1000277233 (4:140638421 C>A,G), RS1000312199 (4:140661116 G>A,C)
Disease associations
OMIM: gene MIM:618035 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): attention deficit-hyperactivity disorder (MONDO:0007743)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010725_4 | Malaria | 4.000000e-10 |
| GCST010725_84 | Malaria | 7.000000e-11 |
| GCST010725_89 | Malaria | 7.000000e-11 |
| GCST011957_28 | Prostate cancer | 2.000000e-08 |
| GCST012052_6 | Waist circumference | 8.000000e-07 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| trichostatin A | affects cotreatment, decreases expression | 3 |
| sodium arsenite | decreases expression, increases expression | 2 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Estradiol | affects cotreatment, increases expression, decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| bisphenol F | increases expression, affects cotreatment | 1 |
| triphenyl phosphate | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| testosterone-3-carboxymethyloxime-bovine serum albumin conjugate | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | 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 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | affects cotreatment, increases expression | 1 |
| Bortezomib | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Lead | affects expression | 1 |
| Pesticides | increases methylation | 1 |
| Quercetin | decreases expression | 1 |
| Tetrachlorodibenzodioxin | affects cotreatment, increases expression, decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Valproic Acid | affects expression | 1 |
| 1-Methyl-3-isobutylxanthine | increases expression, affects cotreatment | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00152750 | PHASE4 | UNKNOWN | Study of Clonidine on Sleep Architecture in Children With Tourette’s Syndrome (TS) and Comorbid ADHD |
| NCT00181571 | PHASE4 | COMPLETED | A Double-Blind Comparison of Concerta and Placebo in Adults With Attention Deficit Hyperactivity Disorder |
| NCT00181675 | PHASE4 | COMPLETED | A Double-Blind Comparison of Galantamine HBr and Placebo in Adults With Attention Deficit Hyperactivity Disorder |
| NCT00181714 | PHASE4 | COMPLETED | Prevention of Cigarette Smoking in Attention Deficit Hyperactivity Disorder (ADHD) Youth With Concerta |
| NCT00181948 | PHASE4 | COMPLETED | Strattera Treatment in Children With ADHD Who Have Poor Response to Stimulant Therapy |
| NCT00181987 | PHASE4 | COMPLETED | Concerta in the Treatment of ADHD in Youth and Adults With Bipolar Disorder |
| NCT00190736 | PHASE4 | COMPLETED | Efficacy and Safety of Once-Daily Atomoxetine Hydrochloride in Adults With ADHD Over an Extended Period of Time (6 Months) |
| NCT00190775 | PHASE4 | COMPLETED | A Randomized, Double-Blind Comparison of Placebo and Atomoxetine Hydrochloride Given Once a Day in Adults With Attention-Deficit/Hyperactivity Disorder (ADHD) |
| NCT00190879 | PHASE4 | COMPLETED | Placebo-Controlled Study of Atomoxetine Hydrochloride in the Treatment of Adults With ADHD and Comorbid Social Anxiety Disorder |
| NCT00190957 | PHASE4 | COMPLETED | Atomoxetine Treatment of Adults With ADHD and Comorbid Alcohol Abuse |
| NCT00191035 | PHASE4 | COMPLETED | Maintenance of Benefit With Atomoxetine Hydrochloride in Adolescents With ADHD |
| NCT00191048 | PHASE4 | COMPLETED | Treatment With Atomoxetine Hydrochloride in Children and Adolescents With ADHD |
| NCT00191633 | PHASE4 | COMPLETED | Study of Atomoxetine in Children With ADHD to Assess Symptomatic and Functional Outcomes |
| NCT00191906 | PHASE4 | COMPLETED | Comparison of Atomoxetine and Placebo in Children With Attention-Deficit/Hyperactivity Disorder (ADHD) and/or Reading Disorder (RD) |
| NCT00216918 | PHASE4 | COMPLETED | Neuropsychological Functioning in Children With Attention-Deficit/Hyperactivity Disorder. |
| NCT00221962 | PHASE4 | COMPLETED | Study of Aripiprazole (Abilify) in Children With ADHD (Attention Deficit Hyperactivity Disorder) |
| NCT00223561 | PHASE4 | COMPLETED | Methylphenidate and Driving Ability in Adult Patients With Attention-Deficit Hyperactivity Disorder |
| NCT00299234 | PHASE4 | TERMINATED | Atomoxetine for Children With Acquired Attentional Disorders Following Completion of Chemotherapy for ALL |
| NCT00302406 | PHASE4 | COMPLETED | Naturalistic Substitution of Concerta in Adult Subject With ADHD Receiving Immediate Release Methylphenidate |
| NCT00305370 | PHASE4 | COMPLETED | Aripiprazole Associated With Methylphenidate in Children and Adolescents With Bipolar Disorder and ADHD |
| NCT00381758 | PHASE4 | COMPLETED | The COMACS Study: A Comparison of Methylphenidates in an Analog Classroom Setting |
| NCT00406354 | PHASE4 | COMPLETED | Comparison of Atomoxetine Versus Placebo in Children and Adolescents With ADHD and Comorbid ODD in Germany |
| NCT00434213 | PHASE4 | COMPLETED | Characterization of Dermal Reactions in Pediatric Patients With ADHD Using DAYTRANA |
| NCT00468143 | PHASE4 | COMPLETED | A Within-Subject Cross-Over Comparison Between Immediate Release and Extended Release Adderall |
| NCT00471354 | PHASE4 | COMPLETED | A Study for Patients With Attention-Deficit/Hyperactivity Disorder Treated With Atomoxetine |
| NCT00483106 | PHASE4 | COMPLETED | Clinical and Pharmacogenetic Study of Attention Deficit With Hyperactivity Disorder (ADHD) |
| NCT00485849 | PHASE4 | COMPLETED | A Study of Atomoxetine for Attention Deficit and Hyperactive/Impulsive Behaviour Problems in Children With ASD |
| NCT00485875 | PHASE4 | COMPLETED | Safety and Efficacy of Switching From a Stimulant Medication to Atomoxetine in Children and Adolescents With ADHD |
| NCT00486122 | PHASE4 | COMPLETED | Evaluation of Continuous Symptom Treatment of ADHD |
| NCT00500071 | PHASE4 | COMPLETED | Dose-Optimization Study Evaluating the Efficacy, Safety and Tolerability of Vyvanse (Lisdexamfetamine Dimesylate) in Children Aged 6-12 Diagnosed With ADHD |
| NCT00506727 | PHASE4 | COMPLETED | Analog Classroom Study Comparison of ADDERALL XR With STRATTERA in Children Aged 6-12 With ADHD |
| NCT00510276 | PHASE4 | COMPLETED | Treatment of Attention-Deficit/Hyperactivity Disorder (ADHD) With Atomoxetine in Young Adults and Its Effects on Functional Outcomes |
| NCT00517504 | PHASE4 | COMPLETED | Methylphenidate Study in Young Children With Developmental Disorders |
| NCT00517647 | PHASE4 | COMPLETED | Atomoxetine Pilot Study in Preschool Children With ADHD |
| NCT00518232 | PHASE4 | COMPLETED | A Study to Determine Effective and Tolerable Titration Scheme for OROS-Methylphenidate in Children With Attention-deficit Hyperactivity Disorder |
| NCT00530257 | PHASE4 | COMPLETED | Study of the Effects of Osmotic-Release Oral System (OROS) Methylphenidate (Concerta) on Attention and Memory |
| NCT00536419 | PHASE4 | UNKNOWN | Impact of Attention Deficit/Hyperactivity Disorder and Substance Use Disorder on Motorcycle Traffic Accidents |
| NCT00546910 | PHASE4 | COMPLETED | Comparison of Atomoxetine Versus Placebo in Children With Attention-Deficit/Hyperactivity Disorder (ADHD) |
| NCT00552266 | PHASE4 | UNKNOWN | Methylphenidate in ADHD With Trichotillomania |
| NCT00564954 | PHASE4 | COMPLETED | A Study of Dex-methylphenidate Extended Release in Children (6-12 Years) With Attention-Deficit/Hyperactivity Disorder (ADHD) |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.