TRANK1
geneOn this page
Also known as LBA1KIAA0342
Summary
TRANK1 (tetratricopeptide repeat and ankyrin repeat containing 1, HGNC:29011) is a protein-coding gene on chromosome 3p22.2, encoding TPR and ankyrin repeat-containing protein 1 (O15050).
At a glance
- GWAS associations: 36
- Clinical variants (ClinVar): 499 total
- Phenotypes (HPO): 35
- MANE Select transcript:
NM_001329998
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29011 |
| Approved symbol | TRANK1 |
| Name | tetratricopeptide repeat and ankyrin repeat containing 1 |
| Location | 3p22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | LBA1, KIAA0342 |
| Ensembl gene | ENSG00000168016 |
| Ensembl biotype | protein_coding |
| OMIM | 619316 |
| Entrez | 9881 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 3 protein_coding, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000429976, ENST00000463764, ENST00000463984, ENST00000643881, ENST00000645898, ENST00000646436, ENST00000646897
RefSeq mRNA: 2 — MANE Select: NM_001329998
NM_001329998, NM_014831
CCDS: CCDS46789, CCDS87061
Canonical transcript exons
ENST00000645898 — 24 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001077136 | 36842622 | 36842710 |
| ENSE00001119405 | 36830873 | 36833919 |
| ENSE00001119406 | 36829564 | 36829662 |
| ENSE00001195523 | 36852146 | 36852345 |
| ENSE00001505825 | 36834762 | 36834907 |
| ENSE00001505826 | 36838372 | 36838504 |
| ENSE00001505832 | 36851719 | 36851856 |
| ENSE00001683208 | 36838613 | 36838716 |
| ENSE00003542167 | 36846248 | 36846404 |
| ENSE00003552746 | 36858718 | 36858894 |
| ENSE00003555268 | 36864319 | 36864480 |
| ENSE00003585671 | 36847200 | 36847346 |
| ENSE00003610118 | 36860906 | 36861160 |
| ENSE00003646146 | 36899109 | 36899259 |
| ENSE00003656342 | 36855173 | 36858049 |
| ENSE00003662970 | 36895640 | 36895758 |
| ENSE00003665198 | 36892901 | 36892984 |
| ENSE00003678969 | 36892202 | 36892340 |
| ENSE00003681562 | 36889829 | 36889960 |
| ENSE00003689776 | 36874126 | 36874296 |
| ENSE00003759775 | 36903149 | 36903275 |
| ENSE00003815048 | 36826819 | 36828375 |
| ENSE00003817331 | 36908323 | 36908454 |
| ENSE00003824632 | 36944787 | 36945054 |
Expression profiles
Bgee: expression breadth ubiquitous, 198 present calls, max score 93.67.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.9486 / max 268.1598, expressed in 1589 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 41663 | 5.2775 | 869 |
| 41669 | 2.2209 | 1006 |
| 41668 | 1.6931 | 704 |
| 41667 | 1.4781 | 841 |
| 41662 | 0.2791 | 98 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 93.67 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 93.36 | gold quality |
| cerebellar cortex | UBERON:0002129 | 93.24 | gold quality |
| left uterine tube | UBERON:0001303 | 92.86 | gold quality |
| cerebellum | UBERON:0002037 | 91.51 | gold quality |
| jejunal mucosa | UBERON:0000399 | 89.90 | gold quality |
| body of uterus | UBERON:0009853 | 87.41 | gold quality |
| right uterine tube | UBERON:0001302 | 87.03 | gold quality |
| endocervix | UBERON:0000458 | 86.97 | gold quality |
| blood | UBERON:0000178 | 86.64 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 86.45 | gold quality |
| granulocyte | CL:0000094 | 86.39 | gold quality |
| rectum | UBERON:0001052 | 85.94 | gold quality |
| ileal mucosa | UBERON:0000331 | 85.82 | gold quality |
| gall bladder | UBERON:0002110 | 85.61 | gold quality |
| right coronary artery | UBERON:0001625 | 85.44 | gold quality |
| vermiform appendix | UBERON:0001154 | 84.25 | gold quality |
| left ovary | UBERON:0002119 | 84.12 | gold quality |
| thoracic aorta | UBERON:0001515 | 84.09 | gold quality |
| right ovary | UBERON:0002118 | 84.08 | gold quality |
| ascending aorta | UBERON:0001496 | 84.01 | gold quality |
| right frontal lobe | UBERON:0002810 | 83.75 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 83.48 | gold quality |
| bone marrow cell | CL:0002092 | 83.39 | gold quality |
| ectocervix | UBERON:0012249 | 83.08 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 83.03 | gold quality |
| paraflocculus | UBERON:0005351 | 82.76 | gold quality |
| lymph node | UBERON:0000029 | 82.74 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 82.74 | gold quality |
| cerebellar vermis | UBERON:0004720 | 82.51 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.79 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
97 targeting TRANK1, 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-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| 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-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
Literature-anchored findings (GeneRIF, showing 5)
- The results of this study suggested that significant novel association signals near the genes TRANK1 and provide supportive evidence for the previously reported association signals near ANK3 and within the 3p21.1 locus. (PMID:22182935)
- Independent replications and integrative analyses confirm TRANK1 as a susceptibility gene for bipolar disorder. (PMID:32791513)
- Kleine-Levin syndrome is associated with birth difficulties and genetic variants in the TRANK1 gene loci. (PMID:33737391)
- Impaired blood-brain barrier in the microbiota-gut-brain axis: Potential role of bipolar susceptibility gene TRANK1. (PMID:34014031)
- New Evidence of Gut Microbiota Involvement in the Neuropathogenesis of Bipolar Depression by TRANK1 Modulation: Joint Clinical and Animal Data. (PMID:34992606)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Trank1 | ENSMUSG00000062296 |
| rattus_norvegicus | Trank1 | ENSRNOG00000021091 |
| drosophila_melanogaster | CG31038 | FBGN0051038 |
| drosophila_melanogaster | lmgB | FBGN0085470 |
Paralogs (2): FAM89B (ENSG00000176973), FAM89A (ENSG00000182118)
Protein
Protein identifiers
TPR and ankyrin repeat-containing protein 1 — O15050 (reviewed: O15050)
Alternative names: Lupus brain antigen 1 homolog
All UniProt accessions (6): A0A096LPF5, A0A2R8Y7N6, A0A2R8Y890, O15050, A0A2R8Y8A3, A0A2R8YEM9
UniProt curated annotations — full annotation on UniProt →
RefSeq proteins (2): NP_001316927, NP_055646 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002110 | Ankyrin_rpt | Repeat |
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
| IPR019734 | TPR_rpt | Repeat |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR036770 | Ankyrin_rpt-contain_sf | Homologous_superfamily |
| IPR039904 | TRANK1 | Family |
UniProt features (22 total): repeat 10, region of interest 3, compositionally biased region 3, sequence variant 3, chain 1, coiled-coil region 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
No AlphaFold model available for O15050 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 212 (showing top):
MODULE_45, GOZGIT_ESR1_TARGETS_DN, CAIRO_HEPATOBLASTOMA_CLASSES_DN, chr3p22, DAUER_STAT3_TARGETS_DN, MODULE_60, SCHLOSSER_SERUM_RESPONSE_UP, PARENT_MTOR_SIGNALING_UP, LEIN_NEURON_MARKERS, MODULE_15, EBNA1BP2_TARGET_GENES, MIR340_5P, GSE10094_LCMV_VS_LISTERIA_IND_EFF_CD4_TCELL_DN, MIR1297, MIR15A_5P
GO Biological Process (0):
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (0):
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 1 |
Protein interactions and networks
STRING
898 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TRANK1 | TENM4 | Q6N022 | 644 |
| TRANK1 | MAD1L1 | Q9Y6D9 | 624 |
| TRANK1 | SYNE1 | Q8NF91 | 589 |
| TRANK1 | LMAN2L | Q9H0V9 | 549 |
| TRANK1 | CACNB2 | Q08289 | 521 |
| TRANK1 | ITIH3 | Q06033 | 509 |
| TRANK1 | DAOA | P59103 | 508 |
| TRANK1 | CACNA1C | Q13936 | 486 |
| TRANK1 | RASGRP3 | Q8IV61 | 447 |
| TRANK1 | ITIH4 | Q14624 | 444 |
| TRANK1 | ANK3 | Q12955 | 437 |
| TRANK1 | NCAN | O14594 | 435 |
| TRANK1 | VRK2 | Q86Y07 | 435 |
| TRANK1 | NT5C2 | P49902 | 432 |
| TRANK1 | TANC1 | Q9C0D5 | 416 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CBX2 | TRANK1 | psi-mi:“MI:0914”(association) | 0.350 |
| DDX6 | RPSA2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| DISC1 | TRANK1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| purE | TRANK1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (8): TRANK1 (Affinity Capture-MS), TRANK1 (Affinity Capture-MS), TRANK1 (Affinity Capture-RNA), TRANK1 (Affinity Capture-MS), TRANK1 (Cross-Linking-MS (XL-MS)), TRANK1 (Affinity Capture-RNA), TRANK1 (Affinity Capture-MS), TRANK1 (Affinity Capture-MS)
ESM2 similar proteins: A0A0A6YYL3, A0JP26, A2A2Z9, A2RUR9, A6NC57, A6NI47, A6QR20, A8MYB1, A9JSR5, A9ZSY0, B2RU33, B7ZQJ9, F1M5M3, H3BUK9, O15050, P51954, P98182, Q19UN5, Q4UJ75, Q501X2, Q5CZ79, Q5DW34, Q5SQ80, Q5TYW2, Q5VUR7, Q66HB6, Q6NSI1, Q6S545, Q6S5H5, Q6S8J7, Q71S21, Q7TPV2, Q7TSC3, Q7ZT11, Q80X59, Q811D2, Q86Y13, Q86YR6, Q8IVF6, Q8IYA2
Diamond homologs: O15050, Q8BV79, A6ZRW3, F8RP11, O13797, O14217, O16259, O35814, O54981, P07213, P15705, P25407, P31948, P38825, P53041, P53042, Q12118, Q3ZBZ8, Q43468, Q49AM3, Q4R8N7, Q54DA8, Q5WA76, Q5XEP2, Q5ZKQ3, Q60676, Q60864, Q68FQ7, Q7ZWU1, Q80XJ3, Q8BW49, Q8ILC1, Q95LY5, Q96AY4, Q9D4H7, Q9D706, Q9H6T3, Q9H892, Q9HGM9, Q9QYI3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
499 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 434 |
| Likely benign | 40 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4744 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:36828375:CCTG:C | acceptor_loss | 1.0000 |
| 3:36828376:C:CA | acceptor_loss | 1.0000 |
| 3:36829559:CTTA:C | donor_loss | 1.0000 |
| 3:36829561:TACCT:T | donor_loss | 1.0000 |
| 3:36829562:A:AC | donor_gain | 1.0000 |
| 3:36829562:A:C | donor_loss | 1.0000 |
| 3:36829562:ACCTT:A | donor_gain | 1.0000 |
| 3:36829563:C:CC | donor_gain | 1.0000 |
| 3:36829563:C:G | donor_loss | 1.0000 |
| 3:36829563:CCTT:C | donor_gain | 1.0000 |
| 3:36829563:CCTTC:C | donor_gain | 1.0000 |
| 3:36829566:T:A | donor_gain | 1.0000 |
| 3:36829658:CTCCG:C | acceptor_gain | 1.0000 |
| 3:36829660:CCG:C | acceptor_gain | 1.0000 |
| 3:36829661:CG:C | acceptor_gain | 1.0000 |
| 3:36829661:CGC:C | acceptor_gain | 1.0000 |
| 3:36829662:GC:G | acceptor_loss | 1.0000 |
| 3:36829663:C:CA | acceptor_loss | 1.0000 |
| 3:36829663:C:CC | acceptor_gain | 1.0000 |
| 3:36829666:C:CT | acceptor_gain | 1.0000 |
| 3:36829667:A:T | acceptor_gain | 1.0000 |
| 3:36829673:C:CT | acceptor_gain | 1.0000 |
| 3:36829674:A:T | acceptor_gain | 1.0000 |
| 3:36830868:CTTA:C | donor_loss | 1.0000 |
| 3:36830870:TACCG:T | donor_loss | 1.0000 |
| 3:36830871:A:C | donor_loss | 1.0000 |
| 3:36830888:T:TA | donor_gain | 1.0000 |
| 3:36833915:CATAC:C | acceptor_gain | 1.0000 |
| 3:36833916:ATAC:A | acceptor_gain | 1.0000 |
| 3:36833917:TAC:T | acceptor_gain | 1.0000 |
AlphaMissense
19698 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:36851775:C:G | A1567P | 1.000 |
| 3:36842666:A:G | W1702R | 0.999 |
| 3:36842666:A:T | W1702R | 0.999 |
| 3:36846379:A:G | L1643P | 0.999 |
| 3:36846388:A:G | L1640P | 0.999 |
| 3:36847334:A:G | W1590R | 0.999 |
| 3:36847334:A:T | W1590R | 0.999 |
| 3:36851758:A:C | F1572L | 0.999 |
| 3:36851758:A:T | F1572L | 0.999 |
| 3:36851760:A:G | F1572L | 0.999 |
| 3:36851769:C:G | G1569R | 0.999 |
| 3:36851771:T:A | K1568I | 0.999 |
| 3:36855184:C:A | R1469M | 0.999 |
| 3:36855294:G:C | F1432L | 0.999 |
| 3:36855294:G:T | F1432L | 0.999 |
| 3:36855296:A:G | F1432L | 0.999 |
| 3:36855318:C:A | Q1424H | 0.999 |
| 3:36855318:C:G | Q1424H | 0.999 |
| 3:36855322:G:T | A1423D | 0.999 |
| 3:36855328:T:A | D1421V | 0.999 |
| 3:36855328:T:C | D1421G | 0.999 |
| 3:36855328:T:G | D1421A | 0.999 |
| 3:36855329:C:G | D1421H | 0.999 |
| 3:36855402:T:A | Q1396H | 0.999 |
| 3:36855402:T:G | Q1396H | 0.999 |
| 3:36855409:T:A | E1394V | 0.999 |
| 3:36855409:T:G | E1394A | 0.999 |
| 3:36855412:T:G | D1393A | 0.999 |
| 3:36846371:C:G | A1646P | 0.998 |
| 3:36851747:A:G | L1576P | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000004131 (3:36850443 C>A,G,T), RS1000046533 (3:36934409 C>G), RS1000097432 (3:36864590 G>A), RS1000128811 (3:36902930 C>T), RS1000184508 (3:36860575 G>A,C), RS1000201884 (3:36911474 A>C,T), RS1000217388 (3:36889628 T>C), RS1000220975 (3:36908936 T>A), RS1000225423 (3:36943677 G>A), RS1000230669 (3:36826726 T>A,C), RS1000254433 (3:36869760 T>C), RS1000260444 (3:36827041 G>A), RS1000315688 (3:36921957 C>G,T), RS1000316723 (3:36827221 G>C,T), RS1000340303 (3:36826990 A>G)
Disease associations
OMIM: gene MIM:619316 | disease phenotypes: MIM:209850
GenCC curated gene-disease
Mondo (2): autism (MONDO:0005260), autism spectrum disorder (MONDO:0005258)
Orphanet (1): NON RARE IN EUROPE: Autism (Orphanet:106)
HPO phenotypes
35 total (30 of 35 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000613 | Photophobia |
| HP:0000622 | Blurred vision |
| HP:0000713 | Agitation |
| HP:0000716 | Depression |
| HP:0000737 | Irritability |
| HP:0000739 | Anxiety |
| HP:0000741 | Apathy |
| HP:0000746 | Delusion |
| HP:0000975 | Hyperhidrosis |
| HP:0001289 | Confusion |
| HP:0001350 | Slurred speech |
| HP:0001945 | Fever |
| HP:0001959 | Polydipsia |
| HP:0002018 | Nausea |
| HP:0002167 | Abnormal speech pattern |
| HP:0002300 | Mutism |
| HP:0002315 | Headache |
| HP:0002519 | Hypnagogic hallucination |
| HP:0002591 | Polyphagia |
| HP:0004396 | Poor appetite |
| HP:0007057 | Poor hand-eye coordination |
| HP:0007200 | Episodic hypersomnia |
| HP:0008762 | Repetitive compulsive behavior |
| HP:0010534 | Transient global amnesia |
| HP:0012658 | Abnormal brain FDG positron emission tomography |
| HP:0025233 | Sleep paralysis |
| HP:0030221 | Sweet craving |
| HP:0031217 | Hot flashes |
| HP:0031249 | Parageusia |
| HP:0034004 | Parosmia |
GWAS associations
36 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001241_18 | Bipolar disorder | 9.000000e-06 |
| GCST001358_4 | Bipolar disorder | 1.000000e-12 |
| GCST001715_3 | Bipolar disorder with mood-incongruent psychosis | 1.000000e-07 |
| GCST002295_1 | Schizophrenia or bipolar disorder | 4.000000e-07 |
| GCST002295_7 | Schizophrenia or bipolar disorder | 1.000000e-10 |
| GCST002385_6 | Bipolar disorder | 2.000000e-08 |
| GCST002539_47 | Schizophrenia | 1.000000e-13 |
| GCST003158_2 | Subjective response to lithium treatment | 8.000000e-07 |
| GCST003724_2 | Bipolar disorder | 5.000000e-10 |
| GCST003962_2 | Bipolar disorder | 2.000000e-10 |
| GCST004139_17 | Bipolar disorder | 2.000000e-09 |
| GCST004521_90 | Autism spectrum disorder or schizophrenia | 1.000000e-11 |
| GCST004616_141 | Platelet distribution width | 2.000000e-10 |
| GCST004946_15 | Schizophrenia | 3.000000e-11 |
| GCST005094_2 | Iris color (L* coordinate) | 7.000000e-06 |
| GCST006575_3 | Takayasu arteritis | 5.000000e-06 |
| GCST006611_69 | HDL cholesterol | 3.000000e-12 |
| GCST006613_77 | Triglycerides | 5.000000e-08 |
| GCST006629_86 | Pulse pressure | 6.000000e-15 |
| GCST006803_105 | Schizophrenia | 9.000000e-11 |
| GCST007201_137 | Schizophrenia | 4.000000e-11 |
| GCST007201_278 | Schizophrenia | 2.000000e-12 |
| GCST007565_148 | Morning person | 1.000000e-13 |
| GCST007576_4 | Chronotype | 1.000000e-13 |
| GCST008103_178 | Bipolar disorder | 8.000000e-06 |
| GCST008103_2 | Bipolar disorder | 6.000000e-12 |
| GCST008115_1 | Bipolar I disorder | 4.000000e-14 |
| GCST009600_86 | Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) | 2.000000e-17 |
| GCST010241_346 | Apolipoprotein A1 levels | 4.000000e-08 |
| GCST010242_52 | HDL cholesterol levels | 3.000000e-09 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007984 | platelet component distribution width |
| EFO:0003949 | eye color |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0005763 | pulse pressure measurement |
| EFO:0008328 | chronotype measurement |
| EFO:0009963 | bipolar I disorder |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004327 | electrocardiography |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001321 | Autistic Disorder | F03.625.164.113.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
43 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 3 |
| epigallocatechin gallate | decreases expression, increases expression, affects cotreatment | 2 |
| Air Pollutants | increases abundance, decreases expression, affects cotreatment, affects expression, affects oxidation | 2 |
| Nickel | decreases expression, increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Tretinoin | increases expression | 2 |
| sotorasib | affects cotreatment, increases expression | 1 |
| alpha-pinene | affects cotreatment, affects expression, affects oxidation, increases abundance | 1 |
| bisphenol A | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| arsenite | decreases reaction, affects binding | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| methacrylaldehyde | increases abundance, affects cotreatment, affects expression, affects oxidation | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| incobotulinumtoxinA | increases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| trametinib | affects cotreatment, increases expression | 1 |
| NVP-BKM120 | affects cotreatment, increases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Acrolein | affects cotreatment, affects expression, affects oxidation, increases abundance | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1I8 | Abcam A-549 TRANK1 KO 1 | Cancer cell line | Male |
| CVCL_B2QS | Abcam A-549 TRANK1 KO 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00211796 | PHASE4 | COMPLETED | Divalproex Sodium ER in Adult Autism |
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT00409747 | PHASE4 | COMPLETED | Minocycline to Treat Childhood Regressive Autism |
| NCT00576732 | PHASE4 | COMPLETED | A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder |
| NCT00844753 | PHASE4 | COMPLETED | Atomoxetine, Placebo and Parent Management Training in Autism |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders |
| NCT01098383 | PHASE4 | UNKNOWN | Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders |
| NCT01333865 | PHASE4 | COMPLETED | A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders |
| NCT01337700 | PHASE4 | COMPLETED | Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism |
| NCT01695200 | PHASE4 | COMPLETED | Omega-3 Fatty Acids in Autism Spectrum Disorders |
| NCT02069977 | PHASE4 | UNKNOWN | Study to Evaluate the Efficacy and Safety of Aripiprazole |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02199925 | PHASE4 | UNKNOWN | An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| NCT02255565 | PHASE4 | COMPLETED | Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study |
| NCT02940574 | PHASE4 | COMPLETED | Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders |
| NCT03333629 | PHASE4 | COMPLETED | Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes |
| NCT03337646 | PHASE4 | COMPLETED | Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism |
| NCT03538431 | PHASE4 | COMPLETED | Improving Driving in Young People With Autism Spectrum Disorders |
| NCT03757585 | PHASE4 | COMPLETED | Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) |
| NCT04903353 | PHASE4 | COMPLETED | Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole |
| NCT05063656 | PHASE4 | COMPLETED | Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin |
| NCT05146245 | PHASE4 | UNKNOWN | Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT |
| NCT05916339 | PHASE4 | RECRUITING | AWARE: Management of ADHD in Autism Spectrum Disorder |
| NCT05954052 | PHASE4 | TERMINATED | A Study of Glutathione in Children With Autism Spectrum Disorder |
| NCT06853665 | PHASE4 | RECRUITING | The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine |
| NCT07054697 | PHASE4 | COMPLETED | Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder |
| NCT07161804 | PHASE4 | COMPLETED | Pilot RCT Using Homeopathic Medicines in ASD |
| NCT07439042 | PHASE4 | NOT_YET_RECRUITING | Buspirone for Anxiety in Autistic Youth |
| NCT00036231 | PHASE3 | TERMINATED | Synthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction |
| NCT00036244 | PHASE3 | COMPLETED | Synthetic Human Secretin in Children With Autism |
| NCT00065884 | PHASE3 | UNKNOWN | Valproate Response in Aggressive Autistic Adolescents |
| NCT00065962 | PHASE3 | COMPLETED | Secretin for the Treatment of Autism |
| NCT00252603 | PHASE3 | COMPLETED | Galantamine Versus Placebo in Childhood Autism |
| NCT00346736 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00352248 | PHASE3 | COMPLETED | Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder |
| NCT00352352 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00355329 | PHASE3 | COMPLETED | Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation |
| NCT00498173 | PHASE3 | COMPLETED | Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism |
| NCT00541346 | PHASE3 | COMPLETED | A Pilot Study of Daytrana TM in Children With Autism Co-Morbid for Attention Deficit Hyperactivity Disorder (ADHD) Symptoms |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Kleine-Levin syndrome, Takayasu arteritis