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Atlas / Gene / TLN2

TLN2

gene
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Also known as KIAA0320ILWEQ

Summary

TLN2 (talin 2, HGNC:15447) is a protein-coding gene on chromosome 15q22.2, encoding Talin-2 (Q9Y4G6). As a major component of focal adhesion plaques that links integrin to the actin cytoskeleton, may play an important role in cell adhesion.

This gene encodes a protein related to talin 1, a cytoskeletal protein that plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. This protein has a different pattern of expression compared to talin 1 but, like talin 1, is thought to associate with unique transmembrane receptors to form novel linkages between extracellular matrices and the actin cytoskeleton.

Source: NCBI Gene 83660 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): camptodactyly of fingers (Limited, GenCC) — +1 more curated relationship
  • GWAS associations: 28
  • Clinical variants (ClinVar): 476 total
  • MANE Select transcript: NM_015059

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:15447
Approved symbolTLN2
Nametalin 2
Location15q22.2
Locus typegene with protein product
StatusApproved
AliasesKIAA0320, ILWEQ
Ensembl geneENSG00000171914
Ensembl biotypeprotein_coding
OMIM607349
Entrez83660

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 11 protein_coding, 4 retained_intron, 3 protein_coding_CDS_not_defined

ENST00000467297, ENST00000472902, ENST00000474847, ENST00000489129, ENST00000494733, ENST00000559174, ENST00000559908, ENST00000561197, ENST00000561311, ENST00000561322, ENST00000636159, ENST00000895916, ENST00000895917, ENST00000933899, ENST00000964496, ENST00000964497, ENST00000964498, ENST00000964499

RefSeq mRNA: 2 — MANE Select: NM_015059 NM_001394547, NM_015059

CCDS: CCDS32261

Canonical transcript exons

ENST00000636159 — 59 exons

ExonStartEnd
ENSE000010999836274063062740769
ENSE000011241246275553262755693
ENSE000011241306275377362753916
ENSE000011241726272708762727189
ENSE000011241776271976762719880
ENSE000011241846271757662717689
ENSE000011241906271633162716459
ENSE000011241946271191162712077
ENSE000011244536270850262708796
ENSE000011244616270708662707253
ENSE000011244756270276662702864
ENSE000011244836270199262702200
ENSE000011244896270110662701214
ENSE000011244986269875462698867
ENSE000011245046269768862697868
ENSE000011245216267521762675321
ENSE000011245246267382762673890
ENSE000011245296265777162657898
ENSE000011245556265008462650181
ENSE000011412276272497662725104
ENSE000011412406269431662694392
ENSE000011412516269284062692941
ENSE000011412586264727562647446
ENSE000012521006284048262844631
ENSE000015059456272235362722487
ENSE000017906856268664162686796
ENSE000025465266258968762589762
ENSE000034628936280560062805785
ENSE000034873446273821462738333
ENSE000034914406283350462833629
ENSE000034928796283885662838981
ENSE000035225906265594462656086
ENSE000035257046265200562652134
ENSE000035329936282048662820610
ENSE000035372936275230562752427
ENSE000035388866265316262653314
ENSE000035419976276227262762453
ENSE000035575966277676462776910
ENSE000035649276283573762835799
ENSE000035704576278114062781241
ENSE000035776876274835162748444
ENSE000035802036276356362763695
ENSE000035842216283589162836073
ENSE000036052606278377162783890
ENSE000036065596277096462771134
ENSE000036088526280065362800769
ENSE000036093256273934862739545
ENSE000036138036273687862737086
ENSE000036151646280992562810032
ENSE000036181526280036862800493
ENSE000036203896276632162766422
ENSE000036275546279721962797402
ENSE000036282336276168162761821
ENSE000036525936275040262750491
ENSE000036575886279612762796293
ENSE000036704866279264162792787
ENSE000036889786281951662819621
ENSE000039234036239055062390685
ENSE000039272926261835162618475

Expression profiles

Bgee: expression breadth ubiquitous, 257 present calls, max score 96.46.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.9163 / max 373.1940, expressed in 1585 samples.

FANTOM5 promoters (14 alternative TSS)

Promoter IDTPM avgSamples expressed
14703912.79461463
1470381.4408666
1470370.7261351
1470400.5932166
1470360.3717167
1470560.3669197
1470440.3418128
1470490.285984
1470460.2742109
1470510.209874

Top tissues by expression

286 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
sural nerveUBERON:001548896.46gold quality
middle temporal gyrusUBERON:000277194.17gold quality
frontal poleUBERON:000279593.84gold quality
Brodmann (1909) area 46UBERON:000648393.78gold quality
orbitofrontal cortexUBERON:000416793.28gold quality
Brodmann (1909) area 10UBERON:001354193.19gold quality
prefrontal cortexUBERON:000045192.53gold quality
calcaneal tendonUBERON:000370192.41gold quality
ventricular zoneUBERON:000305392.34gold quality
Brodmann (1909) area 23UBERON:001355491.63gold quality
CA1 field of hippocampusUBERON:000388191.15gold quality
superior frontal gyrusUBERON:000266190.97gold quality
frontal cortexUBERON:000187090.79gold quality
entorhinal cortexUBERON:000272890.31gold quality
postcentral gyrusUBERON:000258189.69gold quality
neocortexUBERON:000195089.68gold quality
colonic epitheliumUBERON:000039789.55gold quality
adult mammalian kidneyUBERON:000008289.08gold quality
parietal lobeUBERON:000187289.05gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047388.95gold quality
subcutaneous adipose tissueUBERON:000219088.84gold quality
nephron tubuleUBERON:000123188.76gold quality
corpus callosumUBERON:000233688.75gold quality
descending thoracic aortaUBERON:000234588.62gold quality
metanephros cortexUBERON:001053388.58gold quality
middle frontal gyrusUBERON:000270288.53gold quality
adipose tissueUBERON:000101388.52gold quality
hindlimb stylopod muscleUBERON:000425288.49gold quality
dorsolateral prefrontal cortexUBERON:000983488.42gold quality
cerebral cortexUBERON:000095688.34gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-ANND-2yes2380.39
E-ANND-3yes15.48

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): YY1

Literature-anchored findings (GeneRIF, showing 20)

  • we show that the predominant brain splice variant of PtdInsPKI gamma (PtdInsPKI gamma-90) binds, by means of a short carboxy-terminal peptide, to the FERM domain of talin, and is strongly activated by this interaction (PMID:12422219)
  • The F-actin binding capacity of Talin 2 is regulated by intrasteric occlusion of primary actin-binding determinants within the talin I/LWEQ module. (PMID:15581353)
  • Talin2 may serve as the link between integrins and the sarcomeric cytoskeletonin stable adhesion complexes in mature striated muscle. (PMID:17183545)
  • Data show that TLN2n presents only in the CSF of temporal lobe epilepsy patients. (PMID:19109932)
  • This review discusses the general function of talin 1 and talin 2, as well as vinculin/metavinulin, with emphasis on what is understood about their role in the cardiac myocyte and in whole heart. (PMID:19952892)
  • the differential concentration of CSF and serum-talin 2 in the drug-refractory postencephalitic epilepsy group is an intractability-related phenomenon that might be involved in the development of RPEE (PMID:20620133)
  • Structural diversity in integrin/talin interactions. (PMID:21134644)
  • Data show that SCGB3A1 was down-regulated in invasive compared with DCIS, whereas talin 2 (TLN2) and PTGS1 were up-regulated in invasive compared with DCIS. (PMID:21812955)
  • Talin1 has unique expression versus talin 2 in the heart and modifies the hypertrophic response to pressure overload. (PMID:23266827)
  • Data indicate the role of vinculin in inducing the talin mediated integrin activation. (PMID:24446374)
  • Both TLN-1 and TLN-2 levels correlate with tumorigenicity in human HCC, indicating that these molecules constitute important molecular targets for the diagnosis and/or treatment of hepatocellular carcinoma . (PMID:26822056)
  • data suggest a potential molecular link between TLN2 and camptodactyly pathogenesis. (PMID:27223613)
  • These results suggest that a strong interaction of talin2 with integrins is required to generate traction, which in turn drives invadopodium-mediated matrix degradation, which is key to cancer cell invasion. (PMID:27694340)
  • The central role of talin and vinculin in cell adhesions suggests that the disintegration of the tissue in atherosclerosis could be partially driven by downregulation of these genes, leading to loosening of cell-ECM interactions and remodeling of the tissue. (PMID:27816808)
  • Epistasis between variants of WWC1 and TLN2 in association to Alzheimer’s. (PMID:30201328)
  • Talin2 mediates secretion and trafficking of matrix metallopeptidase 9 during invadopodium formation. (PMID:32198023)
  • A distinct talin2 structure directs isoform specificity in cell adhesion. (PMID:32605925)
  • Phosphoinositides regulate force-independent interactions between talin, vinculin, and actin. (PMID:32657269)
  • [Expression of miR-4324 and its targeted gene Talin2 in breast cancer]. (PMID:36329586)
  • Talin2 and KANK2 functionally interact to regulate microtubule dynamics, paclitaxel sensitivity and cell migration in the MDA-MB-435S melanoma cell line. (PMID:37460977)

Cross-species orthologs

7 orthologs

OrganismSymbolGene ID
danio_reriotln2aENSDARG00000017901
danio_reriotln2bENSDARG00000110973
danio_rerioENSDARG00000112342
mus_musculusTln2ENSMUSG00000052698
rattus_norvegicusTln2ENSRNOG00000018373
drosophila_melanogasterrheaFBGN0260442
caenorhabditis_eleganstln-1WBGENE00006771

Paralogs (2): TLN1 (ENSG00000137076), TLNRD1 (ENSG00000140406)

Protein

Protein identifiers

Talin-2 — Q9Y4G6 (reviewed: Q9Y4G6)

All UniProt accessions (4): Q9Y4G6, A0A1B0GVU7, H0YMT1, H0YN01

UniProt curated annotations — full annotation on UniProt →

Function. As a major component of focal adhesion plaques that links integrin to the actin cytoskeleton, may play an important role in cell adhesion. Recruits PIP5K1C to focal adhesion plaques and strongly activates its kinase activity.

Subunit / interactions. Interacts directly with PIP5K1C.

Subcellular location. Cytoplasm. Cell junction. Focal adhesion. Synapse. Cell membrane. Cytoskeleton.

RefSeq proteins (2): NP_001381476, NP_055874* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000299FERM_domainDomain
IPR002404IRS_PTBDomain
IPR002558ILWEQ_domDomain
IPR011993PH-like_dom_sfHomologous_superfamily
IPR014352FERM/acyl-CoA-bd_prot_sfHomologous_superfamily
IPR015009Vinculin-bd_domDomain
IPR015224Talin_centDomain
IPR018979FERM_NDomain
IPR019747FERM_CSConserved_site
IPR019748FERM_centralDomain
IPR019749Band_41_domainDomain
IPR029071Ubiquitin-like_domsfHomologous_superfamily
IPR032425FERM_f0Domain
IPR035963FERM_2Homologous_superfamily
IPR035964I/LWEQ_dom_sfHomologous_superfamily
IPR036476Talin_cent_sfHomologous_superfamily
IPR036723Alpha-catenin/vinculin-like_sfHomologous_superfamily
IPR037438Talin1/2-RSDomain
IPR049108Talin_R4Domain
IPR054060TLN1-like_RSDomain
IPR054082Talin_IBS2BDomain
IPR057346Talin1/2_VBS2Domain

Pfam: PF01608, PF02174, PF08913, PF09141, PF09379, PF16511, PF21692, PF21865, PF21896, PF25177

UniProt features (58 total): strand 16, helix 16, sequence variant 7, turn 7, modified residue 6, domain 2, sequence conflict 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

1 structures.

PDBMethodResolution (Å)
6U4KX-RAY DIFFRACTION2.56

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9Y4G6-F175.850.03

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 (6): 428, 449, 623, 1023, 1665, 1843

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 159 (showing top): MORF_RAGE, YAGI_AML_WITH_INV_16_TRANSLOCATION, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, MORF_ATRX, GOCC_RUFFLE, GCM_PRKCG, GOBP_CELL_CELL_ADHESION, GOBP_CELL_JUNCTION_ORGANIZATION, BACOLOD_RESISTANCE_TO_ALKYLATING_AGENTS_DN, TGANTCA_AP1_C, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, GOMF_ACTIN_BINDING, GOBP_CELL_JUNCTION_ASSEMBLY, KIM_WT1_TARGETS_12HR_UP, GOBP_CELL_CELL_JUNCTION_ASSEMBLY

GO Biological Process (5): cell-cell junction assembly (GO:0007043), cell adhesion (GO:0007155), actin cytoskeleton organization (GO:0030036), cell-cell adhesion (GO:0098609), presynaptic actin cytoskeleton organization (GO:0099140)

GO Molecular Function (6): actin binding (GO:0003779), integrin binding (GO:0005178), structural molecule activity (GO:0005198), structural constituent of cytoskeleton (GO:0005200), actin filament binding (GO:0051015), protein binding (GO:0005515)

GO Cellular Component (10): ruffle (GO:0001726), cytoplasm (GO:0005737), plasma membrane (GO:0005886), focal adhesion (GO:0005925), actin cytoskeleton (GO:0015629), synapse (GO:0045202), presynapse (GO:0098793), cytoskeleton (GO:0005856), membrane (GO:0016020), anchoring junction (GO:0070161)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure3
cytoskeleton organization2
protein-containing complex binding2
cytoskeleton2
cell junction2
cell junction assembly1
cell-cell junction organization1
cellular process1
actin filament-based process1
cell adhesion1
actin cytoskeleton organization1
presynaptic cytoskeleton organization1
cytoskeletal protein binding1
signaling receptor binding1
cell adhesion molecule binding1
molecular_function1
structural molecule activity1
actin binding1
binding1
cell leading edge1
plasma membrane bounded cell projection1
intracellular anatomical structure1
membrane1
cell periphery1
cell-substrate junction1
synapse1
intracellular membraneless organelle1

Protein interactions and networks

STRING

2096 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
TLN2VCLP18206999
TLN2PXNP49023999
TLN2ZYXQ15942999
TLN2PTK2Q05397997
TLN2FLNAP21333997
TLN2FLNCQ14315996
TLN2ILKP57043996
TLN2BCAR1P56945996
TLN2FLNBO75369996
TLN2APBB1IPQ7Z5R6995
TLN2SRCP12931994
TLN2FN1P02751984
TLN2ITGB1P05556979
TLN2KANK1Q14678977
TLN2ITGB2P05107971

IntAct

41 interactions, top by confidence:

ABTypeScore
SKP1TTC9Cpsi-mi:“MI:0914”(association)0.870
KANK4TRAPPC3psi-mi:“MI:0914”(association)0.640
TLN2ITGB2psi-mi:“MI:0915”(physical association)0.600
ABL1TLN2psi-mi:“MI:0915”(physical association)0.600
ITGB2TLN2psi-mi:“MI:0915”(physical association)0.600
TLN2ABL1psi-mi:“MI:0407”(direct interaction)0.600
TLN2ABL1psi-mi:“MI:0915”(physical association)0.600
TLN2ITGB2psi-mi:“MI:0407”(direct interaction)0.600
MAPTKIF2Apsi-mi:“MI:0914”(association)0.530
Cep350CCDC85Cpsi-mi:“MI:0915”(physical association)0.400
TLN2ITGB5psi-mi:“MI:0915”(physical association)0.400
DGCR8HNRNPUL1psi-mi:“MI:0914”(association)0.350
Tmed10TARS3psi-mi:“MI:0914”(association)0.350
L3mbtl2E2F6psi-mi:“MI:0914”(association)0.350
CHMP4Bpsi-mi:“MI:0914”(association)0.350
SGTBARHGAP32psi-mi:“MI:0914”(association)0.350
HNRNPDARHGAP32psi-mi:“MI:0914”(association)0.350
SYNCRIPARHGAP32psi-mi:“MI:0914”(association)0.350
ALBCDC45psi-mi:“MI:0914”(association)0.350
ALBCNOT1psi-mi:“MI:0914”(association)0.350
ALBSH3BP5psi-mi:“MI:0914”(association)0.350
HIF1ANCNOT1psi-mi:“MI:0914”(association)0.350
MAPTC11orf98psi-mi:“MI:0914”(association)0.350
PRNPWDR91psi-mi:“MI:0914”(association)0.350
KANK4psi-mi:“MI:0914”(association)0.350
RGCCTRAF7psi-mi:“MI:0914”(association)0.350
RIN3psi-mi:“MI:0914”(association)0.350

BioGRID (67): TLN2 (Affinity Capture-MS), TLN2 (Co-fractionation), TLN2 (Co-fractionation), TLN2 (Co-fractionation), TLN2 (Co-fractionation), TLN2 (Co-fractionation), TLN2 (Co-fractionation), TLN2 (Co-fractionation), TLN2 (Co-fractionation), TLN2 (Co-fractionation), TLN2 (Biochemical Activity), TLN2 (Affinity Capture-MS), TLN2 (Affinity Capture-MS), TLN2 (Affinity Capture-MS), TLN2 (Affinity Capture-MS)

ESM2 similar proteins: A0A3B6UES5, A0A3G2LGI8, D3ZHV2, G8JYB2, O46037, O60437, P0CE94, P0CE95, P11533, P12003, P18206, P19826, P26039, P26231, P26234, P30427, P33338, P35220, P35221, P54939, P85972, P90947, Q02328, Q03001, Q04615, Q15149, Q17162, Q3MHM6, Q54K81, Q54MH2, Q59I72, Q64727, Q6ZWR6, Q71LX4, Q8MSU4, Q91ZU6, Q95XZ0, Q9ERE8, Q9H1K6, Q9MBF8

Diamond homologs: A0A3G2LGI8, F1REV3, P0CE94, P26039, P54939, P59113, Q18685, Q54EW0, Q5R8M5, Q71LX4, Q9BQL6, Q9P6L5, Q9Y490, Q9Y4G6, Q9WU22, F1Q8X5, P0CE95, Q32LP0, Q86UX7, Q8CIB5, Q8K1B8, Q96AC1, Q9VZI3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

476 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance379
Likely benign31
Benign16

Top pathogenic / likely-pathogenic (0)

SpliceAI

9739 predictions. Top by Δscore:

VariantEffectΔscore
15:62618336:A:AGacceptor_gain1.0000
15:62618476:G:GGdonor_gain1.0000
15:62630436:T:Aacceptor_gain1.0000
15:62647270:TCCAG:Tacceptor_loss1.0000
15:62647271:CCA:Cacceptor_loss1.0000
15:62647273:A:AGacceptor_gain1.0000
15:62647274:G:GGacceptor_gain1.0000
15:62647274:GAC:Gacceptor_gain1.0000
15:62647274:GACA:Gacceptor_gain1.0000
15:62647442:GCAAG:Gdonor_gain1.0000
15:62647444:AAGG:Adonor_loss1.0000
15:62647445:AGG:Adonor_loss1.0000
15:62647447:G:GGdonor_gain1.0000
15:62647447:GTAG:Gdonor_loss1.0000
15:62652003:A:AGacceptor_gain1.0000
15:62652004:G:GGacceptor_gain1.0000
15:62652131:ATAGG:Adonor_loss1.0000
15:62652132:TAGGT:Tdonor_loss1.0000
15:62652134:GGTG:Gdonor_loss1.0000
15:62652135:G:Cdonor_loss1.0000
15:62652135:G:GGdonor_gain1.0000
15:62652136:T:Gdonor_loss1.0000
15:62653156:GTTTA:Gacceptor_loss1.0000
15:62653157:TTTAG:Tacceptor_loss1.0000
15:62653158:TTA:Tacceptor_loss1.0000
15:62653159:TA:Tacceptor_loss1.0000
15:62653310:TGACC:Tdonor_gain1.0000
15:62653311:GACC:Gdonor_gain1.0000
15:62653311:GACCG:Gdonor_gain1.0000
15:62653312:ACC:Adonor_gain1.0000

AlphaMissense

10184 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
15:62722447:T:CL1029P1.000
15:62722468:T:CL1036P1.000
15:62739412:T:CL1251P1.000
15:62740664:T:CL1307P1.000
15:62755545:C:AA1497D1.000
15:62755554:T:AV1500D1.000
15:62755557:C:AA1501D1.000
15:62755647:C:AA1531D1.000
15:62755659:C:AA1535D1.000
15:62755677:T:CL1541P1.000
15:62796238:T:CF1999L1.000
15:62796240:T:AF1999L1.000
15:62796240:T:GF1999L1.000
15:62797239:C:AA2024D1.000
15:62797344:T:CL2059P1.000
15:62800417:T:CL2095P1.000
15:62800678:T:CL2129P1.000
15:62800681:T:CL2130P1.000
15:62805747:A:CS2209R1.000
15:62805749:C:AS2209R1.000
15:62805749:C:GS2209R1.000
15:62820537:T:CL2310S1.000
15:62820558:T:AI2317N1.000
15:62820569:G:CA2321P1.000
15:62820579:T:CL2324S1.000
15:62833546:G:CA2349P1.000
15:62833562:C:AA2354D1.000
15:62833580:T:AL2360Q1.000
15:62833580:T:CL2360P1.000
15:62833583:T:AV2361D1.000

dbSNP variants (sampled 300 via entrez): RS1000000141 (15:62625397 A>AT), RS1000001929 (15:62495768 C>T), RS1000004833 (15:62664710 T>C), RS1000005509 (15:62802441 T>C), RS1000010437 (15:62590169 T>G), RS1000019893 (15:62479632 T>G), RS1000020607 (15:62701423 C>T), RS1000021201 (15:62445496 A>G), RS1000025184 (15:62773772 A>G), RS1000038217 (15:62515877 T>A), RS1000043865 (15:62436228 C>T), RS1000044195 (15:62409147 G>A), RS1000046167 (15:62658574 C>T), RS1000049946 (15:62521260 G>A,C), RS1000064754 (15:62546638 T>C)

Disease associations

OMIM: gene MIM:607349 | disease phenotypes:

GenCC curated gene-disease

DiseaseClassificationInheritance
camptodactyly of fingersLimitedAutosomal dominant
Tourette syndromeLimitedUnknown

Mondo (3): myoepithelial tumor (MONDO:0002380), camptodactyly of fingers (MONDO:0007250), Tourette syndrome (MONDO:0007661)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

28 associations (top):

StudyTraitp-value
GCST004611_202High light scatter reticulocyte count2.000000e-21
GCST004611_203High light scatter reticulocyte count4.000000e-15
GCST004612_136High light scatter reticulocyte percentage of red cells2.000000e-22
GCST004612_137High light scatter reticulocyte percentage of red cells4.000000e-15
GCST004619_39Reticulocyte fraction of red cells1.000000e-15
GCST004622_131Reticulocyte count6.000000e-14
GCST004628_10Immature fraction of reticulocytes1.000000e-25
GCST004628_11Immature fraction of reticulocytes3.000000e-10
GCST004628_12Immature fraction of reticulocytes8.000000e-20
GCST010726_61Periventricular white matter hyperintensities9.000000e-06
GCST012231_117A body shape index3.000000e-08
GCST90000025_217Appendicular lean mass4.000000e-11
GCST90002385_45High light scatter reticulocyte count7.000000e-19
GCST90002385_46High light scatter reticulocyte count3.000000e-09
GCST90002385_47High light scatter reticulocyte count6.000000e-17
GCST90002385_48High light scatter reticulocyte count5.000000e-10
GCST90002386_593High light scatter reticulocyte percentage of red cells1.000000e-19
GCST90002386_594High light scatter reticulocyte percentage of red cells1.000000e-09
GCST90002386_595High light scatter reticulocyte percentage of red cells6.000000e-17
GCST90002386_596High light scatter reticulocyte percentage of red cells1.000000e-09
GCST90002387_5Immature fraction of reticulocytes2.000000e-48
GCST90002387_6Immature fraction of reticulocytes2.000000e-25
GCST90002387_7Immature fraction of reticulocytes3.000000e-11
GCST90002396_635Mean reticulocyte volume3.000000e-09
GCST90002405_335Reticulocyte count7.000000e-30
GCST90002405_336Reticulocyte count3.000000e-10
GCST90002406_385Reticulocyte fraction of red cells1.000000e-35
GCST90002407_591White blood cell count1.000000e-10

EFO canonical traits (5, from GWAS)

EFO IDTrait name
EFO:0007986reticulocyte count
EFO:0005665white matter hyperintensity measurement
EFO:0007789BMI-adjusted waist circumference
EFO:0004980appendicular lean mass
EFO:0010701mean reticulocyte volume

MeSH disease descriptors (4)

DescriptorNameTree numbers
D009208MyoepitheliomaC04.557.435.585
D005879Tourette SyndromeC10.228.140.079.898; C10.228.662.825.800; C10.574.500.850; C16.320.400.820; F03.625.992.850
C567780Camptodactyly 1 (supp.)
C536852Familial streblodactyly (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

64 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneaffects methylation, decreases expression7
Valproic Acidaffects cotreatment, increases expression, increases methylation4
bisphenol Adecreases expression, increases expression, affects methylation, affects cotreatment, decreases methylation3
Aflatoxin B1decreases expression, increases methylation3
sodium arseniteincreases expression2
methacrylaldehydeaffects cotreatment, decreases expression, increases oxidation, increases abundance2
Acetaminophendecreases expression, increases expression2
Acroleindecreases expression, increases oxidation, increases abundance, affects cotreatment2
Ozoneaffects cotreatment, decreases expression, increases oxidation, increases abundance2
Tobacco Smoke Pollutiondecreases expression, increases methylation2
FR900359affects phosphorylation1
dicrotophosincreases expression1
methyleugenoldecreases expression1
alpha-pineneincreases abundance, affects cotreatment, decreases expression, increases oxidation1
decabromobiphenyl etherdecreases expression1
mono-(2-ethylhexyl)phthalateincreases expression1
tetrabromobisphenol Aincreases expression1
benzo(k)fluoranthenedecreases expression1
benzo(e)pyreneincreases methylation1
nickel sulfatedecreases expression, increases expression1
benz(a)anthracenedecreases expression1
indeno(1,2,3-cd)pyrenedecreases expression1
arsenic trichlorideincreases expression1
perfluorooctane sulfonic acidincreases expression1
CGP 52608affects binding, increases reaction1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideincreases expression, affects cotreatment1
bisphenol Bincreases expression1
abrinedecreases expression1
dorsomorphinaffects cotreatment, increases expression1
pentabrominated diphenyl ether 100increases expression1

Clinical trials (associated diseases)

188 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT00152750PHASE4UNKNOWNStudy of Clonidine on Sleep Architecture in Children With Tourette’s Syndrome (TS) and Comorbid ADHD
NCT00226824PHASE4TERMINATEDSafety Study of Galantamine in Tic Disorders
NCT00241176PHASE4COMPLETEDOpen Label Trial of Aripiprazole in Children and Adolescents With Tourette’s Disorder
NCT00370838PHASE4COMPLETEDComparison of Keppra and Clonidine in the Treatment of Tics
NCT01018056PHASE4COMPLETEDDeveloping New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission
NCT01547000PHASE4COMPLETEDGuanfacine in Children With Tic Disorders
NCT03239210PHASE4COMPLETEDEffects of Ondansetron in Obsessive-compulsive and Tic Disorders
NCT00004376PHASE3COMPLETEDPhase III Randomized, Double-Blind, Placebo-Controlled Study of Guanfacine for Tourette Syndrome and Attention Deficit Hyperactivity Disorder
NCT00206323PHASE3COMPLETEDA Randomized, Placebo-controlled, Tourette Syndrome Study.
NCT00206336PHASE3COMPLETEDAn Open-label Study to Determine the Efficacy and Safety of Topiramate in the Treatment of Tourette Syndrome.
NCT00478842PHASE3COMPLETEDPallidal Stimulation and Gilles de la Tourette Syndrome
NCT00681863PHASE3TERMINATEDOpen-label Extension Study of Pramipexole in the Treatment of Children and Adolescents With Tourette Syndrome
NCT01501695PHASE3COMPLETEDPhase III Study of 5LGr to Treat Tic Disorder
NCT03087201PHASE3COMPLETEDCANNAbinoids in the Treatment of TICS (CANNA-TICS)
NCT03487783PHASE3COMPLETEDAripiprazole Oral Solution in the Treatment of Children and Adolescents With Tourette’s Syndrome
NCT03567291PHASE3TERMINATEDEvaluation of Safety and Tolerability of Long-term TEV-50717 (Deutetrabenazine) for Treatment of Tourette Syndrome in Children and Adolescents
NCT03571256PHASE3COMPLETEDA Study to Test if TEV-50717 is Effective in Relieving Tics Associated With Tourette Syndrome (TS)
NCT06021522PHASE3ACTIVE_NOT_RECRUITINGA Study to Evaluate Long-term Safety of Ecopipam Tablets in Children, Adolescents and Adults With Tourette’s Disorder
NCT00004393PHASE2COMPLETEDPhase II Double Blind Placebo Controlled Trial of Risperidone in Tourette Syndrome
NCT00004652PHASE2COMPLETEDPhase II Pilot Controlled Study of Short Vs Longer Term Pimozide (Orap) Therapy in Tourette Syndrome
NCT00231985PHASE2COMPLETEDEffectiveness of Behavior Therapy and Psychosocial Therapy for the Treatment of Tourette Syndrome and Chronic Tic Disorder
NCT00311909PHASE2COMPLETEDThalamic Deep Brain Stimulation for Tourette Syndrome
NCT00529308PHASE2COMPLETEDTranscranial Magnetic Stimulation (TMS) for Individuals With Tourette’s Syndrome
NCT00558467PHASE2COMPLETEDPramipexole Pilot Phase II Study in Children and Adolescents With Tourette Disorder According to DSM-IV Criteria
NCT01043549PHASE2TERMINATEDRepetitive Transcranial Magnetic Stimulation of the Posterior Parietal Cortex in Patients Suffering From Gilles de la Tourette Syndrome
NCT01133353PHASE2WITHDRAWNA Study of the Effectiveness and Safety of Tetrabenazine MR in Pediatric Subjects With Tourette’s Syndrome
NCT01475383PHASE2WITHDRAWNStudy Evaluating The Safety And Efficacy Of PF-03654746 In Adult Subjects With Tourette’s Syndrome
NCT01647269PHASE2COMPLETEDA Trial of Bilateral Deep Brain Stimulation to the Globus Pallidus Internum in Tourette Syndrome
NCT01904773PHASE2COMPLETEDSafety, Tolerability, Pharmacokinetic, and Efficacy Study of AZD5213 in Adolescents With Tourette’s Disorder
NCT02102698PHASE2COMPLETEDEcopipam Treatment of Tourette’s Syndrome in Subjects 7-17 Years
NCT02217007PHASE2WITHDRAWNA Trial Evaluating the Efficacy, Safety, and Pharmacokinetics of SNC-102 in Subjects With Tourette Syndrome
NCT02247206PHASE2COMPLETEDVoIP Delivered Behavior Therapy for Tourette Syndrome
NCT02581865PHASE2COMPLETEDSafety and Efficacy Study of NBI-98854 in Adults With Tourette Syndrome
NCT02619084PHASE2COMPLETEDSubthalamic Stimulation in Tourette’s Syndrome
NCT02679079PHASE2COMPLETEDSafety and Efficacy Study of NBI-98854 in Children and Adolescents With Tourette Syndrome
NCT02879578PHASE2COMPLETEDSafety and Tolerability Study of NBI-98854 for the Treatment of Subjects With Tourette Syndrome
NCT03066193PHASE2COMPLETEDEfficacy of a Therapeutic Combination of Dronabinol and PEA for Tourette Syndrome
NCT03247244PHASE2TERMINATEDSafety and Efficacy of Cannabis in Tourette Syndrome
NCT03325010PHASE2COMPLETEDSafety, Tolerability, and Efficacy of NBI-98854 for the Treatment of Pediatric Subjects With Tourette Syndrome
NCT03444038PHASE2COMPLETEDOpen-Label Safety and Tolerability Study of NBI-98854 for the Treatment of Pediatric Subjects With Tourette Syndrome

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 74

This page pulls from 74 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot