◎ Sugi Atlas

Atlas / Gene / TEKT3

TEKT3

gene
On this page

Also known as FLJ32828

Summary

TEKT3 (tektin 3, HGNC:14293) is a protein-coding gene on chromosome 17p12, encoding Tektin-3 (Q9BXF9). Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia and flagellar axoneme.

This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. The exact function of this gene is not known.

Source: NCBI Gene 64518 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): spermatogenic failure 81 (Limited, GenCC)
  • GWAS associations: 2
  • Clinical variants (ClinVar): 116 total — 4 pathogenic, 1 likely-pathogenic
  • Phenotypes (HPO): 6
  • MANE Select transcript: NM_031898

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:14293
Approved symbolTEKT3
Nametektin 3
Location17p12
Locus typegene with protein product
StatusApproved
AliasesFLJ32828
Ensembl geneENSG00000125409
Ensembl biotypeprotein_coding
OMIM612683
Entrez64518

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 6 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000338696, ENST00000395930, ENST00000395931, ENST00000462175, ENST00000470325, ENST00000536146, ENST00000539245, ENST00000539316, ENST00000543896, ENST00000578011

RefSeq mRNA: 1 — MANE Select: NM_031898 NM_031898

CCDS: CCDS11169

Canonical transcript exons

ENST00000395930 — 9 exons

ExonStartEnd
ENSE000009077571531408715314230
ENSE000009077581531907715319147
ENSE000009077591532799215328075
ENSE000015232831534002815340061
ENSE000022388941534151815341597
ENSE000034939611531225915312481
ENSE000036461591533100715331614
ENSE000036558681530381215304152
ENSE000036836641530866415308818

Expression profiles

Bgee: expression breadth ubiquitous, 164 present calls, max score 92.92.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0916 / max 47.8150, expressed in 23 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
1646860.085623
1646870.00602

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
left testisUBERON:000453392.92gold quality
right testisUBERON:000453492.43gold quality
testisUBERON:000047390.52gold quality
right uterine tubeUBERON:000130290.04gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047389.83gold quality
bronchial epithelial cellCL:000232887.04gold quality
bronchusUBERON:000218584.96gold quality
spermCL:000001979.25gold quality
olfactory segment of nasal mucosaUBERON:000538673.11gold quality
adult organismUBERON:000702372.97gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099171.15gold quality
endocervixUBERON:000045870.16gold quality
left ovaryUBERON:000211969.48gold quality
fallopian tubeUBERON:000388968.54gold quality
right ovaryUBERON:000211868.21gold quality
left uterine tubeUBERON:000130368.08gold quality
right coronary arteryUBERON:000162567.73gold quality
ventricular zoneUBERON:000305367.18gold quality
tibial nerveUBERON:000132367.04gold quality
cerebellar hemisphereUBERON:000224566.94gold quality
cerebellar cortexUBERON:000212966.84gold quality
ovaryUBERON:000099266.50gold quality
right hemisphere of cerebellumUBERON:001489066.50gold quality
ganglionic eminenceUBERON:000402366.40gold quality
omental fat padUBERON:001041466.11gold quality
peritoneumUBERON:000235866.04gold quality
cerebellumUBERON:000203765.04gold quality
adipose tissue of abdominal regionUBERON:000780864.91gold quality
C1 segment of cervical spinal cordUBERON:000646964.79gold quality
lower esophagus mucosaUBERON:003583464.72gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes4.34
E-GEOD-99795no20.18

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

9 targeting TEKT3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-117999.7168.701040
HSA-MIR-105-5P99.5469.242060
HSA-MIR-7853-5P99.5469.302055
HSA-MIR-149-5P99.2567.161315
HSA-MIR-501-5P98.7768.881328
HSA-MIR-500A-5P98.7669.131241
HSA-MIR-6824-5P97.4168.43583
HSA-MIR-427895.2865.49351
HSA-MIR-6789-5P94.0566.19285

Literature-anchored findings (GeneRIF, showing 1)

  • Bi-allelic human TEKT3 mutations cause male infertility with oligoasthenoteratozoospermia owing to acrosomal hypoplasia and reduced progressive motility. (PMID:36708031)

Cross-species orthologs

6 orthologs

OrganismSymbolGene ID
danio_reriotekt3ENSDARG00000045038
mus_musculusTekt3ENSMUSG00000042189
rattus_norvegicusTekt3ENSRNOG00000027212
drosophila_melanogasterCG17450FBGN0040028
drosophila_melanogasterCG32819FBGN0052819
drosophila_melanogasterCG32820FBGN0052820

Paralogs (5): TEKT2 (ENSG00000092850), TEKT5 (ENSG00000153060), TEKT4 (ENSG00000163060), TEKT1 (ENSG00000167858), (ENSG00000274847)

Protein

Protein identifiers

Tektin-3 — Q9BXF9 (reviewed: Q9BXF9)

All UniProt accessions (6): Q9BXF9, F5GZV8, F5H115, F5H4K1, F5H5M8, J3KPT7

UniProt curated annotations — full annotation on UniProt →

Function. Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia and flagellar axoneme. Forms filamentous polymers in the walls of ciliary and flagellar microtubules. Required for normal sperm mobility.

Subunit / interactions. Microtubule inner protein component of sperm flagellar doublet microtubules. Interacts with TEKT1, TEKT2, TEKT4 and TEKT5. Interacts with CCDC38.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium axoneme. Flagellum axoneme. Cytoplasmic vesicle. Secretory vesicle. Acrosome outer membrane.

Tissue specificity. Expressed in spermatozoa. Expressed in airway epithelial cells.

Post-translational modifications. N- and O-glycosylated. May be proteolytically processed during the epididymal transit of spermatozoa. Ubiquitinated, leading to its degradation. Deubiquitinated by USP16, promoting its stability.

Disease relevance. Spermatogenic failure 81 (SPGF81) [MIM:620277] A male infertility disorder due to oligoasthenoteratozoospermia and characterized by reduced progressive sperm motility. Patient spermatozoa exhibit acrosomal hypoplasia and detachment of the acrosome from the sperm head. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the tektin family.

RefSeq proteins (1): NP_114104* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000435TektinsFamily
IPR048256Tektin-likeFamily

Pfam: PF03148

UniProt features (18 total): glycosylation site 9, sequence variant 6, chain 1, coiled-coil region 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDBMethodResolution (Å)
7UNGELECTRON MICROSCOPY3.6

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9BXF9-F185.970.73

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (9): 344, 7, 9, 10, 41, 86, 103, 111, 276

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 85 (showing top): chr17p12, GOCC_SECRETORY_GRANULE, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_ORGANELLE_ASSEMBLY, GOBP_MULTI_MULTICELLULAR_ORGANISM_PROCESS, GOBP_CELL_PROJECTION_ORGANIZATION, GOCC_ACROSOMAL_MEMBRANE, GOCC_CYTOPLASMIC_REGION, GOCC_SECRETORY_VESICLE, GOCC_MOTILE_CILIUM, GOCC_SPERM_PRINCIPAL_PIECE, GOCC_SPERM_MIDPIECE, GOCC_SECRETORY_GRANULE_MEMBRANE

GO Biological Process (4): flagellated sperm motility (GO:0030317), cilium assembly (GO:0060271), cilium movement involved in cell motility (GO:0060294), regulation of brood size (GO:0060378)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (16): acrosomal vesicle (GO:0001669), acrosomal membrane (GO:0002080), outer acrosomal membrane (GO:0002081), nucleus (GO:0005634), axonemal microtubule (GO:0005879), microtubule cytoskeleton (GO:0015630), sperm flagellum (GO:0036126), extracellular exosome (GO:0070062), axonemal A tubule inner sheath (GO:0160111), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), motile cilium (GO:0031514), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure4
cilium-dependent cell motility2
cilium movement involved in cell motility1
sperm motility1
axoneme assembly1
intraciliary transport involved in cilium assembly1
cilium organization1
protein localization to cilium1
organelle assembly1
trans-Golgi to periciliary membrane compartment transport1
plasma membrane bounded cell projection assembly1
ciliary transition zone assembly1
cilium movement1
cell motility1
multi-multicellular organism process1
multicellular organismal reproductive process1
biological regulation1
binding1
secretory granule1
acrosomal vesicle1
secretory granule membrane1
acrosomal membrane1
cytoplasmic vesicle membrane1
intracellular membrane-bounded organelle1
cytoplasmic microtubule1
axoneme1
cytoskeleton1
9+2 motile cilium1
extracellular vesicle1
A axonemal microtubule1
axonemal microtubule doublet inner sheath1
intracellular anatomical structure1
intracellular membraneless organelle1
intraciliary transport particle1
membrane-bounded organelle1
plasma membrane bounded cell projection1
cytoplasm1
intracellular vesicle1
cilium1

Protein interactions and networks

STRING

1308 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
TEKT3CD164L2Q6UWJ8647
TEKT3TCP11Q8WWU5624
TEKT3CDRT15Q96T59580
TEKT3CDRT4Q8N9R6571
TEKT3TVP23BQ9NYZ1540
TEKT3KRTAP8-1Q8IUC2478
TEKT3CLGNO14967447
TEKT3ARMC3Q5W041443
TEKT3CTXN3Q4LDR2441
TEKT3NME5P56597435
TEKT3AKAP3O75969419
TEKT3TVP23CQ96ET8418
TEKT3COX10Q12887417
TEKT3A0A0A6YYB9A0A0A6YYB9411
TEKT3TGM4P49221407
TEKT3CABYRO75952407

IntAct

113 interactions, top by confidence:

ABTypeScore
TRAF2TEKT3psi-mi:“MI:0915”(physical association)0.720
TEKT3CALCOCO2psi-mi:“MI:0915”(physical association)0.670
GORASP2TEKT3psi-mi:“MI:0915”(physical association)0.670
CALCOCO2TEKT3psi-mi:“MI:0915”(physical association)0.670
TEKT3GORASP2psi-mi:“MI:0915”(physical association)0.670
SPAG8TEKT3psi-mi:“MI:0915”(physical association)0.600
TNS2TEKT3psi-mi:“MI:0915”(physical association)0.560
RFX6TEKT3psi-mi:“MI:0915”(physical association)0.560
KRT34TEKT3psi-mi:“MI:0915”(physical association)0.560
RAMACTEKT3psi-mi:“MI:0915”(physical association)0.560
ATN1TEKT3psi-mi:“MI:0915”(physical association)0.560
TEKT3KRTAP3-1psi-mi:“MI:0915”(physical association)0.560
KRTAP26-1TEKT3psi-mi:“MI:0915”(physical association)0.560
HNRNPH1TEKT3psi-mi:“MI:0915”(physical association)0.560
KRTAP6-1TEKT3psi-mi:“MI:0915”(physical association)0.560
KRTAP19-5TEKT3psi-mi:“MI:0915”(physical association)0.560
LASP1TEKT3psi-mi:“MI:0915”(physical association)0.560
INSCTEKT3psi-mi:“MI:0915”(physical association)0.560
KRTAP15-1TEKT3psi-mi:“MI:0915”(physical association)0.560
ASPGTEKT3psi-mi:“MI:0915”(physical association)0.560
ARID5ATEKT3psi-mi:“MI:0915”(physical association)0.560

BioGRID (48): TEKT3 (Two-hybrid), TEKT3 (Two-hybrid), TEKT3 (Two-hybrid), TEKT3 (Two-hybrid), CLUH (Affinity Capture-MS), LIMD1 (Affinity Capture-MS), ZNF703 (Affinity Capture-MS), TYSND1 (Affinity Capture-MS), PITRM1 (Affinity Capture-MS), PRRC2A (Affinity Capture-MS), TEKT3 (Two-hybrid), TEKT3 (Two-hybrid), TEKT3 (Two-hybrid), TEKT3 (Two-hybrid), TEKT3 (Two-hybrid)

ESM2 similar proteins: A1A5Q4, A4IH82, A6H782, A7S8T5, F7F3Q2, G5E8A8, O35594, O46469, Q0E908, Q149S1, Q26648, Q29RL1, Q2T9Q6, Q2TA16, Q2TA38, Q2YDI7, Q32KZ9, Q3SYS9, Q4R353, Q4R5V1, Q4R7G7, Q4V8G8, Q5PPV2, Q5RHQ8, Q5U584, Q5XIJ8, Q6AXV2, Q6AYM2, Q6DFJ6, Q6DGZ3, Q6PE87, Q6X6Z7, Q8CI04, Q8IXS2, Q8IYR0, Q8VHI7, Q8WW24, Q8WYA0, Q922G7, Q95JU3

Diamond homologs: A6H782, F7F3Q2, G5E8A8, P86230, Q149S1, Q1W6C3, Q26648, Q2T9Q6, Q2TA38, Q2YDI7, Q32KZ9, Q4R353, Q4R5V1, Q4V8G8, Q5PPV2, Q6AXV2, Q6AYM2, Q6X6Z7, Q8WW24, Q8WZ33, Q922G7, Q969V4, Q96M29, Q99JD2, Q9BXF9, Q9DAJ2, Q9TTW3, Q9UIF3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 34 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:

PathwayPartnersFoldFDR
Keratinization820.3×2e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic4
Likely pathogenic1
Uncertain significance105
Likely benign1
Benign1

Top pathogenic / likely-pathogenic (5)

Variant IDHGVSClassification
2443973NM_031898.3(TEKT3):c.543_547delinsTTGA (p.Glu182_Arg183delinsTer)Pathogenic
2443974NM_031898.3(TEKT3):c.548G>A (p.Arg183Gln)Pathogenic
2443975NM_031898.3(TEKT3):c.752A>C (p.Gln251Pro)Pathogenic
598751Single allelePathogenic
4849436NM_031898.3(TEKT3):c.734+1G>ALikely pathogenic

SpliceAI

1205 predictions. Top by Δscore:

VariantEffectΔscore
17:15308668:G:Cdonor_gain1.0000
17:15308819:C:CCacceptor_gain1.0000
17:15308819:C:CGacceptor_loss1.0000
17:15308821:G:Cacceptor_gain1.0000
17:15312254:TTTAC:Tdonor_loss1.0000
17:15312255:TTAC:Tdonor_loss1.0000
17:15312256:TACC:Tdonor_loss1.0000
17:15312257:A:ATdonor_loss1.0000
17:15312258:C:Adonor_loss1.0000
17:15312477:AGACA:Aacceptor_gain1.0000
17:15312478:GACA:Gacceptor_gain1.0000
17:15312479:ACA:Aacceptor_gain1.0000
17:15312480:CA:Cacceptor_gain1.0000
17:15312480:CAC:Cacceptor_gain1.0000
17:15312482:C:CCacceptor_gain1.0000
17:15312482:C:CGacceptor_loss1.0000
17:15312483:T:Cacceptor_loss1.0000
17:15314085:A:ACdonor_gain1.0000
17:15314086:C:CCdonor_gain1.0000
17:15314086:CGTTG:Cdonor_gain1.0000
17:15328072:CTAC:Cacceptor_gain1.0000
17:15304148:CAAGG:Cacceptor_gain0.9900
17:15304151:GG:Gacceptor_gain0.9900
17:15304153:C:CCacceptor_gain0.9900
17:15304888:C:Adonor_gain0.9900
17:15304892:TAA:Tdonor_gain0.9900
17:15304893:AAA:Adonor_gain0.9900
17:15304928:T:TAdonor_gain0.9900
17:15308658:CCTTA:Cdonor_loss0.9900
17:15308659:CTTAC:Cdonor_loss0.9900

AlphaMissense

3234 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
17:15312462:A:GW300R0.998
17:15312462:A:TW300R0.998
17:15314182:T:AK261N0.998
17:15314182:T:GK261N0.998
17:15312460:C:AW300C0.997
17:15312460:C:GW300C0.997
17:15303980:G:TR477S0.996
17:15312416:C:GR315P0.996
17:15331140:C:GR149P0.996
17:15314175:C:GA264P0.995
17:15314204:A:GL254P0.995
17:15331065:A:GL174P0.995
17:15312408:A:GS318P0.994
17:15314184:T:CK261E0.994
17:15328040:T:AR205S0.994
17:15328040:T:GR205S0.994
17:15328050:C:GR202P0.994
17:15331121:A:CF155L0.994
17:15331121:A:TF155L0.994
17:15331123:A:GF155L0.994
17:15304023:T:AK462N0.993
17:15304023:T:GK462N0.993
17:15314183:T:AK261I0.993
17:15327999:A:GL219P0.993
17:15331141:G:TR149S0.993
17:15331245:C:GR114P0.993
17:15331291:A:GW99R0.993
17:15331291:A:TW99R0.993
17:15308713:G:TR403S0.992
17:15308721:A:GL400P0.992

dbSNP variants (sampled 300 via entrez): RS1000041739 (17:15316412 G>A,C), RS1000050600 (17:15322278 C>T), RS1000291032 (17:15310246 T>A,C,G), RS1000314703 (17:15307240 G>C), RS1000353338 (17:15304361 G>A), RS1000419373 (17:15340500 T>C), RS1000430140 (17:15338412 G>C,T), RS1000450455 (17:15340880 A>G,T), RS1000564172 (17:15313558 G>A), RS1000630009 (17:15327361 CATAA>C), RS1000654359 (17:15321138 T>C), RS1000686290 (17:15320521 A>G), RS1000736821 (17:15327309 A>G), RS1000769725 (17:15327552 A>C), RS1000948345 (17:15321013 A>T)

Disease associations

OMIM: gene MIM:612683 | disease phenotypes: MIM:118220, MIM:620277

GenCC curated gene-disease

DiseaseClassificationInheritance
spermatogenic failure 81LimitedUnknown

Mondo (2): Charcot-Marie-Tooth disease type 1A (MONDO:0007309), spermatogenic failure 81 (MONDO:0859522)

Orphanet (1): Charcot-Marie-Tooth disease type 1A (Orphanet:101081)

HPO phenotypes

6 total (6 of 6 shown, HPO-id order):

HPOTerm
HP:0000007Autosomal recessive inheritance
HP:0000798Oligozoospermia
HP:0003251Male infertility
HP:0006321Multiple non-erupting secondary teeth
HP:0034011Reduced progressive sperm motility
HP:0034913Acrosomal hypoplasia

GWAS associations

2 associations (top):

StudyTraitp-value
GCST003818_84Resting heart rate7.000000e-14
GCST004898_2Preterm birth (maternal effect)5.000000e-08

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0003917premature birth
EFO:0005939parental genotype effect measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

ChemicalActions (top 5)PubMed papers
Cadmium Chloridedecreases expression, increases abundance, increases expression3
Benzo(a)pyreneaffects methylation, increases expression, increases methylation2
bisphenol Aincreases expression1
potassium perchloratedecreases expression1
tris(2-butoxyethyl) phosphateaffects expression1
aflatoxin B2increases methylation1
CGP 52608affects binding, increases reaction1
Cadmiumincreases abundance, decreases expression1
Silicon Dioxideincreases expression1
Smokedecreases expression1
Testosteronedecreases expression1
Tobacco Smoke Pollutiondecreases expression1
Acrylamideincreases expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT02579759PHASE3COMPLETEDPhase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT)
NCT02600286PHASE2TERMINATEDUlipristal Acetate In Disease Charcot-Marie-Tooth Type of 1A
NCT02967679PHASE2COMPLETEDSERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study
NCT07140614PHASE1RECRUITINGA First in Human Study to Assess the Safety, Tolerability, and Pharmacokinetics of EDK060 in Adults With CMT1A.
NCT01289704PHASE2/PHASE3UNKNOWNTreadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A)
NCT06328712PHASE1/PHASE2RECRUITINGEvaluate the Safety and Efficacy of EN001 in Patients With Charcot-Marie-Tooth Disease Type 1A(CMT1A) (Phase 1b: Open-label, Dose-escalation, Single-center; Phase 2a: Randomized, Double-blind, Placebo-controlled, Multicenter)
NCT02357355Not specifiedCOMPLETEDDriving Ability in Patients With CMT 1A
NCT02596191Not specifiedACTIVE_NOT_RECRUITINGTools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers
NCT03278093Not specifiedUNKNOWNEffect of Orthoses and Underfoot Vibration on Balance in Neuropathy
NCT06794489Not specifiedRECRUITINGLongitudinal Biomarkers With Selected Outcome Measures In CMT
NCT07049588Not specifiedRECRUITINGIdentification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease
NCT07461896Not specifiedRECRUITINGStudying Nerve Function and Structure in Charcot-Marie-Tooth Disease, Anti-MAG Neuropathy and CIDP
NCT07476365Not specifiedRECRUITINGA Multi-omic Approach to the Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease (CMT1A)
NCT07570446Not specifiedRECRUITINGAUTONOMOUS DISORDERS IN CMT

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
v1.1.4
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