THBD

Chr 20AD

thrombomodulin

Also known as: AHUS6, BDCA-3, BDCA3, CD141, THPH12, THRM, TM

NCBI Gene: 7056ENSG00000178726UniProt: P07204OMIM: 188040

The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Hemolytic uremic syndrome, atypical, susceptibility to, 6}MIM #612926
AD
Thrombophilia 12 due to thrombomodulin defectMIM #614486
AD
UniProtThrombophilia due to thrombomodulin defect

Clinical highlights

Gene-disease validity (ClinGen)
thrombomodulin-related bleeding disorder · ADModerateconsider for supplementary testing3 gene-disease associations curated in total
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
6
Active trials
60
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.79
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.79LOEUF
pLI 0.054
Z-score 2.06
OE 0.35 (0.17–0.79)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.60Z-score
OE missense 0.91 (0.82–1.00)
299 obs / 329.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.35 (0.17–0.79)
0≤0.351.4
Missense OE?0.91 (0.82–1.00)
0≤0.61.4
Synonymous OE?1.16
0≤1.21.6
LoF obs/exp: 4 / 11.6Missense obs/exp: 299 / 329.8Syn Z: -1.52

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

THBD · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Prostate Cancer

Training for Men Undergoing Androgen Deprivation Therapy.

RECRUITING
NCT06449664Phase NAThe Swedish School of Sport and Health SciencesStarted 2024-05-01
ADT-train
Systemic Lupus ErythematosusSystemic Scleroderma MeetingANCA Vasculitis

ROLE of PLATELETS in the PATHOPHYSIOLOGY of SYSTEMIC LUPUS

RECRUITING
NCT06593041University Hospital, Strasbourg, FranceStarted 2024-01-09
Vaso-Occlusive CrisesSickle Cell Disease

Evaluation of the Efficacy of Iloprost in the Management of Vaso-occlusive Crises in Adult Patients With Sickle Cell Disease

NOT YET RECRUITING
NCT07498309Phase PHASE3University Hospital, RouenStarted 2026-09
IloprostPlacebo
Type 1 Diabetes

Effects of GRA in Patients With Type 1

ACTIVE NOT RECRUITING
NCT04779645Phase PHASE2University of California, San DiegoStarted 2021-07-31
REMD-477Placebo
Fabry DiseaseEndothelial DysfunctionMicrovasculature

Characterizing the Retinal Microvasculature in Patients with Fabry Disease: a Prospective Observational Study

RECRUITING
NCT06758648Technical University of MunichStarted 2020-06-25
Dynamic retinal vessel analysis (DVA)Biochemistry and immune phenotypingQuestionnaires (Patient reported outcomes)
Solid TumorMetastases to Soft Tissue

Intratumoral Injection of Autologous CD1c (BDCA-1)+ MyDC, Avelumab, and Ipilimumab Plus Systemic Nivolumab

RECRUITING
NCT03707808Phase PHASE1, PHASE2Universitair Ziekenhuis BrusselStarted 2018-01-29
intratumoral injection of autologous CD1c (BDCA-1)+ myDCIntratumoral injection of ipilimumab and AS01bIV nivolumab

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients