THBD (thrombomodulin)

2007-02-01  

Identity

HGNC
THBD
LOCATION
20p11.21
LOCUSID
7056
ALIAS
AHUS6,BDCA-3,BDCA3,CD141,THPH12,THRM,TM

Other Information

Locus ID:

NCBI: 7056
MIM: 188040
HGNC: 11784
Ensembl: ENSG00000178726

Variants:

dbSNP: 7056
ClinVar: 7056
TCGA: ENSG00000178726
COSMIC: THBD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000178726ENST00000377103P07204

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Complement and coagulation cascadesKEGGko04610
Complement and coagulation cascadesKEGGhsa04610
HemostasisREACTOMER-HSA-109582
Formation of Fibrin Clot (Clotting Cascade)REACTOMER-HSA-140877
Common Pathway of Fibrin Clot FormationREACTOMER-HSA-140875
Cell surface interactions at the vascular wallREACTOMER-HSA-202733
AGE-RAGE signaling pathway in diabetic complicationsKEGGko04933
AGE-RAGE signaling pathway in diabetic complicationsKEGGhsa04933
Fluid shear stress and atherosclerosisKEGGko05418
Fluid shear stress and atherosclerosisKEGGhsa05418

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA451906warfarinChemicalClinicalAnnotationassociatedPD24602049

References

Pubmed IDYearTitleCitations
379799492024Novel nucleotide variations in the thrombomodulin (THBD) gene involved in coagulation pathways can increase the risk of recurrent pregnancy loss (RPL).0
380817832024The role of thrombomodulin in modulating ITGB3 expression and its implications for triple-negative breast cancer progression.0
381745612024Thrombomodulin Switches Signaling and Protease-Activated Receptor 1 Cleavage Specificity of Thrombin.1
383305392024Altered release of thrombomodulin and HMGB1 in the placenta complicated with preeclampsia.0
383734112024Thrombomodulin Gene Mutation and Associated Predisposing Factors in Familial Collapsing Glomerulopathy.0
379799492024Novel nucleotide variations in the thrombomodulin (THBD) gene involved in coagulation pathways can increase the risk of recurrent pregnancy loss (RPL).0
380817832024The role of thrombomodulin in modulating ITGB3 expression and its implications for triple-negative breast cancer progression.0
381745612024Thrombomodulin Switches Signaling and Protease-Activated Receptor 1 Cleavage Specificity of Thrombin.1
383305392024Altered release of thrombomodulin and HMGB1 in the placenta complicated with preeclampsia.0
383734112024Thrombomodulin Gene Mutation and Associated Predisposing Factors in Familial Collapsing Glomerulopathy.0
359219232023A missense mutation in lectin domain of thrombomodulin causing functional deficiency.1
375674462023On the relevance of thrombomodulin variants in atypical hemolytic uremic syndrome.0
380573352023Variation in presepsin and thrombomodulin levels for predicting COVID-19 mortality.1
359219232023A missense mutation in lectin domain of thrombomodulin causing functional deficiency.1
375674462023On the relevance of thrombomodulin variants in atypical hemolytic uremic syndrome.0

Citation

Dessen P

THBD (thrombomodulin)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45938/tumors-explorer/gene-fusions-explorer/meetings/css/card-gene.css