Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7056
Gene name Gene Name - the full gene name approved by the HGNC.
Thrombomodulin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
THBD
Synonyms (NCBI Gene) Gene synonyms aliases
AHUS6, BDCA-3, BDCA3, CD141, THPH12, THRM, TM
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p11.21
Summary Summary of gene provided in NCBI Entrez Gene.
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 gener
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1800576 C>T Conflicting-interpretations-of-pathogenicity, risk-factor, likely-benign Missense variant, coding sequence variant
rs1800578 G>A,T Risk-factor, likely-benign Missense variant, coding sequence variant
rs1800579 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Missense variant, coding sequence variant
rs16984852 C>A Pathogenic 5 prime UTR variant
rs121918667 T>C Risk-factor Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017044 hsa-miR-335-5p Microarray 18185580
MIRT024294 hsa-miR-215-5p Microarray 19074876
MIRT026159 hsa-miR-192-5p Microarray 19074876
MIRT636182 hsa-miR-4436b-3p HITS-CLIP 23824327
MIRT636181 hsa-miR-4632-5p HITS-CLIP 23824327
Transcription factors
Transcription factor Regulation Reference
EP300 Repression 15677570
KLF2 Activation 19661484
KLF4 Activation 19661484
NFKB1 Repression 17211835;22406829
PARP1 Activation 21489980
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity IEA
GO:0005509 Function Calcium ion binding IEA
GO:0005509 Function Calcium ion binding TAS 10336638
GO:0005515 Function Protein binding IPI 14691232, 17379830, 32296183
GO:0005615 Component Extracellular space IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
188040 11784 ENSG00000178726
Protein
UniProt ID P07204
Protein name Thrombomodulin (TM) (Fetomodulin) (CD antigen CD141)
Protein function Endothelial cell receptor that plays a critical role in regulating several physiological processes including hemostasis, coagulation, fibrinolysis, inflammation, and angiogenesis (PubMed:10761923). Acts as a cofactor for thrombin activation of p
PDB 1ADX , 1DQB , 1DX5 , 1EGT , 1FGD , 1FGE , 1HLT , 1TMR , 1ZAQ , 2ADX , 3GIS , 5TO3 , 7T4R
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00059 Lectin_C 41 169 Lectin C-type domain Domain
PF14670 FXa_inhibition 245 280 Domain
PF12662 cEGF 305 328 Complement Clr-like EGF-like Domain
Tissue specificity TISSUE SPECIFICITY: Endothelial cells are unique in synthesizing thrombomodulin.
Sequence
MLGVLVLGALALAGLGFPAPAEPQPGGSQCVEHDCFALYPGPATFLNASQICDGLRGHLM
TVRSSVAADVISLLLNGDGGVGRRRLWIGLQLPPGCGDPKRLGPLRGFQWVTGDNNTSYS
RWARLDLNGAPLCGPLCVAVSAAEATVPSEPIWEEQQCEVKADGFLCEF
HFPATCRPLAV
EPGAAAAAVSITYGTPFAARGADFQALPVGSSAAVAPLGLQLMCTAPPGAVQGHWAREAP
GAWDCSVENGGCEHACNAIPGAPRCQCPAGAALQADGRSCTASATQSCNDLCEHFCVPNP
DQPGSYSCMCETGYRLAADQHRCEDVDDCILEPSPCPQRCVNTQGGFECHCYPNYDLVDG
ECVEPVDPCFRANCEYQCQPLNQTSYLCVCAEGFAPIPHEPHRCQMFCNQTACPADCDPN
TQASCECPEGYILDDGFICTDIDECENGGFCSGVCHNLPGTFECICGPDSALARHIGTDC
DSGKVDGGDSGSGEPPPSPTPGSTLTPPAVGLVHSGLLIGISIASLCLVVALLALLCHLR
KKQGAARAKMEYKCAAPSKEVVLQHVRTERTPQRL
Sequence length 575
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Complement and coagulation cascades
AGE-RAGE signaling pathway in diabetic complications
Fluid shear stress and atherosclerosis
  Common Pathway of Fibrin Clot Formation
Cell surface interactions at the vascular wall
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hemolytic Uremic Syndrome Atypical hemolytic-uremic syndrome with thrombomodulin anomaly rs1600410451 N/A
Thrombomodulin-related bleeding disorder thrombomodulin-related bleeding disorder rs2122673257 N/A
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Associate 29195508
Abortion Spontaneous Inhibit 20051099
Abortion Spontaneous Associate 29195508
Acute Kidney Injury Associate 34190147
Adenocarcinoma Associate 12194995, 1357974, 33762601
Airway Remodeling Associate 16390543
Anemia Sickle Cell Associate 22052675
Angina Stable Associate 18035074
Aortic Aneurysm Abdominal Associate 25993293
Arterial Occlusive Diseases Associate 10627464