THBD (thrombomodulin)

Gene
Gene SNPs Transcription factors Other IDs Associated diseases
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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AHUS6, THPH12
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.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(10)
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.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(174)
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
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(14)
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.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(20)
GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity IEA
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 14691232, 17379830, 32296183
GO:0005615 Component Extracellular space IEA
GO:0005774 Component Vacuolar membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
188040 11784 ENSG00000178726
Protein
Gene SNPs Transcription factors Other IDs Associated diseases
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
RWARLDLNGAPLCGPLCVAVSAAEATVPSEPIWEEQQCEVKADGFLCEFHFPATCRPLAV
EPGAAAAAVSITYGTPFAARGADFQALPVGSSAAVAPLGLQLMCTAPPGAVQGHWAREAP
GAWDCSVENGGCEHACNAIPGAPRCQCPAGAALQADGRSCTASATQSCNDLCEHFCVPNP
DQPGSYSCMCETGYRLAADQHRCEDVDDCILEPSPCPQRCVNTQGGFECHCYPNYDLVDG
ECVEPVDPCFRANCEYQCQPLNQTSYLCVCAEGFAPIPHEPHRCQMFCNQTACPADCDPN
TQASCECPEGYILDDGFICTDIDECENGGFCSGVCHNLPGTFECICGPDSALARHIGTDC
DSGKVDGGDSGSGEPPPSPTPGSTLTPPAVGLVHSGLLIGISIASLCLVVALLALLCHLR
KKQGAARAKMEYKCAAPSKEVVLQHVRTERTPQRL
Sequence length 575
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Hemolytic Uremic Syndrome atypical hemolytic-uremic syndrome with thrombomodulin anomaly GenCC
Show/Hide Text Mining Associations (185)
Associations from Text Mining
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