Gene Gene information from NCBI Gene database.
Entrez ID 7056
Gene name Thrombomodulin
Gene symbol THBD
Synonyms (NCBI Gene)
AHUS6BDCA-3BDCA3CD141THPH12THRMTM
Chromosome 20
Chromosome location 20p11.21
Summary 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.
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.
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 Transcription factors information provided by TRRUST V2 database.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
188040 11784 ENSG00000178726
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
303
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal bleeding Likely pathogenic rs1600409143, rs1600409323 RCV000852043
RCV000851928
Thrombocytopenia Likely pathogenic rs1600409143 RCV001270487
Thrombomodulin-related bleeding disorder Pathogenic; Likely pathogenic rs2122673257, rs1600409143, rs1600409323 RCV000013552
RCV005864529
RCV005864527
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal thrombosis Conflicting classifications of pathogenicity rs1600410451 RCV000852086
Atypical hemolytic-uremic syndrome Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign rs747413064, rs1300304839, rs1800576, rs1800578, rs373979588, rs1800579, rs1042579, rs759004623, rs370377519, rs73901577, rs1276712753, rs768667473 RCV002294689
RCV002294719
RCV001328105
RCV001328104
RCV000266038
RCV002294299
RCV002294300
RCV000277442
RCV002294302
RCV002294301
RCV001328106
RCV001328107
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign rs375147630, rs546519295, rs766710327, rs754342536, rs201487514, rs1292366066, rs1436540579, rs775671453, rs767341182, rs199987510, rs143748797, rs982068192, rs2122673111, rs1239586434, rs16984852
View all (116 more)
RCV005038068
RCV005023037
RCV002486436
RCV002476698
RCV002488311
RCV005038243
RCV002492164
RCV002486762
RCV005025682
RCV002482524
RCV002491904
RCV002479668
RCV002507781
RCV002497973
RCV001142106
RCV002482594
RCV002503399
RCV002482604
RCV002484531
RCV002507634
RCV002486728
RCV002486722
RCV005025541
RCV002507718
RCV003224609
RCV002507893
RCV005025781
RCV005028267
RCV005028255
RCV005025850
RCV005025932
RCV005027938
RCV005027955
RCV005027976
RCV005028124
RCV005028131
RCV000263795
RCV000013555
RCV000013556
RCV000013557
RCV005030059
RCV005030146
RCV005030163
RCV005030180
RCV005038559
RCV005030304
RCV005030314
RCV005038581
RCV003985054
RCV000374927
RCV000280442
RCV000400358
RCV000365928
RCV000332586
RCV000259944
RCV000321153
RCV000399087
RCV000356092
RCV000302594
RCV000270626
RCV004555264
RCV004560412
RCV000279336
RCV000341776
RCV000306556
RCV000367420
RCV000343703
RCV000347127
RCV000314265
RCV000298892
RCV000381293
RCV000299296
RCV000286840
RCV000312778
RCV000289808
RCV000400058
RCV000359344
RCV000324351
RCV000292987
RCV000349735
RCV000387967
RCV000334440
RCV000337785
RCV000315682
RCV000340614
RCV000395580
RCV000399570
RCV000354864
RCV000319907
RCV000374516
RCV000380431
RCV000286421
RCV000381937
RCV000352874
RCV000267007
RCV000328014
RCV000384952
RCV000397926
RCV000505639
RCV000768336
RCV005029418
RCV002466262
RCV005029450
RCV001143810
RCV001140269
RCV002481788
RCV001141890
RCV001143686
RCV001143687
RCV001143688
RCV001137135
RCV001137136
RCV001137137
RCV001139374
RCV001139375
RCV001141992
RCV001141993
RCV001143805
RCV001143806
RCV001143807
RCV001143808
RCV001143809
RCV001137250
RCV001139501
RCV001139502
RCV001139503
RCV001139504
RCV001140266
RCV001140267
RCV001140268
RCV001140270
RCV001142105
RCV005029854
RCV002499593
Kidney disorder Benign; Likely benign; Conflicting classifications of pathogenicity rs532533123, rs540826492, rs41348347 RCV002294454
RCV002294455
RCV002293979
Associations from Text MiningDisease 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