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THBD (thrombomodulin)
Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7056
Gene nameGene Name - the full gene name approved by the HGNC.
Thrombomodulin
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
THBD
SynonymsGene synonyms aliases
AHUS6, BDCA-3, BDCA3, CD141, THPH12, THRM, TM
ChromosomeChromosome number
20
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p11.21
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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 miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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 miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways 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
Sequence 
MLGVLVLGALALAGLGFPAPAEPQPGGSQCVEHDCFALYPGPATFLNASQICDGLRGHLM
TVRSSVAADVISLLLNGDGGVGRRRLWIGLQLPPGCGDPKRLGPLRGFQWVTGDNNTSYS
RWARLDLNGAPLCGPLCVAVSAAEATVPSEPIWEEQQCEVKADGFLCEFHFPATCRPLAV
EPGAAAAAVSITYGTPFAARGADFQALPVGSSAAVAPLGLQLMCTAPPGAVQGHWAREAP
GAWDCSVENGGCEHACNAIPGAPRCQCPAGAALQADGRSCTASATQSCNDLCEHFCVPNP
DQPGSYSCMCETGYRLAADQHRCEDVDDCILEPSPCPQRCVNTQGGFECHCYPNYDLVDG
ECVEPVDPCFRANCEYQCQPLNQTSYLCVCAEGFAPIPHEPHRCQMFCNQTACPADCDPN
TQASCECPEGYILDDGFICTDIDECENGGFCSGVCHNLPGTFECICGPDSALARHIGTDC
DSGKVDGGDSGSGEPPPSPTPGSTLTPPAVGLVHSGLLIGISIASLCLVVALLALLCHLR
KKQGAARAKMEYKCAAPSKEVVLQHVRTERTPQRL
Sequence length 575
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
 
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
Associated diseases
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Complement component deficiency Complement deficiency disease rs387906509, rs1467298230, rs1022194067, rs774370086, rs121964922, rs372345940, rs121913052, rs121913053, rs460897, rs121913054, rs121913056, rs121913058, rs796052138, rs41286844, rs121909592, rs34000044, rs121909594, rs121909587, rs121909588, rs387906554, rs587776846, rs2135727106, rs460184, rs775967055, rs398122811, rs140813121, rs146187042, rs372968576, rs398122867, rs398122868, rs9332736, rs398124644, rs142881576, rs531103546, rs764871530, rs778518669, rs139491301, rs61469168, rs1554718962, rs1565789104, rs1579848888, rs779723422, rs867425110, rs770367814
Gastric cancer Hereditary Diffuse Gastric Cancer rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208 16367923
Hemolytic uremic syndrome Hemolytic-Uremic Syndrome, Atypical Hemolytic Uremic Syndrome, Atypical hemolytic uremic syndrome with complement gene abnormality rs398124292, rs121964913, rs121964914, rs121964915, rs121918667, rs33972593, rs117905900, rs121909748, rs460897, rs796052136, rs121913055, rs796052137, rs121913060, rs121913063, rs1558056827, rs1255421232, rs1441937053, rs121909590, rs121909583, rs121909584, rs121909586, rs460184, rs104886189, rs312262694, rs312262697, rs312262698, rs312262696, rs138924661, rs869312973, rs886039869, rs886039868, rs886043418, rs1057516191, rs1131690796, rs1553273733, rs1553251787, rs777787526, rs769742294, rs775015499, rs1555599211, rs1558162157, rs1600410451, rs368615806, rs1573026975, rs1573087200, rs1571588257, rs147972030, rs1906529223, rs749415630, rs1573076111, rs1300996807, rs1571616755, rs1571617647, rs1579173999, rs1599510478 19625716
Hypertension Hypertensive disease rs13306026, rs13333226
Unknown
Disease name Disease term dbSNP ID References
Congenital thrombotic thrombocytopenic purpura Congenital Thrombotic Thrombocytopenic Purpura 7740478
Disseminated intravascular coagulation Disseminated Intravascular Coagulation 9134660
Microangiopathic hemolytic anemia Microangiopathic hemolytic anemia
Promyelocytic leukemia Acute Promyelocytic Leukemia 16206674

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