Gene
|
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.
|
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 |
rs398122807 |
C>A |
Pathogenic |
Coding sequence variant, missense variant |
rs1347587434 |
G>A,T |
Likely-pathogenic |
Synonymous variant, stop gained, coding sequence variant |
rs1600409143 |
G>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1600409323 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1600410451 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Transcription factors
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
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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 |
|
Sequence |
|
Sequence length |
575 |
Interactions |
View interactions |