Format

Send to:

Choose Destination

THBD thrombomodulin [ Homo sapiens (human) ]

Gene ID: 7056, updated on 29-Nov-2020

Summary

Official Symbol
THBDprovided by HGNC
Official Full Name
thrombomodulinprovided by HGNC
Primary source
HGNC:HGNC:11784
See related
Ensembl:ENSG00000178726 MIM:188040
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TM; THRM; AHUS6; BDCA3; CD141; BDCA-3; THPH12
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 generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008]
Orthologs

Genomic context

See THBD in Genome Data Viewer
Location:
20p11.21
Exon count:
1
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (23045633..23049672, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (23026270..23030301, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929707 Neighboring gene somatostatin receptor 4 Neighboring gene CD93 molecule Neighboring gene long intergenic non-protein coding RNA 656

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Atypical hemolytic-uremic syndrome 6 not available
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
GeneReviews: Not available
Thrombophilia due to thrombomodulin defect
MedGen: C3280976 OMIM: 614486 GeneReviews: Not available
not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of thrombomodulin (THBD) in peptide-treated PBMCs PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
transmembrane signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
 
female pregnancy IEA
Inferred from Electronic Annotation
more info
 
leukocyte migration TAS
Traceable Author Statement
more info
 
negative regulation of blood coagulation TAS
Traceable Author Statement
more info
PubMed 
negative regulation of fibrinolysis TAS
Traceable Author Statement
more info
PubMed 
negative regulation of platelet activation TAS
Traceable Author Statement
more info
PubMed 
response to X-ray IEA
Inferred from Electronic Annotation
more info
 
response to cAMP IEA
Inferred from Electronic Annotation
more info
 
response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apicolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
vacuolar membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
thrombomodulin
Names
CD141 antigen
fetomodulin

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012027.1 RefSeqGene

    Range
    5001..9032
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_168

mRNA and Protein(s)

  1. NM_000361.3NP_000352.1  thrombomodulin precursor

    See identical proteins and their annotated locations for NP_000352.1

    Status: REVIEWED

    Source sequence(s)
    AI285986, AL049651, BG771668, M16552
    Consensus CDS
    CCDS13148.1
    UniProtKB/Swiss-Prot
    P07204
    Related
    ENSP00000366307.2, ENST00000377103.3
    Conserved Domains (4) summary
    cd03600
    Location:30171
    CLECT_thrombomodulin_like; C-type lectin-like domain (CTLD) of the type found in human thrombomodulin(TM), Endosialin, C14orf27, and C1qR
    smart00179
    Location:441468
    EGF_CA; Calcium-binding EGF-like domain
    pfam09064
    Location:406439
    Tme5_EGF_like; Thrombomodulin like fifth domain, EGF-like
    pfam14670
    Location:245280
    FXa_inhibition; Coagulation Factor Xa inhibitory site

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    23045633..23049672 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center