Atlas of Genetics and Cytogenetics in Oncology and Haematology


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THBD (thrombomodulin)

Identity

Alias (NCBI)AHUS6
BDCA-3
BDCA3
CD141
THPH12
THRM
TM
HGNC (Hugo) THBD
HGNC Alias symbCD141
THRM
BDCA-3
HGNC Alias namefetomodulin
LocusID (NCBI) 7056
Atlas_Id 45938
Location 20p11.21  [Link to chromosome band 20p11]
Location_base_pair Starts at 23045633 and ends at 23049672 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)THBD   11784
LRG (Locus Reference Genomic)LRG_168
Cards
Entrez_Gene (NCBI)THBD    thrombomodulin
AliasesAHUS6; BDCA-3; BDCA3; CD141; 
THPH12; THRM; TM
GeneCards (Weizmann)THBD
Ensembl hg19 (Hinxton)ENSG00000178726 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000178726 [Gene_View]  ENSG00000178726 [Sequence]  chr20:23045633-23049672 [Contig_View]  THBD [Vega]
ICGC DataPortalENSG00000178726
TCGA cBioPortalTHBD
AceView (NCBI)THBD
Genatlas (Paris)THBD
SOURCE (Princeton)THBD
Genetics Home Reference (NIH)THBD
Genomic and cartography
GoldenPath hg38 (UCSC)THBD  -     chr20:23045633-23049672 -  20p11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)THBD  -     20p11.21   [Description]    (hg19-Feb_2009)
GoldenPathTHBD - 20p11.21 [CytoView hg19]  THBD - 20p11.21 [CytoView hg38]
ImmunoBaseENSG00000178726
Genome Data Viewer NCBITHBD [Mapview hg19]  
OMIM188040   612926   614486   
Gene and transcription
Genbank (Entrez)AI285986 AK091934 AK123557 BC035602 BC053357
RefSeq transcript (Entrez)NM_000361
Consensus coding sequences : CCDS (NCBI)THBD
Gene ExpressionTHBD [ NCBI-GEO ]   THBD [ EBI - ARRAY_EXPRESS ]   THBD [ SEEK ]   THBD [ MEM ]
Gene Expression Viewer (FireBrowse)THBD [ Firebrowse - Broad ]
GenevisibleExpression of THBD in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7056
GTEX Portal (Tissue expression)THBD
Human Protein AtlasENSG00000178726-THBD [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP07204   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP07204  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP07204
PhosPhoSitePlusP07204
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    C_TYPE_LECTIN_2 (PS50041)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)   
Domains : Interpro (EBI)C-type_lectin-like    C-type_lectin-like/link_sf    CD141    cEGF    CTDL_fold    EGF-like_Ca-bd_dom    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    Growth_fac_rcpt_cys_sf    Tme5_EGF-like   
Domain families : Pfam (Sanger)cEGF (PF12662)    EGF_CA (PF07645)    Lectin_C (PF00059)    Tme5_EGF_like (PF09064)   
Domain families : Pfam (NCBI)pfam12662    pfam07645    pfam00059    pfam09064   
Domain families : Smart (EMBL)CLECT (SM00034)  EGF (SM00181)  EGF_CA (SM00179)  
Conserved Domain (NCBI)THBD
PDB (RSDB)1ADX    1DQB    1DX5    1EGT    1FGD    1FGE    1HLT    1TMR    1ZAQ    2ADX    3GIS    5TO3   
PDB Europe1ADX    1DQB    1DX5    1EGT    1FGD    1FGE    1HLT    1TMR    1ZAQ    2ADX    3GIS    5TO3   
PDB (PDBSum)1ADX    1DQB    1DX5    1EGT    1FGD    1FGE    1HLT    1TMR    1ZAQ    2ADX    3GIS    5TO3   
PDB (IMB)1ADX    1DQB    1DX5    1EGT    1FGD    1FGE    1HLT    1TMR    1ZAQ    2ADX    3GIS    5TO3   
Structural Biology KnowledgeBase1ADX    1DQB    1DX5    1EGT    1FGD    1FGE    1HLT    1TMR    1ZAQ    2ADX    3GIS    5TO3   
SCOP (Structural Classification of Proteins)1ADX    1DQB    1DX5    1EGT    1FGD    1FGE    1HLT    1TMR    1ZAQ    2ADX    3GIS    5TO3   
CATH (Classification of proteins structures)1ADX    1DQB    1DX5    1EGT    1FGD    1FGE    1HLT    1TMR    1ZAQ    2ADX    3GIS    5TO3   
SuperfamilyP07204
AlphaFold pdb e-kbP07204   
Human Protein Atlas [tissue]ENSG00000178726-THBD [tissue]
HPRD01764
Protein Interaction databases
DIP (DOE-UCLA)P07204
IntAct (EBI)P07204
BioGRIDTHBD
STRING (EMBL)THBD
ZODIACTHBD
Ontologies - Pathways
QuickGOP07204
Ontology : AmiGOtransmembrane signaling receptor activity  calcium ion binding  protein binding  extracellular space  vacuolar membrane  plasma membrane  integral component of plasma membrane  female pregnancy  blood coagulation  external side of plasma membrane  cell surface  response to X-ray  negative regulation of platelet activation  apicolateral plasma membrane  negative regulation of blood coagulation  response to lipopolysaccharide  signaling receptor activity  leukocyte migration  response to cAMP  negative regulation of fibrinolysis  
Ontology : EGO-EBItransmembrane signaling receptor activity  calcium ion binding  protein binding  extracellular space  vacuolar membrane  plasma membrane  integral component of plasma membrane  female pregnancy  blood coagulation  external side of plasma membrane  cell surface  response to X-ray  negative regulation of platelet activation  apicolateral plasma membrane  negative regulation of blood coagulation  response to lipopolysaccharide  signaling receptor activity  leukocyte migration  response to cAMP  negative regulation of fibrinolysis  
Pathways : KEGGComplement and coagulation cascades   
NDEx NetworkTHBD
Atlas of Cancer Signalling NetworkTHBD
Wikipedia pathwaysTHBD
Orthology - Evolution
OrthoDB7056
GeneTree (enSembl)ENSG00000178726
Phylogenetic Trees/Animal Genes : TreeFamTHBD
Homologs : HomoloGeneTHBD
Homology/Alignments : Family Browser (UCSC)THBD
Gene fusions - Rearrangements
Fusion : QuiverTHBD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTHBD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)THBD
dbVarTHBD
ClinVarTHBD
MonarchTHBD
1000_GenomesTHBD 
Exome Variant ServerTHBD
GNOMAD BrowserENSG00000178726
Varsome BrowserTHBD
ACMGTHBD variants
VarityP07204
Genomic Variants (DGV)THBD [DGVbeta]
DECIPHERTHBD [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTHBD 
Mutations
ICGC Data PortalTHBD 
TCGA Data PortalTHBD 
Broad Tumor PortalTHBD
OASIS PortalTHBD [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTHBD  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTHBD
Mutations and Diseases : HGMDTHBD
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTHBD
DgiDB (Drug Gene Interaction Database)THBD
DoCM (Curated mutations)THBD
CIViC (Clinical Interpretations of Variants in Cancer)THBD
Cancer3DTHBD
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM188040    612926    614486   
Orphanet18810    23331   
DisGeNETTHBD
MedgenTHBD
Genetic Testing Registry THBD
NextProtP07204 [Medical]
GENETestsTHBD
Target ValidationTHBD
Huge Navigator THBD [HugePedia]
ClinGenTHBD
Clinical trials, drugs, therapy
MyCancerGenomeTHBD
Protein Interactions : CTDTHBD
Pharm GKB GenePA36496
PharosP07204
Clinical trialTHBD
Miscellaneous
canSAR (ICR)THBD
HarmonizomeTHBD
DataMed IndexTHBD
Probes
Litterature
PubMed311 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTHBD
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:34:59 CEST 2021

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