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TMPRSS6 (transmembrane protease, serine 6)

Identity

Other namesIRIDA
HGNC (Hugo) TMPRSS6
LocusID (NCBI) 164656
Location 22q12.3
Location_base_pair Starts at 37461476 and ends at 37505603 bp from pter ( according to hg19-Feb_2009)
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)TMPRSS6   16517
Cards
Entrez_Gene (NCBI)TMPRSS6  164656  transmembrane protease, serine 6
GeneCards (Weizmann)TMPRSS6
Ensembl (Hinxton)ENSG00000187045 [Gene_View]  chr22:37461476-37505603 [Contig_View]  TMPRSS6 [Vega]
ICGC DataPortalENSG00000187045
cBioPortalTMPRSS6
AceView (NCBI)TMPRSS6
Genatlas (Paris)TMPRSS6
WikiGenes164656
SOURCE (Princeton)NM_001289000 NM_001289001 NM_153609
Genomic and cartography
GoldenPath (UCSC)TMPRSS6  -  22q12.3   chr22:37461476-37505603 -  22q12.3   [Description]    (hg19-Feb_2009)
EnsemblTMPRSS6 - 22q12.3 [CytoView]
Mapping of homologs : NCBITMPRSS6 [Mapview]
OMIM206200   609862   
Gene and transcription
Genbank (Entrez)AJ319876 AW295507 AY055384 AY358398 BC039082
RefSeq transcript (Entrez)NM_001289000 NM_001289001 NM_153609
RefSeq genomic (Entrez)AC_000154 NC_000022 NC_018933 NG_012856 NT_011520 NW_001838745 NW_004929430
Consensus coding sequences : CCDS (NCBI)TMPRSS6
Cluster EST : UnigeneHs.370885 [ NCBI ]
CGAP (NCI)Hs.370885
Alternative Splicing : Fast-db (Paris)GSHG0020368
Alternative Splicing GalleryENSG00000187045
Gene ExpressionTMPRSS6 [ NCBI-GEO ]     TMPRSS6 [ SEEK ]   TMPRSS6 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IU80 (Uniprot)
NextProtQ8IU80  [Medical]
With graphics : InterProQ8IU80
Splice isoforms : SwissVarQ8IU80 (Swissvar)
Catalytic activity : Enzyme3.4.21.- [ Enzyme-Expasy ]   3.4.21.-3.4.21.- [ IntEnz-EBI ]   3.4.21.- [ BRENDA ]   3.4.21.- [ KEGG ]   
Domaine pattern : Prosite (Expaxy)CUB (PS01180)    LDLRA_1 (PS01209)    LDLRA_2 (PS50068)    SEA (PS50024)    TRYPSIN_DOM (PS50240)    TRYPSIN_HIS (PS00134)    TRYPSIN_SER (PS00135)   
Domains : Interpro (EBI)CUB_dom [organisation]   LDrepeatLR_classA_rpt [organisation]   Pept_S1A_matriptase-2 [organisation]   Peptidase_S1 [organisation]   Peptidase_S1_AS [organisation]   Peptidase_S1A [organisation]   SEA_dom [organisation]   Trypsin-like_Pept_dom [organisation]  
Related proteins : CluSTrQ8IU80
Domain families : Pfam (Sanger)Ldl_recept_a (PF00057)    SEA (PF01390)    Trypsin (PF00089)   
Domain families : Pfam (NCBI)pfam00057    pfam01390    pfam00089   
Domain families : Smart (EMBL)CUB (SM00042)  LDLa (SM00192)  Tryp_SPc (SM00020)  
DMDM Disease mutations164656
Blocks (Seattle)Q8IU80
Human Protein AtlasENSG00000187045 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ8IU80
HPRD10270
IPIIPI00411302   IPI00249121   IPI00879123   IPI00478635   IPI00879510   IPI00879017   
Protein Interaction databases
DIP (DOE-UCLA)Q8IU80
IntAct (EBI)Q8IU80
FunCoupENSG00000187045
BioGRIDTMPRSS6
InParanoidQ8IU80
Interologous Interaction database Q8IU80
IntegromeDBTMPRSS6
STRING (EMBL)TMPRSS6
Ontologies - Pathways
Ontology : AmiGOangiogenesis  serine-type endopeptidase activity  protein binding  plasma membrane  proteolysis  integral component of membrane  extracellular matrix organization  intracellular signal transduction  fibrinolysis  iron ion homeostasis  
Ontology : EGO-EBIangiogenesis  serine-type endopeptidase activity  protein binding  plasma membrane  proteolysis  integral component of membrane  extracellular matrix organization  intracellular signal transduction  fibrinolysis  iron ion homeostasis  
Protein Interaction DatabaseTMPRSS6
Wikipedia pathwaysTMPRSS6
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)TMPRSS6
snp3D : Map Gene to Disease164656
SNP (GeneSNP Utah)TMPRSS6
SNP : HGBaseTMPRSS6
Genetic variants : HAPMAPTMPRSS6
Exome VariantTMPRSS6
1000_GenomesTMPRSS6 
ICGC programENSG00000187045 
Somatic Mutations in Cancer : COSMICTMPRSS6 
CONAN: Copy Number AnalysisTMPRSS6 
Mutations and Diseases : HGMDTMPRSS6
Genomic VariantsTMPRSS6  TMPRSS6 [DGVbeta]
dbVarTMPRSS6
ClinVarTMPRSS6
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM206200    609862   
MedgenTMPRSS6
GENETestsTMPRSS6
Disease Genetic AssociationTMPRSS6
Huge Navigator TMPRSS6 [HugePedia]  TMPRSS6 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneTMPRSS6
Homology/Alignments : Family Browser (UCSC)TMPRSS6
Phylogenetic Trees/Animal Genes : TreeFamTMPRSS6
Chemical/Protein Interactions : CTD164656
Chemical/Pharm GKB GenePA134880399
Clinical trialTMPRSS6
Cancer Resource (Charite)ENSG00000187045
Other databases
Probes
Litterature
PubMed68 Pubmed reference(s) in Entrez
CoreMineTMPRSS6
iHOPTMPRSS6
OncoSearchTMPRSS6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 30 14:19:06 CEST 2014

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