Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

TMPRSS6 (transmembrane protease, serine 6)

Identity

Alias_symbol (synonym)FLJ30744
HGNC (Hugo) TMPRSS6
LocusID (NCBI) 164656
Atlas_Id 46083
Location 22q12.3  [Link to chromosome band 22q12]
Location_base_pair Starts at 37461476 and ends at 37505603 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
DYNC1H1 (14q32.31) / TMPRSS6 (22q12.3)TMPRSS6 (22q12.3) / EME1 (17q21.33)TMPRSS6 22q12.3 / EME1 17q21.33

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
AliasesIRIDA
GeneCards (Weizmann)TMPRSS6
Ensembl hg19 (Hinxton)ENSG00000187045 [Gene_View]  chr22:37461476-37505603 [Contig_View]  TMPRSS6 [Vega]
Ensembl hg38 (Hinxton)ENSG00000187045 [Gene_View]  chr22:37461476-37505603 [Contig_View]  TMPRSS6 [Vega]
ICGC DataPortalENSG00000187045
TCGA cBioPortalTMPRSS6
AceView (NCBI)TMPRSS6
Genatlas (Paris)TMPRSS6
WikiGenes164656
SOURCE (Princeton)TMPRSS6
Genetics Home Reference (NIH)TMPRSS6
Genomic and cartography
GoldenPath hg19 (UCSC)TMPRSS6  -     chr22:37461476-37505603 -  22q12.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TMPRSS6  -     22q12.3   [Description]    (hg38-Dec_2013)
EnsemblTMPRSS6 - 22q12.3 [CytoView hg19]  TMPRSS6 - 22q12.3 [CytoView hg38]
Mapping of homologs : NCBITMPRSS6 [Mapview hg19]  TMPRSS6 [Mapview hg38]
OMIM206200   609862   
Gene and transcription
Genbank (Entrez)AJ319876 AW295507 AY055384 AY358398 BC039082
RefSeq transcript (Entrez)NM_001289000 NM_001289001 NM_153609
RefSeq genomic (Entrez)NC_000022 NC_018933 NG_012856 NT_011520 NW_004929430
Consensus coding sequences : CCDS (NCBI)TMPRSS6
Cluster EST : UnigeneHs.370885 [ NCBI ]
CGAP (NCI)Hs.370885
Alternative Splicing GalleryENSG00000187045
Gene ExpressionTMPRSS6 [ NCBI-GEO ]   TMPRSS6 [ EBI - ARRAY_EXPRESS ]   TMPRSS6 [ SEEK ]   TMPRSS6 [ MEM ]
Gene Expression Viewer (FireBrowse)TMPRSS6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)164656
GTEX Portal (Tissue expression)TMPRSS6
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IU80   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IU80  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IU80
Splice isoforms : SwissVarQ8IU80
Catalytic activity : Enzyme3.4.21.- [ Enzyme-Expasy ]   3.4.21.-3.4.21.- [ IntEnz-EBI ]   3.4.21.- [ BRENDA ]   3.4.21.- [ KEGG ]   
PhosPhoSitePlusQ8IU80
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    LDrepeatLR_classA_rpt    Pept_S1A_matriptase-2    Peptidase_S1_PA    Peptidase_S1A    SEA_dom    Trypsin_dom    TRYPSIN_HIS    TRYPSIN_SER   
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)  
Conserved Domain (NCBI)TMPRSS6
DMDM Disease mutations164656
Blocks (Seattle)TMPRSS6
SuperfamilyQ8IU80
Human Protein AtlasENSG00000187045
Peptide AtlasQ8IU80
HPRD10270
IPIIPI00411302   IPI00249121   IPI00879123   IPI00478635   IPI00879510   IPI00879017   
Protein Interaction databases
DIP (DOE-UCLA)Q8IU80
IntAct (EBI)Q8IU80
FunCoupENSG00000187045
BioGRIDTMPRSS6
STRING (EMBL)TMPRSS6
ZODIACTMPRSS6
Ontologies - Pathways
QuickGOQ8IU80
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  angiogenesis  serine-type endopeptidase activity  protein binding  extracellular space  intracellular  plasma membrane  proteolysis  cellular iron ion homeostasis  integral component of membrane  extracellular matrix organization  negative regulation of BMP signaling pathway  membrane protein proteolysis  intracellular signal transduction  fibrinolysis  negative regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  iron ion homeostasis  self proteolysis  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  angiogenesis  serine-type endopeptidase activity  protein binding  extracellular space  intracellular  plasma membrane  proteolysis  cellular iron ion homeostasis  integral component of membrane  extracellular matrix organization  negative regulation of BMP signaling pathway  membrane protein proteolysis  intracellular signal transduction  fibrinolysis  negative regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  iron ion homeostasis  self proteolysis  
NDEx NetworkTMPRSS6
Atlas of Cancer Signalling NetworkTMPRSS6
Wikipedia pathwaysTMPRSS6
Orthology - Evolution
OrthoDB164656
GeneTree (enSembl)ENSG00000187045
Phylogenetic Trees/Animal Genes : TreeFamTMPRSS6
HOVERGENQ8IU80
HOGENOMQ8IU80
Homologs : HomoloGeneTMPRSS6
Homology/Alignments : Family Browser (UCSC)TMPRSS6
Gene fusions - Rearrangements
Fusion : MitelmanTMPRSS6/EME1 [22q12.3/17q21.33]  
Fusion: TCGATMPRSS6 22q12.3 EME1 17q21.33 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMPRSS6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMPRSS6
dbVarTMPRSS6
ClinVarTMPRSS6
1000_GenomesTMPRSS6 
Exome Variant ServerTMPRSS6
ExAC (Exome Aggregation Consortium)TMPRSS6 (select the gene name)
Genetic variants : HAPMAP164656
Genomic Variants (DGV)TMPRSS6 [DGVbeta]
DECIPHER (Syndromes)22:37461476-37505603  ENSG00000187045
CONAN: Copy Number AnalysisTMPRSS6 
Mutations
ICGC Data PortalTMPRSS6 
TCGA Data PortalTMPRSS6 
Broad Tumor PortalTMPRSS6
OASIS PortalTMPRSS6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMPRSS6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTMPRSS6
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch TMPRSS6
DgiDB (Drug Gene Interaction Database)TMPRSS6
DoCM (Curated mutations)TMPRSS6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMPRSS6 (select a term)
intoGenTMPRSS6
Cancer3DTMPRSS6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM206200    609862   
Orphanet18680   
MedgenTMPRSS6
Genetic Testing Registry TMPRSS6
NextProtQ8IU80 [Medical]
TSGene164656
GENETestsTMPRSS6
Huge Navigator TMPRSS6 [HugePedia]
snp3D : Map Gene to Disease164656
BioCentury BCIQTMPRSS6
ClinGenTMPRSS6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD164656
Chemical/Pharm GKB GenePA134880399
Clinical trialTMPRSS6
Miscellaneous
canSAR (ICR)TMPRSS6 (select the gene name)
Probes
Litterature
PubMed80 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMPRSS6
EVEXTMPRSS6
GoPubMedTMPRSS6
iHOPTMPRSS6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:54:05 CET 2016

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.