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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TMPRSS6 Gene

protein-coding   GIFtS: 56
GCID: GC22M037461

transmembrane protease, serine 6

 Explore 11 diseases affiliated with
TMPRSS6 via our new
 Human Malady Compendium 
Biological research products
for TMPRSS6
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Transmembrane Protease, Serine 61 2     Transmembrane Protease Serine 62
IRIDA2 5     Type II Transmembrane Serine Protease 62
FLJ307441     EC 3.4.21.-3
Matriptase-23     Matriptase-23
Membrane-Bound Mosaic Serine Proteinase Matriptase-22     EC 3.4.218

External Ids:    HGNC: 165171   Entrez Gene: 1646562   Ensembl: ENSG000001870457   OMIM: 6098625   UniProtKB: Q8IU803   

Export aliases for TMPRSS6 gene to outside databases

Previous GC identifers: GC22M034080 GC22P035703 GC22M035705 GC22M035706 GC22M035785 GC22M020426


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TMPRSS6:
The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell
surface. The encoded protein may be involved in matrix remodeling processes in the liver. (provided by RefSeq, Jul
2008)

UniProtKB/Swiss-Prot: TMPS6_HUMAN, Q8IU80
Function: Serine protease which hydrolyzes a range of proteins including type I collagen, fibronectin and fibrinogen.
Can also activate urokinase-type plasminogen activator with low efficiency. May play a specialized role in matrix
remodeling processes in liver. Plays a role in the regulation of iron homeostasis, a process involving HAMP. Required
to sense iron deficiency and suppress activation of the HAMP promoter

Gene Wiki entry for TMPRSS6


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.1  NT_011520.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TMPRSS6 gene promoter:
         AP-1   GCNF-1   GCNF   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMPRSS6 promoter sequence
   Search SABiosciences Chromatin IP Primers for TMPRSS6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMPRSS6


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q12.3   Ensembl cytogenetic band:  22q12.3   HGNC cytogenetic band: 22q13.1

TMPRSS6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMPRSS6 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M037461:  view genomic region     (about GC identifiers)

Start:
37,461,476 bp from pter      End:
37,505,603 bp from pter
Size:
44,128 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TMPS6_HUMAN, Q8IU80 (See protein sequence)
Recommended Name: Transmembrane protease serine 6  
Size: 811 amino acids; 90000 Da
Subunit: Interacts with HFE2
Subcellular location: Cell membrane; Single-pass type II membrane protein
Secondary accessions: B0QYB4 B0QYB7 B0QYB8 Q5TI06 Q6ICC2 Q6UXD8 Q8IUE2 Q8IXV8
Alternative splicing: 4 isoforms:  Q8IU80-4   Q8IU80-1   Q8IU80-2   Q8IU80-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TMPRSS6: NX_Q8IU80

Post-translational modifications:

  • The single-chain zymogen undergoes proteolytic processing. This results in TMPRSS6 shedding from the cell surface and
  • conversion into an activated two-chains form. The process involves a trans-activation mechanism that requires TMPRSS6
    oligomerization1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IU80

  • 4/5 DME Specific Peptides for TMPRSS6 (Q8IU80) (see all 5)
     GDSGGPL  SGGPLVC  CQGDSGGP  TPRMLCAG 

    TMPRSS6 Protein expression data from MOPED and PaxDb:    About this image 
    TMPRSS6 Protein Expression
    REFSEQ proteins: NP_705837.1  
    ENSEMBL proteins: 
     ENSP00000334962   ENSP00000385453   ENSP00000384964   ENSP00000392433   ENSP00000397691  
     ENSP00000400317   ENSP00000371211  

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    Uscn Proteins for TMPRSS6

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005886plasma membrane IDA19357398
    GO:0016021integral to membrane IDA12149247

    TMPRSS6 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for TMPRSS6


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TMPRSS6 for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR000859 CUB_dom
     IPR002172 LDrepeatLR_classA_rpt
     IPR001314 Peptidase_S1A
     IPR000082 SEA
     IPR009003 Trypsin-like_Pept_dom

    Graphical View of Domain Structure for InterPro Entry Q8IU80

    ProtoNet protein and cluster: Q8IU80

    4 Blocks protein families:
    IPB000859 CUB domain
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature
    IPB002172 Low density lipoprotein-receptor


    UniProtKB/Swiss-Prot: TMPS6_HUMAN, Q8IU80
    Domain: Cytoplasmic domain mediates HAMP suppression via proximal promoter element(s) (By similarity)
    Similarity: Belongs to the peptidase S1 family
    Similarity: Contains 2 CUB domains
    Similarity: Contains 3 LDL-receptor class A domains
    Similarity: Contains 1 peptidase S1 domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TMPS6_HUMAN, Q8IU80
    Function: Serine protease which hydrolyzes a range of proteins including type I collagen, fibronectin and fibrinogen.
    Can also activate urokinase-type plasminogen activator with low efficiency. May play a specialized role in matrix
    remodeling processes in liver. Plays a role in the regulation of iron homeostasis, a process involving HAMP. Required
    to sense iron deficiency and suppress activation of the HAMP promoter

         Enzyme Numbers (IUBMB): EC 3.4.212 EC 3.4.21.-1

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004252serine-type endopeptidase activity IDA12149247
    GO:0005515protein binding IPI19357398
    GO:0008233peptidase activity ----
         
    TMPRSS6 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TMPRSS6:
     Synthetic lethal with Ras 

         12 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Tmprss6):
     cardiovascular system  digestive/alimentary  endocrine/exocrine gland  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 
     other  reproductive system 

    TMPRSS6 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-outs for TMPRSS6: Tmprss6tm1Otin Tmprss6tm1Dgen
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TMPRSS6 

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    1 QIAGEN miScript miRNA Assays for microRNA that regulate TMPRSS6:
    hsa-miR-765
    SwitchGear 3'UTR luciferase reporter plasmidTMPRSS6 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMPRSS6


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMPRSS6

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for TMPRSS6 (Q8IU803 ENSP000003349624) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COL1A1P024523, ENSP000002259644I2D: score=2 STRING: ENSP00000225964
    FN1P027513, ENSP000003468394I2D: score=2 STRING: ENSP00000346839
    LAMA1P253913, ENSP000003743094I2D: score=1 STRING: ENSP00000374309
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis NAS12149247
    GO:0006508proteolysis IDA12149247
    GO:0030198extracellular matrix organization NAS12149247
    GO:0035556intracellular signal transduction NAS12149247
    GO:0042730fibrinolysis IDA12149247

    TMPRSS6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TMPRSS6 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TMPRSS6

    1 HMDB Compound for TMPRSS6    About this table
    CompoundSynonyms CAS #PubMed Ids
    IronArmco iron (see all 19)7439-89-6--
    2 Novoseek chemical compound relationships for TMPRSS6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 67.4 28 12149247 (4), 18976966 (3), 20015002 (2), 19377077 (2) (see all 16)
    iron 31.7 9 19377077 (4), 18976966 (3), 18603562 (2), 18590684 (1) (see all 10)

    Search CenterWatch for drugs/clinical trials and news about TMPRSS6 / TMPS6 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TMPRSS6 gene: 
    NM_153609.2  

    Unigene Cluster for TMPRSS6:

    Transmembrane protease, serine 6
    Hs.370885  [show with all ESTs]
    Unigene Representative Sequence: NM_153609
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000346753(uc003aqs.1) ENST00000406725 ENST00000406856(uc003aqt.1)
    ENST00000429068 ENST00000442782(uc003aqu.3) ENST00000423761 ENST00000381792


    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate TMPRSS6:
    hsa-miR-765
    SwitchGear 3'UTR luciferase reporter plasmidTMPRSS6 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AJ319876.1 AY055384.1 AY358398.1 BC039082.1 BX538007.1 CR456446.1 

    6 DOTS entries:

    DT.40192033  DT.101960030  DT.100678217  DT.120671204  DT.95203999  DT.75113030 

    22 AceView cDNA sequences:

    NM_153609 AY358398 AW183485 AW168025 AY055384 AW295507 CR456446 BC039082 
    AW205177 AJ319876 NM_153019 AW182309 AV693114 BI832330 T68957 BE218064 
    AA609066 CB054579 BF379292 AV697553 T68884 AI912086 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for TMPRSS6    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
    SP1:                                                                  
    SP2:                                                                  


    ECgene alternative splicing isoforms for TMPRSS6

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TMPRSS6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTGTGTGCCG
    TMPRSS6 Expression
    About this image
    See TMPRSS6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TMPRSS6

    SOURCE GeneReport for Unigene cluster: Hs.370885

    UniProtKB/Swiss-Prot: TMPS6_HUMAN, Q8IU80
    Tissue specificity: Liver specific

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TMPRSS6 gene from 4/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves TMPRSS61 transmembrane protease, serine 6 70.2(n)
    68.2(a)
      418046  XM_416281.3  XP_416281.3 
    lizard
    (Anolis carolinensis)
    Reptilia TMPRSS66
    --
    71(a)
    1 ↔ 1
    5(22716355-22747438)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1120386
    zgc:1232956
    (see all 8)
    zgc:123295
    (see all 8)
    32(a)
    31(a)
    (see all 8)
    possible ortholog
    possible ortholog
    (see all 8)
    3(21413824-21431194)
    3(21402827-21411805)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG16326
    --
    7(a)
    possible ortholog
    X(8146705-8166495)


    ENSEMBL Gene Tree for TMPRSS6 (if available)
    TreeFam Gene Tree for TMPRSS6 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TMPRSS6 gene
    TMPRSS72  TMPRSS52  ST142  TMPRSS42  TMPRSS11D2  TMPRSS132  TMPRSS11E2  TMPRSS32  
    TMPRSS11B2  TMPRSS22  TMPRSS92  HPN2  TMPRSS152  TMPRSS11F2  TMPRSS11A2  
    18/34 SIMAP similar genes for TMPRSS6 using alignment to 3 protein entries:     TMPS6_HUMAN (see all proteins) (see all similar genes):
    PRSS22    PRSS27    KLK3    PRSS48    TMPRSS12    TMPRSS7
    KLK4    KLK7    PRSS2    TRY8    KLK13    CTRB2
    ELANE    KLK1    KLK9    PRSS3    TPSAB1    TPSB2

    TMPRSS6 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/966 NCBI SNPs in TMPRSS6 are shown (see all 966    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1378531201,2
    Cpathogenic20434820(-) GCAGCA/GACGAA 2 N D mis10--------
    rs1378531211,2
    Cpathogenic20446004(-) CCGTAA/CTTCCC 2 * Y stg10--------
    rs738869141,2
    C--20426248(+) TGGCCC/ACAGCA 1 -- ds50012Minor allele frequency- A:0.03WA 120
    rs121601891,2
    C,H--20426407(+) CTATGA/GGGATG 1 -- ds50014Minor allele frequency- G:0.00NS EA 420
    rs104279411,2
    C,H--20426475(+) CTCCTC/TACATC 1 -- ds50014Minor allele frequency- T:0.00NS EA 414
    rs60005491,2
    C,F,H--20426936(+) CTTCCG/AAAGCT 1 -- ut319Minor allele frequency- A:0.01NS EA NA 1154
    rs2006964991,2
    C--20426996(-) GGTGCA/GCCCCA 1 -- ut310--------
    rs2002033011,2
    C--20427058(+) CTTGCA/GTTAGG 1 -- ut310--------
    rs117030111,2
    C,F,H--20427495(+) GACCAC/TCTGAG 2 D G mis1 ese38Minor allele frequency- T:0.01NS EA NA 822
    rs738869171,2
    C--20427585(+) TAAGTC/GCTGAC 1 -- int12Minor allele frequency- G:0.04WA 120

    HapMap Linkage Disequilibrium report for TMPRSS6 (37461476 - 37505603 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for TMPRSS6
         1 CNV: 47855
         1 Indel: 73821
    Human Gene Mutation Database (HGMD): TMPRSS6

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TMPRSS6 for disorders           About GeneDecksing

    OMIM gene information: 609862   
    OMIM disorders: 206200  
    UniProtKB/Swiss-Prot: TMPS6_HUMAN, Q8IU80
  • Defects in TMPRSS6 are the cause of iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]; also known as
  • hypochromic microcytic anemia with defect in iron metabolism or hereditary iron-handling disorder or
    pseudo-iron-deficiency anemia. Key features include congenital hypochromic microcytic anemia, very low mean
    corpuscular erythrocyte volume, low transferrin saturation, abnormal iron absorption characterized by no hematologic
    improvement following treatment with oral iron, and abnormal iron utilization characterized by a sluggish, incomplete
    response to parenteral iron. Note=Mutations leading to abrogation of TMPRSS6 activity are associated with IRIDA due to
    elevated levels of hepcidin, a negative regulator of plasma iron pool (PubMed:20232450)

    11 diseases for TMPRSS6:    About MalaCards
    iron-refractory iron deficiency anemia    iron deficiency anemia    hypochromic microcytic anemia    microcytic anemia
    iron overload    anemia    hemochromatosis    breast cancer
    prostate cancer    hypoxia    prostatitis

    3 diseases from the University of Copenhagen DISEASES database for TMPRSS6:
    Iron deficiency anemia     Hypochromic microcytic anemia     Hemochromatosis

    3 Novoseek disease relationships for TMPRSS6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iron deficiency anemia 72.8 3 19357398 (2), 19592582 (1), 18603562 (1)
    breast cancer 0 12 17575220 (6), 16533768 (3)
    tumors 0 2 17575220 (2)

    Human Genome Epidemiology (HuGE) Navigator: TMPRSS6 (11 documents)

    Export disorders for TMPRSS6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TMPRSS6 gene, integrated from 9 sources (see all 66):
    (articles sorted by number of sources associating them with TMPRSS6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Matriptase-2 mutations in iron-refractory iron defici ency anemia patients provide new insights into protease activation mechanisms. (PubMed id 19592582)1, 2, 9 Ramsay A.J....LA^pez-OtA-n C. (2009)
    2. Matriptase-2, a membrane-bound mosaic serine proteinase predominantly expressed in human liver and showing degrading activity against extracellular matrix proteins. (PubMed id 12149247)1, 2, 9 Velasco G.... Lopez-Otin C. (2002)
    3. A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron. (PubMed id 18603562)1, 2, 9 Melis M.A....Galanello R. (2008)
    4. Molecular mechanisms of the defective hepcidin inhibi tion in TMPRSS6 mutations associated with iron-refractory iron deficiency anemi a. (PubMed id 19357398)1, 2, 9 Silvestri L....Grandchamp B. (2009)
    5. Haematologic data, iron parameters and molecular find ings in two new cases of iron-refractory iron deficiency anaemia. (PubMed id 19708871)1, 2, 9 Tchou I....Beris P. (2009)
    6. The type II transmembrane serine protease matriptase-2 -- identification, structural features, enzymology, expression pattern and potential roles. (PubMed id 17981570)1, 2, 9 Ramsay A.J.... Hooper J.D. (2008)
    7. Novel TMPRSS6 mutations associated with iron-refracto ry iron deficiency anemia (IRIDA). (PubMed id 20232450)1, 2, 9 De Falco L....Iolascon A. (2010)
    8. A novel mutation Gly603Arg of TMPRSS6 in a Korean fema le with iron-refractory iron deficiency anemia. (PubMed id 21618415)1, 2 Choi H.S....Kim H.J. (2012)
    9. Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity. (PubMed id 22581667)1, 2 Guillem F.... Nicolas G. (2012)
    10. Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia. (PubMed id 19818657)1, 2 Beutler E....Lee P.L. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 164656 HGNC: 16517 AceView: TMPRSS6 Ensembl:ENSG00000187045 euGenes: HUgn164656
    ECgene: TMPRSS6 H-InvDB: TMPRSS6

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TMPRSS6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TMPRSS6 gene:
    Search GeneIP for patents involving TMPRSS6

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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