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TMPRSS6 Gene

protein-coding   GIFtS: 59
GCID: GC22M037461

Transmembrane Protease, Serine 6

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Transmembrane Protease, Serine 61 2     Type II Transmembrane Serine Protease 62
IRIDA2 5     EC 3.4.21.-3
matriptase-22     Matriptase-23
Membrane-Bound Mosaic Serine Proteinase Matriptase-22     EC 3.4.218
Transmembrane Protease Serine 62     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TMPRSS6 Gene:
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. Alternative splicing
results in multiple transcript variants. (provided by RefSeq, Jan 2014)

GeneCards Summary for TMPRSS6 Gene:
TMPRSS6 (transmembrane protease, serine 6) is a protein-coding gene. Diseases associated with TMPRSS6 include deficiency anemia, and iron deficiency anemia. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is TMPRSS11D.

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 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000022.11  NT_011520.13  NC_018933.2  
Regulatory elements:
   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 Chromatin IP Primers for TMPRSS6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
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

Explore proteomics data for TMPRSS6 at MOPED

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
  • Glycosylation2 at Asn127, Asn175, Asn207, Asn329, Asn424, Asn444, Asn509
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for TMPRSS6 (Q8IU80) (see all 5)
     GDSGGPL  SGGPLVC  CQGDSGGP  TPRMLCAG 


    See TMPRSS6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001275929.1  NP_001275930.1  NP_705837.1  

    ENSEMBL proteins: 
     ENSP00000334962   ENSP00000385453   ENSP00000384964   ENSP00000392433   ENSP00000397691  
     ENSP00000400317   ENSP00000371211  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TMPRSS: Serine peptidases / Transmembrane

    Selected InterPro protein domains (see all 8):
     IPR000859 CUB_dom
     IPR002172 LDrepeatLR_classA_rpt
     IPR001314 Peptidase_S1A
     IPR000082 SEA_dom
     IPR009003 Trypsin-like_Pept_dom

    Graphical View of Domain Structure for InterPro Entry Q8IU80

    ProtoNet protein and cluster: Q8IU80

    4 Blocks protein domains:
    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
    Similarity: Contains 1 SEA domain


    TMPRSS6 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity IDA12149247
    GO:0005515protein binding IPI19357398
         
    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/body  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 
     other  reproductive system 

    TMPRSS6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TMPRSS6: Tmprss6tm1Otin Tmprss6tm1Dgen

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TMPRSS6
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TMPRSS6

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    miRTarBase miRNAs that target TMPRSS6:
    hsa-mir-26b-5p (MIRT030016)

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    1 qRT-PCR Assays for microRNA that regulate TMPRSS6:
    hsa-miR-765
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    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TMPS6_HUMAN, Q8IU80: Cell membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol1
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IDA19357398
    GO:0016021integral component of membrane IDA12149247

    TMPRSS6 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TMPRSS6
    Interactions:

        Search GeneGlobe Interaction Network 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): Selected biological process terms (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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TMPRSS6 (TMPS6)

    1 HMDB Compound for TMPRSS6    About this table
    CompoundSynonyms CAS #PubMed Ids
    IronArmco iron (see all 19)7439-89-6--

    2 Novoseek inferred 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)



    TMPRSS6 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TMPRSS6 gene (3 alternative transcripts): 
    NM_001289000.1  NM_001289001.1  NM_153609.3  

    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 qRT-PCR Assays for microRNA that regulate TMPRSS6:
    hsa-miR-765
    SwitchGear 3'UTR luciferase reporter plasmidTMPRSS6 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat TMPRSS6

    Additional mRNA 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:

    AW168025 NM_153609 AW295507 AY358398 AW183485 AY055384 CR456446 AW205177 
    AW182309 NM_153019 AV693114 AJ319876 BC039082 T68884 T68957 BE218064 
    BF379292 AA609066 AV697553 CB054579 BI832330 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TMPRSS6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGTGTGCCG
    TMPRSS6 Expression
    About this image

    TMPRSS6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TMPRSS6 Protein Expression

    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for TMPRSS6 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmprss61 , 5 transmembrane serine protease 61, 5 83.83(n)1
    84.21(a)1
      15 (37.49 cM)5
    717531  NM_027902.21  NP_082178.21 
     784396685 
    chicken
    (Gallus gallus)
    Aves TMPRSS61 transmembrane protease, serine 6 71.36(n)
    70.23(a)
      418046  XM_004937766.1  XP_004937823.1 
    lizard
    (Anolis carolinensis)
    Reptilia TMPRSS66
    transmembrane protease, serine 6
    56(a)
    1 ↔ 1
    5(22716361-22751740)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tmprss61 transmembrane protease, serine 6 59.35(n)
    56.91(a)
      100489045  XM_002934238.2  XP_002934284.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tmprss156
    transmembrane protease, serine 15
    18(a)
    many ↔ many
    21(33957894-34006233) ENSDARG00000079393


    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)
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    Paralogs for TMPRSS6 gene
    TMPRSS11D2  TMPRSS32  TMPRSS11B2  TMPRSS11A2  TMPRSS72  TMPRSS52  TMPRSS42  ST142  
    TMPRSS132  TMPRSS11E2  TMPRSS22  KLKB12  F112  HPN2  TMPRSS152  TMPRSS11F2  
    Selected 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, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TMPRSS6 (see all 1261)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1378531201,2,,4
    CIron-refractory iron deficiency anemia (IRIDA)4 pathogenic120434820(-) GCAGCA/GACGAA 2 N D mis10--------
    VAR_0686684
    Iron-refractory iron deficiency anemia (IRIDA)4--see VAR_0686682 L P mis40--------
    VAR_0640784
    Iron-refractory iron deficiency anemia (IRIDA)4--see VAR_0640782 S L mis40--------
    VAR_0686714
    Iron-refractory iron deficiency anemia (IRIDA)4--see VAR_0686712 E K mis40--------
    VAR_0686654
    Iron-refractory iron deficiency anemia (IRIDA)4--see VAR_0686652 E K mis40--------
    VAR_0686744
    Iron-refractory iron deficiency anemia (IRIDA)4--see VAR_0686742 P A mis40--------
    VAR_0686664
    Iron-refractory iron deficiency anemia (IRIDA)4--see VAR_0686662 A D mis40--------
    VAR_0640794
    Iron-refractory iron deficiency anemia (IRIDA)4--see VAR_0640792 C S mis40--------
    VAR_0444374
    Iron-refractory iron deficiency anemia (IRIDA)4--see VAR_0444372 R C mis40--------
    VAR_0362964
    A breast cancer sample4--see VAR_0362962 R H mis40--------

    HapMap Linkage Disequilibrium report for TMPRSS6 (37461476 - 37505603 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for TMPRSS6:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2724207CNV Deletion23290073
    esv34015CNV Loss18971310
    dgv4960n71CNV Loss21882294
    nsv829203CNV Loss20364138
    nsv915016CNV Loss21882294
    nsv834187CNV Loss17160897
    esv24599CNV Loss19812545
    nsv915015CNV Loss21882294
    nsv459882CNV Gain19166990

    Human Gene Mutation Database (HGMD): TMPRSS6
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TMPRSS6
    DNA2.0 Custom Variant and Variant Library Synthesis for TMPRSS6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609862   
    OMIM disorders: 206200  
    UniProtKB/Swiss-Prot: TMPS6_HUMAN, Q8IU80
  • Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]: 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=The disease is caused by
    mutations affecting the gene represented in this entry. 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)

  • 18 diseases for TMPRSS6:    
    About MalaCards
    deficiency anemia    iron deficiency anemia    iron-refractory iron deficiency anemia    hypochromic microcytic anemia
    microcytic anemia    hemochromatosis    hypoxia    fatty liver disease
    breast and colorectal cancer    liver disease    breast cancer    parkinson's disease
    prostate cancer    prostatitis    multiple myeloma    myeloma
    colorectal cancer    hepatitis

    3 diseases from the University of Copenhagen DISEASES database for TMPRSS6:
    Nutrition disease     Anemia     Hemochromatosis

    TMPRSS6 for disorders           About GeneDecksing

    3 Novoseek inferred 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)

    Genetic Association Database (GAD): TMPRSS6
    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)
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    PubMed articles for TMPRSS6 gene, integrated from 10 sources (see all 80):
    (articles sorted by number of sources associating them with TMPRSS6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia. (PubMed id 19818657)1, 2, 4 Beutler E....Lee P.L. (Blood Cells Mol. Dis. 2010)
    2. Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). (PubMed id 18408718)1, 2, 4 Finberg K.E.... Fleming M.D. (Nat. Genet. 2008)
    3. Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms. (PubMed id 19592582)1, 2, 9 Ramsay A.J.... Lopez-Otin C. (Hum. Mol. Genet. 2009)
    4. 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. (J. Biol. Chem. 2002)
    5. 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. (Haematologica 2008)
    6. Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia. (PubMed id 19357398)1, 2, 9 Silvestri L....Grandchamp B. (Blood 2009)
    7. Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia. (PubMed id 19708871)1, 2, 9 Tchou I....Beris P. (Eur. J. Haematol. 2009)
    8. 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. (Front. Biosci. 2008)
    9. Refinement of the 22q12-q13 breast cancer--associated region: evidence of TMPRSS6 as a candidate gene in an eastern Finnish population. (PubMed id 16533768)1, 4, 9 Hartikainen J.M....Mannermaa A. (Clin. Cancer Res. 2006)
    10. Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA). (PubMed id 20232450)1, 2, 9 De Falco L.... Iolascon A. (Hum. Mutat. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 164656 HGNC: 16517 AceView: TMPRSS6 Ensembl:ENSG00000187045 euGenes: HUgn164656
    ECgene: TMPRSS6 H-InvDB: TMPRSS6

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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.)
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    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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