Property Summary

NCBI Gene PubMed Count 84
Grant Count 25
R01 Count 15
Funding $3,231,544.08
PubMed Score 118.15
PubTator Score 129.08

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
osteosarcoma 1.840 0.000
medulloblastoma, large-cell 1.200 0.004
adult high grade glioma 1.200 0.001
pituitary cancer 1.300 0.017
psoriasis -2.800 0.000

Gene RIF (71)

PMID Text
26405152 Combination of Tmprss6- ASO and the iron chelator deferiprone improves erythropoiesis and reduces iron overload in a mouse model of beta-thalassemia intermedia.
26385264 Data show that p.V736A TMPRSS6 variant (rs855791) influences the susceptibility to hepatic iron accumulation in NTDT patients, and the risk allele is 736(A).
26171609 N-glycan branching regulates HAI-2 through different subcellular distribution and subsequently access to different target proteases
25873000 A novel splicing mutation of TMPRSS6 exon 9 (c.1113G>A) was found in an iron-refractory iron deficiency anemia patient and his father.
25809685 genetic association studies in a population of black women in South Africa: Data suggest that SNPs in TMPRSS6 (rs228918; rs228921) are associated with iron status/iron-deficiency anemia in the population studied.
25704252 Data show that transmembrane serine protease TMPRSS6 cleaves both the heterodimeric and the full-length mutant hemojuvelin (m-HJV).
25588876 Certain domains of matriptase-2 are important for trafficking to the cell surface and are required for cleavage of hemojuvelin.
25567183 genetic variation in TMPRSS6 is higher in celiac disease patients than in controls.
25557470 TMPRSS6 polymorphisms could play a role in iron homeostasis and the response to oral iron supplementation.
25156943 We confirm that TMPRSS6 mutations are spread along the gene and that mechanistically they fully or partially abrogate hepcidin inhibition.
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AA Sequence

MLLLFHSKRMPVAEAPQVAGGQGDGGDGEEAEPEGMFKACEDSKRKARGYLRLVPLFVLLALLVLASAGV      1 - 70
LLWYFLGYKAEVMVSQVYSGSLRVLNRHFSQDLTRRESSAFRSETAKAQKMLKELITSTRLGTYYNSSSV     71 - 140
YSFGEGPLTCFFWFILQIPEHRRLMLSPEVVQALLVEELLSTVNSSAAVPYRAEYEVDPEGLVILEASVK    141 - 210
DIAALNSTLGCYRYSYVGQGQVLRLKGPDHLASSCLWHLQGPKDLMLKLRLEWTLAECRDRLAMYDVAGP    211 - 280
LEKRLITSVYGCSRQEPVVEVLASGAIMAVVWKKGLHSYYDPFVLSVQPVVFQACEVNLTLDNRLDSQGV    281 - 350
LSTPYFPSYYSPQTHCSWHLTVPSLDYGLALWFDAYALRRQKYDLPCTQGQWTIQNRRLCGLRILQPYAE    351 - 420
RIPVVATAGITINFTSQISLTGPGVRVHYGLYNQSDPCPGEFLCSVNGLCVPACDGVKDCPNGLDERNCV    421 - 490
CRATFQCKEDSTCISLPKVCDGQPDCLNGSDEEQCQEGVPCGTFTFQCEDRSCVKKPNPQCDGRPDCRDG    491 - 560
SDEEHCDCGLQGPSSRIVGGAVSSEGEWPWQASLQVRGRHICGGALIADRWVITAAHCFQEDSMASTVLW    561 - 630
TVFLGKVWQNSRWPGEVSFKVSRLLLHPYHEEDSHDYDVALLQLDHPVVRSAAVRPVCLPARSHFFEPGL    631 - 700
HCWITGWGALREGGPISNALQKVDVQLIPQDLCSEVYRYQVTPRMLCAGYRKGKKDACQGDSGGPLVCKA    701 - 770
LSGRWFLAGLVSWGLGCGRPNYFGVYTRITGVISWIQQVVT                                 771 - 811
//

Text Mined References (88)

PMID Year Title
26405152 2016 Combination of Tmprss6- ASO and the iron chelator deferiprone improves erythropoiesis and reduces iron overload in a mouse model of beta-thalassemia intermedia.
26385264 2015 The V736A TMPRSS6 polymorphism influences liver iron concentration in nontransfusion-dependent thalassemias.
26171609 2015 N-Glycan Branching Affects the Subcellular Distribution of and Inhibition of Matriptase by HAI-2/Placental Bikunin.
25873000 2015 A novel splicing mutation of TMPRSS6 in a Chinese child with iron-refractory iron deficiency anaemia.
25809685 2015 Common Variants and Haplotypes in the TF, TNF-?, and TMPRSS6 Genes Are Associated with Iron Status in a Female Black South African Population.
25704252 2015 Identification of TMPRSS6 cleavage sites of hemojuvelin.
25588876 2015 Functional analysis of matriptase-2 mutations and domains: insights into the molecular basis of iron-refractory iron deficiency anemia.
25567183 2015 Does TMPRSS6 RS855791 polymorphism contribute to iron deficiency in treated celiac disease?
25557470 2015 The role of TMPRSS6 polymorphisms in iron deficiency anemia partially responsive to oral iron treatment.
25352340 2014 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
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