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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TMPRSS6
transmembrane serine protease 6
Chromosome 22 Β· 22q12.3
NCBI Gene: 164656Ensembl: ENSG00000187045.20HGNC: HGNC:16517UniProt: Q8IU80
133PubMed Papers
21Diseases
1Drugs
36Pathogenic Variants
FUNCTIONAL ROLE
Protease
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
self proteolysisGO:0005615protein bindingmembrane protein proteolysisIRIDA syndromemicrocytic anemiaIron deficiency anemiaanemia (phenotype)
✦AI Summary

TMPRSS6 encodes matriptase-2, a membrane-bound serine protease highly expressed in the liver that plays a critical role in iron homeostasis 1. The primary function of TMPRSS6 is to negatively regulate hepcidin expression, the master systemic iron-regulatory hormone 21. TMPRSS6 accomplishes this through proteolytic cleavage of hemojuvelin (HJV), a cell surface regulator of hepcidin expression, thereby promoting iron absorption 2. Loss-of-function mutations in TMPRSS6 impair this negative regulation, causing excessive hepcidin production that restricts iron absorption and leads to iron-refractory iron deficiency anemia (IRIDA), a rare hereditary microcytic anemia characterized by resistance to oral iron supplementation 13. IRIDA patients typically require intravenous iron therapy, though responses vary 3. Beyond iron metabolism, TMPRSS6 variants have been associated with myocardial and multi-organ interstitial fibrosis in large population studies, suggesting broader physiological roles 45. Understanding TMPRSS6 biology has enabled development of targeted therapeutic approaches for iron homeostasis disorders 1. Notably, a recent meta-analysis found no significant association between the common TMPRSS6 rs855791 polymorphism and anemia risk, highlighting the complexity of genetic contributions to iron deficiency 6.

Sources cited
1
TMPRSS6 is a serine protease highly expressed in the liver that negatively regulates hepcidin expression; mutations in TMPRSS6 cause iron-refractory iron deficiency anemia
PMID: 36690839
2
TMPRSS6 functions as a hepcidin inhibitor; mutations in TMPRSS6 upregulate the BMP-SMAD pathway in iron-refractory iron-deficiency anemia
PMID: 31949017
3
IRIDA is caused by pathogenic variants in TMPRSS6 gene resulting in elevated plasma hepcidin levels and resistance to oral iron supplementation
PMID: 39985323
4
TMPRSS6 variants are associated with myocardial interstitial fibrosis in large-scale genome-wide association analysis
PMID: 37081215
5
TMPRSS6 is implicated in metal ion transport and is associated with fibrosis across multiple organs
PMID: 38806679
6
Meta-analysis found no significant association between TMPRSS6 rs855791 polymorphism and anemia
PMID: 40081160
Disease Associationsβ“˜21
IRIDA syndromeOpen Targets
0.85Strong
microcytic anemiaOpen Targets
0.52Moderate
Iron deficiency anemiaOpen Targets
0.49Moderate
anemia (phenotype)Open Targets
0.40Weak
neurodegenerative diseaseOpen Targets
0.32Weak
anemiaOpen Targets
0.30Weak
oral mucosa leukoplakiaOpen Targets
0.29Weak
spontaneous abortionOpen Targets
0.27Weak
Abnormality of metabolism/homeostasisOpen Targets
0.27Weak
iron metabolism diseaseOpen Targets
0.25Weak
polycythemiaOpen Targets
0.23Weak
hematologic diseaseOpen Targets
0.20Weak
inborn carbohydrate metabolic disorderOpen Targets
0.20Weak
intestinal disaccharide deficiency and disaccharide malabsorptionOpen Targets
0.19Weak
genetic disorderOpen Targets
0.19Weak
atopic eczemaOpen Targets
0.17Weak
ovarian neoplasmOpen Targets
0.13Weak
polycythemia veraOpen Targets
0.10Weak
Blackfan-Diamond anemiaOpen Targets
0.10Weak
Beta-thalassemiaOpen Targets
0.10Suggestive
Iron-refractory iron deficiency anemiaUniProt
Pathogenic Variants36
NM_001374504.1(TMPRSS6):c.1768C>T (p.Arg590Ter)Pathogenic
Microcytic anemia|Iron-refractory iron deficiency anemia|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 590
NM_001374504.1(TMPRSS6):c.1655C>A (p.Ser552Ter)Pathogenic
not provided|Iron-refractory iron deficiency anemia
β˜…β˜…β˜†β˜†2025β†’ Residue 552
NM_001374504.1(TMPRSS6):c.1038C>A (p.Tyr346Ter)Likely pathogenic
Iron-refractory iron deficiency anemia|not provided|TMPRSS6-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 346
NM_001374504.1(TMPRSS6):c.1342+1G>APathogenic
not provided|Iron-refractory iron deficiency anemia
β˜…β˜…β˜†β˜†2025
NM_001374504.1(TMPRSS6):c.1984del (p.Leu662fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 662
NM_001374504.1(TMPRSS6):c.1297G>A (p.Gly433Arg)Pathogenic
Iron-refractory iron deficiency anemia|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 433
NM_001374504.1(TMPRSS6):c.1534G>A (p.Asp512Asn)Likely pathogenic
Microcytic anemia|Iron-refractory iron deficiency anemia|TMPRSS6-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 512
NM_001374504.1(TMPRSS6):c.1687_1697del (p.Gly563fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 563
NM_001374504.1(TMPRSS6):c.930C>G (p.Tyr310Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 310
NM_001374504.1(TMPRSS6):c.470del (p.Leu157fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 157
NM_001374504.1(TMPRSS6):c.208A>T (p.Lys70Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 70
NM_001374504.1(TMPRSS6):c.355_361del (p.Ser119fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 119
NM_001374504.1(TMPRSS6):c.2062G>T (p.Glu688Ter)Likely pathogenic
Iron-refractory iron deficiency anemia
β˜…β˜†β˜†β˜†2024β†’ Residue 688
NM_001374504.1(TMPRSS6):c.1442-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001374504.1(TMPRSS6):c.2074_2081dup (p.Trp694fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 694
GRCh38/hg38 22q12.3(chr22:37098319-37127846)x1Pathogenic
Iron-refractory iron deficiency anemia
β˜…β˜†β˜†β˜†2023
NM_001374504.1(TMPRSS6):c.1355del (p.Glu452fs)Likely pathogenic
Iron-refractory iron deficiency anemia
β˜…β˜†β˜†β˜†2023β†’ Residue 452
NM_001374504.1(TMPRSS6):c.1055C>A (p.Ser352Ter)Pathogenic
Iron-refractory iron deficiency anemia
β˜…β˜†β˜†β˜†2023β†’ Residue 352
NM_001374504.1(TMPRSS6):c.909G>A (p.Trp303Ter)Likely pathogenic
TMPRSS6-related disorder
β˜…β˜†β˜†β˜†2022β†’ Residue 303
NM_001374504.1(TMPRSS6):c.2407T>G (p.Ter803Gly)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 803
View on ClinVar β†—
Drug Targets1
SAPABLURSENPhase II
Transmembrane protease serine 6 mRNA antisense inhibitor
Beta-thalassemia
Related Genes
BMP6Protein interaction89%HFEProtein interaction89%NEO1Protein interaction89%TFR2Protein interaction89%TFRCProtein interaction73%HAMPProtein interaction73%
Tissue Expression6 tissues
Liver
100%
Brain
9%
Bone Marrow
0%
Lung
0%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
TMPRSS6BMP6HFENEO1TFR2TFRCHAMP
PROTEIN STRUCTURE
Preparing viewer…
PDB9NRC Β· 3.29 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.82LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.66 [0.54–0.82]
RankingsWhere TMPRSS6 stands among ~20K protein-coding genes
  • #3,502of 20,598
    Most Researched133 Β· top quartile
  • #1,646of 5,498
    Most Pathogenic Variants36
  • #6,960of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedTMPRSS6
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Iron Deficiency Anemia.
PMID: 28189173
Med Clin North Am Β· 2017
1.00
2
Iron metabolism and iron disorders revisited in the hepcidin era.
PMID: 31949017
Haematologica Β· 2020
0.90
3
Genetics of myocardial interstitial fibrosis in the human heart and association with disease.
PMID: 37081215
Nat Genet Β· 2023
0.80
4
Lack of association between the TMPRSS6 gene polymorphism (rs855791) and anemia: a comprehensive meta-analysis.
PMID: 40081160
Hematol Transfus Cell Ther Β· 2025
0.70
5
TMPRSS6 as a Therapeutic Target for Disorders of Erythropoiesis and Iron Homeostasis.
PMID: 36690839
Adv Ther Β· 2023
0.60