TMPRSS6 - transmembrane serine protease 6 Gene

Also Known as MT2; IRIDA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 164656

About TMPRSS6

Cytogenetic location: 22q12.3 Genomic coordinates (GRCh38): 22:37,065,436-37,110,536 (from NCBI)

This gene has 8 transcripts (splice variants), 201 orthologues, 17 paralogues and is associated with 3 phenotypes. Biased expression in liver (RPKM 19.4), stomach (RPKM 1.7) and 1 other tissue.

Summary

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]

TMPRSS6 Products (4)

mRNA	Protein	Name
NM_001289000.2	NP_001275929.1	transmembrane protease serine 6 isoform 1
NM_001289001.2	NP_001275930.1	transmembrane protease serine 6 isoform 3
NM_001374504.1	NP_001361433.1	transmembrane protease serine 6 isoform 3
NM_153609.4	NP_705837.2	transmembrane protease serine 6 isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	18976966	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in membrane protein proteolysis	IMP IMP: Inferred from mutant phenotype	25156943	GOA
involved in multicellular organismal-level iron ion homeostasis	IMP IMP: Inferred from mutant phenotype	18408718	GOA
involved in negative regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	25156943	GOA
involved in self proteolysis	IMP IMP: Inferred from mutant phenotype	25156943	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in extracellular space	IDA IDA: Inferred from direct assay	25156943	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	19357398	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TMPRSS6 Protein Structure

SEA

Ldl_recept_a

Trypsin

0
200
400
600
811 a.a.

Protein Preferred Names	Protein Names
transmembrane protease serine 6	matriptase-2

TMPRSS6 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P89613	Matriptase-2 Antibody (YA8957)	WB, ICC/IF, IF-Tissue, IP, ELISA	human

Related Diseases

Diseases	Alias
Iron-Refractory Iron Deficiency Anemia	IRIDA Anemia, Hypochromic Microcytic, With Defect In Iron Metabolism Iron-Handling Disorder, Hereditary Pseudo-Iron-Deficiency Anemia Irida Syndrome Hereditary Iron-Handling Disorder Hypochromic Microcytic Anemia With Defect In Iron Metabolism Anemia, Iron Deficiency, Iron-Refractory
Microcytic Anemia	Iron-Refractory Iron Deficiency Anemia
Iron Deficiency Anemia	Iron-Deficiency Anemia Fe Deficiency Anaemia Ida - [Iron Deficiency Anemia] Fe - [Iron] Deficiency Anemia Nos
Hypochromic Microcytic Anemia	Anemia, Hypochromic Microcytic Microcytic Hypochromic Anemia
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Beta-Thalassemia Intermedia
Hemochromatosis, Type 1	Hemochromatosis Hemochromatosis Type 1 Hereditary Hemochromatosis Hh HFE1 Hfe Hemochromatosis, Modifier Of Symptomatic Form Of Classic Hemochromatosis Symptomatic Form Of Hemochromatosis Type 1 Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis Haemochromatosis Iron Storage Disorder Bronze Diabetes Hereditary Haemochromatosis Hlah Hfe Hemochromatosis, Hereditary Diabetes Bronze Classic Hemochromatosis Hfe-Associated Hereditary Hemochromatosis Hemochromatosis Classic Bronzed Cirrhosis Familial Hemochromatosis Genetic Hemochromatosis Hc Pigmentary Cirrhosis Primary Hemochromatosis Troisier-Hanot-Chauffard Syndrome Von Recklenhausen-Applebaum Disease Hemochromatosis 1 Primary Hereditary Hemochromatosis Bronze Cirrhosis
Beta-Thalassemia	Beta Thalassemia Cooley'S Anemia Mediterranean Anemia Beta Thalassemia Intermedia Erythroblastic Anemia Thalassemia, Hispanic Gamma-Delta-Beta Thalassemia Major Thalassemia Minor Beta-Plus-Thalassemia Thalassemia, Beta Beta Thalassemia Major Beta Thalassemia Minor Thalassemias, Beta- Microcytemia, Beta Type Thalassemia, Beta Type B-THAL Mediterranean Anaemia Beta Thalassaemia Syndrome Mediterranean Disease Beta Thalassaemia Disease
Hemochromatosis Type 2	Juvenile Hemochromatosis Juvenile Hereditary Hemochromatosis Hfe2 Jhh Hemochromatosis Juvenile Iron Overload Disease Juvenile Hemochromatosis, Juvenile Hemochromatosis, Type 2 Hemochromatosis Hemochromatosis, Type 1
Thalassemia	Sickle-Cell Thalassemia With Crisis Sickle-Cell Thalassemia Without Crisis Thalassemia Hb-S Disease With Crisis Thalassemia Hb-S Disease Without Crisis Thalassemias Hereditary Leptocytosis Haemoglobin Thalassaemia Disorder Thalassaemia Syndrome Thalassaemia Nos Thalassemia Variants
Anemia, Sideroblastic, 1	Xlsa X-Linked Sideroblastic Anemia Hypochromic Anemia Anh1 Hereditary Iron-Loading Anemia Anemia, Sideroblastic, X-Linked Anemia, Hereditary Sideroblastic Erythroid 5-Aminolevulinate Synthase Deficiency Hereditary Sideroblastic Anemia SIDBA1 Anemia, Hypochromic Sideroblastic Anemia 1 Anemia Hypochromic X Chromosome-Linked Sideroblastic Anemia Sideroblastic Anaemia 1 X-Linked Sideroblastic Anaemia Anemia Hereditary Sideroblastic Anemia Sex-Linked Hypochromic Sideroblastic Congenital Sideroblastic Anemia Sideroblastic Anemia X-Linked Anemia, Sex-Linked Hypochromic Sideroblastic Congenital Sideroblastic Anaemia X-Linked Pyridoxine-Responsive Sideroblastic Anemia Anemia Congenital Sideroblastic Anemia, Sideroblastic, Type 1 Sex-Linked Hypochromic Sideroblastic Anaemia Autosomal Recessive Sideroblastic Anaemia Familial Sex Linked Hypochromic Anaemia
Metal Metabolism Disorder	Metal Metabolism, Inborn Errors Inborn Metal Metabolism Disorder
Hemochromatosis, Type 4	Hemochromatosis Type 4 Hemochromatosis Due To Defect In Ferroportin HFE4 Hemochromatosis, Autosomal Dominant Autosomal Dominant Hereditary Hemochromatosis Ferroportin Disease Hemochromatosis 4 Hemochromatosis Autosomal Dominant
Hemochromatosis, Type 3	Hemochromatosis Type 3 HFE3 Hemochromatosis Due To Defect In Transferrin Receptor 2 Tfr2-Related Hemochromatosis Tfr2-Related Hereditary Hemochromatosis Hemochromatosis 3
Nutritional Deficiency Disease	Malnutrition Nutritional Disorder Nutritional Deficiency Nutrition Deficiency Diseases Carbamoyl-Phosphate Synthase I Deficiency Disease Nutrition Disorders
Iron Overload In Africa	African Iron Overload Bantu Siderosis African Hemochromatosis Hereditary Iron Overload And African Americans African Nutritional Hemochromatosis African Siderosis
Atransferrinemia	Familial Hypotransferrinemia Congenital Atransferrinemia Hypotransferrinemia, Familial Congenital Hypotransferrinemia ATRAF
Iron Metabolism Disease	Iron Deficiency Iron Disorder Iron Metabolism Disorders Disorder Of Iron Metabolism Iron Fe Deficiency Iron Storage Disease Iron Storage Disorder
Beta-Thalassemia Major	Cooley'S Anemia Cooley Anemia Mediterranean Anemia
Hemoglobinopathy	Hemoglobinopathies
Hemolytic Anemia	Anemia, Hemolytic Anemia Hemolytic Anaemia Due To Other Disorders Of Glutathione Metabolism Chronic Non Spherocytic Anaemia G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia Favism Anaemia Haemolytic Anaemia Due Tog6pd Deficiency Favism Pentose Phosphate Pathway Disorder Anaemia Anaemia Due To Pentose Phosphate Pathway Defect
Aceruloplasminemia	Cerebellar Ataxia Hypoceruloplasminemia Hemosiderosis, Systemic, Due To Aceruloplasminemia Familial Apoceruloplasmin Deficiency Hereditary Ceruloplasmin Deficiency Deficiency Of Ferroxidase Hypoceruloplasminemia, Hereditary Ceruloplasmin Deficiency Systemic Hemosiderosis Due To Aceruloplasminemia ACERULOP
Alpha-Thalassemia	Alpha Thalassemia Alpha Thalassaemia Alpha Plus Thalassemia Thalassemia, Alpha- Thalassemias, Alpha- A-Thalassemia Α-Thalassemia A-THAL Thalassemia Alpha Thalassaemia Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Phase
HY-177662	Sapablursen	Inhibitor	96.05%	Phase 2
HY-147278A	Manusiran sodium	Inhibitor	/	Phase 2
HY-177662A	Sapablursen sodium	Inhibitor	/	Phase 2

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P991637	Exerenibart	Inhibitor	/	Phase 2

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-130136A	TMPRSS6-IN-1 TFA	Inhibitor	/	Unkown
HY-130136	TMPRSS6-IN-1	Inhibitor	/	Unkown
HY-147278	Manusiran	Inhibitor	/	Unkown
HY-P11260	MD5	Inhibitor	/	Unkown
HY-RS14773	TMPRSS6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-180217	WGU55	Inhibitor	/	Unkown
HY-RS19286	Tmprss6 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25776	Tmprss6 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P992451	RLYB331		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	TMPRSS6	VGNC	VGNC:36144
Mus musculus	TMPRSS6	MGD	MGI:1919003
Rattus norvegicus	TMPRSS6	RGD	RGD:1307138
Macaca mulatta	TMPRSS6	VGNC	VGNC:79038
Canis familiaris	TMPRSS6	VGNC	VGNC:47636
Felis catus	TMPRSS6	VGNC	VGNC:66389
Others	TMPRSS6	NCBI