1. Gene
  2. TMPRSS6 - transmembrane serine protease 6 Gene

TMPRSS6 - transmembrane serine protease 6 Gene

中文名称:跨膜丝氨酸蛋白酶 6

种属: Homo sapiens

同用名: MT2; IRIDA

基因 ID: 164656 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质是一种 II 型跨膜丝氨酸蛋白酶,被发现附着在细胞表面。编码的蛋白质可能参与肝脏中的基质重塑过程。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 1 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
18976966 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in membrane protein proteolysis IMP
IMP: 通过突变表型推断
25156943 GOA
involved in multicellular organismal-level iron ion homeostasis IMP
IMP: 通过突变表型推断
18408718 GOA
involved in negative regulation of DNA-templated transcription IMP
IMP: 通过突变表型推断
25156943 GOA
involved in self proteolysis IMP
IMP: 通过突变表型推断
25156943 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular space IDA
IDA: 通过直接分析推断
25156943 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
19357398 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

TMPRSS6 蛋白结构

SEA

SEA: SEA domain (84 - 162)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (492 - 525)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (531 - 566)

Trypsin

Trypsin: Trypsin (577 - 806)

  • 0
  • 200
  • 400
  • 600
  • 811 a.a.
蛋白主名 其他名称

transmembrane protease serine 6

matriptase-2

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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