1. Gene
  2. TFR2 - transferrin receptor 2 Gene

TFR2 - transferrin receptor 2 Gene

中文名称:转铁蛋白受体 2

种属: Homo sapiens

同用名: HFE3; TFRC2

基因 ID: 7036 | 基因类型: protein coding

关于 TFR2

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:100,620,420-100,641,552 (from NCBI)

This gene has 13 transcripts (splice variants), 169 orthologues, 5 paralogues and is associated with 3 phenotypes. Restricted expression toward liver (RPKM 143.5).

功能概要

该基因编码单程 II 型膜蛋白,它是转铁蛋白受体样家族的成员。该蛋白介导转铁蛋白结合铁的细胞摄取,并可能参与铁代谢、肝细胞功能和红细胞分化。该基因的突变与遗传性血色素沉着症 III 型有关。已经针对该基因描述了编码不同亚型的选择性剪接转录物变体。[RefSeq 提供,2011 年 5 月]

This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]

TFR2 基因产物(2)

mRNA Protein Name
NM_001206855.3 NP_001193784.1 transferrin receptor protein 2 isoform 2
NM_003227.4 NP_003218.2 transferrin receptor protein 2 isoform 1
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 co-receptor binding IPI
IPI: 通过物理相互作用推断
22728873 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18353247 GOA
enables transferrin receptor activity IDA
IDA: 通过直接分析推断
18353247 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to iron ion IGI
IGI: 通过遗传相互作用推断
18353247 GOA
involved in endocytic iron import into cell IGI
IGI: 通过遗传相互作用推断
18353247 GOA
involved in intracellular iron ion homeostasis IDA
IDA: 通过直接分析推断
18353247 GOA
involved in multicellular organismal-level iron ion homeostasis IMP
IMP: 通过突变表型推断
21173098 GOA
involved in positive regulation of endocytosis IGI
IGI: 通过遗传相互作用推断
18353247 GOA
involved in positive regulation of peptide hormone secretion IMP
IMP: 通过突变表型推断
21173098 GOA
involved in positive regulation of protein maturation IGI
IGI: 通过遗传相互作用推断
18353247 GOA
involved in positive regulation of transcription by RNA polymerase II IGI
IGI: 通过遗传相互作用推断
25635054 GOA
involved in receptor-mediated endocytosis IGI
IGI: 通过遗传相互作用推断
18353247 GOA
involved in response to iron ion IMP
IMP: 通过突变表型推断
21173098 GOA
involved in transferrin transport IGI
IGI: 通过遗传相互作用推断
18353247 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of HFE-transferrin receptor complex IDA
IDA: 通过直接分析推断
12704209 GOA
located in cytoplasmic vesicle IDA
IDA: 通过直接分析推断
12704209 GOA
located in external side of plasma membrane IGI
IGI: 通过遗传相互作用推断
18353247 GOA
located in plasma membrane IGI
IGI: 通过遗传相互作用推断
18353247 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

TFR2 蛋白结构

PA

PA: PA domain (237 - 325)

Peptidase_M28

Peptidase_M28: Peptidase family M28 (424 - 609)

TFR_dimer

TFR_dimer: Transferrin receptor-like dimerisation domain (669 - 792)

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

transferrin receptor protein 2

关联疾病

疾病名称 别名
Hemochromatosis, Type 3

Hemochromatosis Type 3

HFE3

Hemochromatosis Due To Defect In Transferrin Receptor 2

Tfr2-Related Hemochromatosis

Tfr2-Related Hereditary Hemochromatosis

Hemochromatosis 3

Tfr2-Related Hereditary Hemochromatosis

Type 3 Hereditary Hemochromatosis

Hereditary Hemochromatosis Type 3

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

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 2

Juvenile Hemochromatosis

Juvenile Hereditary Hemochromatosis

Hfe2

Jhh

Hemochromatosis Juvenile

Iron Overload Disease Juvenile

Hemochromatosis, Juvenile

Hemochromatosis, Type 2

Hemochromatosis

Hemochromatosis, Type 1

Rare Hereditary Hemochromatosis

Iron Overload

Iron Overload Disease

Idiopathic Haemosiderosis

Hemosiderosis

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

Atransferrinemia

Familial Hypotransferrinemia

Congenital Atransferrinemia

Hypotransferrinemia, Familial

Congenital Hypotransferrinemia

ATRAF

Iron Deficiency Anemia

Iron-Deficiency Anemia

Fe Deficiency Anaemia

Ida - [Iron Deficiency Anemia]

Fe - [Iron] Deficiency Anemia Nos

Iron Metabolism Disease

Iron Deficiency

Iron Disorder

Iron Metabolism Disorders

Disorder Of Iron Metabolism

Iron

Fe Deficiency

Iron Storage Disease

Iron Storage Disorder

Metal Metabolism Disorder

Metal Metabolism, Inborn Errors

Inborn Metal Metabolism Disorder

Iron Overload In Africa

African Iron Overload

Bantu Siderosis

African Hemochromatosis

Hereditary Iron Overload And African Americans

African Nutritional Hemochromatosis

African Siderosis

Porphyria Cutanea Tarda

Hepatoerythropoietic Porphyria

HEP

Uroporphyrinogen Decarboxylase Deficiency

Pct

Pct, Type Ii

Porphyria, Hepatocutaneous Type

Urod Deficiency

Porphyria, Hepatoerythropoietic

Porphyria Cutanea Tarda, Susceptibility To

Familial Porphyria Cutanea Tarda

Porphyria Cutanea Tarda, Type Ii

Pct, 'Familial' Type

Porphyria, Hepatic

FPCT

Pct Type Ii

Porphyria Cutanea Tarda Type Ii

Porphyria Hepatocutaneous Type

Heterozygous Uroporphyrinogen Decarboxylase Deficiency

Urod - [Uroporphyrinogen Decarboxylase] Deficiency

Pct - [Porphyria Cutanea Tarda]

Hemochromatosis, Type 5

Hemochromatosis Type 5

HFE5

Fth1-Related Iron Overload

Iron Overload, Autosomal Dominant

Fth1-Associated Iron Overload

Hemochromatosis 5

Autosomal Dominant Iron Overload

Porphyria

Hematoporphyria

Porphyrias

Disorder Of Porphyrin And Hem Metabolism

Disorder Of Porphyrin Metabolism

Porphyrinopathy

Porphyrin Disorder

Disorder Of Porphyrin And Heme Metabolism

Disorders Of Porphyrin Metabolism

Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia

Sideroblastic Anemia

Anemia Sideroblastic

Anemia, Sideroblastic

Anemia, Hypochromic With Iron Loading

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

Hyperferritinemia With Or Without Cataract

Hyperferritinemia-Cataract Syndrome

Hhcs

Hereditary Hyperferritinemia With Congenital Cataracts

Hyperferritinemia, Hereditary, With Congenital Cataracts

Bonneau-Beaumont Syndrome

HRFTC

Hereditary Hyperferritinemia-Cataract Syndrome

Cataract-Hyperferritinemia Syndrome

Hyperferritinemia Cataract Syndrome

Hereditary Hyperferritinemia Cataract Syndrome

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

Beta-Thalassemia Intermedia
Hypogonadotropic Hypogonadism

Klinefelter Syndrome

Klinefelter'S Syndrome

Xxy Syndrome

Xxy Trisomy

Hypogonadotropism

47, Xxy

Congenital Idiopathic Hypogonadotropic Hypogonadism

Isolated Congenital Gonadotropin Deficiency

47,Xxy Syndrome

47, Xxy Syndrome

Klinefelters Syndrome

Hypogonadism

Klinefelter Syndrome In Males

Klinefelter Syndrome, Unspecified

Klinefelter Syndrome Karyotype 47, Xxy

Hemosiderosis

Haemosiderosis

Iron Overload

Hemochromatosis, Type 2b

Hemochromatosis Type 2b

HFE2B

Hemochromatosis 2b

Microcytic Anemia

Iron-Refractory Iron Deficiency Anemia

Beta-Thalassemia Major

Cooley'S Anemia

Cooley Anemia

Mediterranean Anemia

Autosomal Dominant Beta Thalassemia

Inclusion Body Beta-Thalassemia

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

Hemoglobinopathy

Hemoglobinopathies

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
Macaca mulatta TFR2 VGNC VGNC:81770
Felis catus TFR2 VGNC VGNC:66126
Canis familiaris TFR2 VGNC VGNC:47304
Bos taurus TFR2 VGNC VGNC:35796
Rattus norvegicus TFR2 RGD RGD:1310152
Mus musculus TFR2 MGD MGI:1354956
Others TFR2 NCBI