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  2. HJV - hemojuvelin BMP co-receptor Gene

HJV - hemojuvelin BMP co-receptor Gene

中文名称:血幼素 BMP 辅助受体

种属: Homo sapiens

同用名: JH; HFE2; RGMC; HFE2A

基因 ID: 148738 | 基因类型: protein coding

关于 HJV

Cytogenetic location: 1q21.1 Genomic coordinates (GRCh38): 1:146,017,470-146,021,735 (from NCBI)

This gene has 7 transcripts (splice variants), 212 orthologues, 2 paralogues and is associated with 3 phenotypes. Biased expression in liver (RPKM 40.4), heart (RPKM 17.1) and 2 other tissues.

功能概要

该基因的产物参与铁代谢。它可能是激活铁调素的信号通路的一个组成部分,或者它可能充当铁调素表达的调节剂。它还可以代表铁调素的细胞受体。 5' UTR 中的两个 uORF 负向调节编码蛋白的表达和活性。已经为该基因鉴定了编码不同亚型的可变剪接转录物变体。该基因的缺陷是 2A 型血色素沉着症的病因,也称为幼年型血色素沉着症 (JH) 。 JH 是一种早发性常染色体隐性遗传病,由于严重的铁过载导致性腺功能减退症、肝纤维化或肝硬化和心肌病,通常发生在 30 岁之前。[RefSeq 提供,2015 年 10 月]

The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Two uORFs in the 5' UTR negatively regulate the expression and activity of the encoded protein. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq, Oct 2015]

HJV 基因产物(6)

mRNA Protein Name
NM_001316767.2 NP_001303696.1 hemojuvelin isoform c
NM_001379352.1 NP_001366281.1 hemojuvelin isoform a precursor
NM_145277.5 NP_660320.3 hemojuvelin isoform b
NM_202004.4 NP_973733.1 hemojuvelin isoform c
NM_213652.4 NP_998817.1 hemojuvelin isoform c
NM_213653.4 NP_998818.1 hemojuvelin isoform a precursor
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 BMP binding IPI
IPI: 通过物理相互作用推断
18335997 GOA
contributes to BMP receptor activity IDA
IDA: 通过直接分析推断
16604073 GOA
enables coreceptor activity IDA
IDA: 通过直接分析推断
16604073 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18335997 GOA
enables signaling receptor binding IPI
IPI: 通过物理相互作用推断
18326817 GOA
enables transferrin receptor binding IPI
IPI: 通过物理相互作用推断
22728873 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in BMP signaling pathway IGI
IGI: 通过遗传相互作用推断
18326817 GOA
involved in BMP signaling pathway IMP
IMP: 通过突变表型推断
16604073 GOA
involved in activin receptor signaling pathway IGI
IGI: 通过遗传相互作用推断
18326817 GOA
involved in cellular response to BMP stimulus IMP
IMP: 通过突变表型推断
16604073 GOA
acts upstream of or within multicellular organismal-level iron ion homeostasis IDA
IDA: 通过直接分析推断
16075058 GOA
acts upstream of or within multicellular organismal-level iron ion homeostasis IGI
IGI: 通过遗传相互作用推断
16075058 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
16604073 GOA
involved in protein autoprocessing IMP
IMP: 通过突变表型推断
18335997 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of BMP receptor complex IDA
IDA: 通过直接分析推断
16604073 GOA
part of HFE-transferrin receptor complex IDA
IDA: 通过直接分析推断
22728873 GOA
located in extracellular space IDA
IDA: 通过直接分析推断
17938254 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
16075058 GOA
part of plasma membrane protein complex IDA
IDA: 通过直接分析推断
18335997 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

HJV 蛋白结构

RGM_N

RGM_N: Repulsive guidance molecule (RGM) N-terminus (37 - 226)

RGM_C

RGM_C: Repulsive guidance molecule (RGM) C-terminus (230 - 395)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 426 a.a.
蛋白主名 其他名称

hemojuvelin

RGM domain family member C

重组 HJV 蛋白

目录号 产品名 蛋白编号 纯度
HY-P78028 RGM-C Protein, Human (HEK293, His) Q6ZVN8-1 (Q36-D400) ≥95%

关联疾病

疾病名称 别名
Hemochromatosis, Type 2a

Hemochromatosis Type 2a

HFE2A

Juvenile Hemochromatosis

Hemochromatosis 2a

Hefe2

Hemochromatosis Type 2

Jh

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

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

Iron Metabolism Disease

Iron Deficiency

Iron Disorder

Iron Metabolism Disorders

Disorder Of Iron Metabolism

Iron

Fe Deficiency

Iron Storage Disease

Iron Storage Disorder

Rare Hereditary Hemochromatosis

Iron Overload

Iron Overload Disease

Idiopathic Haemosiderosis

Hemosiderosis

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

Iron Deficiency Anemia

Iron-Deficiency Anemia

Fe Deficiency Anaemia

Ida - [Iron Deficiency Anemia]

Fe - [Iron] Deficiency Anemia Nos

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

Metal Metabolism Disorder

Metal Metabolism, Inborn Errors

Inborn Metal Metabolism Disorder

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

Atransferrinemia

Familial Hypotransferrinemia

Congenital Atransferrinemia

Hypotransferrinemia, Familial

Congenital Hypotransferrinemia

ATRAF

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 3

Hemochromatosis Type 3

HFE3

Hemochromatosis Due To Defect In Transferrin Receptor 2

Tfr2-Related Hemochromatosis

Tfr2-Related Hereditary Hemochromatosis

Hemochromatosis 3

Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia

Hypogonadism
Iron Overload In Africa

African Iron Overload

Bantu Siderosis

African Hemochromatosis

Hereditary Iron Overload And African Americans

African Nutritional Hemochromatosis

African Siderosis

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

Sideroblastic Anemia

Anemia Sideroblastic

Anemia, Sideroblastic

Anemia, Hypochromic With Iron Loading

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

Anemia, Congenital Dyserythropoietic, Type Ia

Congenital Dyserythropoietic Anemia Type I

Cda I

CDAN1A

Congenital Dyserythropoietic Anemia Type 1

Congenital Dyserythropoietic Anemia Type Ia

Congenital Dyserythropoietic Anemia, Type I

Anemia, Congenital Dyserythropoietic, Type I

Cda Type 1

Cda Type I

Cda Ia

Dyserythropoietic Anemia, Congenital Type 1

Anemia, Congenital Dyserythropoietic, Type 1a

Dyserythropoietic Anemia, Congenital, Type Ia

Cda, Type Ia

Congenital Dyserythropoietic Anaemia Type 1

Congenital Dyserythropoietic Anaemia Type I

Anemia, Dyserythropoietic, Congenital Type 1

Type I Congenital Dyserythropoietic Anemia

Anemia, Congenital Dyserythropoietic, 1a

Anemia, Dyserythropoietic, Congenital, Type Ia

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

Arthropathy

Ankylosis Of Ankle And Foot Joint

Ankylosis Of Forearm Joint

Ankylosis Of Hand Joint

Ankylosis Of Joint Of Ankle And/Or Foot

Ankylosis Of Joint Of Forearm

Ankylosis Of Joint Of Hand

Ankylosis Of Joint Of Lower Leg

Ankylosis Of Joint Of Multiple Sites

Ankylosis Of Joint Of Pelvic Region And Thigh

Ankylosis Of Joint Of Shoulder Region

Ankylosis Of Joint Of Upper Arm

Ankylosis Of Lower Leg Joint

Ankylosis Of Multiple Joints

Ankylosis Of Upper Arm Joint

Infectious Arthropathy

Joint Ankylosis Of The Ankle And Foot

Joint Ankylosis Of The Ankle And/Or Foot

Joint Ankylosis Of The Forearm

Joint Ankylosis Of The Hand

Joint Ankylosis Of The Lower Leg

Joint Ankylosis Of The Pelvic Region And Thigh

Joint Ankylosis Of The Shoulder Region

Joint Ankylosis Of The Upper Arm

Joint Diseases

Joint Disease

Arthropathy Associated With Infection

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

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

Hypochromic Microcytic Anemia

Anemia, Hypochromic Microcytic

Microcytic Hypochromic Anemia

Beta-Thalassemia Intermedia
Microcytic Anemia

Iron-Refractory Iron Deficiency Anemia

Hemochromatosis, Type 2b

Hemochromatosis Type 2b

HFE2B

Hemochromatosis 2b

Autosomal Dominant Beta Thalassemia

Inclusion Body Beta-Thalassemia

Hemosiderosis

Haemosiderosis

Iron Overload

Beta-Thalassemia Major

Cooley'S Anemia

Cooley Anemia

Mediterranean Anemia

Nutritional Deficiency Disease

Malnutrition

Nutritional Disorder

Nutritional Deficiency

Nutrition

Deficiency Diseases

Carbamoyl-Phosphate Synthase I Deficiency Disease

Nutrition Disorders

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

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 HJV VGNC VGNC:73469
Canis familiaris HJV VGNC VGNC:52597
Bos taurus HJV VGNC VGNC:52785
Mus musculus HJV MGD MGI:1916835
Rattus norvegicus HJV RGD RGD:1310195
Macaca fascicularis HJV NCBI NCBI:102138915
Others HJV NCBI