HJV - hemojuvelin BMP co-receptor Gene

Homo sapiens

Also known as JH; HFE2; RGMC; HFE2A

Gene ID: 148738 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables BMP binding	IPI IPI: Inferred from physical interaction	18335997	GOA
contributes to BMP receptor activity	IDA IDA: Inferred from direct assay	16604073	GOA
enables coreceptor activity	IDA IDA: Inferred from direct assay	16604073	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18335997	GOA
enables signaling receptor binding	IPI IPI: Inferred from physical interaction	18326817	GOA
enables transferrin receptor binding	IPI IPI: Inferred from physical interaction	22728873	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in BMP signaling pathway	IGI IGI: Inferred from genetic interaction	18326817	GOA
involved in BMP signaling pathway	IMP IMP: Inferred from mutant phenotype	16604073	GOA
involved in activin receptor signaling pathway	IGI IGI: Inferred from genetic interaction	18326817	GOA
involved in cellular response to BMP stimulus	IMP IMP: Inferred from mutant phenotype	16604073	GOA
acts upstream of or within multicellular organismal-level iron ion homeostasis	IDA IDA: Inferred from direct assay	16075058	GOA
acts upstream of or within multicellular organismal-level iron ion homeostasis	IGI IGI: Inferred from genetic interaction	16075058	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	16604073	GOA
involved in protein autoprocessing	IMP IMP: Inferred from mutant phenotype	18335997	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of BMP receptor complex	IDA IDA: Inferred from direct assay	16604073	GOA
part of HFE-transferrin receptor complex	IDA IDA: Inferred from direct assay	22728873	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	17938254	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	16075058	GOA
part of plasma membrane protein complex	IDA IDA: Inferred from direct assay	18335997	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

HJV Protein Structure

RGM_N

RGM_C

0
100
200
300
400
426 a.a.

Protein Preferred Names

Protein Names

hemojuvelin

RGM domain family member C

HJV Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	HJV	Q6ZVN8	BMP2	Homo sapiens	P12643	SPR	18335997
Intra	HJV	Q6ZVN8	TMPRSS6	Homo sapiens	Q8IU80-4	Anti Bait CoIP	18976966
Intra	HJV	Q6ZVN8	TMPRSS6	Homo sapiens	Q8IU80-4	Anti Tag CoIP	18976966
Intra	HJV	Q6ZVN8	TMPRSS6	Homo sapiens	Q8IU80-4	Anti Bait CoIP	19357398
Intra	HJV	Q6ZVN8	NEO1	Homo sapiens	Q92859	SLS	18335997
Intra	HJV	Q6ZVN8	NEO1	Homo sapiens	Q92859	Pull Down	18335997
Intra	HJV	Q6ZVN8	NEO1	Homo sapiens	Q92859	SPR	18335997

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant HJV Proteins

Cat. No.	Product Name	Accession	Purity
HY-P78028	RGM-C Protein, Human (HEK293, His)	Q6ZVN8-1 (Q36-D400)	≥95%

Related Diseases

Diseases

Alias

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

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06191	HJV Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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