HJV - hemojuvelin BMP co-receptor Gene

Also Known as JH; HFE2; RGMC; HFE2A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 148738

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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%, as determined by Bis-Tris PAGE.

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

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-147278A	Manusiran 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 (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-147278	Manusiran	Inhibitor	/	Unkown
HY-RS06191	HJV Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18590	Hjv Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25075	Hjv Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	HJV	NCBI