HJV Gene (Hemojuvelin)
Key regulator of hepcidin expression and iron homeostasis
Gene Information Card
| Symbol | HJV |
|---|---|
| Full Name | Hemojuvelin (BMP co-receptor) |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.1 |
| NCBI Gene ID | 148738 ncbi.nlm.nih.gov/gene/148738 |
| Ensembl ID | ENSG00000168509 |
| UniProt ID | Q6ZVN8 |
| OMIM ID | 608374 |
| HGNC ID | 4887 |
| Aliases | HFE2, RGMC, DL-M, HJV2 |
Description
The HJV gene encodes hemojuvelin, a bone morphogenetic protein (BMP) co-receptor essential for the regulation of hepcidin expression. Hepcidin is the master hormone controlling systemic iron homeostasis. HJV mutations cause juvenile hemochromatosis (type 2A), a severe iron overload disorder. The protein acts as a co-receptor for BMP2, BMP4, and BMP6, enhancing SMAD signaling to upregulate hepcidin transcription.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hemochromatosis type 2A (juvenile) | Loss-of-function mutations in HJV impair BMP-SMAD signaling, reducing hepcidin expression and causing unchecked intestinal iron absorption and tissue iron overload. | OMIM #602390; multiple reports in ClinVar and literature. |
| Iron-refractory iron deficiency anemia (IRIDA) | Rare gain-of-function variants in HJV may increase hepcidin, leading to iron restriction. | Limited evidence; case reports in ClinVar. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Skeletal muscle | 8.1 | Low |
| Heart | 5.4 | Low |
| Kidney | 3.2 | Low |
| Testis | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocyte model |
| Huh7 | 12.5 | Hepatocyte model |
| C2C12 | 6.8 | Myoblast model |
| HEK293 | 2.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.959G>A (p.Gly320Val) | Missense | Common in juvenile hemochromatosis | Loss of function; impaired BMP co-receptor activity |
| c.806_807delCT (p.Ser269*) | Nonsense | Rare | Truncated protein; loss of function |
| c.295C>T (p.Arg99*) | Nonsense | Rare | Premature stop; loss of function |
| c.1133T>C (p.Ile378Thr) | Missense | Rare | Reduced hepcidin induction |
Mutation functional classification
Loss of Function (LOF)
Most HJV mutations are loss-of-function, leading to juvenile hemochromatosis due to inadequate hepcidin expression.
Gain of Function (GOF)
Rare gain-of-function variants may cause iron-refractory iron deficiency anemia (IRIDA) by increasing hepcidin.
Dominant Negative (DN)
Not reported for HJV; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • BMP binding | • BMP receptor activity |
| • Iron ion homeostasis | • SMAD protein signal transduction |
| • Cellular response to iron ion |
Pathways
• BMP signaling pathway
• Iron homeostasis pathway
• Hepcidin regulation
Protein Summary
Hemojuvelin is a 426-amino acid glycoprotein with a RGD motif and a von Willebrand factor type D domain. It is primarily expressed in the liver and skeletal muscle. As a BMP co-receptor, it binds BMP2, BMP4, and BMP6, facilitating SMAD1/5/8 phosphorylation and nuclear translocation to activate hepcidin transcription. Soluble hemojuvelin (sHJV) acts as a negative regulator by competing with membrane-bound HJV. Mutations disrupting this pathway cause juvenile hemochromatosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HJV Knockout HEK293 Cell Line | EDJ-KQ122 | Human | 148738 | Details Get a Quote |
| HJV Knockout HeLa Cell Line | EDJ-KQ78018 | Human | 148738 | Details Get a Quote |
| HJV Knockout A-549 Cell Line | EDJ-KQ78019 | Human | 148738 | Details Get a Quote |
| HJV Knockout HCT 116 Cell Line | EDJ-KQ78020 | Human | 148738 | Details Get a Quote |
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