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HJV hemojuvelin BMP co-receptor [ Homo sapiens (human) ]

Gene ID: 148738, updated on 2-Nov-2024

Summary

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Official Symbol
HJVprovided by HGNC
Official Full Name
hemojuvelin BMP co-receptorprovided by HGNC
Primary source
HGNC:HGNC:4887
See related
Ensembl:ENSG00000168509 MIM:608374; AllianceGenome:HGNC:4887
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
JH; HFE2; RGMC; HFE2A
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]
Expression
Biased expression in liver (RPKM 40.4), heart (RPKM 17.1) and 2 other tissues See more
Orthologs
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Genomic context

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See HJV in Genome Data Viewer
Location:
1q21.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (146017470..146021735, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (145134353..145138618, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (145413278..145417543)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA polymerase III subunit GL Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:145458517-145459016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1622 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:145455010-145456209 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1626 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1628 Neighboring gene thioredoxin interacting protein Neighboring gene ReSE screen-validated silencer GRCh37_chr1:145432616-145432823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1271 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1272 Neighboring gene tRNA-Glu (anticodon CTC) 1-1 Neighboring gene tRNA-Gly (anticodon TCC) 2-1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Expression of human Hemojuvelin (HJV) is tightly regulated by two upstream open reading frames in HJV mRNA that respond to iron overload in hepatic cells. Onofre C, et al. Mol Cell Biol, 2015 Apr. PMID 25666510, Free PMC Article
  2. Immunoassay for human serum hemojuvelin. Brasse-Lagnel C, et al. Haematologica, 2010 Dec. PMID 20713458, Free PMC Article
  3. Homozygous G320V mutation in the HJV gene causing juvenile hereditary haemochromatosis type A. A case report. Militaru MS, et al. J Gastrointestin Liver Dis, 2010 Jun. PMID 20593054
  4. Downregulation of hemojuvelin prevents inhibitory effects of bone morphogenetic proteins on iron metabolism in hepatocellular carcinoma. Maegdefrau U, et al. Lab Invest, 2011 Nov. PMID 21863061
  5. Hemojuvelin (HJV)-associated hemochromatosis: analysis of HJV and HFE mutations and iron overload in three families. Wallace DF, et al. Haematologica, 2005 Feb. PMID 15710580

See all (94) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.
    Title: New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.
  2. Estimates of West African Ancestry in African Americans Using Alleles of Iron-Related Genes HJV, SLC40A1, and TFR2.
    Title: Estimates of West African Ancestry in African Americans Using Alleles of Iron-Related Genes HJV, SLC40A1, and TFR2.
  3. The functional role of hemojuvelin in acute ischemic stroke.
    Title: The functional role of hemojuvelin in acute ischemic stroke.
  4. HJV was significantly downregulated in the muscles of Duchenne muscular dystrophy patients as well as in those of aged humans.
    Title: Hemojuvelin is a novel suppressor for Duchenne muscular dystrophy and age-related muscle wasting.
  5. Compound heterozygous mutations of HJV or combined heterozygous mutations of BMP/SMAD pathway genes, marked by HJV variants in the signal peptide region, may represent a novel aetiological factor for Hereditary haemochromatosis (HH).
    Title: Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants.
  6. mild phenotype and late onset are possible in HJV hemochromatosis
    Title: Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis?
  7. Urinary HJV differentiated patients with/without acute kidney injury (AKI), advanced AKI or composite outcome after surgery.
    Title: Hemojuvelin Predicts Acute Kidney Injury and Poor Outcomes Following Cardiac Surgery.
  8. Soluble haemojuvelin levels seem to be associated with iron overload parameters and hepcidin levels in hepatitis C virus positive hemodialysis patients.
    Title: Relationship of serum haemojuvelin and hepcidin levels with iron level and erythropoietin requirement in prevalent hepatitis C virus positive haemodialysis patients.
  9. HJV increases hepcidin expression in cells transfected with mutant ALK2. Thus, although the BMP pathway is inhibited when normal MT2 cleaves HJV, in the presence of both ALK2wt and mutant ALK2, the heterozygosity for the inactive MT2I212T may leave enough membrane HJV to allow persistent hepcidin activation.
    Title: A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2.
  10. Of the non-HFE forms of iron overload, TFR2-, HFE2-, and HAMP-related forms are predicted to be rare, with pathogenic allele frequencies in the range of 0.00007 to 0.0005. Significantly, SLC40A1 variants that have been previously associated with autosomal-dominant ferroportin disease were identified in several populations (pathogenic allele frequency 0.0004), being most prevalent among Africans
    Title: The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.
Submit: New GeneRIF Correction See all GeneRIFs (69)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hemochromatosis type 2A
MedGen: C1865614 OMIM: 602390 GeneReviews: Juvenile Hemochromatosis
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EBI GWAS Catalog

Description
Two-marker association tests yield new disease associations for coronary artery disease and hypertension.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC23953

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables BMP binding IPI
Inferred from Physical Interaction
more info
 PubMed 
contributes_to BMP receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables coreceptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables coreceptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables signaling receptor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transferrin receptor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in BMP signaling pathway IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in BMP signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in activin receptor signaling pathway IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in cellular response to BMP stimulus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intracellular iron ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within multicellular organismal-level iron ion homeostasis IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within multicellular organismal-level iron ion homeostasis IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in negative regulation of BMP signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein autoprocessing IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of BMP receptor complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of HFE-transferrin receptor complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell surface IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
part_of plasma membrane protein complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in side of membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
hemojuvelin
Names
RGM domain family member C
haemojuvelin
hemochromatosis type 2 (juvenile)
hemochromatosis type 2 protein
hemojuvelin BMP coreceptor
repulsive guidance molecule c

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011568.2 RefSeqGene

    Range
    5000..9265
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001316767.2 → NP_001303696.1  hemojuvelin isoform c

    Status: REVIEWED

    Source sequence(s)
    BC017926, BC085604, DA893500
    Consensus CDS
    CCDS72877.1
    UniProtKB/Swiss-Prot
    Q6ZVN8
    Conserved Domains (1) summary
    pfam06534
    Location:4 → 163
    RGM_C; Repulsive guidance molecule (RGM) C-terminus

  2. NM_001379352.1 → NP_001366281.1  hemojuvelin isoform a precursor

    Status: REVIEWED

    Source sequence(s)
    AC243547
    Consensus CDS
    CCDS72879.1
    UniProtKB/Swiss-Prot
    B1ALI7, Q2PQ63, Q6IMF6, Q6ZVN8, Q8NAH2, Q8WVJ5
    UniProtKB/TrEMBL
    A8K9M7
    Conserved Domains (2) summary
    pfam06534
    Location:230 → 389
    RGM_C; Repulsive guidance molecule (RGM) C-terminus
    pfam06535
    Location:37 → 225
    RGM_N; Repulsive guidance molecule (RGM) N-terminus

  3. NM_145277.5 → NP_660320.3  hemojuvelin isoform b

    See identical proteins and their annotated locations for NP_660320.3

    Status: REVIEWED

    Source sequence(s)
    AK124273, BC085604, DB035674
    Consensus CDS
    CCDS72878.1
    UniProtKB/TrEMBL
    A8K466
    Related
    ENSP00000350495.5, ENST00000357836.5
    Conserved Domains (2) summary
    pfam06534
    Location:117 → 281
    RGM_C; Repulsive guidance molecule (RGM) C-terminus
    pfam06535
    Location:1 → 112
    RGM_N; Repulsive guidance molecule (RGM) N-terminus

  4. NM_202004.4 → NP_973733.1  hemojuvelin isoform c

    See identical proteins and their annotated locations for NP_973733.1

    Status: REVIEWED

    Source sequence(s)
    AK124273, BC017926, BC085604, DB035674
    Consensus CDS
    CCDS72877.1
    UniProtKB/Swiss-Prot
    Q6ZVN8
    Related
    ENSP00000421820.1, ENST00000497365.5
    Conserved Domains (1) summary
    pfam06534
    Location:4 → 163
    RGM_C; Repulsive guidance molecule (RGM) C-terminus

  5. NM_213652.4 → NP_998817.1  hemojuvelin isoform c

    See identical proteins and their annotated locations for NP_998817.1

    Status: REVIEWED

    Source sequence(s)
    AK124273, BC085604, DB035674
    Consensus CDS
    CCDS72877.1
    UniProtKB/Swiss-Prot
    Q6ZVN8
    Related
    ENSP00000425716.1, ENST00000475797.1
    Conserved Domains (1) summary
    pfam06534
    Location:4 → 163
    RGM_C; Repulsive guidance molecule (RGM) C-terminus

  6. NM_213653.4 → NP_998818.1  hemojuvelin isoform a precursor

    See identical proteins and their annotated locations for NP_998818.1

    Status: REVIEWED

    Source sequence(s)
    AC243547
    Consensus CDS
    CCDS72879.1
    UniProtKB/Swiss-Prot
    B1ALI7, Q2PQ63, Q6IMF6, Q6ZVN8, Q8NAH2, Q8WVJ5
    UniProtKB/TrEMBL
    A8K9M7
    Related
    ENSP00000337014.5, ENST00000336751.11
    Conserved Domains (2) summary
    pfam06534
    Location:230 → 389
    RGM_C; Repulsive guidance molecule (RGM) C-terminus
    pfam06535
    Location:37 → 225
    RGM_N; Repulsive guidance molecule (RGM) N-terminus

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    146017470..146021735 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    145134353..145138618 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZVN8.1 GenPept UniProtKB/Swiss-Prot:Q6ZVN8

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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