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

    Gene ID: 148738, updated on 28-Oct-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
    mouse all
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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
    		Compare labs

    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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