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

    Gene ID: 148738, updated on 11-Jun-2021

    Summary

    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
    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

    See HJV in Genome Data Viewer
    Location:
    1q21.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (146017470..146021735, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (145413278..145417543)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene POLR3GL-TXNIP intergenic CAGE-defined low expression enhancer Neighboring gene thioredoxin interacting protein Neighboring gene tRNA-Glu (anticodon CTC) 1-1 Neighboring gene tRNA-Gly (anticodon TCC) 2-1

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Hemochromatosis type 2A
    MedGen: C1865614 OMIM: 602390 GeneReviews: Juvenile Hemochromatosis
    Compare labs
    Two-marker association tests yield new disease associations for coronary artery disease and hypertension.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    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 
    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 anchored component of membrane 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
    PubMed 
    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 

    General protein information

    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)

    NEW Try the new Transcript table

    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_011568.1 RefSeqGene

      Range
      5001..9355
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001316767.2NP_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:4163
      RGM_C; Repulsive guidance molecule (RGM) C-terminus
    2. NM_001379352.1NP_001366281.1  hemojuvelin isoform a precursor

      Status: REVIEWED

      Source sequence(s)
      AC243547
      Conserved Domains (2) summary
      pfam06534
      Location:230389
      RGM_C; Repulsive guidance molecule (RGM) C-terminus
      pfam06535
      Location:37225
      RGM_N; Repulsive guidance molecule (RGM) N-terminus
    3. NM_145277.5NP_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/Swiss-Prot
      Q6ZVN8
      UniProtKB/TrEMBL
      A8K466
      Related
      ENSP00000350495.5, ENST00000357836.5
      Conserved Domains (2) summary
      pfam06534
      Location:117281
      RGM_C; Repulsive guidance molecule (RGM) C-terminus
      pfam06535
      Location:1112
      RGM_N; Repulsive guidance molecule (RGM) N-terminus
    4. NM_202004.4NP_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:4163
      RGM_C; Repulsive guidance molecule (RGM) C-terminus
    5. NM_213652.4NP_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:4163
      RGM_C; Repulsive guidance molecule (RGM) C-terminus
    6. NM_213653.4NP_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
      Q6ZVN8
      UniProtKB/TrEMBL
      A0A024R4F5
      Related
      ENSP00000337014.5, ENST00000336751.11
      Conserved Domains (2) summary
      pfam06534
      Location:230389
      RGM_C; Repulsive guidance molecule (RGM) C-terminus
      pfam06535
      Location:37225
      RGM_N; Repulsive guidance molecule (RGM) N-terminus

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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