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

    Gene ID: 148738, updated on 16-Sep-2018

    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; Vega:OTTHUMG00000013748
    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

    Genomic context

    See HJV in Genome Data Viewer
    Location:
    1q21.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (146017468..146021822, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (145413191..145417545)

    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 transfer RNA-Glu (CTC) 1-1 Neighboring gene transfer RNA-Gly (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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Hemochromatosis type 2A Compare labs

    NHGRI GWAS Catalog

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

    Pathways from BioSystems

    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • BMP receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
      BMP receptor signaling, organism-specific biosystem
      BMP receptor signaling
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Hfe effect on hepcidin production, organism-specific biosystem (from WikiPathways)
      Hfe effect on hepcidin production, organism-specific biosystemnew pathway, converted from mouse WP3673
    • Netrin-1 signaling, organism-specific biosystem (from REACTOME)
      Netrin-1 signaling, organism-specific biosystemNetrins are secreted proteins that play a crucial role in neuronal migration and in axon guidance during the development of the nervous system. To date, several Netrins have been described in mouse a...

    General gene information

    Markers

    Homology

    Clone Names

    • MGC23953

    Gene Ontology Provided by GOA

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

    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_001316767.1NP_001303696.1  hemojuvelin isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e) uses an alternate splice junction compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants c, d, and e all encode the same isoform (c).
      Source sequence(s)
      BC017926, BC085604, DA893500, DB035674
      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_145277.4NP_660320.3  hemojuvelin isoform b

      See identical proteins and their annotated locations for NP_660320.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b) lacks a segment in the 5' UTR and an in-frame portion of the 5' coding region, compared to variant a. The resulting isoform (b) has a shorter N-terminus when compared to isoform a.
      Source sequence(s)
      AK124273, BC085604, DB035674
      Consensus CDS
      CCDS72878.1
      UniProtKB/Swiss-Prot
      Q6ZVN8
      UniProtKB/TrEMBL
      A8K466
      Related
      ENSP00000350495.5, OTTHUMP00000015583, ENST00000357836.5, OTTHUMT00000038528
      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
    3. NM_202004.3NP_973733.1  hemojuvelin isoform c

      See identical proteins and their annotated locations for NP_973733.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (c) lacks two segments in the 5' UTR and an in-frame portion of the 5' coding region, compared to variant a. The resulting isoform (c) has a shorter N-terminus when compared to isoform a. Variants c, d, and e all encode the same isoform (c).
      Source sequence(s)
      AK124273, BC017926, BC085604, DB035674
      Consensus CDS
      CCDS72877.1
      UniProtKB/Swiss-Prot
      Q6ZVN8
      Related
      ENSP00000421820.1, OTTHUMP00000218198, ENST00000497365.5, OTTHUMT00000038529
      Conserved Domains (1) summary
      pfam06534
      Location:4163
      RGM_C; Repulsive guidance molecule (RGM) C-terminus
    4. NM_213652.3NP_998817.1  hemojuvelin isoform c

      See identical proteins and their annotated locations for NP_998817.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (d) lacks a segment in the 5' UTR and an in-frame portion of the 5' coding region, compared to variant a. The resulting isoform (c) has a shorter N-terminus when compared to isoform a. Variants c, d, and e all encode the same isoform (c).
      Source sequence(s)
      AK124273, BC085604, DB035674
      Consensus CDS
      CCDS72877.1
      UniProtKB/Swiss-Prot
      Q6ZVN8
      Related
      ENSP00000425716.1, OTTHUMP00000218199, ENST00000475797.1, OTTHUMT00000038530
      Conserved Domains (1) summary
      pfam06534
      Location:4163
      RGM_C; Repulsive guidance molecule (RGM) C-terminus
    5. NM_213653.3NP_998818.1  hemojuvelin isoform a precursor

      See identical proteins and their annotated locations for NP_998818.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a) represents the longest transcript, and encodes the longest isoform (a).
      Source sequence(s)
      AK124273, BC085604, DB035674
      Consensus CDS
      CCDS72879.1
      UniProtKB/Swiss-Prot
      Q6ZVN8
      UniProtKB/TrEMBL
      A0A024R4F5
      Related
      ENSP00000337014.5, OTTHUMP00000015582, ENST00000336751.10, OTTHUMT00000038527
      Conserved Domains (2) summary
      pfam06534
      Location:230394
      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 Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      146017468..146021822 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005272932.1XP_005272989.1  hemojuvelin isoform X1

      See identical proteins and their annotated locations for XP_005272989.1

      UniProtKB/Swiss-Prot
      Q6ZVN8
      UniProtKB/TrEMBL
      A0A024R4F5
      Conserved Domains (2) summary
      pfam06534
      Location:230394
      RGM_C; Repulsive guidance molecule (RGM) C-terminus
      pfam06535
      Location:37225
      RGM_N; Repulsive guidance molecule (RGM) N-terminus
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