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    HFE2 hemochromatosis type 2 (juvenile) [ Homo sapiens (human) ]

    Gene ID: 148738, updated on 23-Aug-2015
    Official Symbol
    HFE2provided by HGNC
    Official Full Name
    hemochromatosis type 2 (juvenile)provided by HGNC
    Primary source
    HGNC:HGNC:4887
    See related
    Ensembl:ENSG00000168509; HPRD:10521; 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; HJV; 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. 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, Jul 2008]
    Orthologs
    See HFE2 in Epigenomics, MapViewer
    Location:
    1q21.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 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 ankyrin repeat domain 34A Neighboring gene polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like Neighboring gene thioredoxin interacting protein Neighboring gene transfer RNA-Glu (CTC) 1-1 Neighboring gene transfer RNA-Gly (TCC) 2-1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    • 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...
    • 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...

    Markers

    Homology

    Clone Names

    • MGC23953

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    BMP binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    coreceptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    coreceptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glycoprotein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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
     
    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 
    axon guidance TAS
    Traceable Author Statement
    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
     
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
     
    basolateral plasma 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    hemojuvelin
    Names
    RGM domain family member C
    haemojuvelin
    hemochromatosis type 2 protein
    repulsive guidance molecule c

    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_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/TrEMBL
      A8K466
      UniProtKB/Swiss-Prot
      Q6ZVN8
      Related
      ENSP00000350495, OTTHUMP00000015583, ENST00000357836, OTTHUMT00000038528
      Conserved Domains (2) summary
      pfam06534
      Location:117283
      RGM_C; Repulsive guidance molecule (RGM) C-terminus
      pfam06535
      Location:1113
      RGM_N; Repulsive guidance molecule (RGM) N-terminus
    2. 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 and d encode the same isoform (c).
      Source sequence(s)
      AK124273, BC017926, BC085604, DB035674
      Consensus CDS
      CCDS72877.1
      UniProtKB/Swiss-Prot
      Q6ZVN8
      Related
      ENSP00000421820, OTTHUMP00000218198, ENST00000497365, OTTHUMT00000038529
      Conserved Domains (1) summary
      pfam06534
      Location:4170
      RGM_C; Repulsive guidance molecule (RGM) C-terminus
    3. 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 and d encode the same isoform (c).
      Source sequence(s)
      AK124273, BC085604, DB035674
      Consensus CDS
      CCDS72877.1
      UniProtKB/Swiss-Prot
      Q6ZVN8
      Related
      ENSP00000425716, OTTHUMP00000218199, ENST00000475797, OTTHUMT00000038530
      Conserved Domains (1) summary
      pfam06534
      Location:4170
      RGM_C; Repulsive guidance molecule (RGM) C-terminus
    4. 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/TrEMBL
      A0A024R4F5
      UniProtKB/Swiss-Prot
      Q6ZVN8
      Related
      ENSP00000337014, OTTHUMP00000015582, ENST00000336751, OTTHUMT00000038527
      Conserved Domains (2) summary
      pfam06534
      Location:230396
      RGM_C; Repulsive guidance molecule (RGM) C-terminus
      pfam06535
      Location:37226
      RGM_N; Repulsive guidance molecule (RGM) N-terminus

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_005272932.1XP_005272989.1  

      See identical proteins and their annotated locations for XP_005272989.1

      UniProtKB/TrEMBL
      A0A024R4F5
      UniProtKB/Swiss-Prot
      Q6ZVN8
      Conserved Domains (2) summary
      pfam06534
      Location:230396
      RGM_C; Repulsive guidance molecule (RGM) C-terminus
      pfam06535
      Location:37226
      RGM_N; Repulsive guidance molecule (RGM) N-terminus

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      147385594..147389948
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)