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

Gene ID: 148738, updated on 7-May-2016
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. 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]
Orthologs
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 subunit G 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 
contributes_to BMP receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
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 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 from RNA polymerase II promoter ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter 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
 
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_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
    UniProtKB/Swiss-Prot
    Q6ZVN8
    Conserved Domains (1) summary
    pfam06534
    Location:4170
    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, 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
  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, OTTHUMP00000218198, ENST00000497365, OTTHUMT00000038529
    Conserved Domains (1) summary
    pfam06534
    Location:4170
    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, OTTHUMP00000218199, ENST00000475797, OTTHUMT00000038530
    Conserved Domains (1) summary
    pfam06534
    Location:4170
    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, 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 details...

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 complement
    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/Swiss-Prot
    Q6ZVN8
    UniProtKB/TrEMBL
    A0A024R4F5
    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 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)