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

Gene ID: 148738, updated on 19-Jul-2014
Official Symbol
HFE2provided by HGNC
Official Full Name
hemochromatosis type 2 (juvenile)provided by HGNC
Primary source
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]
See HFE2 in Epigenomics, MapViewer
Location:
1q21.1
Exon count:
4
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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?

  • 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
coreceptor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
BMP signaling pathway IEA
Inferred from Electronic Annotation
more info
 
axon guidance TAS
Traceable Author Statement
more info
 
iron ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
iron ion homeostasis IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
anchored component of membrane IEA
Inferred from Electronic Annotation
more info
 
cell surface IEA
Inferred from Electronic Annotation
more info
 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
hemojuvelin
Names
hemojuvelin
haemojuvelin
RGM domain family member C
repulsive guidance molecule c
hemochromatosis type 2 protein

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 

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

mRNA and Protein(s)

  1. NM_145277.4NP_660320.3  hemojuvelin isoform b

    See proteins identical to 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
    CCDS911.1
    UniProtKB/TrEMBL
    A8K466
    UniProtKB/Swiss-Prot
    Q6ZVN8
    Related
    ENSP00000350495, OTTHUMP00000015583, ENST00000357836, OTTHUMT00000038528
    Conserved Domains (2) summary
    pfam06534
    Location:117283
    Blast Score: 620
    RGM_C; Repulsive guidance molecule (RGM) C-terminus
    pfam06535
    Location:1113
    Blast Score: 370
    RGM_N; Repulsive guidance molecule (RGM) N-terminus
  2. NM_202004.3NP_973733.1  hemojuvelin isoform c

    See proteins identical to 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
    CCDS912.1
    UniProtKB/Swiss-Prot
    Q6ZVN8
    Related
    ENSP00000421820, OTTHUMP00000218198, ENST00000497365, OTTHUMT00000038529
    Conserved Domains (1) summary
    pfam06534
    Location:4170
    Blast Score: 623
    RGM_C; Repulsive guidance molecule (RGM) C-terminus
  3. NM_213652.3NP_998817.1  hemojuvelin isoform c

    See proteins identical to 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
    CCDS912.1
    UniProtKB/Swiss-Prot
    Q6ZVN8
    Related
    ENSP00000425716, OTTHUMP00000218199, ENST00000475797, OTTHUMT00000038530
    Conserved Domains (1) summary
    pfam06534
    Location:4170
    Blast Score: 623
    RGM_C; Repulsive guidance molecule (RGM) C-terminus
  4. NM_213653.3NP_998818.1  hemojuvelin isoform a precursor

    See proteins identical to 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
    CCDS910.1
    UniProtKB/Swiss-Prot
    Q6ZVN8
    Related
    ENSP00000337014, OTTHUMP00000015582, ENST00000336751, OTTHUMT00000038527
    Conserved Domains (2) summary
    pfam06534
    Location:230396
    Blast Score: 612
    RGM_C; Repulsive guidance molecule (RGM) C-terminus
    pfam06535
    Location:37226
    Blast Score: 593
    RGM_N; Repulsive guidance molecule (RGM) N-terminus

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

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

mRNA and Protein(s)

  1. XM_005272932.1XP_005272989.1  

    See proteins identical to XP_005272989.1

    UniProtKB/Swiss-Prot
    Q6ZVN8
    Conserved Domains (2) summary
    pfam06534
    Location:230396
    Blast Score: 612
    RGM_C; Repulsive guidance molecule (RGM) C-terminus
    pfam06535
    Location:37226
    Blast Score: 593
    RGM_N; Repulsive guidance molecule (RGM) N-terminus

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    119377356..119381710
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

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