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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)

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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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