Hjv hemojuvelin BMP co-receptor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hjvprovided by MGI
Official Full Name: hemojuvelin BMP co-receptorprovided by MGI
Primary source: MGI:MGI:1916835
See related: Ensembl:ENSMUSG00000038403 AllianceGenome:MGI:1916835
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: DL-M; Hfe2; Rgmc; hemojuvelin; 2310035L15Rik; 5230400G09Rik
Summary: Enables BMP binding activity and coreceptor activity. Involved in cellular iron ion homeostasis and negative regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including BMP signaling pathway; iron ion homeostasis; and negative regulation of BMP signaling pathway. Located in cell surface and extracellular space. Is expressed in several structures, including gonad; musculature; submandibular gland; trunk mesenchyme; and yolk sac. Used to study hemochromatosis type 2A. Human ortholog(s) of this gene implicated in hemochromatosis and hemochromatosis type 2A. Orthologous to human HJV (hemojuvelin BMP co-receptor). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in heart adult (RPKM 77.5), liver adult (RPKM 38.7) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 F2.1; 3 41.91 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (96432479..96436532)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (96525163..96529216)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The liver and muscle secreted HFE2-protein maintains central nervous system blood vessel integrity.
Title: The liver and muscle secreted HFE2-protein maintains central nervous system blood vessel integrity.
Genetic Iron Overload Hampers Development of Cutaneous Leishmaniasis in Mice.
Title: Genetic Iron Overload Hampers Development of Cutaneous Leishmaniasis in Mice.
Hepatocyte neogenin is required for hemojuvelin-mediated hepcidin expression and iron homeostasis in mice.
Title: Hepatocyte neogenin is required for hemojuvelin-mediated hepcidin expression and iron homeostasis in mice.
Matriptase-2 and Hemojuvelin in Hepcidin Regulation: In Vivo Immunoblot Studies in Mask Mice.
Title: Matriptase-2 and Hemojuvelin in Hepcidin Regulation: In Vivo Immunoblot Studies in Mask Mice.
The functional role of hemojuvelin in acute ischemic stroke.
Title: The functional role of hemojuvelin in acute ischemic stroke.
Hjv was significantly downregulated in the muscles of mdx mice as well as in those of aged mice. Overexpression of Hjv rescued dystrophic and age-related muscle wasting. Mechanistically, loss of Hjv promoted activation of Smad3 signalling induced by TGF-beta1, whereas Hjv overexpression inhibited TGF-beta1/Smad3 signalling by directly interacting with TbetaRII on the muscle membrane.
Title: Hemojuvelin is a novel suppressor for Duchenne muscular dystrophy and age-related muscle wasting.
We conclude that Hjv is required for inflammatory induction of hepcidin and controls the acute hypoferremic response
Title: Hepcidin-mediated hypoferremic response to acute inflammation requires a threshold of Bmp6/Hjv/Smad signaling.
Anti-hemojuvelin antibody corrects anemia caused by inappropriately high hepcidin levels
Title: Anti-hemojuvelin antibody corrects anemia caused by inappropriately high hepcidin levels.
These data suggest that, in Hjv(-/-) females, Bmp6 can provide a signal adequate to maintain hepcidin to a level sufficient to avoid extrahepatic iron loading.
Title: Deletion of BMP6 worsens the phenotype of HJV-deficient mice and attenuates hepcidin levels reached after LPS challenge.
The results provide support for the interaction between TMPRSS6 and hemojuvelin in vivo; they also suggest that hemojuvelin could be cleaved by another as yet unknown protease in the absence of functional TMPRSS6.
Title: Effect of erythropoietin administration on proteins participating in iron homeostasis in Tmprss6-mutated mask mice.

Submit: New GeneRIF Correction See all GeneRIFs (43)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (6) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Hfe2 (e-PCR), detects polymorphism
- UniSTS:508011

AI414844 (e-PCR)
- UniSTS:159155

AI789733 (e-PCR)
- UniSTS:178894

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables BMP binding	IDA Inferred from Direct Assay more info	PubMed
enables BMP binding	IPI Inferred from Physical Interaction more info	PubMed
enables BMP binding	ISO Inferred from Sequence Orthology more info
contributes_to BMP receptor activity	ISO Inferred from Sequence Orthology more info
enables coreceptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables coreceptor activity	IGI Inferred from Genetic Interaction more info	PubMed
enables coreceptor activity	ISO Inferred from Sequence Orthology more info
enables signaling receptor binding	ISO Inferred from Sequence Orthology more info
enables transferrin receptor binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within BMP signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in BMP signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in activin receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in cellular response to BMP stimulus	ISO Inferred from Sequence Orthology more info
involved_in intracellular iron ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organismal-level iron ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organismal-level iron ion homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of BMP signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in protein autoprocessing	ISO Inferred from Sequence Orthology more info
acts_upstream_of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of BMP receptor complex	ISO Inferred from Sequence Orthology more info
part_of HFE-transferrin receptor complex	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of plasma membrane protein complex	ISO Inferred from Sequence Orthology more info
located_in side of membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: hemojuvelin

Names: RGM domain family member C; hemochromatosis type 2 (juvenile) (human homolog); hemochromatosis type 2 protein homolog; 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.

mRNA and Protein(s)

NM_001429153.1 → NP_001416082.1 hemojuvelin precursor

Status: VALIDATED

Source sequence(s)

AC122037
NM_027126.5 → NP_081402.3 hemojuvelin precursor

See identical proteins and their annotated locations for NP_081402.3

Status: VALIDATED

Source sequence(s)

AC122037

Consensus CDS

CCDS51003.1

UniProtKB/Swiss-Prot

Q7TQ32, Q8CEU7, Q8K1D4, Q9D741

Related

ENSMUSP00000046659.10, ENSMUST00000049208.11

Conserved Domains (2) summary

pfam06534
Location:223 → 381

RGM_C; Repulsive guidance molecule (RGM) C-terminus

pfam06535
Location:34 → 218

RGM_N; Repulsive guidance molecule (RGM) N-terminus

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000069.7 Reference GRCm39 C57BL/6J

Range

96432479..96436532

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036163296.1 → XP_036019189.1 hemojuvelin isoform X1

UniProtKB/Swiss-Prot

Q7TQ32, Q8CEU7, Q8K1D4, Q9D741

Conserved Domains (2) summary

pfam06534
Location:223 → 381

RGM_C; Repulsive guidance molecule (RGM) C-terminus

pfam06535
Location:34 → 218

RGM_N; Repulsive guidance molecule (RGM) N-terminus
XM_006502037.3 → XP_006502100.1 hemojuvelin isoform X1

UniProtKB/Swiss-Prot

Q7TQ32, Q8CEU7, Q8K1D4, Q9D741

Conserved Domains (2) summary

pfam06534
Location:223 → 381

RGM_C; Repulsive guidance molecule (RGM) C-terminus

pfam06535
Location:34 → 218

RGM_N; Repulsive guidance molecule (RGM) N-terminus