Hjv hemojuvelin BMP co-receptor [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Hjvprovided by RGD
Official Full Name: hemojuvelin BMP co-receptorprovided by RGD
Primary source: RGD:1310195
See related: EnsemblRapid:ENSRNOG00000021200 AllianceGenome:RGD:1310195
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Hfe2; Rgmc
Summary: Predicted to enable BMP binding activity; coreceptor activity; and transferrin receptor binding activity. Predicted to contribute to BMP receptor activity. Predicted to be involved in several processes, including cellular iron ion homeostasis; protein autoprocessing; and transmembrane receptor protein serine/threonine kinase signaling pathway. Predicted to act upstream of or within iron ion homeostasis; negative regulation of BMP signaling pathway; and positive regulation of transcription by RNA polymerase II. Located in basolateral plasma membrane. 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 Muscle (RPKM 2533.9), Heart (RPKM 466.0) and 1 other tissue See more
Orthologs: human mouse all
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Genomic context

Location:: 2q34

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	2	NC_086020.1 (186754801..186758708)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	2	NC_051337.1 (184065944..184069851)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	2	NC_005101.4 (198655437..198659318)

Chromosome 2 - NC_086020.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Anti-hemojuvelin antibody corrects anemia caused by inappropriately high hepcidin levels.
Title: Anti-hemojuvelin antibody corrects anemia caused by inappropriately high hepcidin levels.
Expression levels of GDF-15, BMP6, and HJV genes increased in rats exposed to ischemia and reperfusion, but this increase was not statistically significant.
Title: The role of hepcidin and its related genes (BMP6, GDF-15, and HJV) in rats exposed to ischemia and reperfusion.
Matriptase-2- and proprotein convertase-cleaved forms of hemojuvelin have different roles in the down-regulation of hepcidin expression
Title: Matriptase-2- and proprotein convertase-cleaved forms of hemojuvelin have different roles in the down-regulation of hepcidin expression.
Phagocytosis upregulates hepcidin-gene expression and downregulates Hjv- and Fpn-1-gene expression within the liver.
Title: Phagocytosis of gadolinium chloride or zymosan induces simultaneous upregulation of hepcidin- and downregulation of hemojuvelin- and Fpn-1-gene expression in murine liver.
The results suggest that the HJV-neogenin interaction is required for the BMP-mediated induction of hepcidin expression when HJV is expressed.
Title: Hemojuvelin-neogenin interaction is required for bone morphogenic protein-4-induced hepcidin expression.
hemojuvelin(HFE2)& transferrin receptor type 2 were predominantly localized to hepatocyte basolateral membrane domain; localization of HFE2 & TfR2 at the same membrane domain renders a functional interaction of these proteins in iron homeostasis possible
Title: Localization of the iron-regulatory proteins hemojuvelin and transferrin receptor 2 to the basolateral membrane domain of hepatocytes.

Submit: New GeneRIF Correction

General gene information

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Markers

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

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables BMP binding	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
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
involved_in BMP signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within BMP signaling pathway	ISO Inferred from Sequence Orthology more info
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 biological_process	ND No biological Data available more info
involved_in cellular response to BMP stimulus	ISO Inferred from Sequence Orthology more info
involved_in intracellular iron ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in intracellular iron ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in multicellular organismal-level iron ion homeostasis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within multicellular organismal-level iron ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of BMP signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of BMP signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
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
involved_in transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
acts_upstream_of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info

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	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in extracellular space	IEA Inferred from Electronic Annotation more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation 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

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_001012080.2 → NP_001012080.1 hemojuvelin precursor

See identical proteins and their annotated locations for NP_001012080.1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000002

UniProtKB/Swiss-Prot

Q8N7M5

UniProtKB/TrEMBL

F7FBV5, Q5FWU4

Related

ENSRNOP00000028781.4, ENSRNOT00000028781.8

Conserved Domains (2) summary

pfam06534
Location:226 → 384

RGM_C; Repulsive guidance molecule (RGM) C-terminus

pfam06535
Location:37 → 221

RGM_N; Repulsive guidance molecule (RGM) N-terminus