Entity Details

Primary name HJV
Entity type gene
Source Source Link

Details

PrimaryID148738
RefseqGeneNG_011568
SymbolHJV
Namehemojuvelin BMP co-receptor
Chromosome1
Location1q21.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-01-22
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsRGMC_HUMAN

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0005102 signaling receptor binding
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0006879 cellular iron ion homeostasis
GO:0015026 coreceptor activity
GO:0016540 protein autoprocessing
GO:0030509 BMP signaling pathway
GO:0031225 anchored component of membrane
GO:0032924 activin receptor signaling pathway
GO:0036122 BMP binding
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0055072 iron ion homeostasis
GO:0070724 BMP receptor complex
GO:0071773 cellular response to BMP stimulus
GO:0098797 plasma membrane protein complex
GO:1990459 transferrin receptor binding
GO:1990712 HFE-transferrin receptor complex

Diseases

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Disease IDSourceNameDescription
602390 OMIMHemochromatosis 2A (HFE2A)A juvenile form of hemochromatosis, a disorder of iron metabolism with excess deposition of iron in a variety of organs leading to their failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of juvenile hemochromatosis at presentation are hypogonadism and cardiomyopathy. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
HJVNEO1bhf-ucl18335997 details
HJVBMP2bhf-ucl, DIP18335997 25938661 details
HJVTMBIM6BioGRID, IntAct32296183 details
HJVTMPRSS6IntAct18976966 19357398 20704562 details