HJV (hemojuvelin BMP co-receptor)

2018-02-01  

Identity

HGNC
HJV
LOCATION
1q21.1
LOCUSID
148738
ALIAS
HFE2,HFE2A,JH,RGMC

Other Information

Locus ID:

NCBI: 148738
MIM: 608374
HGNC: 4887
Ensembl: ENSG00000168509

Variants:

dbSNP: 148738
ClinVar: 148738
TCGA: ENSG00000168509
COSMIC: HJV

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168509ENST00000336751Q6ZVN8
ENSG00000168509ENST00000336751A0A024R4F5
ENSG00000168509ENST00000357836Q6ZVN8
ENSG00000168509ENST00000357836A8K466
ENSG00000168509ENST00000421822F8W6J7
ENSG00000168509ENST00000475797Q6ZVN8
ENSG00000168509ENST00000497365Q6ZVN8
ENSG00000168509ENST00000634927A0A0U1RR55
ENSG00000168509ENST00000636675Q6ZVN8

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
Netrin-1 signalingREACTOMER-HSA-373752

References

Pubmed IDYearTitleCitations
352256792022Estimates of West African Ancestry in African Americans Using Alleles of Iron-Related Genes HJV, SLC40A1, and TFR2.0
352256792022Estimates of West African Ancestry in African Americans Using Alleles of Iron-Related Genes HJV, SLC40A1, and TFR2.0
349469292021New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.1
349469292021New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.1
313072882020The functional role of hemojuvelin in acute ischemic stroke.6
313072882020The functional role of hemojuvelin in acute ischemic stroke.6
303893092019Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis?7
308842192019Hemojuvelin is a novel suppressor for Duchenne muscular dystrophy and age-related muscle wasting.15
303893092019Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis?7
308842192019Hemojuvelin is a novel suppressor for Duchenne muscular dystrophy and age-related muscle wasting.15
281309112018Relationship of serum haemojuvelin and hepcidin levels with iron level and erythropoietin requirement in prevalent hepatitis C virus positive haemodialysis patients.2
293865452018Hemojuvelin Predicts Acute Kidney Injury and Poor Outcomes Following Cardiac Surgery.3
301663522018Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants.17
281309112018Relationship of serum haemojuvelin and hepcidin levels with iron level and erythropoietin requirement in prevalent hepatitis C virus positive haemodialysis patients.2
293865452018Hemojuvelin Predicts Acute Kidney Injury and Poor Outcomes Following Cardiac Surgery.3

Citation

Dessen P

HJV (hemojuvelin BMP co-receptor)

Atlas Genet Cytogenet Oncol Haematol. 2018-02-01

Online version: http://atlasgeneticsoncology.org/gene/57375/js/lib/js/web-card-gene.js