HJV (hemojuvelin BMP co-receptor)

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HJV (hemojuvelin BMP co-receptor)

2018-02-01 Affiliation

Identity

HGNC

LOCATION

1q21.1

LOCUSID

ALIAS

HFE2,HFE2A,JH,RGMC

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000168509	ENST00000336751	Q6ZVN8
ENSG00000168509	ENST00000336751	A0A024R4F5
ENSG00000168509	ENST00000357836	Q6ZVN8
ENSG00000168509	ENST00000357836	A8K466
ENSG00000168509	ENST00000421822	F8W6J7
ENSG00000168509	ENST00000475797	Q6ZVN8
ENSG00000168509	ENST00000497365	Q6ZVN8
ENSG00000168509	ENST00000634927	A0A0U1RR55
ENSG00000168509	ENST00000636675	Q6ZVN8

Pathways

Pathway	Source	External ID
Developmental Biology	REACTOME	R-HSA-1266738
Axon guidance	REACTOME	R-HSA-422475
Netrin-1 signaling	REACTOME	R-HSA-373752

References

Pubmed ID	Year	Title	Citations
35225679	2022	Estimates of West African Ancestry in African Americans Using Alleles of Iron-Related Genes HJV, SLC40A1, and TFR2.	0
35225679	2022	Estimates of West African Ancestry in African Americans Using Alleles of Iron-Related Genes HJV, SLC40A1, and TFR2.	0
34946929	2021	New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.	1
34946929	2021	New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.	1
31307288	2020	The functional role of hemojuvelin in acute ischemic stroke.	6
31307288	2020	The functional role of hemojuvelin in acute ischemic stroke.	6
30389309	2019	Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis?	7
30884219	2019	Hemojuvelin is a novel suppressor for Duchenne muscular dystrophy and age-related muscle wasting.	15
30389309	2019	Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis?	7
30884219	2019	Hemojuvelin is a novel suppressor for Duchenne muscular dystrophy and age-related muscle wasting.	15
28130911	2018	Relationship of serum haemojuvelin and hepcidin levels with iron level and erythropoietin requirement in prevalent hepatitis C virus positive haemodialysis patients.	2
29386545	2018	Hemojuvelin Predicts Acute Kidney Injury and Poor Outcomes Following Cardiac Surgery.	3
30166352	2018	Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants.	17
28130911	2018	Relationship of serum haemojuvelin and hepcidin levels with iron level and erythropoietin requirement in prevalent hepatitis C virus positive haemodialysis patients.	2
29386545	2018	Hemojuvelin 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/teaching-explorer/js/lib/bootstrap.min.js