HJV
entrez
148738
canonical
uniprot
Q6ZVN8
canonical
ensembl
ENSG00000168509
resolver
ensp
ENSP00000337014
resolver
ensp
ENSP00000350495
resolver
ensp
ENSP00000421820
resolver
ensp
ENSP00000425716
resolver
ensp
ENSP00000554096
resolver
genesymbol
HJV
resolver
genesymbol_syn
HFE2
resolver
genesymbol_syn
RGMC
resolver
hgnc
HGNC:4887
resolver
uniprot
A8K466
resolver
uniprot
B1ALI7
resolver
uniprot
Q2PQ63
resolver
uniprot
Q6IMF6
resolver
uniprot
Q8NAH2
resolver
uniprot
Q8WVJ5
resolver
uniprot_entry
A8K466_HUMAN
resolver
uniprot_entry
RGMC_HUMAN
resolver
uniprot_sec
B1ALI7
resolver
uniprot_sec
Q2PQ63
resolver
uniprot_sec
Q6IMF6
resolver
uniprot_sec
Q8NAH2
resolver
uniprot_sec
Q8WVJ5
resolver
amino_acid_sequence
MGEPGQSPSPRSSHGSPPTLSTLTLLLLLCGHAHSQCKILRCNAEYVSSTLSLRGGGSSGALRGGGGGGRGGGVGSGGLCRALRSYALCTRRTARTCRGDLAFHSAVHGIEDLMIQHNCSRQGPTAPPPPRGPALPGAGSGLPAPDPCDYEGRFSRLHGRPPGFLHCASFGDPHVRSFHHHFHTCRVQGAWPLLDNDFLFVQATSSPMALGANATATRKLTIIFKNMQECIDQKVYQAEVDNLPVAFEDGSINGGDRPGGSSLSIQTANPGNHVEIQAAYIGTTIIIRQTAGQLSFSIKVAEDVAMAFSAEQDLQLCVGGCPPSQRLSRSERNRRGAITIDTARRLCKEGLPVEDAYFHSCVFDVLISGDPNFTVAAQAALEDARAFLPDLEKLHLFPSDAGVPLSSATLLAPLLSGLFVLWLCIQ
uniprot
proteins
disease_involvement
DISEASE: Hemochromatosis 2A (HFE2A) [MIM:602390]: 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. {ECO:0000269|PubMed:14647275, ECO:0000269|PubMed:14982867, ECO:0000269|PubMed:14982873, ECO:0000269|PubMed:15461631}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as a bone morphogenetic protein (BMP) coreceptor (PubMed:18976966). Through enhancement of BMP signaling regulates hepcidin (HAMP) expression and regulates iron homeostasis (PubMed:18976966). {ECO:0000269|PubMed:18976966}.
uniprot
proteins
mass_dalton
45080
uniprot
proteins
post_translational_modification
PTM: Autocatalytically cleaved at low pH; the two chains remain linked via two disulfide bonds (PubMed:25156943). Also proteolytically processed by TMPRSS6, several fragments being released in the extracellular space; regulates HJV activity in BMP signaling and thefore iron homeostasis (PubMed:18976966, PubMed:25156943). {ECO:0000269|PubMed:18976966, ECO:0000269|PubMed:25156943}.
uniprot
proteins
protein_family
Repulsive guidance molecule (RGM) family
uniprot
proteins
pubmed
14647275
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14982867
uniprot
proteins
pubmed
14982873
uniprot
proteins
pubmed
15461631
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16604073
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18976966
uniprot
proteins
pubmed
19357398
uniprot
proteins
pubmed
25156943
uniprot
proteins
sequence_length
426
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}. Note=Also released in the extracellular space. {ECO:0000269|PubMed:25156943}.
uniprot
proteins