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Identification
HMDB Protein ID HMDBP08689
Secondary Accession Numbers
  • 14410
Name Hemojuvelin
Synonyms
  1. Hemochromatosis type 2 protein
  2. RGM domain family member C
Gene Name HFE2
Protein Type Unknown
Biological Properties
General Function Not Available
Specific Function Member of the repulsive guidance molecule (RGM) family. Involved in iron metabolism. Acts as a bone morphogenetic protein (BMP) coreceptor. Enhancement of BMP signaling regulates hepcidin (HAMP) expression and iron metabolism. May cooperate with hepcidin to restrict iron absorption in the gut. Could represent the cellular receptor for hepcidin
Pathways Not Available
Reactions Not Available
GO Classification Not Available
Cellular Location
  1. Cell membrane
  2. Lipid-anchor
  3. GPI-anchor
Gene Properties
Chromosome Location Chromosome:1
Locus 1q21.1
SNPs HFE2
Gene Sequence
>1281 bp
ATGGGGGAGCCAGGCCAGTCCCCTAGTCCCAGGTCCTCCCATGGCAGTCCCCCAACTCTA
AGCACTCTCACTCTCCTGCTGCTCCTCTGTGGACATGCTCATTCTCAATGCAAGATCCTC
CGCTGCAATGCTGAGTACGTATCGTCCACTCTGAGCCTTAGAGGTGGGGGTTCATCAGGA
GCACTTCGAGGAGGAGGAGGAGGAGGCCGGGGTGGAGGGGTGGGCTCTGGCGGCCTCTGT
CGAGCCCTCCGCTCCTATGCGCTCTGCACTCGGCGCACCGCCCGCACCTGCCGCGGGGAC
CTCGCCTTCCATTCGGCGGTACATGGCATCGAAGACCTGATGATCCAGCACAACTGCTCC
CGCCAGGGCCCTACAGCCCCTCCCCCGCCCCGGGGCCCCGCCCTTCCAGGCGCGGGCTCC
GGCCTCCCTGCCCCGGACCCTTGTGACTATGAAGGCCGGTTTTCCCGGCTGCATGGTCGT
CCCCCGGGGTTCTTGCATTGCGCTTCCTTCGGGGACCCCCATGTGCGCAGCTTCCACCAT
CACTTTCACACATGCCGTGTCCAAGGAGCTTGGCCTCTACTGGATAATGACTTCCTCTTT
GTCCAAGCCACCAGCTCCCCCATGGCGTTGGGGGCCAACGCTACCGCCACCCGGAAGCTC
ACCATCATATTTAAGAACATGCAGGAATGCATTGATCAGAAGGTGTATCAGGCTGAGGTG
GATAATCTTCCTGTAGCCTTTGAAGATGGTTCTATCAATGGAGGTGACCGACCTGGGGGA
TCCAGTTTGTCGATTCAAACTGCTAACCCTGGGAACCATGTGGAGATCCAAGCTGCCTAC
ATTGGCACAACTATAATCATTCGGCAGACAGCTGGGCAGCTCTCCTTCTCCATCAAGGTA
GCAGAGGATGTGGCCATGGCCTTCTCAGCTGAACAGGACCTGCAGCTCTGTGTTGGGGGG
TGCCCTCCAAGTCAGCGACTCTCTCGATCAGAGCGCAATCGTCGGGGAGCTATAACCATT
GATACTGCCAGACGGCTGTGCAAGGAAGGGCTTCCAGTGGAAGATGCTTACTTCCATTCC
TGTGTCTTTGATGTTTTAATTTCTGGTGATCCCAACTTTACCGTGGCAGCTCAGGCAGCA
CTGGAGGATGCCCGAGCCTTCCTGCCAGACTTAGAGAAGCTGCATCTCTTCCCCTCAGAT
GCTGGGGTTCCTCTTTCCTCAGCAACCCTCTTAGCTCCACTCCTTTCTGGGCTCTTTGTT
CTGTGGCTTTGCATTCAGTAA
Protein Properties
Number of Residues 426
Molecular Weight 45079.7
Theoretical pI 7.64
Pfam Domain Function
Signals
  • 1-35
Transmembrane Regions
  • None
Protein Sequence
>Hemojuvelin
MGEPGQSPSPRSSHGSPPTLSTLTLLLLLCGHAHSQCKILRCNAEYVSSTLSLRGGGSSG
ALRGGGGGGRGGGVGSGGLCRALRSYALCTRRTARTCRGDLAFHSAVHGIEDLMIQHNCS
RQGPTAPPPPRGPALPGAGSGLPAPDPCDYEGRFSRLHGRPPGFLHCASFGDPHVRSFHH
HFHTCRVQGAWPLLDNDFLFVQATSSPMALGANATATRKLTIIFKNMQECIDQKVYQAEV
DNLPVAFEDGSINGGDRPGGSSLSIQTANPGNHVEIQAAYIGTTIIIRQTAGQLSFSIKV
AEDVAMAFSAEQDLQLCVGGCPPSQRLSRSERNRRGAITIDTARRLCKEGLPVEDAYFHS
CVFDVLISGDPNFTVAAQAALEDARAFLPDLEKLHLFPSDAGVPLSSATLLAPLLSGLFV
LWLCIQ
GenBank ID Protein 47458048
UniProtKB/Swiss-Prot ID Q6ZVN8
UniProtKB/Swiss-Prot Entry Name RGMC_HUMAN
PDB IDs Not Available
GenBank Gene ID NM_213653.3
GeneCard ID HFE2
GenAtlas ID HFE2
HGNC ID HGNC:4887
References
General References
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  5. Babitt JL, Huang FW, Wrighting DM, Xia Y, Sidis Y, Samad TA, Campagna JA, Chung RT, Schneyer AL, Woolf CJ, Andrews NC, Lin HY: Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression. Nat Genet. 2006 May;38(5):531-9. Epub 2006 Apr 9. [PubMed:16604073 ]
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  7. Lee PL, Beutler E, Rao SV, Barton JC: Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. Blood. 2004 Jun 15;103(12):4669-71. Epub 2004 Feb 24. [PubMed:14982867 ]
  8. Lee PL, Barton JC, Brandhagen D, Beutler E: Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis. Br J Haematol. 2004 Oct;127(2):224-9. [PubMed:15461631 ]