MGP Database

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MGP006639

Record overview

MGPD IDMGP006639
Gene ID148738
SpeciesHomo sapiens (Human)
Gene Namehemochromatosis type 2 (juvenile)
Gene Symbol HFE2
SynonymsJH; HJV; RGMC; HFE2A;
Alternate nameshemojuvelin; RGM domain family member C; haemojuvelin; hemochromatosis type 2 protein; repulsive guidance molecule c;
Chromosome1
Map Location1q21.1
SummaryThe product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for HFE2

Proteins

hemojuvelin isoform a precursor
Refseq ID:NP_998818
Protein GI:47458048
UniProt ID:Q6ZVN8
mRNA ID:NM_213653
Length:426
RefSeq Status:
MGEPGQSPSPRSSHGSPPTLSTLTLLLLLCGHAHSQCKILRCNAEYVSSTLSLRGGGSSGALRGGGGGGRGGGVGSGGLCRALRSYALCTRRTARTCRGD
LAFHSAVHGIEDLMIQHNCSRQGPTAPPPPRGPALPGAGSGLPAPDPCDYEGRFSRLHGRPPGFLHCASFGDPHVRSFHHHFHTCRVQGAWPLLDNDFLF
VQATSSPMALGANATATRKLTIIFKNMQECIDQKVYQAEVDNLPVAFEDGSINGGDRPGGSSLSIQTANPGNHVEIQAAYIGTTIIIRQTAGQLSFSIKV
AEDVAMAFSAEQDLQLCVGGCPPSQRLSRSERNRRGAITIDTARRLCKEGLPVEDAYFHSCVFDVLISGDPNFTVAAQAALEDARAFLPDLEKLHLFPSD
AGVPLSSATLLAPLLSGLFVLWLCIQ
 
sig_peptide: 1..35
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 3567
peptide sequence: 
MGEPGQSPSPRSSHGSPPTLSTLTLLLLLCGHAHS

mat_peptide: 36..426
product: hemojuvelin isoform a
calculated_mol_wt: 41531
peptide sequence: 
QCKILRCNAEYVSSTLSLRGGGSSGALRGGGGGGRGGGVGSGGLCRALRSYALCTRRTARTCRGDLAFHSAVHGIEDLMIQHNCSRQGPTAPPPPRGPAL
PGAGSGLPAPDPCDYEGRFSRLHGRPPGFLHCASFGDPHVRSFHHHFHTCRVQGAWPLLDNDFLFVQATSSPMALGANATATRKLTIIFKNMQECIDQKV
YQAEVDNLPVAFEDGSINGGDRPGGSSLSIQTANPGNHVEIQAAYIGTTIIIRQTAGQLSFSIKVAEDVAMAFSAEQDLQLCVGGCPPSQRLSRSERNRR
GAITIDTARRLCKEGLPVEDAYFHSCVFDVLISGDPNFTVAAQAALEDARAFLPDLEKLHLFPSDAGVPLSSATLLAPLLSGLFVLWLCIQ
 
hemojuvelin isoform b
Refseq ID:NP_660320
Protein GI:44662823
UniProt ID:Q6ZVN8
mRNA ID:NM_145277
Length:313
RefSeq Status:
MIQHNCSRQGPTAPPPPRGPALPGAGSGLPAPDPCDYEGRFSRLHGRPPGFLHCASFGDPHVRSFHHHFHTCRVQGAWPLLDNDFLFVQATSSPMALGAN
ATATRKLTIIFKNMQECIDQKVYQAEVDNLPVAFEDGSINGGDRPGGSSLSIQTANPGNHVEIQAAYIGTTIIIRQTAGQLSFSIKVAEDVAMAFSAEQD
LQLCVGGCPPSQRLSRSERNRRGAITIDTARRLCKEGLPVEDAYFHSCVFDVLISGDPNFTVAAQAALEDARAFLPDLEKLHLFPSDAGVPLSSATLLAP
LLSGLFVLWLCIQ
 
hemojuvelin isoform c
Refseq ID:NP_973733
Protein GI:42544157
UniProt ID:Q6ZVN8
mRNA ID:NM_202004
Length:200
RefSeq Status:
MQECIDQKVYQAEVDNLPVAFEDGSINGGDRPGGSSLSIQTANPGNHVEIQAAYIGTTIIIRQTAGQLSFSIKVAEDVAMAFSAEQDLQLCVGGCPPSQR
LSRSERNRRGAITIDTARRLCKEGLPVEDAYFHSCVFDVLISGDPNFTVAAQAALEDARAFLPDLEKLHLFPSDAGVPLSSATLLAPLLSGLFVLWLCIQ
 
hemojuvelin isoform c
Refseq ID:NP_998817
Protein GI:47458050
UniProt ID:Q6ZVN8
mRNA ID:NM_213652
Length:200
RefSeq Status:
Protein sequence is identical to GI:42544157 (mRNA isoform)
 
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