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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for HFE2 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 148738 Official gene symbol HFE2 Full name hemochromatosis type 2 (juvenile) Aliases ,HFE2A,HJV,JH,MGC23953,RGMC, Gene summary The 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] Location Chromosome: 1   Locus: 1q21.1 Gene position 145413191 - 145417545  Map Viewer Gene orientation plus Gene size 4355 bp Gene sequence >HFE2:740778..745132:Length=4355 ACCGTCAACTCAGTAGCCACCTCCCTCCCTGCTCAGCTGTCCAGTACTCTGGCCAGCCAT ATACTCCCCCTTCCCCCCATACCAAACCTTCTCTGGTTCCCTGACCTCAGTGAGACAGCA GCCGGCCTGGGGACCTGGGGGAGACACGGAGGACCCCCTGGCTGGAGCTGACCCACAGAG TAGGGAATCATGGCTGGAGAATTGGATAGCAGAGTAATGTTTGACCTCTGGAAACAGTAA GTCAAAATGAAATTGCAATTCCTTTAATAAGCTTTTATATTGAAGTTAGACTTTTATAAA ATTACAAACACCTACTTGGATGTCTCTCGTCCAAATGCTGGGATCTCTCCCTACCAAGGT GCCCCAATCTCCATTTCTCTTTCTGTCTTATTTCTTTCTGGCCTCTGGCCTCTAGCTTTT TGAAGTTTAATTCTCTGTCTCTCCTCTGGCAGTCTTAGCCCTCTCTTTACCTTATTACCT CAAGACTCCTGATGAAGTTTTAGAAGGAGTTCCCTACGTCCTCTATTCTGTAGTTTTCTT ACCAAGGCCAAATATGACCTCAGATGATGAGTCACTGATACCCTTCTATCCTGCCCCCAC TTAGCAATGCCCTTCACATTGAGATTCCAAGCATGGGGGCTGCTCCCTGTAAATGATTTC TCCCCACAACTCTAGTCCCTCCATTCTATTCTCCCTCTTGCAGGACTCTTCCCCCAATCA TATCCTTACCCATAAGATAGGGGAGTTAGGCAGGAGGGATTTAGCCCCTCTCCAACTCCT GTCATCATAAAAGACTGAGAACTTCAGAATTTGAAAAGAAGAGATTAATGGAAGGAGTGA TATTTGGGAAAATACAAGAACTGTTGACTTAGAAAAAACAAATATTGATTTGCATGTTTG GTTTGCATCCCATTATTCCATGAGAGAGGGAGATTAAAATTGCAGCTCTCTAGAGCTGAT GAAAAGAGATTGGTTTCCTTTTCATTTGAATACTGATATTCTAGACGGGATGGGTATGCC ACCCTTAATCCTTCTTGTGTTCTGACACAAAGGAGGAAAAGAAATGTATGACTCCTAGAG GGCATCTCCTCCTAATGGAGAGGGACAAATAAGAAGTATGTTTCTGAAATATTTTCAGGT CCTAATTTTACTAGGGTACCCACTAGGATTACTGGTATCTGATCTAGCCCCATGATTCCT CCATCTTTGACATACCTGCTGTTTGGTAGCTCAGAATGGAGCAATACAGTGGACTCTGCC CCCTTGAGTTCACTCAACCTTCCCTCCACCCCCACCTAGGGGTATTGCACAAGGGCCCTA AAAGTGGCCACAGGAACAGGGCAAAGAGGCTTAACTGCCACACTTATAGTTTGAGGAACT CCAATCTCCCCAAATTCCAGTCTGTTCATCCTTTTCTTGATCTCCCCAGATTCACTCCAC ATTATCCTTACCAATCTTCAATTCTTCTCTCTCTCCATGTCCAGCCAAATTTCTTTTTTC AGTCACTTACAGGGCTTCCGGTCAAAATTCACTAGGTAGGAGGGTCATCAGCTGGGAAGA ACCGGCGCCTGGGAAACCTGGCTGGATAGGTATGGGGGAGCCAGGCCAGTCCCCTAGTCC CAGGTCCTCCCATGGCAGTCCCCCAACTCTAAGCACTCTCACTCTCCTGCTGCTCCTCTG TGGACATGGTAAGGAAGGGCCAGGGAAGGGTTTGGGGAAATCTAGAGGGTAGGCTGCTAT GTAGGGGTGGGCATGTGAGCCTGAATGAGTGAGGAGAGATAGGCGCTGAGAGTCCCGATC ACTCGCCCTGCTCTCAAATACTAATATTTTATTTCCCGTTCAGTCTGGGGAAGGCCACTG GGGAAGCCCTTGGTCGACAGGCAGAAGAGATGTGGCAGGCTTACACACTTTTAGTAAGAC AGCCGAGAGAACTAGGGACTAGGGGGTTGGGGGCTGGGGAAGGCCCTTAGTTAGGTTTTA GGAAGGCTGGAAACCCCTGATGAGATTTGGAAGAGTTATGAGCAAACTACACTCCGATAG AGCAGAGGTCTGAGGACCGTCTCACAATCCTCTCCCTTCTGTCTTTAGCTCATTCTCAAT GCAAGATCCTCCGCTGCAATGCTGAGTACGTATCGTCCACTCTGAGCCTTAGAGGTGGGG GTTCATCAGGAGCACTTCGAGGAGGAGGAGGAGGAGGCCGGGGTGGAGGGGTGGGCTCTG GCGGCCTCTGTCGAGCCCTCCGCTCCTATGCGCTCTGCACTCGGCGCACCGCCCGCACCT GCCGCGGGGACCTCGCCTTCCATTCGGCGGTACATGGCATCGAAGACCTGATGATCCAGC ACAACTGCTCCCGCCAGGGCCCTACAGCCCCTCCCCCGCCCCGGGGCCCCGCCCTTCCAG GCGCGGGCTCCGGCCTCCCTGCCCCGGACCCTTGTGACTATGAAGGCCGGTTTTCCCGGC TGCATGGTCGTCCCCCGGGGTTCTTGCATTGCGCTTCCTTCGGGGACCCCCATGTGCGCA GCTTCCACCATCACTTTCACACATGCCGTGTCCAAGGAGCTTGGCCTCTACTGGATAATG ACTTCCTCTTTGTCCAAGCCACCAGCTCCCCCATGGCGTTGGGGGCCAACGCTACCGCCA CCCGGAAGGTCAGGCACTCAATCTTCCTTCCGATCCACCTCATGAGATTCTTCCACGGGC ACCATTCCTCCCCATCCCCACTATTCAACAGCAATGCTCCCTAATTCCCTTTTCTTCCTC AACCTCTCCCCCATCTCGAATCACTCCCTTCTACCAAACACCTGGAGCTGTAAATCACTT CCCCTTGATGGGAATTTGACTCAAATGCAGAAAACCTTGAAGAGACAGTCGGAGAGGGCG GACCTGAGGAGTTTCAGAAGGGAAACTTTTCCCTCTCCTAGGAAGTTGCCACGATTAAGT AGAGAGGGGGTTAAGTAGGGATGAGGTAATACTGGAACATAAATAGGAGAAGGGATCAAG GATTGAGGGCCATAGTAGTCCTGCATCTCTACTTGGATCAGATCTCTAACTATGTATGAG GTCTGATTGGGGGGAAGATGCACTGAACCCAAAATGAACTGTTTTCCCTCTTGTCCTCAC AGCTCACCATCATATTTAAGAACATGCAGGAATGCATTGATCAGAAGGTGTATCAGGCTG AGGTGGATAATCTTCCTGTAGCCTTTGAAGATGGTTCTATCAATGGAGGTGACCGACCTG GGGGATCCAGTTTGTCGATTCAAACTGCTAACCCTGGGAACCATGTGGAGATCCAAGCTG CCTACATTGGCACAACTATAATCATTCGGCAGACAGCTGGGCAGCTCTCCTTCTCCATCA AGGTAGCAGAGGATGTGGCCATGGCCTTCTCAGCTGAACAGGACCTGCAGCTCTGTGTTG GGGGGTGCCCTCCAAGTCAGCGACTCTCTCGATCAGAGCGCAATCGTCGGGGAGCTATAA CCATTGATACTGCCAGACGGCTGTGCAAGGAAGGGCTTCCAGTGGAAGATGCTTACTTCC ATTCCTGTGTCTTTGATGTTTTAATTTCTGGTGATCCCAACTTTACCGTGGCAGCTCAGG CAGCACTGGAGGATGCCCGAGCCTTCCTGCCAGACTTAGAGAAGCTGCATCTCTTCCCCT CAGATGCTGGGGTTCCTCTTTCCTCAGCAACCCTCTTAGCTCCACTCCTTTCTGGGCTCT TTGTTCTGTGGCTTTGCATTCAGTAAGGGGACCATCAGTCCCATTACTAGTTTGGAAATG ATTTGGAGATACAGATTGGCATAGAAGAATGTAAAGAATCATTAAAGGAAGCAGGGCCTA GGAGACACGTGAAACAATGACATTATCCAGAGTCAGATGAGGCTGCAGTCCAGGGTTGAA ATTATCACAGAATAAGGATTCTGGGCAAGGTTACTGCATTCCGGATCTCTGTGGGGCTCT TCACCAATTTTTCCAGCCTCATTTATAGTAAACAAATTGTTCTAATCCATTTACTGCAGA TTTCACCCTTATAAGTTTAGAGGTCATGAAGGTTTTAATGATCAGTAAAGATTTAAGGGT TGAGATTTTTAAGAGGCAAGAGCTGAAAGCAGAAGACATGATCATTAGCCATAAGAAACT CAAAGGAGGAAGACATAATTAGGGAAAGAAGTCTATTTGATGAATATGTGTGTGTAAGGT ATGTTCTGCTTTCTTGATTCAAAAATGAAGCAGGCATTGTCTAGCTCTTAGGTGAAGGGA GTCTCTGCTTTTGAAGAATGGCACAGGTAGGACAGAAGTATCATCCCTACCCCCTAACTA ATCTGTTATTAAAGCTACAAATTCTTCACACCATC OMIM ID 608374