Homo sapiens (human): 148738 Help Entry 148738            CDS       T01001                                  Symbol HJV, HFE2, HFE2A, JH, RGMC Name (RefSeq) hemojuvelin BMP co-receptor   KO K23100   hemojuvelin Organism hsa  Homo sapiens (human) Pathway hsa04350   TGF-beta signaling pathway Network nt06507  TGFB signaling   Element N01461   BMP-HAMP signaling pathway, auxiliary factor Disease H00211   Hemochromatosis Brite KEGG Orthology (KO) [BR:hsa00001]  09130 Environmental Information Processing   09132 Signal transduction    04350 TGF-beta signaling pathway     148738 (HJV) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  RGM_N RGM_C RhlB Motif Other DBs NCBI-GeneID:  148738 NCBI-ProteinID:  NP_998818 OMIM:  608374 HGNC:  4887 Ensembl:  ENSG00000168509 UniProt:  Q6ZVN8 Structure PDB LinkDB All DBs Position 1:complement(146017470..146021735) Genome browser AA seq 426 aa AA seqDB search MGEPGQSPSPRSSHGSPPTLSTLTLLLLLCGHAHSQCKILRCNAEYVSSTLSLRGGGSSG ALRGGGGGGRGGGVGSGGLCRALRSYALCTRRTARTCRGDLAFHSAVHGIEDLMIQHNCS RQGPTAPPPPRGPALPGAGSGLPAPDPCDYEGRFSRLHGRPPGFLHCASFGDPHVRSFHH HFHTCRVQGAWPLLDNDFLFVQATSSPMALGANATATRKLTIIFKNMQECIDQKVYQAEV DNLPVAFEDGSINGGDRPGGSSLSIQTANPGNHVEIQAAYIGTTIIIRQTAGQLSFSIKV AEDVAMAFSAEQDLQLCVGGCPPSQRLSRSERNRRGAITIDTARRLCKEGLPVEDAYFHS CVFDVLISGDPNFTVAAQAALEDARAFLPDLEKLHLFPSDAGVPLSSATLLAPLLSGLFV LWLCIQ NT seq 1281 nt NT seq  +upstreamnt  +downstreamnt atgggggagccaggccagtcccctagtcccaggtcctcccatggcagtcccccaactcta agcactctcactctcctgctgctcctctgtggacatgctcattctcaatgcaagatcctc cgctgcaatgctgagtacgtatcgtccactctgagccttagaggtgggggttcatcagga gcacttcgaggaggaggaggaggaggccggggtggaggggtgggctctggcggcctctgt cgagccctccgctcctatgcgctctgcactcggcgcaccgcccgcacctgccgcggggac ctcgccttccattcggcggtacatggcatcgaagacctgatgatccagcacaactgctcc cgccagggccctacagcccctcccccgccccggggccccgcccttccaggcgcgggctcc ggcctccctgccccggacccttgtgactatgaaggccggttttcccggctgcatggtcgt cccccggggttcttgcattgcgcttccttcggggacccccatgtgcgcagcttccaccat cactttcacacatgccgtgtccaaggagcttggcctctactggataatgacttcctcttt gtccaagccaccagctcccccatggcgttgggggccaacgctaccgccacccggaagctc accatcatatttaagaacatgcaggaatgcattgatcagaaggtgtatcaggctgaggtg gataatcttcctgtagcctttgaagatggttctatcaatggaggtgaccgacctggggga tccagtttgtcgattcaaactgctaaccctgggaaccatgtggagatccaagctgcctac attggcacaactataatcattcggcagacagctgggcagctctccttctccatcaaggta gcagaggatgtggccatggccttctcagctgaacaggacctgcagctctgtgttgggggg tgccctccaagtcagcgactctctcgatcagagcgcaatcgtcggggagctataaccatt gatactgccagacggctgtgcaaggaagggcttccagtggaagatgcttacttccattcc tgtgtctttgatgttttaatttctggtgatcccaactttaccgtggcagctcaggcagca ctggaggatgcccgagccttcctgccagacttagagaagctgcatctcttcccctcagat gctggggttcctctttcctcagcaaccctcttagctccactcctttctgggctctttgtt ctgtggctttgcattcagtaa

Homo sapiens (human): 3077 Help Entry 3077              CDS       T01001                                  Symbol HFE, HFE1, HH, HLA-H, MVCD7, TFQTL2 Name (RefSeq) homeostatic iron regulator   KO K26535   hereditary hemochromatosis protein Organism hsa  Homo sapiens (human) Pathway hsa04350   TGF-beta signaling pathway Network nt06507  TGFB signaling   Element N01461   BMP-HAMP signaling pathway, auxiliary factor Disease H00211   Hemochromatosis H02559   Microvascular complications of diabetes Brite KEGG Orthology (KO) [BR:hsa00001]  09130 Environmental Information Processing   09132 Signal transduction    04350 TGF-beta signaling pathway     3077 (HFE) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  MHC_I C1-set MHC_I_3 Ig_2 Insulin_TMD Orf78 Motif Other DBs NCBI-GeneID:  3077 NCBI-ProteinID:  NP_000401 OMIM:  613609 HGNC:  4886 Ensembl:  ENSG00000010704 UniProt:  Q30201 Structure PDB LinkDB All DBs Position 6:26087429..26098343 Genome browser AA seq 348 aa AA seqDB search MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVF YDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQV ILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLEWERHKIRARQNR AYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWL KDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPS PSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAERE NT seq 1047 nt NT seq  +upstreamnt  +downstreamnt atgggcccgcgagccaggccggcgcttctcctcctgatgcttttgcagaccgcggtcctg caggggcgcttgctgcgttcacactctctgcactacctcttcatgggtgcctcagagcag gaccttggtctttccttgtttgaagctttgggctacgtggatgaccagctgttcgtgttc tatgatcatgagagtcgccgtgtggagccccgaactccatgggtttccagtagaatttca agccagatgtggctgcagctgagtcagagtctgaaagggtgggatcacatgttcactgtt gacttctggactattatggaaaatcacaaccacagcaaggagtcccacaccctgcaggtc atcctgggctgtgaaatgcaagaagacaacagtaccgagggctactggaagtacgggtat gatgggcaggaccaccttgaattctgccctgacacactggattggagagcagcagaaccc agggcctggcccaccaagctggagtgggaaaggcacaagattcgggccaggcagaacagg gcctacctggagagggactgccctgcacagctgcagcagttgctggagctggggagaggt gttttggaccaacaagtgcctcctttggtgaaggtgacacatcatgtgacctcttcagtg accactctacggtgtcgggccttgaactactacccccagaacatcaccatgaagtggctg aaggataagcagccaatggatgccaaggagttcgaacctaaagacgtattgcccaatggg gatgggacctaccagggctggataaccttggctgtaccccctggggaagagcagagatat acgtgccaggtggagcacccaggcctggatcagcccctcattgtgatctgggagccctca ccgtctggcaccctagtcattggagtcatcagtggaattgctgtttttgtcgtcatcttg ttcattggaattttgttcataatattaaggaagaggcagggttcaagaggagccatgggg cactacgtcttagctgaacgtgagtga

Homo sapiens (human): 7036 Help Entry 7036              CDS       T01001                                  Symbol TFR2, HFE3, TFRC2 Name (RefSeq) transferrin receptor 2   KO K23910   transferrin receptor protein 2 Organism hsa  Homo sapiens (human) Pathway hsa04350   TGF-beta signaling pathway Network nt06507  TGFB signaling   Element N01461   BMP-HAMP signaling pathway, auxiliary factor Disease H00211   Hemochromatosis Brite KEGG Orthology (KO) [BR:hsa00001]  09130 Environmental Information Processing   09132 Signal transduction    04350 TGF-beta signaling pathway     7036 (TFR2)  09180 Brite Hierarchies   09181 Protein families: metabolism    01002 Peptidases and inhibitors [BR:hsa01002]     7036 (TFR2) Peptidases and inhibitors [BR:hsa01002]  Metallo peptidases   Family M28: aminopeptidase Y family    7036 (TFR2) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  Peptidase_M28 PA TFR_dimer Motif Other DBs NCBI-GeneID:  7036 NCBI-ProteinID:  NP_003218 OMIM:  604720 HGNC:  11762 Ensembl:  ENSG00000106327 UniProt:  Q9UP52 LinkDB All DBs Position 7:complement(100620420..100641552) Genome browser AA seq 801 aa AA seqDB search MERLWGLFQRAQQLSPRSSQTVYQRVEGPRKGHLEEEEEDGEEGAETLAHFCPMELRGPE PLGSRPRQPNLIPWAAAGRRAAPYLVLTALLIFTGAFLLGYVAFRGSCQACGDSVLVVSE DVNYEPDLDFHQGRLYWSDLQAMFLQFLGEGRLEDTIRQTSLRERVAGSAGMAALTQDIR AALSRQKLDHVWTDTHYVGLQFPDPAHPNTLHWVDEAGKVGEQLPLEDPDVYCPYSAIGN VTGELVYAHYGRPEDLQDLRARGVDPVGRLLLVRVGVISFAQKVTNAQDFGAQGVLIYPE PADFSQDPPKPSLSSQQAVYGHVHLGTGDPYTPGFPSFNQTQFPPVASSGLPSIPAQPIS ADIASRLLRKLKGPVAPQEWQGSLLGSPYHLGPGPRLRLVVNNHRTSTPINNIFGCIEGR SEPDHYVVIGAQRDAWGPGAAKSAVGTAILLELVRTFSSMVSNGFRPRRSLLFISWDGGD FGSVGSTEWLEGYLSVLHLKAVVYVSLDNAVLGDDKFHAKTSPLLTSLIESVLKQVDSPN HSGQTLYEQVVFTNPSWDAEVIRPLPMDSSAYSFTAFVGVPAVEFSFMEDDQAYPFLHTK EDTYENLHKVLQGRLPAVAQAVAQLAGQLLIRLSHDRLLPLDFGRYGDVVLRHIGNLNEF SGDLKARGLTLQWVYSARGDYIRAAEKLRQEIYSSEERDERLTRMYNVRIMRVEFYFLSQ YVSPADSPFRHIFMGRGDHTLGALLDHLRLLRSNSSGTPGATSSTGFQESRFRRQLALLT WTLQGAANALSGDVWNIDNNF NT seq 2406 nt NT seq  +upstreamnt  +downstreamnt atggagcggctttggggtctattccagagagcgcaacaactgtccccaagatcctctcag accgtctaccagcgtgtggaaggcccccggaaagggcacctggaggaggaagaggaagac ggggaggagggggcggagacattggcccacttctgccccatggagctgaggggccctgag cccctgggctctagacccaggcagccaaacctcattccctgggcggcagcaggacggagg gctgccccctacctggtcctgacggccctgctgatcttcactggggccttcctactgggc tacgtcgccttccgagggtcctgccaggcgtgcggagactctgtgttggtggtcagtgag gatgtcaactatgagcctgacctggatttccaccagggcagactctactggagcgacctc caggccatgttcctgcagttcctgggggaggggcgcctggaggacaccatcaggcaaacc agccttcgggaacgggtggcaggctcggccgggatggccgctctgactcaggacattcgc gcggcgctctcccgccagaagctggaccacgtgtggaccgacacgcactacgtggggctg caattcccggatccggctcaccccaacaccctgcactgggtcgatgaggccgggaaggtc ggagagcagctgccgctggaggaccctgacgtctactgcccctacagcgccatcggcaac gtcacgggagagctggtgtacgcccactacgggcggcccgaagacctgcaggacctgcgg gccaggggcgtggatccagtgggccgcctgctgctggtgcgcgtgggggtgatcagcttc gcccagaaggtgaccaatgctcaggacttcggggctcaaggagtgctcatatacccagag ccagcggacttctcccaggacccacccaagccaagcctgtccagccagcaggcagtgtat ggacatgtgcacctgggaactggagacccctacacacctggcttcccttccttcaatcaa acccagttccctccagttgcatcatcaggccttcccagcatcccagcccagcccatcagt gcagacattgcctcccgcctgctgaggaagctcaaaggccctgtggccccccaagaatgg caggggagcctcctaggctccccttatcacctgggccccgggccacgactgcggctagtg gtcaacaatcacaggacctccacccccatcaacaacatcttcggctgcatcgaaggccgc tcagagccagatcactacgttgtcatcggggcccagagggatgcatggggcccaggagca gctaaatccgctgtggggacggctatactcctggagctggtgcggaccttttcctccatg gtgagcaacggcttccggccccgcagaagtctcctcttcatcagctgggacggtggtgac tttggaagcgtgggctccacggagtggctagagggctacctcagcgtgctgcacctcaaa gccgtagtgtacgtgagcctggacaacgcagtgctgggggatgacaagtttcatgccaag accagcccccttctgacaagtctcattgagagtgtcctgaagcaggtggattctcccaac cacagtgggcagactctctatgaacaggtggtgttcaccaatcccagctgggatgctgag gtgatccggcccctacccatggacagcagtgcctattccttcacggcctttgtgggagtc cctgccgtcgagttctcctttatggaggacgaccaggcctacccattcctgcacacaaag gaggacacttatgagaacctgcataaggtgctgcaaggccgcctgcccgccgtggcccag gccgtggcccagctcgcagggcagctcctcatccggctcagccacgatcgcctgctgccc ctcgacttcggccgctacggggacgtcgtcctcaggcacatcgggaacctcaacgagttc tctggggacctcaaggcccgcgggctgaccctgcagtgggtgtactcggcgcggggggac tacatccgggcggcggaaaagctgcggcaggagatctacagctcggaggagagagacgag cgactgacacgcatgtacaacgtgcgcataatgcgggtggagttctacttcctttcccag tacgtgtcgccagccgactccccgttccgccacatcttcatgggccgtggagaccacacg ctgggcgccctgctggaccacctgcggctgctgcgctccaacagctccgggacccccggg gccacctcctccactggcttccaggagagccgtttccggcgtcagctagccctgctcacc tggacgctgcaaggggcagccaatgcgcttagcggggatgtctggaacattgataacaac ttctga

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