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39 records found for search term Hfe
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RGD IDSymbolNameDescriptionChrStartStopSpeciesAnnotationsMatchType
2793Hfehomeostatic iron regulatorENCODES a protein that exhibits beta-2-microglobulin binding (ortholog); co-receptor binding (ortholog); peptide antigen binding (ortholog); INVOLVED IN acute-phase response; cellular response to iron ion starvation; female pregnancy; ASSOCIATED WITH alcohol-associated liver disease; Abdominal Pain 174184130241849359Rat293symbol , PhenoGengene, protein-coding, VALIDATED [RefSeq]
736272Hfehomeostatic iron regulatorEnables transferrin receptor binding activity. Involved in negative regulation of proteasomal ubiquitin-dependent protein catabolic process and positive regulation of gene expression. Acts upstream of or within hormone biosynthetic process and multicellular organismal-level iron ion homeostasis. Par132388601723894837Mouse400symbol , PhenoGen , descriptiongene, protein-coding, VALIDATED [RefSeq]
1345296HFEhomeostatic iron regulatorThe protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The 62608742926098343Human476symbol , old_gene_name , COSMIC , Human Proteome Map , old_gene_symbolgene, protein-coding, REVIEWED [RefSeq]
8731107Hfehomeostatic iron regulatorENCODES a protein that exhibits beta-2-microglobulin binding (ortholog); co-receptor binding (ortholog); peptide antigen binding (ortholog); INVOLVED IN acute-phase response (ortholog); BMP signaling pathway (ortholog); cell surface receptor signaling pathway (ortholog); ASSOCIATED WITH Abdominal PaNW_004955483933269941070Chinchilla160symbolgene, protein-coding, MODEL [RefSeq]
11893415HFEhomeostatic iron regulatorENCODES a protein that exhibits peptide antigen binding (ortholog); INVOLVED IN acute-phase response (ortholog); cellular response to iron ion starvation (ortholog); female pregnancy (ortholog); ASSOCIATED WITH Abdominal Pain (ortholog); alcohol-associated liver disease (ortholog); Alzheimer's disea62592166325930852Bonobo166symbolgene, protein-coding, MODEL [RefSeq]
12138208HFEhomeostatic iron regulatorENCODES a protein that exhibits peptide antigen binding (ortholog); INVOLVED IN acute-phase response (ortholog); cellular response to iron ion starvation (ortholog); female pregnancy (ortholog); ASSOCIATED WITH Abdominal Pain (ortholog); acute lymphoblastic leukemia (ortholog); alcohol-associated li352403147924038922Dog163symbolgene, protein-coding, MODEL [RefSeq]
12517799Hfehomeostatic iron regulatorENCODES a protein that exhibits peptide antigen binding (ortholog); INVOLVED IN acute-phase response (ortholog); cellular response to iron ion starvation (ortholog); female pregnancy (ortholog); ASSOCIATED WITH Abdominal Pain (ortholog); acute lymphoblastic leukemia (ortholog); alcohol-associated liNW_00493667119400791947574Squirrel162symbolgene, protein-coding, MODEL [RefSeq]
13916047HFEhomeostatic iron regulatorENCODES a protein that exhibits peptide antigen binding (ortholog); INVOLVED IN acute-phase response (ortholog); cellular response to iron ion starvation (ortholog); female pregnancy (ortholog); ASSOCIATED WITH Abdominal Pain (ortholog); acute lymphoblastic leukemia (ortholog); alcohol-associated liPig165symbolgene, protein-coding, MODEL [RefSeq]
18507188HFEhomeostatic iron regulatorENCODES a protein that exhibits peptide antigen binding (ortholog); INVOLVED IN acute-phase response (ortholog); cellular response to iron ion starvation (ortholog); female pregnancy (ortholog); ASSOCIATED WITH Abdominal Pain (ortholog); acute lymphoblastic leukemia (ortholog); alcohol-associated liGreen Monkey165symbolgene, protein-coding, MODEL [RefSeq]
18913105Hfehomeostatic iron regulatorENCODES a protein that exhibits beta-2-microglobulin binding (ortholog); co-receptor binding (ortholog); peptide antigen binding (ortholog); INVOLVED IN acute-phase response (ortholog); BMP signaling pathway (ortholog); cell surface receptor signaling pathway (ortholog); ASSOCIATED WITH Abdominal PaNaked Mole-Rat163symbolgene, protein-coding, MODEL [RefSeq]
625893258Hfehomeostatic iron regulatorENCODES a protein that exhibits beta-2-microglobulin binding (ortholog); co-receptor binding (ortholog); peptide antigen binding (ortholog); INVOLVED IN acute-phase response (ortholog); BMP signaling pathway (ortholog); cell surface receptor signaling pathway (ortholog); ASSOCIATED WITH Abdominal PaBlack Rat152symbolgene, protein-coding, MODEL [RefSeq]
36947460HFE-AS1HFE antisense RNA 1ASSOCIATED WITH cardiomyopathy62608629026091034Human1symbol , GTEx , COSMIC , name , Human Proteome Mapgene, ncrna, VALIDATED [RefSeq]
732498FTH1ferritin heavy chain 1This gene encodes the heavy subunit of ferritin, the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different ti116196428561967634Human595old_gene_symbolgene, protein-coding, REVIEWED [RefSeq]
1310195Hjvhemojuvelin BMP co-receptorENCODES a protein that exhibits BMP binding (ortholog); BMP receptor activity (ortholog); coreceptor activity (ortholog); INVOLVED IN activin receptor signaling pathway (ortholog); BMP signaling pathway (ortholog); cellular response to BMP stimulus (ortholog); PARTICIPATES IN Bone morphogenetic prot2186754801186758708Rat151old_gene_symbolgene, protein-coding, VALIDATED [RefSeq]
1320952HJVhemojuvelin BMP co-receptorThe 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. Two uORFs in the 5' UTR negatively regulate the expression1146017470146021735Human222old_gene_symbolgene, protein-coding, REVIEWED [RefSeq]
1551463Hjvhemojuvelin BMP co-receptorEnables BMP binding activity and coreceptor activity. Involved in intracellular iron ion homeostasis and negative regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including BMP signaling pathway; multicellular organismal-level iron ion homeostasis; and 39643247996436532Mouse213old_gene_symbolgene, protein-coding, VALIDATED [RefSeq]
8871876Hjvhemojuvelin BMP co-receptorENCODES a protein that exhibits BMP binding (ortholog); BMP receptor activity (ortholog); coreceptor activity (ortholog); INVOLVED IN activin receptor signaling pathway (ortholog); BMP signaling pathway (ortholog); cellular response to BMP stimulus (ortholog); PARTICIPATES IN Bone morphogenetic protNW_0049555688038684707Chinchilla52old_gene_symbolgene, protein-coding, MODEL [RefSeq]
11990622HJVhemojuvelin BMP co-receptorENCODES a protein that exhibits BMP binding (inferred); BMP receptor activity (inferred); coreceptor activity (inferred); INVOLVED IN BMP signaling pathway (ortholog); intracellular iron ion homeostasis (ortholog); multicellular organismal-level iron ion homeostasis (ortholog); PARTICIPATES IN Bone 1121738465121742743Bonobo50old_gene_symbolgene, protein-coding, MODEL [RefSeq]
12407842HJVhemojuvelin BMP co-receptorENCODES a protein that exhibits BMP receptor activity (ortholog); signaling receptor binding (ortholog); transferrin receptor binding (ortholog); INVOLVED IN activin receptor signaling pathway (ortholog); BMP signaling pathway (ortholog); cellular response to BMP stimulus (ortholog); PARTICIPATES IN175879264758797504Dog50description , old_gene_symbolgene, protein-coding, MODEL [RefSeq]
12609495Hjvhemojuvelin BMP co-receptorENCODES a protein that exhibits BMP binding (inferred); BMP receptor activity (inferred); coreceptor activity (inferred); INVOLVED IN BMP signaling pathway (ortholog); multicellular organismal-level iron ion homeostasis (ortholog); negative regulation of BMP signaling pathway (ortholog); PARTICIPATENW_004936867742539747035Squirrel50old_gene_symbolgene, protein-coding, MODEL [RefSeq]
14153335HJVhemojuvelin BMP co-receptorENCODES a protein that exhibits BMP binding (inferred); BMP receptor activity (inferred); coreceptor activity (inferred); INVOLVED IN BMP signaling pathway (ortholog); multicellular organismal-level iron ion homeostasis (ortholog); negative regulation of BMP signaling pathway (ortholog); PARTICIPATEPig50old_gene_symbolgene, protein-coding, MODEL [RefSeq]
18731500HJVhemojuvelin BMP co-receptorENCODES a protein that exhibits BMP binding (inferred); BMP receptor activity (inferred); coreceptor activity (inferred); INVOLVED IN BMP signaling pathway (ortholog); multicellular organismal-level iron ion homeostasis (ortholog); negative regulation of BMP signaling pathway (ortholog); PARTICIPATEGreen Monkey50old_gene_symbolgene, protein-coding, MODEL [RefSeq]
18913335Hjvhemojuvelin BMP co-receptorENCODES a protein that exhibits BMP binding (ortholog); BMP receptor activity (ortholog); signaling receptor binding (ortholog); INVOLVED IN activin receptor signaling pathway (ortholog); BMP signaling pathway (ortholog); cellular response to BMP stimulus (ortholog); PARTICIPATES IN Bone morphogenetNaked Mole-Rat52old_gene_symbolgene, protein-coding, MODEL [RefSeq]
733072SLC40A1solute carrier family 40 member 1The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008]2189560590189580786Human479description , old_gene_symbolgene, protein-coding, REVIEWED [RefSeq]
1320887TFR2transferrin receptor 2This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene ha7100620420100641552Human287old_gene_symbolgene, protein-coding, REVIEWED [RefSeq]
736414HAMPhepcidin antimicrobial peptideThe product encoded by this gene is involved in the maintenance of iron homeostasis, and it is necessary for the regulation of iron storage in macrophages, and for intestinal iron absorption. The preproprotein is post-translationally cleaved into mature peptides of 20, 22 and 25 amino acids, and the193528252835285143Human483old_gene_symbolgene, protein-coding, REVIEWED [RefSeq]
732679FEN1flap structure-specific endonuclease 1The protein encoded by this gene removes 5' overhanging flaps in DNA repair and processes the 5' ends of Okazaki fragments in lagging strand DNA synthesis. Direct physical interaction between this protein and AP endonuclease 1 during long-patch base excision repair provides coordinated loading of th116179291161797238Human292old_gene_symbolgene, protein-coding, REVIEWED [RefSeq]
737169PPM1Fprotein phosphatase, Mg2+/Mn2+ dependent 1FThe protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase can interact with Rho guanine nucleotide exchange factors (PIX), and thus block the effects of p222191942521952848Human124old_gene_symbolgene, protein-coding, REVIEWED [RefSeq]
20866010BMPR1Bbone morphotic protein receptor type 1BENCODES a protein that exhibits ATP binding (inferred); BMP binding (inferred); BMP receptor activity (inferred); INVOLVED IN BMP signaling pathway (inferred); bone development (inferred); cell surface receptor protein serine/threonine kinase signaling pathway (inferred); FOUND IN HFEGreen Monkey49descriptiongene, protein-coding
1310152Tfr2transferrin receptor 2ENCODES a protein that exhibits co-receptor binding (ortholog); transferrin receptor activity (ortholog); INVOLVED IN acute-phase response; cellular response to iron ion (ortholog); endocytic iron import into cell (ortholog); ASSOCIATED WITH hemochromatosis type 3; acute myeloid leukemia (ortholog);122474445024761413Rat157descriptiongene, protein-coding, VALIDATED [RefSeq]
1320888Tfr2transferrin receptor 2Predicted to enable co-receptor binding activity and transferrin receptor activity. Acts upstream of or within multicellular organismal-level iron ion homeostasis. Part of HFE-transferrin receptor complex. Is expressed in liver lobe; mesonephros; and urinary sys5137568127137586344Mouse202descriptiongene, protein-coding, VALIDATED [RefSeq]
9041267Tfr2transferrin receptor 2ENCODES a protein that exhibits co-receptor binding (ortholog); transferrin receptor activity (ortholog); INVOLVED IN acute-phase response (ortholog); cellular response to iron ion (ortholog); endocytic iron import into cell (ortholog); ASSOCIATED WITH acute myeloid leukemia (ortholog); beta thalassNW_004955573272315289227Chinchilla37descriptiongene, protein-coding, MODEL [RefSeq]
11690036TFR2transferrin receptor 2ENCODES a protein that exhibits co-receptor binding (inferred); transferrin receptor activity (inferred); INVOLVED IN acute-phase response (ortholog); multicellular organismal-level iron ion homeostasis (ortholog); ASSOCIATED WITH acute myeloid leukemia (ortholog); beta thalassemia (ortholog); genet79264743192669889Bonobo38descriptiongene, protein-coding, MODEL [RefSeq]
12142751TFR2transferrin receptor 2ENCODES a protein that exhibits co-receptor binding (inferred); transferrin receptor activity (inferred); INVOLVED IN acute-phase response (ortholog); multicellular organismal-level iron ion homeostasis (ortholog); ASSOCIATED WITH acute myeloid leukemia (ortholog); beta thalassemia (ortholog); genet690595019076646Dog41descriptiongene, protein-coding, MODEL [RefSeq]
12721535Tfr2transferrin receptor 2ENCODES a protein that exhibits co-receptor binding (inferred); transferrin receptor activity (inferred); INVOLVED IN acute-phase response (ortholog); multicellular organismal-level iron ion homeostasis (ortholog); ASSOCIATED WITH acute myeloid leukemia (ortholog); beta thalassemia (ortholog); genetNW_004936543667570681872Squirrel40descriptiongene, protein-coding, MODEL [RefSeq]
14024130TFR2transferrin receptor 2ENCODES a protein that exhibits co-receptor binding (inferred); transferrin receptor activity (inferred); INVOLVED IN acute-phase response (ortholog); multicellular organismal-level iron ion homeostasis (ortholog); ASSOCIATED WITH acute myeloid leukemia (ortholog); beta thalassemia (ortholog); genetPig43descriptiongene, protein-coding, MODEL [RefSeq]
18552913TFR2transferrin receptor 2ENCODES a protein that exhibits co-receptor binding (inferred); transferrin receptor activity (inferred); INVOLVED IN acute-phase response (ortholog); multicellular organismal-level iron ion homeostasis (ortholog); ASSOCIATED WITH acute myeloid leukemia (ortholog); beta thalassemia (ortholog); genetGreen Monkey45descriptiongene, protein-coding, MODEL [RefSeq]
18900080Tfr2transferrin receptor 2ENCODES a protein that exhibits co-receptor binding (ortholog); INVOLVED IN acute-phase response (ortholog); cellular response to iron ion (ortholog); intracellular iron ion homeostasis (ortholog); ASSOCIATED WITH acute myeloid leukemia (ortholog); beta thalassemia (ortholog); genetic disease (orthoNaked Mole-Rat37descriptiongene, protein-coding, MODEL [RefSeq]
625968758Tfr2transferrin receptor 2ENCODES a protein that exhibits co-receptor binding (ortholog); transferrin receptor activity (ortholog); INVOLVED IN acute-phase response (ortholog); cellular response to iron ion (ortholog); endocytic iron import into cell (ortholog); ASSOCIATED WITH acute myeloid leukemia (ortholog); beta thalassBlack Rat35descriptiongene, protein-coding, MODEL [RefSeq]