MOUSE:RGMC

Species (Taxon ID)	Mus musculus (Mouse). (10090)
Gene Name(s)	Hfe2 (synonyms: Rgmc)
Protein Name(s)	Hemojuvelin Hemochromatosis type 2 protein homolog RGM domain family member C
External Links
UniProt	Q7TQ32
EMBL	AJ557515 AK009636 AK014082 BC022603
CCDS	CCDS51003.1
RefSeq	NP_081402.3 XP_006502099.1 XP_006502100.1
UniGene	Mm.171314
ProteinModelPortal	Q7TQ32
SMR	Q7TQ32
PhosphoSite	Q7TQ32
PaxDb	Q7TQ32
PRIDE	Q7TQ32
DNASU	69585
Ensembl	ENSMUST00000049208
GeneID	69585
KEGG	mmu:69585
UCSC	uc008qna.2
CTD	148738
MGI	MGI:1916835
eggNOG	NOG87951
GeneTree	ENSGT00390000008488
HOGENOM	HOG000013072
HOVERGEN	HBG057627
InParanoid	Q7TQ32
KO	K06847
OMA	PPGFLHC
OrthoDB	EOG7VQJDC
PhylomeDB	Q7TQ32
TreeFam	TF329836
Reactome	REACT_229826
NextBio	329852
PMAP-CutDB	Q7TQ32
PRO	PR:Q7TQ32
Proteomes	UP000000589
Bgee	Q7TQ32
CleanEx	MM_HFE2
Genevestigator	Q7TQ32
GO	GO:0031225 GO:0009986 GO:0005615 GO:0005886 GO:0015026 GO:0030509 GO:0055072 GO:0030514 GO:0045944
InterPro	IPR009496 IPR010536
Pfam	PF06534 PF06535

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
	GO:0055072	iron ion homeostasis	PMID:21993681^[1]	ECO:0000316		UniProtKB:Q63916	P		Figure 1	complete CACAO 5131
enables	GO:0036122	BMP binding	PMID:16604073^[2]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P12644	F		Seeded From UniProt	complete
enables	GO:0036122	BMP binding	PMID:16604073^[2]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P12643	F		Seeded From UniProt	complete
involved_in	GO:0000122	negative regulation of transcription by RNA polymerase II	PMID:25860887^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	occurs_in:(CL:0000182) has_regulation_target:(UniProtKB:P20722)\|occurs_in(CL:0000091) has_regulation_target:(UniProtKB:P20722)\|has_regulation_target:(UniProtKB:P20722) occurs_in:(CL:1000398)\|occurs_in:(CL:0000091) has_regulation_target:(UniProtKB:Q62351)\|has_regulation_target:(UniProtKB:Q62351) occurs_in:(CL:1000398)	Seeded From UniProt	complete
involved_in	GO:0045944	positive regulation of transcription by RNA polymerase II	PMID:25860887^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	has_regulation_target:(UniProtKB:Q9EQ21) occurs_in:(UBERON:0002107)\|occurs_in:(UBERON:0002107) has_regulation_target:(UniProtKB:Q62351)	Seeded From UniProt	complete
involved_in	GO:0006879	cellular iron ion homeostasis	PMID:25860887^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	occurs_in:(CL:0000182)\|occurs_in:(UBERON:0002107)\|occurs_in:(UBERON:0002106)	Seeded From UniProt	complete
involved_in	GO:0055072	iron ion homeostasis	PMID:21993681^[1]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:Q63916	P		Seeded From UniProt	complete
involved_in	GO:0030509	BMP signaling pathway	PMID:21873635^[4]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1916049 MGI:MGI:1916835 MGI:MGI:2679262 PANTHER:PTN001265550 UniProtKB:Q6ZVN8	P		Seeded From UniProt	complete
enables	GO:0015026	coreceptor activity	PMID:21873635^[4]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1916835 MGI:MGI:2679262 PANTHER:PTN001265550 UniProtKB:Q6ZVN8	F		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:21873635^[4]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN001265550 UniProtKB:Q6ZVN8 WB:WBGene00022154	C		Seeded From UniProt	complete
part_of	GO:1990712	HFE-transferrin receptor complex	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q6ZVN8	C		Seeded From UniProt	complete
enables	GO:1990459	transferrin receptor binding	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q6ZVN8	F		Seeded From UniProt	complete
contributes_to	GO:0098821	BMP receptor activity	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q6ZVN8	F		Seeded From UniProt	complete
part_of	GO:0098797	plasma membrane protein complex	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q6ZVN8	C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0071773	cellular response to BMP stimulus	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q6ZVN8	P		Seeded From UniProt	complete
part_of	GO:0070724	BMP receptor complex	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q6ZVN8	C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0055072	iron ion homeostasis	PMID:24409331^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3587746	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0055072	iron ion homeostasis	PMID:22960056^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3587747	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0055072	iron ion homeostasis	PMID:19751239^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3587746	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0055072	iron ion homeostasis	PMID:16075058^[8]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3587747	P	has_participant:(EMAPA:16846)\|has_participant:(EMAPA:17503)\|has_participant:(EMAPA:16105)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0055072	iron ion homeostasis	GO_REF:0000008	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q6ZVN8	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0045944	positive regulation of transcription by RNA polymerase II	PMID:16604073^[2]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:88177	P	has_regulation_target:(MGI:MGI:1933533)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0045944	positive regulation of transcription by RNA polymerase II	PMID:19751239^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3587746	P	regulates_o_has_input:(MGI:MGI:1933533)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0045944	positive regulation of transcription by RNA polymerase II	PMID:18997172^[9]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0045944	positive regulation of transcription by RNA polymerase II	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q6ZVN8	P		Seeded From UniProt	complete
enables	GO:0036122	BMP binding	PMID:16604073^[2]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0036122	BMP binding	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q6ZVN8	F		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0032924	activin receptor signaling pathway	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q6ZVN8	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0030514	negative regulation of BMP signaling pathway	PMID:20065295^[10]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:88177	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0030509	BMP signaling pathway	PMID:19751239^[7]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:1321394 MGI:MGI:88177 MGI:MGI:88180	P	occurs_in:(CL:0000182)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0030509	BMP signaling pathway	PMID:16604073^[2]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:107191 MGI:MGI:109452 MGI:MGI:1338938 MGI:MGI:88177	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0030509	BMP signaling pathway	PMID:24409331^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3587746	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0030509	BMP signaling pathway	PMID:16604073^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3587746	P	occurs_in:(EMAPA:16846)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0030509	BMP signaling pathway	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q6ZVN8	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0016540	protein autoprocessing	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q6ZVN8	P		Seeded From UniProt	complete
part_of	GO:0016323	basolateral plasma membrane	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:1310195	C		Seeded From UniProt	complete
enables	GO:0015026	coreceptor activity	PMID:16604073^[2]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:88177	F		Seeded From UniProt	complete
enables	GO:0015026	coreceptor activity	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q6ZVN8	F		Seeded From UniProt	complete
part_of	GO:0009986	cell surface	PMID:14749425^[11]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000008	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q6ZVN8	C		Seeded From UniProt	complete
part_of	GO:0005615	extracellular space	PMID:20065295^[10]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005615	extracellular space	PMID:14749425^[11]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005615	extracellular space	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q6ZVN8	C		Seeded From UniProt	complete
enables	GO:0005102	signaling receptor binding	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q6ZVN8	F		Seeded From UniProt	complete
part_of	GO:1990712	HFE-transferrin receptor complex	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6ZVN8 ensembl:ENSP00000337014	C		Seeded From UniProt	complete
enables	GO:1990459	transferrin receptor binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6ZVN8 ensembl:ENSP00000337014	F		Seeded From UniProt	complete
enables	GO:0098821	BMP receptor activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6ZVN8 ensembl:ENSP00000337014	F		Seeded From UniProt	complete
part_of	GO:0098797	plasma membrane protein complex	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6ZVN8 ensembl:ENSP00000337014	C		Seeded From UniProt	complete
involved_in	GO:0071773	cellular response to BMP stimulus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6ZVN8 ensembl:ENSP00000337014	P		Seeded From UniProt	complete
part_of	GO:0070724	BMP receptor complex	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6ZVN8 ensembl:ENSP00000337014	C		Seeded From UniProt	complete
involved_in	GO:0055072	iron ion homeostasis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6ZVN8 ensembl:ENSP00000337014	P		Seeded From UniProt	complete
involved_in	GO:0045944	positive regulation of transcription by RNA polymerase II	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6ZVN8 ensembl:ENSP00000337014	P		Seeded From UniProt	complete
enables	GO:0036122	BMP binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6ZVN8 ensembl:ENSP00000337014	F		Seeded From UniProt	complete
involved_in	GO:0032924	activin receptor signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6ZVN8 ensembl:ENSP00000337014	P		Seeded From UniProt	complete
involved_in	GO:0030509	BMP signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6ZVN8 ensembl:ENSP00000337014	P		Seeded From UniProt	complete
involved_in	GO:0016540	protein autoprocessing	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6ZVN8 ensembl:ENSP00000337014	P		Seeded From UniProt	complete
enables	GO:0015026	coreceptor activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6ZVN8 ensembl:ENSP00000337014	F		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6ZVN8 ensembl:ENSP00000337014	C		Seeded From UniProt	complete
part_of	GO:0005615	extracellular space	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6ZVN8 ensembl:ENSP00000337014	C		Seeded From UniProt	complete
enables	GO:0005102	signaling receptor binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6ZVN8 ensembl:ENSP00000337014	F		Seeded From UniProt	complete
enables	GO:0015026	coreceptor activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR033606	F		Seeded From UniProt	complete
involved_in	GO:0030509	BMP signaling pathway	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR033606	P		Seeded From UniProt	complete
enables	GO:0036122	BMP binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR033606	F		Seeded From UniProt	complete
involved_in	GO:0055072	iron ion homeostasis	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR033606	P		Seeded From UniProt	complete
part_of	GO:1990712	HFE-transferrin receptor complex	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR033606	C		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-1003 UniProtKB-SubCell:SL-0039	C		Seeded From UniProt	complete
part_of	GO:0031225	anchored component of membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0336	C		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 Bartnikas, TB & Fleming, MD (2012) Hemojuvelin is essential for transferrin-dependent and transferrin-independent hepcidin expression in mice. Haematologica 97 189-92 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 ^2.3 ^2.4 ^2.5 ^2.6 Babitt, JL et al. (2006) Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression. Nat. Genet. 38 531-9 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 Rausa, M et al. (2015) Bmp6 expression in murine liver non parenchymal cells: a mechanism to control their high iron exporter activity and protect hepatocytes from iron overload? PLoS ONE 10 e0122696 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ ^5.0 ^5.1 Gkouvatsos, K et al. (2014) Iron-dependent regulation of hepcidin in Hjv-/- mice: evidence that hemojuvelin is dispensable for sensing body iron levels. PLoS ONE 9 e85530 PubMed GONUTS page
↑ Vujić Spasić, M et al. (2013) Smad6 and Smad7 are co-regulated with hepcidin in mouse models of iron overload. Biochim. Biophys. Acta 1832 76-84 PubMed GONUTS page
↑ ^7.0 ^7.1 ^7.2 Truksa, J et al. (2009) Suppression of the hepcidin-encoding gene Hamp permits iron overload in mice lacking both hemojuvelin and matriptase-2/TMPRSS6. Br. J. Haematol. 147 571-81 PubMed GONUTS page
↑ Niederkofler, V et al. (2005) Hemojuvelin is essential for dietary iron sensing, and its mutation leads to severe iron overload. J. Clin. Invest. 115 2180-6 PubMed GONUTS page
↑ Truksa, J et al. (2009) Two BMP responsive elements, STAT, and bZIP/HNF4/COUP motifs of the hepcidin promoter are critical for BMP, SMAD1, and HJV responsiveness. Blood 113 688-95 PubMed GONUTS page
↑ ^10.0 ^10.1 Lee, DH et al. (2010) Neogenin inhibits HJV secretion and regulates BMP-induced hepcidin expression and iron homeostasis. Blood 115 3136-45 PubMed GONUTS page
↑ ^11.0 ^11.1 Niederkofler, V et al. (2004) Repulsive guidance molecule (RGM) gene function is required for neural tube closure but not retinal topography in the mouse visual system. J. Neurosci. 24 808-18 PubMed GONUTS page

[PMID:21993681-1] 1.0 ^1.1 Bartnikas, TB & Fleming, MD (2012) Hemojuvelin is essential for transferrin-dependent and transferrin-independent hepcidin expression in mice. Haematologica 97 189-92 PubMed GONUTS page

[PMID:16604073-2] 2.0 ^2.1 ^2.2 ^2.3 ^2.4 ^2.5 ^2.6 Babitt, JL et al. (2006) Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression. Nat. Genet. 38 531-9 PubMed GONUTS page

[PMID:25860887-3] 3.0 ^3.1 ^3.2 Rausa, M et al. (2015) Bmp6 expression in murine liver non parenchymal cells: a mechanism to control their high iron exporter activity and protect hepatocytes from iron overload? PLoS ONE 10 e0122696 PubMed GONUTS page

[PMID:21873635-4] 4.0 ^4.1 ^4.2 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:24409331-5] 5.0 ^5.1 Gkouvatsos, K et al. (2014) Iron-dependent regulation of hepcidin in Hjv-/- mice: evidence that hemojuvelin is dispensable for sensing body iron levels. PLoS ONE 9 e85530 PubMed GONUTS page

[PMID:22960056-6] Vujić Spasić, M et al. (2013) Smad6 and Smad7 are co-regulated with hepcidin in mouse models of iron overload. Biochim. Biophys. Acta 1832 76-84 PubMed GONUTS page

[PMID:19751239-7] 7.0 ^7.1 ^7.2 Truksa, J et al. (2009) Suppression of the hepcidin-encoding gene Hamp permits iron overload in mice lacking both hemojuvelin and matriptase-2/TMPRSS6. Br. J. Haematol. 147 571-81 PubMed GONUTS page

[PMID:16075058-8] Niederkofler, V et al. (2005) Hemojuvelin is essential for dietary iron sensing, and its mutation leads to severe iron overload. J. Clin. Invest. 115 2180-6 PubMed GONUTS page

[PMID:18997172-9] Truksa, J et al. (2009) Two BMP responsive elements, STAT, and bZIP/HNF4/COUP motifs of the hepcidin promoter are critical for BMP, SMAD1, and HJV responsiveness. Blood 113 688-95 PubMed GONUTS page

[PMID:20065295-10] 10.0 ^10.1 Lee, DH et al. (2010) Neogenin inhibits HJV secretion and regulates BMP-induced hepcidin expression and iron homeostasis. Blood 115 3136-45 PubMed GONUTS page

[PMID:14749425-11] 11.0 ^11.1 Niederkofler, V et al. (2004) Repulsive guidance molecule (RGM) gene function is required for neural tube closure but not retinal topography in the mouse visual system. J. Neurosci. 24 808-18 PubMed GONUTS page

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MOUSE:RGMC

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Annotations

Notes

References

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