Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	148738
Gene name	Hemojuvelin BMP co-receptor
Gene symbol	HJV
Synonyms (NCBI Gene)	HFE2HFE2AJHRGMC
Chromosome	1
Chromosome location	1q21.1
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. Two uORFs in

Show/Hide all (13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28940586	A>C,G	Likely-pathogenic, pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, missense variant
rs74315323	C>A	Pathogenic	Missense variant, coding sequence variant
rs74315325	A>T	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs74315326	A>G	Pathogenic	Missense variant, coding sequence variant
rs74315327	A>G	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant, intron variant
rs121434374	G>C,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs121434375	T>A	Pathogenic	5 prime UTR variant, intron variant, stop gained, coding sequence variant
rs786205063	AGAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1553769428	C>A	Pathogenic	Stop gained, coding sequence variant
rs1553769457	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553769663	T>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs1553769758	C>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs1559279177	G>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0005102	Function	Signaling receptor binding	IPI	18326817, 18335997
GO:0005515	Function	Protein binding	IPI	18335997, 18976966, 19357398, 22728873, 25938661, 32296183
GO:0005615	Component	Extracellular space	IDA	17938254, 25156943
GO:0005615	Component	Extracellular space	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	16075058, 17938254
GO:0005886	Component	Plasma membrane	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	ISS
GO:0009986	Component	Cell surface	IEA
GO:0015026	Function	Coreceptor activity	IBA
GO:0015026	Function	Coreceptor activity	IDA	16604073
GO:0015026	Function	Coreceptor activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016540	Process	Protein autoprocessing	IMP	18335997
GO:0030509	Process	BMP signaling pathway	IBA
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030509	Process	BMP signaling pathway	IGI	18326817
GO:0030509	Process	BMP signaling pathway	IMP	16604073
GO:0030514	Process	Negative regulation of BMP signaling pathway	IEA
GO:0032924	Process	Activin receptor signaling pathway	IGI	18326817
GO:0036122	Function	BMP binding	IEA
GO:0036122	Function	BMP binding	IPI	18335997
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16604073, 18326817
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IDA	16075058
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IEA
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IGI	16075058
GO:0070724	Component	BMP receptor complex	IDA	16604073
GO:0071773	Process	Cellular response to BMP stimulus	IMP	16604073
GO:0098552	Component	Side of membrane	IEA
GO:0098797	Component	Plasma membrane protein complex	IDA	18335997
GO:0098821	Function	BMP receptor activity	IDA	16604073
GO:1990459	Function	Transferrin receptor binding	IPI	22728873
GO:1990712	Component	HFE-transferrin receptor complex	IDA	22728873

MIM	HGNC	e!Ensembl
608374	4887	ENSG00000168509

Q6ZVN8

Protein name

Hemojuvelin (Hemochromatosis type 2 protein) (Hemojuvelin BMP coreceptor) (RGM domain family member C)

Protein function

Acts as a bone morphogenetic protein (BMP) coreceptor (PubMed:18976966). Through enhancement of BMP signaling regulates hepcidin (HAMP) expression and regulates iron homeostasis (PubMed:18976966).

PDB

4UI1 , 6Z3L

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06535	RGM_N	37 → 226	Repulsive guidance molecule (RGM) N-terminus	Family
PF06534	RGM_C	230 → 389	Repulsive guidance molecule (RGM) C-terminus	Family

Tissue specificity

TISSUE SPECIFICITY: Adult and fetal liver, heart, and skeletal muscle. {ECO:0000269|PubMed:14647275}.

Sequence

MGEPGQSPSPRSSHGSPPTLSTLTLLLLLCGHAHSQCKILRCNAEYVSSTLSLRGGGSSG
ALRGGGGGGRGGGVGSGGLCRALRSYALCTRRTARTCRGDLAFHSAVHGIEDLMIQHNCS
RQGPTAPPPPRGPALPGAGSGLPAPDPCDYEGRFSRLHGRPPGFLHCASFGDPHVRSFHH
HFHTCRVQGAWPLLDNDFLFVQATSSPMALGANATATRKLTIIFKNMQECIDQKVYQAEV
DNLPVAFEDGSINGGDRPGGSSLSIQTANPGNHVEIQAAYIGTTIIIRQTAGQLSFSIKV
AEDVAMAFSAEQDLQLCVGGCPPSQRLSRSERNRRGAITIDTARRLCKEGLPVEDAYFHS
CVFDVLISGDPNFTVAAQAALEDARAFLPDLEKLHLFPSDAGVPLSSATLLAPLLSGLFV
LWLCIQ

Sequence length

426

Interactions

View interactions

	KEGG
	TGF-beta signaling pathway

126

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hemochromatosis type 1	Pathogenic	rs74315323, rs121434374	RCV000002462 RCV000002469
Hemochromatosis type 2A	Likely pathogenic; Pathogenic	rs782803011, rs1553769745, rs786205063, rs782164742, rs1486905702, rs1652592444, rs1553769690, rs2101986552, rs2101984222, rs2101984042, rs74315323, rs74315324, rs74315326, rs28940586, rs74315327 View all (15 more)	RCV005038162 RCV005408880 RCV005038211 RCV002265992 RCV005047637 RCV001794942 RCV001794943 RCV005032100 RCV002250395 RCV002271958 RCV000002461 RCV000002463 RCV000002465 RCV000002466 RCV000002467 RCV000002468 RCV000002470 RCV000002471 RCV005616580 RCV003146720 RCV003236365 RCV005616670 RCV005419651 RCV003988130 RCV005624223 RCV005040495 RCV005040550 RCV003994658 RCV000678040 RCV000722103 RCV001825579 RCV001828937
HJV-related disorder	Pathogenic	rs74315327	RCV003415628
Juvenile hemochromatosis	Pathogenic	rs74315323	RCV004017220

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial pancreatic carcinoma	Benign	rs56025621	RCV005893707
Lymphoma	Benign	rs56025621	RCV005893708
Nonpapillary renal cell carcinoma	Benign	rs56025621	RCV005893706

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anemia	Stimulate	20713458
Anemia Iron Deficiency	Inhibit	20713458
beta Thalassemia	Inhibit	16939499
beta Thalassemia	Associate	25152992
Brain Neoplasms	Associate	19386095
Carcinoma Hepatocellular	Inhibit	21863061
Carcinoma Non Small Cell Lung	Associate	21170350
Carcinoma Pancreatic Ductal	Associate	34258619
Cardiomyopathies	Associate	18725184, 20593054, 29743178, 32327622
Cardiomyopathy Dilated	Associate	32938653
Coronary Artery Disease	Associate	21626137
Coronary Disease	Associate	22130959
Diabetes Mellitus Type 1	Associate	32327622
Dyslipidemias	Associate	37582372
Essential Hypertension	Associate	28151915
Heart Failure	Associate	34059542
Hemochromatosis	Associate	15461631, 15610558, 16103117, 16838333, 17847004, 18725184, 19342478, 20593054, 26238956, 26633544, 28335084, 29743178, 30362946, 30389309, 30746893 View all (4 more)
Hemochromatosis type 2	Associate	14982867, 14982873, 15138164, 15486069, 15610558, 16103117, 17264300, 17339196, 17768121, 18287331, 18827264, 19342478, 20530805, 25152992, 25666510 View all (4 more)
Hemochromatosis type 4	Associate	24644245
Hypertension	Associate	28151915, 29390526
Hypogonadism	Associate	20593054, 30362946, 32327622
Hypogonadism	Stimulate	29743178
Hypothyroidism	Associate	32327622
Hypoxia	Associate	20713458
Immunologic Deficiency Syndromes	Associate	15671438, 18827264, 30389309
Inflammation	Inhibit	22130959
Iron Deficiencies	Associate	17264300, 20713458, 25152992
Iron Deficiencies	Inhibit	36235581
Iron Overload	Associate	15461631, 15610558, 18827264, 24644245, 25666510, 26633544, 28151915, 34583728
Liver Failure	Associate	25805936
Neoplastic Syndromes Hereditary	Associate	20593054, 30362946
Pulmonary Arterial Hypertension	Associate	35442992
Yersinia Infections	Associate	30362946

HJV (hemojuvelin BMP co-receptor)