• Gene id: 148738

Gene Summary

• Gene Symbol: HJV   Gene   UCSC   Ensembl
• Aliases: HFE2, HFE2A, JH, RGMC
• Gene name: hemojuvelin BMP co-receptor
• Alternate names: hemojuvelin, RGM domain family member C, haemojuvelin, hemochromatosis type 2 (juvenile), hemochromatosis type 2 protein, hemojuvelin BMP coreceptor, repulsive guidance molecule c,
• Gene location: 1q21.1 (156816852: 156806237)     Exons: 9     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 608374

Protein Summary

• Protein general information: Q6ZVN8  
  • Name: Hemojuvelin (Hemochromatosis type 2 protein) (Hemojuvelin BMP coreceptor) (RGM domain family member C)
  • Length: 426  
  • Mass: 45080
  • Tissue specificity: Adult and fetal liver, heart, and skeletal muscle. {ECO
• Sequence:

  MGEPGQSPSPRSSHGSPPTLSTLTLLLLLCGHAHSQCKILRCNAEYVSSTLSLRGGGSSGALRGGGGGGRGGGVG
  SGGLCRALRSYALCTRRTARTCRGDLAFHSAVHGIEDLMIQHNCSRQGPTAPPPPRGPALPGAGSGLPAPDPCDY
  EGRFSRLHGRPPGFLHCASFGDPHVRSFHHHFHTCRVQGAWPLLDNDFLFVQATSSPMALGANATATRKLTIIFK
  NMQECIDQKVYQAEVDNLPVAFEDGSINGGDRPGGSSLSIQTANPGNHVEIQAAYIGTTIIIRQTAGQLSFSIKV
  AEDVAMAFSAEQDLQLCVGGCPPSQRLSRSERNRRGAITIDTARRLCKEGLPVEDAYFHSCVFDVLISGDPNFTV
  AAQAALEDARAFLPDLEKLHLFPSDAGVPLSSATLLAPLLSGLFVLWLCIQ

• Structural information:
  • Interpro: IPR033606  IPR016123  IPR040287  IPR009496  IPR010536  
  • PDB: 4UI1
  • PDBsum: 4UI1
  • DIP: 61608
  • STRING: ENSP00000337014
• Other Databases: GeneCards:  HJV  Malacards:  HJV

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0015026	coreceptor activity	IBA	molecular function
GO:0030509	BMP signaling pathway	IBA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0036122	BMP binding	IEA	molecular function
GO:0015026	coreceptor activity	IEA	molecular function
GO:0030509	BMP signaling pathway	IEA	biological process
GO:0055072	iron ion homeostasis	IEA	biological process
GO:1990712	HFE-transferrin receptor complex	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0055072	iron ion homeostasis	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0055072	iron ion homeostasis	IGI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0036122	BMP binding	IEA	molecular function
GO:0006879	cellular iron ion homeostasis	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0055072	iron ion homeostasis	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0030514	negative regulation of BMP signaling pathway	IEA	biological process
GO:0030509	BMP signaling pathway	IEA	biological process
GO:0015026	coreceptor activity	IEA	molecular function
GO:0009986	cell surface	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0098797	plasma membrane protein complex	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0005102	signaling receptor binding	IPI	molecular function
GO:1990459	transferrin receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006879	cellular iron ion homeostasis	ISS	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0016540	protein autoprocessing	IMP	biological process
GO:0015026	coreceptor activity	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0070724	BMP receptor complex	IDA	cellular component
GO:0071773	cellular response to BMP stimulus	IMP	biological process
GO:1990712	HFE-transferrin receptor complex	IDA	cellular component
GO:0098821	BMP receptor activity	IDA	contributes to
GO:0036122	BMP binding	IPI	molecular function
GO:0030509	BMP signaling pathway	IMP	biological process
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0030509	BMP signaling pathway	IGI	biological process
GO:0032924	activin receptor signaling pathway	IGI	biological process
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04350	TGF-beta signaling pathway

Diseases

Associated diseases	References
Hemochromatosis	KEGG:H00211
Hemochromatosis	KEGG:H00211
Hemochromatosis	PMID:14647275
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)