HJV (hemojuvelin BMP co-receptor)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
148738
Gene name Gene Name - the full gene name approved by the HGNC.
Hemojuvelin BMP co-receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HJV
Synonyms (NCBI Gene) Gene synonyms aliases
HFE2, HFE2A, JH, RGMC
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HFE2A
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(26)
GO ID Ontology Definition Evidence Reference
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
GO:0005615 Component Extracellular space IDA 17938254, 25156943
GO:0005886 Component Plasma membrane IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608374 4887 ENSG00000168509
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
Sequence length 426
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  TGF-beta signaling pathway  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (10)
Causal
Disease term Disease name dbSNP ID References
Arthritis Arthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Azoospermia Azoospermia rs200969445, rs144567652, rs765353898
Cardiomyopathy Cardiomyopathy, Dilated rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)
Cholestasis Cholestasis rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039 27989131
Show/Hide Unknown Diseases (4)
Unknown
Disease term Disease name Evidence References Source
Cirrhosis Cirrhosis ClinVar
Congestive heart failure Congestive heart failure ClinVar
Coronary heart disease Coronary heart disease 21626137 ClinVar
Diabetes Diabetes GWAS
Show/Hide Text Mining Associations (33)
Associations from Text Mining
Disease Name Relationship Type References
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