Human Gene HJV (ENST00000475797.1) from GENCODE V44
Description: Homo sapiens hemojuvelin BMP co-receptor (HJV), transcript variant d, mRNA. (from RefSeq NM_213652) RefSeq Summary (NM_213652): 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 the 5' UTR negatively regulate the expression and activity of the encoded protein. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq, Oct 2015]. Gencode Transcript: ENST00000475797.1 Gencode Gene: ENSG00000168509.20 Transcript (Including UTRs) Position: hg38 chr1:146,017,468-146,021,734 Size: 4,267 Total Exon Count: 2 Strand: - Coding Region Position: hg38 chr1:146,018,077-146,018,679 Size: 603 Coding Exon Count: 1
ID:RGMC_HUMAN DESCRIPTION: RecName: Full=Hemojuvelin; AltName: Full=Hemochromatosis type 2 protein; AltName: Full=RGM domain family member C; Flags: Precursor; FUNCTION: Member of the repulsive guidance molecule (RGM) family. Involved in iron metabolism. Acts as a bone morphogenetic protein (BMP) coreceptor (By similarity). Enhancement of BMP signaling regulates hepcidin (HAMP) expression and iron metabolism (By similarity). May cooperate with hepcidin to restrict iron absorption in the gut. Could represent the cellular receptor for hepcidin. SUBUNIT: Interacts with BMP2 and BMP4 (By similarity). Interacts with BMPR1B. Interacts with TMPRSS6. SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor (By similarity). TISSUE SPECIFICITY: Adult and fetal liver, heart, and skeletal muscle. DISEASE: Defects in HFE2 are the cause of hemochromatosis type 2A (HFE2A) [MIM:602390]; also known as juvenile hemochromatosis (JH). HFE2A is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. It is the consequence of intestinal iron hyperabsorption associated with macrophages that do not load iron. Deleterious mutations of HFE2 reduced HAMP (hepcidin) levels despite iron overload, which normally induces HAMP expression. SIMILARITY: Belongs to the repulsive guidance molecule (RGM) family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HFE2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q6ZVN8
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0006879 cellular iron ion homeostasis GO:0016540 protein autoprocessing GO:0030509 BMP signaling pathway GO:0030514 negative regulation of BMP signaling pathway GO:0032924 activin receptor signaling pathway GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0055072 iron ion homeostasis GO:0071773 cellular response to BMP stimulus
US Server
