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Aliases for HJV Gene

Aliases for HJV Gene

  • Hemojuvelin BMP Co-Receptor 2 3
  • Hemochromatosis Type 2 (Juvenile) 2 3 5
  • Hemochromatosis Type 2 Protein 3 4
  • Repulsive Guidance Molecule C 2 3
  • RGM Domain Family Member C 3 4
  • HFE2 3 5
  • RGMC 3 4
  • Haemojuvelin 3
  • Hemojuvelin 3
  • HFE2A 3
  • JH 3

External Ids for HJV Gene

Previous HGNC Symbols for HJV Gene

  • HFE2

Summaries for HJV Gene

Entrez Gene Summary for HJV 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 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]

GeneCards Summary for HJV Gene

HJV (Hemojuvelin BMP Co-Receptor) is a Protein Coding gene. Diseases associated with HJV include Hemochromatosis, Type 2A and Hemochromatosis Type 2. Among its related pathways are Developmental Biology and Signaling by BMP. An important paralog of this gene is RGMA.

UniProtKB/Swiss-Prot for HJV Gene

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

Gene Wiki entry for HJV Gene

Additional gene information for HJV Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HJV Gene

Genomics for HJV Gene

GeneHancer (GH) Regulatory Elements for HJV Gene

Promoters and enhancers for HJV Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J146034 Promoter/Enhancer 1.9 Ensembl ENCODE dbSUPER 654.6 -0.8 -805 5.6 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 HJV TRE-CTC1-1 PIR58458 TRG-TCC2-1 TRH-GTG1-1 TRK-CTT2-1 GC01P146046 POLR3C PIAS3 NBPF20
GH01J146019 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 650.4 +15.4 15442 3.2 HDGF FOXA2 PKNOX1 ARNT ARID4B YY1 GTF3C2 FOS ATF7 RXRA HJV POLR3C ANKRD35 NBPF20 PIAS3 GPR89A TRE-CTC1-1 TXNIP
GH01J145990 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.8 +41.4 41404 10.5 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 NFYC MEF2D TXNIP PIR35110 POLR3C NBPF20 LIX1L-AS1 PIAS3 GPR89A ENSG00000213240 HJV RBM8A
GH01J145976 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.8 +54.5 54463 10.6 CLOCK YBX1 FEZF1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC POLR3GL NBPF20 POLR3C GPR89A PIAS3 ANKRD35 HJV RBM8A LIX1L-AS1 PEX11B
GH01J145954 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 10.7 +80.0 80047 4.2 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A YBX1 DMAP1 YY1 LIX1L LIX1L-AS1 POLR3C RBM8A GNRHR2 PEX11B TXNIP ITGA10 HJV ENSG00000213240
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HJV on UCSC Golden Path with GeneCards custom track

Genomic Locations for HJV Gene

Genomic Locations for HJV Gene
chr1:146,017,468-146,036,746
(GRCh38/hg38)
Size:
19,279 bases
Orientation:
Minus strand
chr1:145,413,095-145,417,545
(GRCh37/hg19)
Size:
4,451 bases
Orientation:
Plus strand

Genomic View for HJV Gene

Genes around HJV on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HJV Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HJV Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HJV Gene

Proteins for HJV Gene

  • Protein details for HJV Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZVN8-RGMC_HUMAN
    Recommended name:
    Hemojuvelin
    Protein Accession:
    Q6ZVN8
    Secondary Accessions:
    • B1ALI7
    • Q2PQ63
    • Q6IMF6
    • Q8NAH2
    • Q8WVJ5

    Protein attributes for HJV Gene

    Size:
    426 amino acids
    Molecular mass:
    45080 Da
    Quaternary structure:
    • Interacts with BMP2 and BMP4 (By similarity). Interacts with BMPR1B. Interacts with TMPRSS6.

    Three dimensional structures from OCA and Proteopedia for HJV Gene

    Alternative splice isoforms for HJV Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HJV Gene

Post-translational modifications for HJV Gene

  • Autocatalytically cleaved at low pH; the two chains remain linked via two disulfide bonds. Also proteolytically processed by TMPRSS6, several fragments being released in the extracellular space; regulates HFE2 activity in BMP signaling and thefore iron homeostasis.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HJV Gene

Domains & Families for HJV Gene

Gene Families for HJV Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for HJV Gene

Suggested Antigen Peptide Sequences for HJV Gene

Graphical View of Domain Structure for InterPro Entry

Q6ZVN8

UniProtKB/Swiss-Prot:

RGMC_HUMAN :
  • Belongs to the repulsive guidance molecule (RGM) family.
Family:
  • Belongs to the repulsive guidance molecule (RGM) family.
genes like me logo Genes that share domains with HJV: view

Function for HJV Gene

Molecular function for HJV Gene

UniProtKB/Swiss-Prot Function:
Acts as a bone morphogenetic protein (BMP) coreceptor. Through enhancement of BMP signaling regulates hepcidin (HAMP) expression and regulates iron homeostasis.

Phenotypes From GWAS Catalog for HJV Gene

Gene Ontology (GO) - Molecular Function for HJV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IPI 18326817
GO:0005515 protein binding IPI 18335997
GO:0015026 coreceptor activity IEA,IDA 16604073
GO:0036122 BMP binding IEA,IPI 18335997
GO:0098821 contributes_to BMP receptor activity IDA 16604073
genes like me logo Genes that share ontologies with HJV: view
genes like me logo Genes that share phenotypes with HJV: view

Human Phenotype Ontology for HJV Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HJV Gene

MGI Knock Outs for HJV:
  • Hfe2 Hfe2<tm1Arbr>
  • Hfe2 Hfe2<tm1Nca>
  • Hfe2 Hfe2<tm1b(KOMP)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for HJV

miRNA for HJV Gene

miRTarBase miRNAs that target HJV

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HJV

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for HJV Gene

Localization for HJV Gene

Subcellular locations from UniProtKB/Swiss-Prot for HJV Gene

Cell membrane; Lipid-anchor, GPI-anchor. Note=Also released in the extracellular space. {ECO:0000269 PubMed:25156943}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HJV gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 1

Gene Ontology (GO) - Cellular Components for HJV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 17938254
GO:0005886 plasma membrane IDA 16075058
GO:0009986 cell surface IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with HJV: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HJV Gene

Pathways & Interactions for HJV Gene

genes like me logo Genes that share pathways with HJV: view

Pathways by source for HJV Gene

2 BioSystems pathways for HJV Gene
3 Reactome pathways for HJV Gene

Gene Ontology (GO) - Biological Process for HJV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II ISS --
GO:0006879 cellular iron ion homeostasis ISS --
GO:0016540 protein autoprocessing IMP 18335997
GO:0030509 BMP signaling pathway IMP,IEA 16604073
GO:0030514 negative regulation of BMP signaling pathway IEA --
genes like me logo Genes that share ontologies with HJV: view

No data available for SIGNOR curated interactions for HJV Gene

Drugs & Compounds for HJV Gene

(1) Drugs for HJV Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for HJV Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • FE (II) ion
  • Fe(II)
  • Fe(2+)
  • Ferrous ion
  • Iron ion(2+)
15438-31-0
genes like me logo Genes that share compounds with HJV: view

Transcripts for HJV Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HJV

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HJV Gene

No ASD Table

Relevant External Links for HJV Gene

GeneLoc Exon Structure for
HJV
ECgene alternative splicing isoforms for
HJV

Expression for HJV Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of HJV Gene:

HJV

mRNA Expression by UniProt/SwissProt for HJV Gene:

Q6ZVN8-RGMC_HUMAN
Tissue specificity: Adult and fetal liver, heart, and skeletal muscle.

Evidence on tissue expression from TISSUES for HJV Gene

  • Liver(4.7)
  • Muscle(4.6)
  • Nervous system(4.1)
  • Heart(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HJV Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • mouth
  • pituitary gland
  • salivary gland
Thorax:
  • breast
  • esophagus
  • heart
  • heart valve
Abdomen:
  • kidney
  • liver
  • pancreas
  • spleen
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with HJV: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for HJV Gene

Orthologs for HJV Gene

This gene was present in the common ancestor of animals.

Orthologs for HJV Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HFE2 34 33
  • 99.67 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HFE2 34 33
  • 91.25 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HFE2 34 33
  • 90.5 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hfe2 33
  • 84.44 (n)
mouse
(Mus musculus)
Mammalia Hfe2 16 34 33
  • 84.09 (n)
oppossum
(Monodelphis domestica)
Mammalia HFE2 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HFE2 34
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 57 (a)
OneToMany
-- 34
  • 55 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia hfe2 33
  • 62.1 (n)
zebrafish
(Danio rerio)
Actinopterygii hfe2 34 33
  • 55.49 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea drag-1 34
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
OneToMany
Species where no ortholog for HJV was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HJV Gene

ENSEMBL:
Gene Tree for HJV (if available)
TreeFam:
Gene Tree for HJV (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HJV: view image

Paralogs for HJV Gene

Paralogs for HJV Gene

genes like me logo Genes that share paralogs with HJV: view

Variants for HJV Gene

Sequence variations from dbSNP and Humsavar for HJV Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs111753853 uncertain-significance, Juvenile hemochromatosis 146,021,632(-) A/G 5_prime_UTR_variant
rs12025510 benign, Hemochromatosis type 2A 146,020,223(-) C/G 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant
rs121434374 pathogenic, Hemochromatosis type 2A, Hemochromatosis type 1, Hemochromatosis 2A (HFE2A) [MIM:602390] 146,018,395(-) G/C/T coding_sequence_variant, missense_variant, stop_gained
rs121434375 pathogenic, Hemochromatosis type 2A 146,019,672(-) T/A 5_prime_UTR_variant, coding_sequence_variant, intron_variant, stop_gained
rs140919572 uncertain-significance, Juvenile hemochromatosis 146,018,530(-) G/T coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for HJV Gene

Variant ID Type Subtype PubMed ID
nsv1005055 CNV loss 25217958
nsv2699 CNV insertion 18451855
nsv509457 CNV insertion 20534489
nsv831359 CNV loss 17160897

Variation tolerance for HJV Gene

Residual Variation Intolerance Score: 33.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.70; 57.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HJV Gene

Human Gene Mutation Database (HGMD)
HJV
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HJV

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HJV Gene

Disorders for HJV Gene

MalaCards: The human disease database

(14) MalaCards diseases for HJV Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search HJV in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RGMC_HUMAN
  • Hemochromatosis 2A (HFE2A) [MIM:602390]: A juvenile form of hemochromatosis, a disorder of iron metabolism with excess deposition of iron in a variety of organs leading to their failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of juvenile hemochromatosis at presentation are hypogonadism and cardiomyopathy. {ECO:0000269 PubMed:14647275, ECO:0000269 PubMed:14982867, ECO:0000269 PubMed:14982873, ECO:0000269 PubMed:15461631}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with HJV: view

No data available for Genatlas for HJV Gene

Publications for HJV Gene

  1. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. (PMID: 14647275) Papanikolaou G … Goldberg YP (Nature genetics 2004) 2 3 4 22 58
  2. Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia. (PMID: 19357398) Silvestri L … Grandchamp B (Blood 2009) 3 4 22 58
  3. Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression. (PMID: 16604073) Babitt JL … Lin HY (Nature genetics 2006) 3 4 22 58
  4. Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. (PMID: 14982867) Lee PL … Barton JC (Blood 2004) 3 4 22 58
  5. Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. (PMID: 14982873) Lanzara C … Camaschella C (Blood 2004) 3 4 22 58

Products for HJV Gene

Sources for HJV Gene

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