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HJV (hemojuvelin BMP co-receptor)

Identity

Other aliasHFE2
HFE2A
JH
RGMC
HGNC (Hugo) HJV
LocusID (NCBI) 148738
Atlas_Id 57375
Location 1q21.1  [Link to chromosome band 1q21]
Location_base_pair Starts at 146017468 and ends at 146021822 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute


External links

Nomenclature
HGNC (Hugo)HJV   4887
Cards
Entrez_Gene (NCBI)HJV  148738  hemojuvelin BMP co-receptor
AliasesHFE2; HFE2A; JH; RGMC
GeneCards (Weizmann)HJV
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View] [Sequence]  chr1:146017468-146021822 [Contig_View]  HJV [Vega]
TCGA cBioPortalHJV
AceView (NCBI)HJV
Genatlas (Paris)HJV
WikiGenes148738
SOURCE (Princeton)HJV
Genetics Home Reference (NIH)HJV
Genomic and cartography
GoldenPath hg38 (UCSC)HJV  -     chr1:146017468-146021822 -  1q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HJV  -     1q21.1   [Description]    (hg19-Feb_2009)
EnsemblHJV - 1q21.1 [CytoView hg19]  HJV - 1q21.1 [CytoView hg38]
Mapping of homologs : NCBIHJV [Mapview hg19]  HJV [Mapview hg38]
OMIM602390   608374   
Gene and transcription
Genbank (Entrez)AA479148 AK092682 AK092692 AK096905 AK124273
RefSeq transcript (Entrez)NM_001316767 NM_145277 NM_202004 NM_213652 NM_213653
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HJV
Cluster EST : UnigeneHs.632436 [ NCBI ]
CGAP (NCI)Hs.632436
Gene ExpressionHJV [ NCBI-GEO ]   HJV [ EBI - ARRAY_EXPRESS ]   HJV [ SEEK ]   HJV [ MEM ]
Gene Expression Viewer (FireBrowse)HJV [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)148738
GTEX Portal (Tissue expression)HJV
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6ZVN8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6ZVN8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6ZVN8
Splice isoforms : SwissVarQ6ZVN8
PhosPhoSitePlusQ6ZVN8
Domains : Interpro (EBI)Hemojuvelin    RGM_C    RGM_N   
Domain families : Pfam (Sanger)RGM_C (PF06534)    RGM_N (PF06535)   
Domain families : Pfam (NCBI)pfam06534    pfam06535   
Conserved Domain (NCBI)HJV
DMDM Disease mutations148738
Blocks (Seattle)HJV
PDB (SRS)4UI1   
PDB (PDBSum)4UI1   
PDB (IMB)4UI1   
PDB (RSDB)4UI1   
Structural Biology KnowledgeBase4UI1   
SCOP (Structural Classification of Proteins)4UI1   
CATH (Classification of proteins structures)4UI1   
SuperfamilyQ6ZVN8
Peptide AtlasQ6ZVN8
IPIIPI00329576   IPI00419814   IPI00400863   IPI00964537   
Protein Interaction databases
DIP (DOE-UCLA)Q6ZVN8
IntAct (EBI)Q6ZVN8
BioGRIDHJV
STRING (EMBL)HJV
ZODIACHJV
Ontologies - Pathways
QuickGOQ6ZVN8
Ontology : AmiGO###############################################################################################################################################################################################################################################################  
Ontology : EGO-EBI###############################################################################################################################################################################################################################################################  
NDEx NetworkHJV
Atlas of Cancer Signalling NetworkHJV
Wikipedia pathwaysHJV
Orthology - Evolution
OrthoDB148738
Phylogenetic Trees/Animal Genes : TreeFamHJV
HOVERGENQ6ZVN8
HOGENOMQ6ZVN8
Homologs : HomoloGeneHJV
Homology/Alignments : Family Browser (UCSC)HJV
Gene fusions - Rearrangements
Fusion : QuiverHJV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHJV [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HJV
dbVarHJV
ClinVarHJV
1000_GenomesHJV 
Exome Variant ServerHJV
Genetic variants : HAPMAP148738
Genomic Variants (DGV)HJV [DGVbeta]
DECIPHERHJV [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHJV 
Mutations
ICGC Data PortalHJV 
TCGA Data PortalHJV 
Broad Tumor PortalHJV
OASIS PortalHJV [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDHJV
BioMutasearch HJV
DgiDB (Drug Gene Interaction Database)HJV
DoCM (Curated mutations)HJV (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HJV (select a term)
intoGenHJV
Cancer3DHJV(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602390    608374   
Orphanet
DisGeNETHJV
MedgenHJV
Genetic Testing Registry HJV
NextProtQ6ZVN8 [Medical]
TSGene148738
GENETestsHJV
Target ValidationHJV
Huge Navigator HJV [HugePedia]
snp3D : Map Gene to Disease148738
BioCentury BCIQHJV
ClinGenHJV
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD148738
Chemical/Pharm GKB GenePA29264
Clinical trialHJV
Miscellaneous
canSAR (ICR)HJV (select the gene name)
Probes
Litterature
PubMed1 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHJV
EVEXHJV
GoPubMedHJV
iHOPHJV
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jun 21 16:54:01 CEST 2018

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