Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HFE2 (hemochromatosis type 2 (juvenile))

Identity

Other namesHFE2A
HJV
JH
RGMC
HGNC (Hugo) HFE2
LocusID (NCBI) 148738
Atlas_Id 52515
Location 1q21.1  [Link to chromosome band 1q21]
Location_base_pair Starts at 145413191 and ends at 145417545 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
BCL2 (18q21.33) / HFE2 (1q21.1)EFNA3 (1q22) / HFE2 (1q21.1)HFE2 (1q21.1) / BCL2 (18q21.33)
HFE2 (1q21.1) / MYC (8q24.21)LRBA (4q31.3) / HFE2 (1q21.1)EFNA3 1q22 / HFE2 1q21.1
LRBA 4q31.3 / HFE2 1q21.1

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

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)HFE2   4887
Cards
Entrez_Gene (NCBI)HFE2  148738  hemochromatosis type 2 (juvenile)
AliasesHFE2A; HJV; JH; RGMC
GeneCards (Weizmann)HFE2
Ensembl hg19 (Hinxton)ENSG00000168509 [Gene_View]  chr1:145413191-145417545 [Contig_View]  HFE2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000168509 [Gene_View]  chr1:145413191-145417545 [Contig_View]  HFE2 [Vega]
ICGC DataPortalENSG00000168509
TCGA cBioPortalHFE2
AceView (NCBI)HFE2
Genatlas (Paris)HFE2
WikiGenes148738
SOURCE (Princeton)HFE2
Genomic and cartography
GoldenPath hg19 (UCSC)HFE2  -     chr1:145413191-145417545 +  1q21.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HFE2  -     1q21.1   [Description]    (hg38-Dec_2013)
EnsemblHFE2 - 1q21.1 [CytoView hg19]  HFE2 - 1q21.1 [CytoView hg38]
Mapping of homologs : NCBIHFE2 [Mapview hg19]  HFE2 [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)NC_000001 NC_018912 NG_011568 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)HFE2
Cluster EST : UnigeneHs.632436 [ NCBI ]
CGAP (NCI)Hs.632436
Alternative Splicing GalleryENSG00000168509
Gene ExpressionHFE2 [ NCBI-GEO ]   HFE2 [ EBI - ARRAY_EXPRESS ]   HFE2 [ SEEK ]   HFE2 [ MEM ]
Gene Expression Viewer (FireBrowse)HFE2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)148738
GTEX Portal (Tissue expression)HFE2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6ZVN8 (Uniprot)
NextProtQ6ZVN8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6ZVN8
Splice isoforms : SwissVarQ6ZVN8 (Swissvar)
PhosPhoSitePlusQ6ZVN8
Domains : Interpro (EBI)RGM_C    RGM_N   
Domain families : Pfam (Sanger)RGM_C (PF06534)    RGM_N (PF06535)   
Domain families : Pfam (NCBI)pfam06534    pfam06535   
DMDM Disease mutations148738
Blocks (Seattle)HFE2
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
Human Protein AtlasENSG00000168509
Peptide AtlasQ6ZVN8
HPRD10521
IPIIPI00329576   IPI00419814   IPI00400863   IPI00964537   
Protein Interaction databases
DIP (DOE-UCLA)Q6ZVN8
IntAct (EBI)Q6ZVN8
FunCoupENSG00000168509
BioGRIDHFE2
STRING (EMBL)HFE2
ZODIACHFE2
Ontologies - Pathways
QuickGOQ6ZVN8
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  glycoprotein binding  receptor binding  protein binding  extracellular space  plasma membrane  cellular iron ion homeostasis  cell surface  coreceptor activity  basolateral plasma membrane  protein autoprocessing  BMP signaling pathway  BMP signaling pathway  negative regulation of BMP signaling pathway  anchored component of membrane  activin receptor signaling pathway  BMP binding  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  iron ion homeostasis  iron ion homeostasis  BMP receptor complex  cellular response to BMP stimulus  plasma membrane protein complex  BMP receptor activity  transferrin receptor binding  HFE-transferrin receptor complex  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  glycoprotein binding  receptor binding  protein binding  extracellular space  plasma membrane  cellular iron ion homeostasis  cell surface  coreceptor activity  basolateral plasma membrane  protein autoprocessing  BMP signaling pathway  BMP signaling pathway  negative regulation of BMP signaling pathway  anchored component of membrane  activin receptor signaling pathway  BMP binding  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  iron ion homeostasis  iron ion homeostasis  BMP receptor complex  cellular response to BMP stimulus  plasma membrane protein complex  BMP receptor activity  transferrin receptor binding  HFE-transferrin receptor complex  
NDEx Network
Atlas of Cancer Signalling NetworkHFE2
Wikipedia pathwaysHFE2
Orthology - Evolution
OrthoDB148738
GeneTree (enSembl)ENSG00000168509
Phylogenetic Trees/Animal Genes : TreeFamHFE2
Homologs : HomoloGeneHFE2
Homology/Alignments : Family Browser (UCSC)HFE2
Gene fusions - Rearrangements
Fusion: TCGAEFNA3 1q22 HFE2 1q21.1 LUAD
Fusion: TCGALRBA 4q31.3 HFE2 1q21.1 PRAD
Polymorphisms : SNP, variants
NCBI Variation ViewerHFE2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HFE2
dbVarHFE2
ClinVarHFE2
1000_GenomesHFE2 
Exome Variant ServerHFE2
ExAC (Exome Aggregation Consortium)HFE2 (select the gene name)
Genetic variants : HAPMAP148738
Genomic Variants (DGV)HFE2 [DGVbeta]
Mutations
ICGC Data PortalHFE2 
TCGA Data PortalHFE2 
Broad Tumor PortalHFE2
OASIS PortalHFE2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHFE2 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch HFE2
DgiDB (Drug Gene Interaction Database)HFE2
DoCM (Curated mutations)HFE2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HFE2 (select a term)
intoGenHFE2
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:145413191-145417545  ENSG00000168509
CONAN: Copy Number AnalysisHFE2 
Mutations and Diseases : HGMDHFE2
OMIM602390    608374   
MedgenHFE2
Genetic Testing Registry HFE2
NextProtQ6ZVN8 [Medical]
TSGene148738
GENETestsHFE2
Huge Navigator HFE2 [HugePedia]
snp3D : Map Gene to Disease148738
BioCentury BCIQHFE2
ClinGenHFE2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD148738
Chemical/Pharm GKB GenePA29264
Clinical trialHFE2
Miscellaneous
canSAR (ICR)HFE2 (select the gene name)
Probes
Litterature
PubMed75 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHFE2
EVEXHFE2
GoPubMedHFE2
iHOPHFE2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 9 19:31:55 CEST 2016

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