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
Location 1q21.1
Location_base_pair Starts at 145413191 and ends at 145417545 bp from pter ( according to hg19-Feb_2009)
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)HFE2   4887
Cards
Entrez_Gene (NCBI)HFE2  148738  hemochromatosis type 2 (juvenile)
GeneCards (Weizmann)HFE2
Ensembl (Hinxton)ENSG00000168509 [Gene_View]  chr1:145413191-145417545 [Contig_View]  HFE2 [Vega]
ICGC DataPortalENSG00000168509
cBioPortalHFE2
AceView (NCBI)HFE2
Genatlas (Paris)HFE2
WikiGenes148738
SOURCE (Princeton)NM_145277 NM_202004 NM_213652 NM_213653
Genomic and cartography
GoldenPath (UCSC)HFE2  -  1q21.1   chr1:145413191-145417545 +  1q21.1   [Description]    (hg19-Feb_2009)
EnsemblHFE2 - 1q21.1 [CytoView]
Mapping of homologs : NCBIHFE2 [Mapview]
OMIM602390   608374   
Gene and transcription
Genbank (Entrez)AA479148 AK092682 AK092692 AK096905 AK124273
RefSeq transcript (Entrez)NM_145277 NM_202004 NM_213652 NM_213653
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_011568 NT_004487 NW_001838504 NW_004929293
Consensus coding sequences : CCDS (NCBI)HFE2
Cluster EST : UnigeneHs.632436 [ NCBI ]
CGAP (NCI)Hs.632436
Alternative Splicing : Fast-db (Paris)GSHG0000891
Alternative Splicing GalleryENSG00000168509
Gene ExpressionHFE2 [ NCBI-GEO ]     HFE2 [ SEEK ]   HFE2 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6ZVN8 (Uniprot)
NextProtQ6ZVN8  [Medical]
With graphics : InterProQ6ZVN8
Splice isoforms : SwissVarQ6ZVN8 (Swissvar)
Domains : Interpro (EBI)RGM_C [organisation]   RGM_N [organisation]  
Related proteins : CluSTrQ6ZVN8
Domain families : Pfam (Sanger)RGM_C (PF06534)    RGM_N (PF06535)   
Domain families : Pfam (NCBI)pfam06534    pfam06535   
DMDM Disease mutations148738
Blocks (Seattle)Q6ZVN8
Human Protein AtlasENSG00000168509 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ6ZVN8
HPRD10521
IPIIPI00329576   IPI00419814   IPI00400863   IPI00964537   
Protein Interaction databases
DIP (DOE-UCLA)Q6ZVN8
IntAct (EBI)Q6ZVN8
FunCoupENSG00000168509
BioGRIDHFE2
InParanoidQ6ZVN8
Interologous Interaction database Q6ZVN8
IntegromeDBHFE2
STRING (EMBL)HFE2
Ontologies - Pathways
Ontology : AmiGOprotein binding  extracellular space  plasma membrane  axon guidance  cell surface  coreceptor activity  BMP signaling pathway  anchored component of membrane  positive regulation of transcription from RNA polymerase II promoter  iron ion homeostasis  iron ion homeostasis  
Ontology : EGO-EBIprotein binding  extracellular space  plasma membrane  axon guidance  cell surface  coreceptor activity  BMP signaling pathway  anchored component of membrane  positive regulation of transcription from RNA polymerase II promoter  iron ion homeostasis  iron ion homeostasis  
Protein Interaction DatabaseHFE2
Wikipedia pathwaysHFE2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)HFE2
snp3D : Map Gene to Disease148738
SNP (GeneSNP Utah)HFE2
SNP : HGBaseHFE2
Genetic variants : HAPMAPHFE2
Exome VariantHFE2
1000_GenomesHFE2 
ICGC programENSG00000168509 
Somatic Mutations in Cancer : COSMICHFE2 
CONAN: Copy Number AnalysisHFE2 
Mutations and Diseases : HGMDHFE2
Mutations and Diseases : intOGenHFE2
Genomic VariantsHFE2  HFE2 [DGVbeta]
dbVarHFE2
ClinVarHFE2
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM602390    608374   
MedgenHFE2
GENETestsHFE2
Disease Genetic AssociationHFE2
Huge Navigator HFE2 [HugePedia]  HFE2 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneHFE2
Homology/Alignments : Family Browser (UCSC)HFE2
Phylogenetic Trees/Animal Genes : TreeFamHFE2
Chemical/Protein Interactions : CTD148738
Chemical/Pharm GKB GenePA29264
Clinical trialHFE2
Cancer Resource (Charite)ENSG00000168509
Other databases
Probes
Litterature
PubMed65 Pubmed reference(s) in Entrez
CoreMineHFE2
iHOPHFE2
OncoSearchHFE2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:49:22 CEST 2014

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