Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HNF4A (hepatocyte nuclear factor 4, alpha)

Identity

Other namesFRTS4
HNF4
HNF4a7
HNF4a8
HNF4a9
HNF4alpha
MODY
MODY1
NR2A1
NR2A21
TCF
TCF14
HGNC (Hugo) HNF4A
LocusID (NCBI) 3172
Atlas_Id 44014
Location 20q13.12
Location_base_pair Starts at 43029896 and ends at 43061485 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2015)
SLCO2B1 11q13.4 / HNF4A 20q13.12

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [36219+1]
  dic(17;20)(p11.2;q11.2)

Other Solid tumors implicated (Data extracted from papers in the Atlas)
  Skin: Pilomatricoma

External links

Nomenclature
HGNC (Hugo)HNF4A   5024
Cards
Entrez_Gene (NCBI)HNF4A  3172  hepatocyte nuclear factor 4, alpha
GeneCards (Weizmann)HNF4A
Ensembl hg19 (Hinxton)ENSG00000101076 [Gene_View]  chr20:43029896-43061485 [Contig_View]  HNF4A [Vega]
Ensembl hg38 (Hinxton)ENSG00000101076 [Gene_View]  chr20:43029896-43061485 [Contig_View]  HNF4A [Vega]
ICGC DataPortalENSG00000101076
TCGA cBioPortalHNF4A
AceView (NCBI)HNF4A
Genatlas (Paris)HNF4A
WikiGenes3172
SOURCE (Princeton)HNF4A
Genomic and cartography
GoldenPath hg19 (UCSC)HNF4A  -     chr20:43029896-43061485 +  20q13.12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HNF4A  -     20q13.12   [Description]    (hg38-Dec_2013)
EnsemblHNF4A - 20q13.12 [CytoView hg19]  HNF4A - 20q13.12 [CytoView hg38]
Mapping of homologs : NCBIHNF4A [Mapview hg19]  HNF4A [Mapview hg38]
OMIM125850   125853   600281   616026   
Gene and transcription
Genbank (Entrez)AB307703 AK096973 AW134564 AW935533 AY680696
RefSeq transcript (Entrez)NM_000457 NM_001030003 NM_001030004 NM_001258355 NM_001287182 NM_001287183 NM_001287184 NM_175914 NM_178849 NM_178850
RefSeq genomic (Entrez)NC_000020 NC_018931 NG_009818 NT_011362 NW_004929418
Consensus coding sequences : CCDS (NCBI)HNF4A
Cluster EST : UnigeneHs.116462 [ NCBI ]
CGAP (NCI)Hs.116462
Alternative Splicing : Fast-db (Paris)GSHG0018767
Alternative Splicing GalleryENSG00000101076
Gene ExpressionHNF4A [ NCBI-GEO ]     HNF4A [ SEEK ]   HNF4A [ MEM ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)3172
Protein : pattern, domain, 3D structure
UniProt/SwissProtP41235 (Uniprot)
NextProtP41235  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP41235
Splice isoforms : SwissVarP41235 (Swissvar)
PhosPhoSitePlusP41235
Domaine pattern : Prosite (Expaxy)NUCLEAR_REC_DBD_1 (PS00031)    NUCLEAR_REC_DBD_2 (PS51030)   
Domains : Interpro (EBI)COUP_TF    Nucl_hormone_rcpt_ligand-bd    Nucl_hrmn_rcpt_lig-bd_core    Str_hrmn_rcpt    Znf_hrmn_rcpt    Znf_NHR/GATA   
Domain families : Pfam (Sanger)Hormone_recep (PF00104)    zf-C4 (PF00105)   
Domain families : Pfam (NCBI)pfam00104    pfam00105   
Domain families : Smart (EMBL)HOLI (SM00430)  ZnF_C4 (SM00399)  
DMDM Disease mutations3172
Blocks (Seattle)HNF4A
PDB (SRS)1PZL    3CBB    3FS1    4B7W    4IQR   
PDB (PDBSum)1PZL    3CBB    3FS1    4B7W    4IQR   
PDB (IMB)1PZL    3CBB    3FS1    4B7W    4IQR   
PDB (RSDB)1PZL    3CBB    3FS1    4B7W    4IQR   
Structural Biology KnowledgeBase1PZL    3CBB    3FS1    4B7W    4IQR   
SCOP (Structural Classification of Proteins)1PZL    3CBB    3FS1    4B7W    4IQR   
CATH (Classification of proteins structures)1PZL    3CBB    3FS1    4B7W    4IQR   
Human Protein AtlasENSG00000101076
Peptide AtlasP41235
HPRD02612
IPIIPI00013196   IPI00216080   IPI00641248   IPI00412368   IPI00847265   IPI00645235   IPI00300558   IPI00945710   
Protein Interaction databases
DIP (DOE-UCLA)P41235
IntAct (EBI)P41235
FunCoupENSG00000101076
BioGRIDHNF4A
IntegromeDBHNF4A
STRING (EMBL)HNF4A
ZODIACHNF4A
Ontologies - Pathways
QuickGOP41235
Ontology : AmiGORNA polymerase II core promoter sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II activating transcription factor binding  DNA binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  steroid hormone receptor activity  RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding  receptor binding  fatty acid binding  protein binding  nucleus  nucleoplasm  cytoplasm  regulation of transcription from RNA polymerase II promoter  regulation of transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  ornithine metabolic process  lipid metabolic process  xenobiotic metabolic process  sex differentiation  blood coagulation  zinc ion binding  negative regulation of cell proliferation  response to glucose  gene expression  regulation of gastrulation  regulation of lipid metabolic process  signal transduction involved in regulation of gene expression  negative regulation of cell growth  intracellular receptor signaling pathway  endocrine pancreas development  glucose homeostasis  protein homodimerization activity  steroid hormone mediated signaling pathway  transcription regulatory region DNA binding  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  regulation of insulin secretion  lipid homeostasis  phospholipid homeostasis  SMAD protein signal transduction  regulation of growth hormone receptor signaling pathway  triglyceride homeostasis  positive regulation of cholesterol homeostasis  
Ontology : EGO-EBIRNA polymerase II core promoter sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II activating transcription factor binding  DNA binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  steroid hormone receptor activity  RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding  receptor binding  fatty acid binding  protein binding  nucleus  nucleoplasm  cytoplasm  regulation of transcription from RNA polymerase II promoter  regulation of transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  ornithine metabolic process  lipid metabolic process  xenobiotic metabolic process  sex differentiation  blood coagulation  zinc ion binding  negative regulation of cell proliferation  response to glucose  gene expression  regulation of gastrulation  regulation of lipid metabolic process  signal transduction involved in regulation of gene expression  negative regulation of cell growth  intracellular receptor signaling pathway  endocrine pancreas development  glucose homeostasis  protein homodimerization activity  steroid hormone mediated signaling pathway  transcription regulatory region DNA binding  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  regulation of insulin secretion  lipid homeostasis  phospholipid homeostasis  SMAD protein signal transduction  regulation of growth hormone receptor signaling pathway  triglyceride homeostasis  positive regulation of cholesterol homeostasis  
Pathways : KEGGMaturity onset diabetes of the young   
Protein Interaction DatabaseHNF4A
Atlas of Cancer Signalling NetworkHNF4A
Wikipedia pathwaysHNF4A
Orthology - Evolution
OrthoDB3172
GeneTree (enSembl)ENSG00000101076
Phylogenetic Trees/Animal Genes : TreeFamHNF4A
Homologs : HomoloGeneHNF4A
Homology/Alignments : Family Browser (UCSC)HNF4A
Gene fusions - Rearrangements
Fusion: TCGASLCO2B1 11q13.4 HNF4A 20q13.12 KIRC
Polymorphisms : SNP, variants
NCBI Variation ViewerHNF4A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HNF4A
dbVarHNF4A
ClinVarHNF4A
1000_GenomesHNF4A 
Exome Variant ServerHNF4A
Exome Aggregation Consortium (ExAC)ENSG00000101076
SNP (GeneSNP Utah)HNF4A
SNP : HGBaseHNF4A
Genetic variants : HAPMAPHNF4A
Genomic Variants (DGV)HNF4A [DGVbeta]
Mutations
ICGC Data PortalHNF4A 
TCGA Data PortalHNF4A 
Tumor PortalHNF4A
TCGA Copy Number PortalHNF4A
Somatic Mutations in Cancer : COSMICHNF4A 
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)Monogenic Diabetes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch HNF4A
DgiDB (Drug Gene Interaction Database)HNF4A
DoCM (Curated mutations)HNF4A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HNF4A (select a term)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)20:43029896-43061485
CONAN: Copy Number AnalysisHNF4A 
Mutations and Diseases : HGMDHNF4A
OMIM125850    125853    600281    616026   
MedgenHNF4A
NextProtP41235 [Medical]
TSGene3172
GENETestsHNF4A
Huge Navigator HNF4A [HugePedia]  HNF4A [HugeCancerGEM]
snp3D : Map Gene to Disease3172
BioCentury BCIQHNF4A
General knowledge
Chemical/Protein Interactions : CTD3172
Chemical/Pharm GKB GenePA29349
Clinical trialHNF4A
Other databases
Probes
Litterature
PubMed393 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHNF4A
GoPubMedHNF4A
iHOPHNF4A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jan 16 18:46:45 CET 2016

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