Human Gene HNF4G (uc003yaq.3) Description and Page Index
  Description: Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr8:76,320,271-76,479,061 Size: 158,791 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr8:76,456,069-76,476,331 Size: 20,263 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:76,320,271-76,479,061)mRNA (may differ from genome)Protein (408 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: HNF4G_HUMAN
DESCRIPTION: RecName: Full=Hepatocyte nuclear factor 4-gamma; Short=HNF-4-gamma; AltName: Full=Nuclear receptor subfamily 2 group A member 2;
FUNCTION: Transcription factor. Has a lower transcription activation potential than HNF4-alpha.
SUBCELLULAR LOCATION: Nucleus (By similarity).
TISSUE SPECIFICITY: Expressed in pancreas, kidney, small intestine and testis. Weakly expressed in colon. Not expressed in liver, skeletal muscle, lung, placenta, brain, heart, peripheral blood, ovary, prostate, thymus and spleen.
SIMILARITY: Belongs to the nuclear hormone receptor family. NR2 subfamily.
SIMILARITY: Contains 1 nuclear receptor DNA-binding domain.
SEQUENCE CAUTION: Sequence=CAE11875.1; Type=Erroneous initiation;
WEB RESOURCE: Name=Wikipedia; Note=Hepatocyte nuclear factors entry; URL="http://en.wikipedia.org/wiki/Hepatocyte_nuclear_factors";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): HNF4G
CDC HuGE Published Literature: HNF4G
Positive Disease Associations: Body Mass Index , Breath Tests , Cholesterol, HDL , E-Selectin , Echocardiography , Electrocardiography , Glucose , Iron , Lipids , Pancreatic Neoplasms , Stroke , Triglycerides
Related Studies:
  1. Body Mass Index
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
  2. Body Mass Index
    Elizabeth K Speliotes et al. Nature genetics 2010, Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index., Nature genetics. [PubMed 20935630]
  3. Breath Tests
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: HNF4G
Diseases sorted by gene-association score: maturity-onset diabetes of the young (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 22.88 RPKM in Small Intestine - Terminal Ileum
Total median expression: 41.19 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -88.70270-0.329 Picture PostScript Text
3' UTR -662.732730-0.243 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003068 - COUP_TF
IPR008946 - Nucl_hormone_rcpt_ligand-bd
IPR000536 - Nucl_hrmn_rcpt_lig-bd_core
IPR001723 - Str_hrmn_rcpt
IPR001628 - Znf_hrmn_rcpt
IPR013088 - Znf_NHR/GATA

Pfam Domains:
PF00104 - Ligand-binding domain of nuclear hormone receptor
PF00105 - Zinc finger, C4 type (two domains)

SCOP Domains:
48508 - Nuclear receptor ligand-binding domain
57716 - Glucocorticoid receptor-like (DNA-binding domain)

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1LV2
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q14541
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003707 steroid hormone receptor activity
GO:0004879 RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding
GO:0008270 zinc ion binding
GO:0043565 sequence-specific DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0030522 intracellular receptor signaling pathway
GO:0043401 steroid hormone mediated signaling pathway
GO:0045944 positive regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm


-  Descriptions from all associated GenBank mRNAs
  BC054009 - Homo sapiens hepatocyte nuclear factor 4, gamma, mRNA (cDNA clone IMAGE:6615869), partial cds.
Z49826 - Homo sapiens mRNA for hepatocyte nuclear factor 4 gamma.
JD408545 - Sequence 389569 from Patent EP1572962.
JD462761 - Sequence 443785 from Patent EP1572962.
BX571750 - Homo sapiens mRNA; cDNA DKFZp686E14224 (from clone DKFZp686E14224).
EU832451 - Synthetic construct Homo sapiens clone HAIB:100067480; DKFZo008A1029 hepatocyte nuclear factor 4, gamma protein (HNF4G) gene, encodes complete protein.
HQ692842 - Homo sapiens hepatocyte nuclear factor 4 gamma (NR2A2) mRNA, complete cds.
BC105009 - Homo sapiens hepatocyte nuclear factor 4, gamma, mRNA (cDNA clone MGC:132669 IMAGE:8144012), complete cds.
BC105011 - Homo sapiens hepatocyte nuclear factor 4, gamma, mRNA (cDNA clone MGC:132671 IMAGE:8144014), complete cds.
JD046458 - Sequence 27482 from Patent EP1572962.
CR542091 - Homo sapiens full open reading frame cDNA clone RZPDo834C0537D for gene HNF4G, hepatocyte nuclear factor 4, gamma; complete cds, without stopcodon.
AB307704 - Homo sapiens NR2A3 mRNA for hepatocyte nuclear factor 4, gamma, complete cds.
JD494798 - Sequence 475822 from Patent EP1572962.
JD381081 - Sequence 362105 from Patent EP1572962.
JD092397 - Sequence 73421 from Patent EP1572962.
JD042175 - Sequence 23199 from Patent EP1572962.
JD509865 - Sequence 490889 from Patent EP1572962.
AK025222 - Homo sapiens cDNA: FLJ21569 fis, clone COL06508.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04950 - Maturity onset diabetes of the young

Reactome (by CSHL, EBI, and GO)

Protein Q14541 (Reactome details) participates in the following event(s):

R-HSA-376419 Formation of NR-MED1 Coactivator Complex
R-HSA-210745 Regulation of gene expression in beta cells
R-HSA-383280 Nuclear Receptor transcription pathway
R-HSA-186712 Regulation of beta-cell development
R-HSA-212436 Generic Transcription Pathway
R-HSA-1266738 Developmental Biology
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: HNF4G_HUMAN, NM_004133, NP_004124, NR2A2, Q14541, Q7Z2V9, Q9UH81, Q9UIS6, Z49826
UCSC ID: uc003yaq.3
RefSeq Accession: NM_004133
Protein: Q14541 (aka HNF4G_HUMAN or HN4G_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: Z49826.2
exon count: 11CDS single in 3' UTR: no RNA size: 1731
ORF size: 1227CDS single in intron: no Alignment % ID: 99.59
txCdsPredict score: 2654.00frame shift in genome: no % Coverage: 99.83
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.