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    HNF4G hepatocyte nuclear factor 4 gamma [ Homo sapiens (human) ]

    Gene ID: 3174, updated on 14-Nov-2024

    Summary

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    Official Symbol
    HNF4Gprovided by HGNC
    Official Full Name
    hepatocyte nuclear factor 4 gammaprovided by HGNC
    Primary source
    HGNC:HGNC:5026
    See related
    Ensembl:ENSG00000164749 MIM:605966; AllianceGenome:HGNC:5026
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NR2A2; NR2A3
    Summary
    Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in several cellular components, including intercellular bridge; mitotic spindle; and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in small intestine (RPKM 55.0), duodenum (RPKM 46.4) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HNF4G in Genome Data Viewer
    Location:
    8q21.13
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (75407649..75566834)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (75837130..75996323)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (76319884..76479069)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene HIG1 hypoxia inducible domain family member 1A pseudogene 6 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:76312357-76313556 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:76316733-76317554 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:76319179-76319926 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19302 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19303 Neighboring gene pyruvate kinase M1/2 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27543 Neighboring gene NANOG hESC enhancer GRCh37_chr8:76607676-76608177 Neighboring gene small nucleolar RNA U13 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:76887738-76888333 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:76888521-76889174 Neighboring gene uncharacterized LOC105375906 Neighboring gene VISTA enhancer hs891

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Hepatocyte nuclear factor 4 gamma (HNF4G) is correlated with poor prognosis and promotes tumor cell growth by inhibiting caspase-dependent intrinsic apoptosis in colorectal cancer. Chen L, et al. Eur J Pharmacol, 2022 Feb 5. PMID 34965388
    2. [Expression of hepatocyte nuclear factor 4γ in gastric carcinoma and its role in cell proliferation and stemness]. Jia YX, et al. Zhonghua Zhong Liu Za Zhi, 2021 Nov 23. PMID 34794218
    3. Hepatocyte nuclear factor-4gamma: cDNA sequence, gene organization, and mutation screening in early-onset autosomal-dominant type 2 diabetes. Plengvidhya N, et al. Diabetes, 1999 Oct. PMID 10512380
    4. TT genotype of rs2941484 in the human HNF4G gene is associated with hyperuricemia in Chinese Han men. Chen BD, et al. Oncotarget, 2017 Apr 18. PMID 28460474, Free PMC Article
    5. Human hepatocyte nuclear factor 4 isoforms are encoded by distinct and differentially expressed genes. Drewes T, et al. Mol Cell Biol, 1996 Mar. PMID 8622695, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HNF4G stimulates the development of pancreatic cancer by promoting IGF2BP2 transcription.
      Title: HNF4G stimulates the development of pancreatic cancer by promoting IGF2BP2 transcription.
    2. Hepatocyte nuclear factor 4 gamma (HNF4G) is correlated with poor prognosis and promotes tumor cell growth by inhibiting caspase-dependent intrinsic apoptosis in colorectal cancer.
      Title: Hepatocyte nuclear factor 4 gamma (HNF4G) is correlated with poor prognosis and promotes tumor cell growth by inhibiting caspase-dependent intrinsic apoptosis in colorectal cancer.
    3. [Expression of hepatocyte nuclear factor 4gamma in gastric carcinoma and its role in cell proliferation and stemness].
      Title: [Expression of hepatocyte nuclear factor 4γ in gastric carcinoma and its role in cell proliferation and stemness].
    4. microRNA-320b suppresses HNF4G and IGF2BP2 expression to inhibit angiogenesis and tumor growth of lung cancer.
      Title: microRNA-320b suppresses HNF4G and IGF2BP2 expression to inhibit angiogenesis and tumor growth of lung cancer.
    5. Metformin inhibits pancreatic cancer metastasis caused by SMAD4 deficiency and consequent HNF4G upregulation.
      Title: Metformin inhibits pancreatic cancer metastasis caused by SMAD4 deficiency and consequent HNF4G upregulation.
    6. The HNF4gamma whose expression was increased contained two variants.
      Title: Induction of Hepatic Metabolic Functions by a Novel Variant of Hepatocyte Nuclear Factor 4γ.
    7. The present data indicates that TT genotype of rs2941484 in the human HNF4G gene might be a gender-specific genetic marker for hyperuricemia in Chinese Han men.
      Title: TT genotype of rs2941484 in the human HNF4G gene is associated with hyperuricemia in Chinese Han men.
    8. Single nucleotide polymorphisms in HNF4G gene is associated with obesity.
      Title: Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    9. Heterodimerization of HNF4alpha and HNF4gamma was found
      Title: Proteomic analysis of native hepatocyte nuclear factor-4α (HNF4α) isoforms, phosphorylation status, and interactive cofactors.
    10. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Systematic association mapping identifies NELL1 as a novel IBD disease gene.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    EBI GWAS Catalog
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables nuclear receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in intercellular bridge IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitotic spindle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    hepatocyte nuclear factor 4-gamma
    Names
    HNF-4-gamma
    nuclear receptor subfamily 2 group A member 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001330561.2 → NP_001317490.1  hepatocyte nuclear factor 4-gamma isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC021500, AC040917, AC105218
      Consensus CDS
      CCDS83303.1
      UniProtKB/Swiss-Prot
      Q14541, Q7Z2V9, Q9UH81, Q9UIS6
      UniProtKB/TrEMBL
      B6ZGT4
      Conserved Domains (2) summary
      cd06931
      Location:103 → 324
      NR_LBD_HNF4_like; The ligand binding domain of heptocyte nuclear factor 4, which is explosively expanded in nematodes
      cd06960
      Location:12 → 87
      NR_DBD_HNF4A; DNA-binding domain of heptocyte nuclear factor 4 (HNF4) is composed of two C4-type zinc fingers

    2. NM_004133.5 → NP_004124.5  hepatocyte nuclear factor 4-gamma isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC040917, BX571750
      Consensus CDS
      CCDS6220.3
      UniProtKB/TrEMBL
      A0A6E1WB48, F1D8Q4
      Related
      ENSP00000379701.3, ENST00000396423.4
      Conserved Domains (2) summary
      cd06931
      Location:150 → 371
      NR_LBD_HNF4_like; The ligand binding domain of heptocyte nuclear factor 4, which is explosively expanded in nematodes
      cd06960
      Location:59 → 134
      NR_DBD_HNF4A; DNA-binding domain of heptocyte nuclear factor 4 (HNF4) is composed of two C4-type zinc fingers

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      75407649..75566834
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013373.2 → XP_016868862.1  hepatocyte nuclear factor 4-gamma isoform X1

      UniProtKB/Swiss-Prot
      Q14541, Q7Z2V9, Q9UH81, Q9UIS6
      UniProtKB/TrEMBL
      B6ZGT4
      Conserved Domains (2) summary
      cd06931
      Location:103 → 324
      NR_LBD_HNF4_like; The ligand binding domain of heptocyte nuclear factor 4, which is explosively expanded in nematodes
      cd06960
      Location:12 → 87
      NR_DBD_HNF4A; DNA-binding domain of heptocyte nuclear factor 4 (HNF4) is composed of two C4-type zinc fingers

    2. XM_017013374.2 → XP_016868863.1  hepatocyte nuclear factor 4-gamma isoform X1

      UniProtKB/Swiss-Prot
      Q14541, Q7Z2V9, Q9UH81, Q9UIS6
      UniProtKB/TrEMBL
      B6ZGT4
      Conserved Domains (2) summary
      cd06931
      Location:103 → 324
      NR_LBD_HNF4_like; The ligand binding domain of heptocyte nuclear factor 4, which is explosively expanded in nematodes
      cd06960
      Location:12 → 87
      NR_DBD_HNF4A; DNA-binding domain of heptocyte nuclear factor 4 (HNF4) is composed of two C4-type zinc fingers

    3. XM_017013375.2 → XP_016868864.1  hepatocyte nuclear factor 4-gamma isoform X1

      UniProtKB/Swiss-Prot
      Q14541, Q7Z2V9, Q9UH81, Q9UIS6
      UniProtKB/TrEMBL
      B6ZGT4
      Related
      ENSP00000346339.1, ENST00000354370.5
      Conserved Domains (2) summary
      cd06931
      Location:103 → 324
      NR_LBD_HNF4_like; The ligand binding domain of heptocyte nuclear factor 4, which is explosively expanded in nematodes
      cd06960
      Location:12 → 87
      NR_DBD_HNF4A; DNA-binding domain of heptocyte nuclear factor 4 (HNF4) is composed of two C4-type zinc fingers

    4. XM_047421737.1 → XP_047277693.1  hepatocyte nuclear factor 4-gamma isoform X1

      UniProtKB/Swiss-Prot
      Q14541, Q7Z2V9, Q9UH81, Q9UIS6

    5. XM_017013376.3 → XP_016868865.1  hepatocyte nuclear factor 4-gamma isoform X1

      UniProtKB/Swiss-Prot
      Q14541, Q7Z2V9, Q9UH81, Q9UIS6
      UniProtKB/TrEMBL
      B6ZGT4
      Conserved Domains (2) summary
      cd06931
      Location:103 → 324
      NR_LBD_HNF4_like; The ligand binding domain of heptocyte nuclear factor 4, which is explosively expanded in nematodes
      cd06960
      Location:12 → 87
      NR_DBD_HNF4A; DNA-binding domain of heptocyte nuclear factor 4 (HNF4) is composed of two C4-type zinc fingers

    6. XM_047421738.1 → XP_047277694.1  hepatocyte nuclear factor 4-gamma isoform X1

      UniProtKB/Swiss-Prot
      Q14541, Q7Z2V9, Q9UH81, Q9UIS6

    7. XM_047421739.1 → XP_047277695.1  hepatocyte nuclear factor 4-gamma isoform X1

      UniProtKB/Swiss-Prot
      Q14541, Q7Z2V9, Q9UH81, Q9UIS6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      75837130..75996323
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360393.1 → XP_054216368.1  hepatocyte nuclear factor 4-gamma isoform X1

      UniProtKB/Swiss-Prot
      Q14541, Q7Z2V9, Q9UH81, Q9UIS6

    2. XM_054360394.1 → XP_054216369.1  hepatocyte nuclear factor 4-gamma isoform X1

      UniProtKB/Swiss-Prot
      Q14541, Q7Z2V9, Q9UH81, Q9UIS6

    3. XM_054360395.1 → XP_054216370.1  hepatocyte nuclear factor 4-gamma isoform X1

      UniProtKB/Swiss-Prot
      Q14541, Q7Z2V9, Q9UH81, Q9UIS6

    4. XM_054360396.1 → XP_054216371.1  hepatocyte nuclear factor 4-gamma isoform X1

      UniProtKB/Swiss-Prot
      Q14541, Q7Z2V9, Q9UH81, Q9UIS6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14541.3 GenPept UniProtKB/Swiss-Prot:Q14541

    Gene LinkOut

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