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

    Gene ID: 3174, updated on 3-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001330561.2NP_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:103324
      NR_LBD_HNF4_like; The ligand binding domain of heptocyte nuclear factor 4, which is explosively expanded in nematodes
      cd06960
      Location:1287
      NR_DBD_HNF4A; DNA-binding domain of heptocyte nuclear factor 4 (HNF4) is composed of two C4-type zinc fingers
    2. NM_004133.5NP_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:150371
      NR_LBD_HNF4_like; The ligand binding domain of heptocyte nuclear factor 4, which is explosively expanded in nematodes
      cd06960
      Location:59134
      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_017013373.2XP_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:103324
      NR_LBD_HNF4_like; The ligand binding domain of heptocyte nuclear factor 4, which is explosively expanded in nematodes
      cd06960
      Location:1287
      NR_DBD_HNF4A; DNA-binding domain of heptocyte nuclear factor 4 (HNF4) is composed of two C4-type zinc fingers
    2. XM_017013374.2XP_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:103324
      NR_LBD_HNF4_like; The ligand binding domain of heptocyte nuclear factor 4, which is explosively expanded in nematodes
      cd06960
      Location:1287
      NR_DBD_HNF4A; DNA-binding domain of heptocyte nuclear factor 4 (HNF4) is composed of two C4-type zinc fingers
    3. XM_017013375.2XP_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:103324
      NR_LBD_HNF4_like; The ligand binding domain of heptocyte nuclear factor 4, which is explosively expanded in nematodes
      cd06960
      Location:1287
      NR_DBD_HNF4A; DNA-binding domain of heptocyte nuclear factor 4 (HNF4) is composed of two C4-type zinc fingers
    4. XM_047421737.1XP_047277693.1  hepatocyte nuclear factor 4-gamma isoform X1

      UniProtKB/Swiss-Prot
      Q14541, Q7Z2V9, Q9UH81, Q9UIS6
      UniProtKB/TrEMBL
      B6ZGT4
    5. XM_017013376.3XP_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:103324
      NR_LBD_HNF4_like; The ligand binding domain of heptocyte nuclear factor 4, which is explosively expanded in nematodes
      cd06960
      Location:1287
      NR_DBD_HNF4A; DNA-binding domain of heptocyte nuclear factor 4 (HNF4) is composed of two C4-type zinc fingers
    6. XM_047421738.1XP_047277694.1  hepatocyte nuclear factor 4-gamma isoform X1

      UniProtKB/Swiss-Prot
      Q14541, Q7Z2V9, Q9UH81, Q9UIS6
      UniProtKB/TrEMBL
      B6ZGT4
    7. XM_047421739.1XP_047277695.1  hepatocyte nuclear factor 4-gamma isoform X1

      UniProtKB/Swiss-Prot
      Q14541, Q7Z2V9, Q9UH81, Q9UIS6
      UniProtKB/TrEMBL
      B6ZGT4

    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_054360393.1XP_054216368.1  hepatocyte nuclear factor 4-gamma isoform X1

      UniProtKB/Swiss-Prot
      Q14541, Q7Z2V9, Q9UH81, Q9UIS6
      UniProtKB/TrEMBL
      B6ZGT4
    2. XM_054360394.1XP_054216369.1  hepatocyte nuclear factor 4-gamma isoform X1

      UniProtKB/Swiss-Prot
      Q14541, Q7Z2V9, Q9UH81, Q9UIS6
      UniProtKB/TrEMBL
      B6ZGT4
    3. XM_054360395.1XP_054216370.1  hepatocyte nuclear factor 4-gamma isoform X1

      UniProtKB/Swiss-Prot
      Q14541, Q7Z2V9, Q9UH81, Q9UIS6
      UniProtKB/TrEMBL
      B6ZGT4
    4. XM_054360396.1XP_054216371.1  hepatocyte nuclear factor 4-gamma isoform X1

      UniProtKB/Swiss-Prot
      Q14541, Q7Z2V9, Q9UH81, Q9UIS6
      UniProtKB/TrEMBL
      B6ZGT4