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

Gene ID: 3174, updated on 12-Aug-2022

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, Apr 2022]
Expression
Biased expression in small intestine (RPKM 55.0), duodenum (RPKM 46.4) and 5 other tissues See more
Orthologs
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Genomic context

See HNF4G in Genome Data Viewer
Location:
8q21.13
Exon count:
17
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (75407649..75566834)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (75837130..75996323)
105.20220307 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 pyruvate kinase M1/2 pseudogene 4 Neighboring gene small nucleolar RNA U13 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

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in anatomical structure development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
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)

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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_001330561.2NP_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, Q9UIS6
    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
    CCDS6220.2
    UniProtKB/TrEMBL
    A0A6E1WB48
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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, Q9UIS6
    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, Q9UIS6
    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, Q9UIS6
    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
    Q9UIS6
  5. XM_017013376.3XP_016868865.1  hepatocyte nuclear factor 4-gamma isoform X1

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

    UniProtKB/Swiss-Prot
    Q9UIS6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

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