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

Gene ID: 3174, updated on 8-Dec-2018

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

Genomic context

See HNF4G in Genome Data Viewer
Location:
8q21.13
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (75407567..75566843)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (76452203..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 uncharacterized LOC105375906 Neighboring gene VISTA enhancer hs891 Neighboring gene uncharacterized LOC102724858 Neighboring gene RNA, U2 small nuclear 54, pseudogene

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Maturity onset diabetes of the young, organism-specific biosystem (from KEGG)
    Maturity onset diabetes of the young, organism-specific biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
  • Maturity onset diabetes of the young, conserved biosystem (from KEGG)
    Maturity onset diabetes of the young, conserved biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
  • Nuclear Receptor transcription pathway, organism-specific biosystem (from REACTOME)
    Nuclear Receptor transcription pathway, organism-specific biosystemA classic example of bifunctional transcription factors is the family of Nuclear Receptor (NR) proteins. These are DNA-binding transcription factors that bind certain hormones, vitamins, and other s...
  • Regulation of beta-cell development, organism-specific biosystem (from REACTOME)
    Regulation of beta-cell development, organism-specific biosystemThe normal development of the pancreas during gestation has been intensively investigated over the past decade especially in the mouse (Servitja and Ferrer 2004; Chakrabarti and Mirmira 2003). Studie...
  • Regulation of gene expression in beta cells, organism-specific biosystem (from REACTOME)
    Regulation of gene expression in beta cells, organism-specific biosystemTwo transcription factors, PDX1 and HNF1A, play key roles in maintaining the gene expression pattern characteristic of mature beta cells in the endocrine pancreas. Targets of these regulatory molecul...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
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)

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_001330561.1NP_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
    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_004133.4NP_004124.4  hepatocyte nuclear factor 4-gamma isoform 1

    See identical proteins and their annotated locations for NP_004124.4

    Status: VALIDATED

    Source sequence(s)
    AC040917, BX571750
    Consensus CDS
    CCDS6220.2
    UniProtKB/Swiss-Prot
    Q14541
    UniProtKB/TrEMBL
    F1D8Q4
    Related
    ENSP00000379701.2, ENST00000396423.2
    Conserved Domains (2) summary
    cd06931
    Location:140361
    NR_LBD_HNF4_like; The ligand binding domain of heptocyte nuclear factor 4, which is explosively expanded in nematodes
    cd06960
    Location:49124
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    75407567..75566843
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    Q14541
    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_017013374.1XP_016868863.1  hepatocyte nuclear factor 4-gamma isoform X1

    UniProtKB/Swiss-Prot
    Q14541
    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_017013375.1XP_016868864.1  hepatocyte nuclear factor 4-gamma isoform X1

    UniProtKB/Swiss-Prot
    Q14541
    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_017013376.2XP_016868865.1  hepatocyte nuclear factor 4-gamma isoform X1

    UniProtKB/Swiss-Prot
    Q14541
    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
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