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    HNF4A hepatocyte nuclear factor 4 alpha [ Homo sapiens (human) ]

    Gene ID: 3172, updated on 27-Nov-2024

    Summary

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    Official Symbol
    HNF4Aprovided by HGNC
    Official Full Name
    hepatocyte nuclear factor 4 alphaprovided by HGNC
    Primary source
    HGNC:HGNC:5024
    See related
    Ensembl:ENSG00000101076 MIM:600281; AllianceGenome:HGNC:5024
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TCF; HNF4; MODY; FRTS4; MODY1; NR2A1; TCF14; HNF4a7; HNF4a8; HNF4a9; NR2A21; TCF-14; HNF4alpha
    Summary
    The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]
    Expression
    Biased expression in duodenum (RPKM 37.7), colon (RPKM 32.8) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HNF4A in Genome Data Viewer
    Location:
    20q13.12
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (44355699..44434596)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (46090439..46170188)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (42984339..43063236)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:42938689-42939418 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:42939419-42940148 Neighboring gene fat storage inducing transmembrane protein 2 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:42952746-42953298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42962599-42963110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42964365-42965354 Neighboring gene R3H domain containing like Neighboring gene R3HDML antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42981671-42982170 Neighboring gene HNF4A antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17923 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:43017550-43018051 Neighboring gene microRNA 3646 Neighboring gene long intergenic non-protein coding RNA 1430 Neighboring gene long intergenic non-protein coding RNA 1620

    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
    • 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. Expression of HNF4γ is downregulated in patients with active ulcerative colitis (UC) compared to UC patients in remission and healthy controls. Bueno-Hernández N, et al. Inflamm Bowel Dis, 2011 Aug. PMID 21618351
    2. Detection and characterization of two novel mutations in the HNF4A gene in maturity-onset diabetes of the young type 1 in two Japanese families. Fujiwara M, et al. Horm Res Paediatr, 2013. PMID 23652628
    3. Genetic variations of NR2A1 in Asian populations: implications in pharmacogenetics studies. Chew SC, et al. Drug Metab Pharmacokinet, 2013. PMID 23268925
    4. HNF4α as a marker for invasive mucinous adenocarcinoma of the lung. Sugano M, et al. Am J Surg Pathol, 2013 Feb. PMID 23108025
    5. Association between genetic variants in the HNF4A gene and childhood-onset Crohn's disease. Marcil V, et al. Genes Immun, 2012 Oct. PMID 22914433, Free PMC Article

    See all (589) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Abrogating K458 acetylation enhances hepatocyte nuclear factor 4alpha (HNF4alpha)-induced differentiation therapy for hepatocellular carcinoma.
      Title: Abrogating K458 acetylation enhances hepatocyte nuclear factor 4α (HNF4α)-induced differentiation therapy for hepatocellular carcinoma.
    2. Role of Hepatocyte Nuclear Factor 4 Alpha in Liver Cancer.
      Title: Role of Hepatocyte Nuclear Factor 4 Alpha in Liver Cancer.
    3. CircVPS8 promotes the malignant phenotype and inhibits ferroptosis of glioma stem cells by acting as a scaffold for MKRN1, SOX15 and HNF4A.
      Title: CircVPS8 promotes the malignant phenotype and inhibits ferroptosis of glioma stem cells by acting as a scaffold for MKRN1, SOX15 and HNF4A.
    4. Downregulation of HNF4A enables transcriptomic reprogramming during the hepatic acute-phase response.
      Title: Downregulation of HNF4A enables transcriptomic reprogramming during the hepatic acute-phase response.
    5. Transposable elements-mediated recruitment of KDM1A epigenetically silences HNF4A expression to promote hepatocellular carcinoma.
      Title: Transposable elements-mediated recruitment of KDM1A epigenetically silences HNF4A expression to promote hepatocellular carcinoma.
    6. Molecular mechanism of HNF-1A-mediated HNF4A gene regulation and promoter-driven HNF4A-MODY diabetes.
      Title: Molecular mechanism of HNF-1A-mediated HNF4A gene regulation and promoter-driven HNF4A-MODY diabetes.
    7. Kruppel-like factor 10 protects against metabolic dysfunction-associated steatohepatitis by regulating HNF4alpha-mediated metabolic pathways.
      Title: Krüppel-like factor 10 protects against metabolic dysfunction-associated steatohepatitis by regulating HNF4α-mediated metabolic pathways.
    8. Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects.
      Title: Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects.
    9. TRIB3-TRIM8 complex drives NAFLD progression by regulating HNF4alpha stability.
      Title: TRIB3-TRIM8 complex drives NAFLD progression by regulating HNF4α stability.
    10. Association between HNF4A rs1800961 polymorphisms and gallstones in a Taiwanese population.
      Title: Association between HNF4A rs1800961 polymorphisms and gallstones in a Taiwanese population.
    Submit: New GeneRIF Correction See all GeneRIFs (456)

    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
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.
    EBI GWAS Catalog
    Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci.
    EBI GWAS Catalog
    Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.
    EBI GWAS Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
    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

    Clone Names

    • FLJ39654

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    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-specific DNA-binding transcription factor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables fatty acid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables nuclear receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nuclear receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables signaling receptor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in blood coagulation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cholesterol homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in glucose homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in intracellular receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lipid homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of cell growth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in phospholipid homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of circadian rhythm IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of gastrulation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of growth hormone receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of insulin secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of lipid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of ornithine metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to glucose ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in rhythmic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sex differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction involved in regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in triglyceride homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_positive_effect xenobiotic metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    hepatocyte nuclear factor 4-alpha
    Names
    HNF4A wild type
    HNF4alpha10/11/12
    hepatic nuclear factor 4 alpha
    nuclear receptor subfamily 2 group A member 1
    transcription factor 14
    transcription factor HNF-4

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_009818.1 RefSeqGene

      Range
      5001..82045
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_483

    mRNA and Protein(s)

    1. NM_000457.6 → NP_000448.3  hepatocyte nuclear factor 4-alpha isoform 2

      See identical proteins and their annotated locations for NP_000448.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the longest isoform (2, also known as HNF4alpha2).
      Source sequence(s)
      AL132772
      Consensus CDS
      CCDS13330.1
      UniProtKB/Swiss-Prot
      A5JW41, B2RPP8, O00659, O00723, P41235, Q14540, Q5QPB8, Q6B4V5, Q6B4V6, Q6B4V7, Q92653, Q92654, Q92655, Q99864, Q9NQH0
      UniProtKB/TrEMBL
      B6ZGT3, F1D8T1
      Related
      ENSP00000312987.3, ENST00000316099.10
      Conserved Domains (2) summary
      cd06931
      Location:151 → 373
      NR_LBD_HNF4_like; The ligand binding domain of heptocyte nuclear factor 4, which is explosively expanded in nematodes
      cd06960
      Location:60 → 135
      NR_DBD_HNF4A; DNA-binding domain of heptocyte nuclear factor 4 (HNF4) is composed of two C4-type zinc fingers

    2. NM_001030003.3 → NP_001025174.1  hepatocyte nuclear factor 4-alpha isoform 4

      See identical proteins and their annotated locations for NP_001025174.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' terminal exon (resulting in translation initiation from an alternate upstream start codon) and uses an alternate in-frame donor splice site in the 3' coding region compared to variant 2. The resulting shorter isoform (4, also known as HNF4alpha7) has a distinct N-terminus and lacks a 10 aa protein segment in the C-terminal region compared to isoform 2.
      Source sequence(s)
      AL117382, AL132772, AW134564, AY680696
      Consensus CDS
      CCDS46604.1
      UniProtKB/TrEMBL
      B6ZGT3
      Related
      ENSP00000396216.1, ENST00000457232.5
      Conserved Domains (2) summary
      cd06931
      Location:129 → 351
      NR_LBD_HNF4_like; The ligand binding domain of heptocyte nuclear factor 4, which is explosively expanded in nematodes
      cd06960
      Location:38 → 113
      NR_DBD_HNF4A; DNA-binding domain of heptocyte nuclear factor 4 (HNF4) is composed of two C4-type zinc fingers

    3. NM_001030004.3 → NP_001025175.1  hepatocyte nuclear factor 4-alpha isoform 6

      See identical proteins and their annotated locations for NP_001025175.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains an alternate 5' terminal exon (resulting in translation initiation from an alternate upstream start codon) and differs at the 3' end that causes a frame-shift compared to variant 2. The resulting shorter isoform (6, also known as HNF4alpha9) has distinct N- and C-termini compared to isoform 2.
      Source sequence(s)
      AL117382, AL132772, AY680698
      Consensus CDS
      CCDS68131.1
      UniProtKB/TrEMBL
      A0A087WXV4
      Related
      ENSP00000476609.1, ENST00000609795.5
      Conserved Domains (2) summary
      cd06931
      Location:129 → 351
      NR_LBD_HNF4_like; The ligand binding domain of heptocyte nuclear factor 4, which is explosively expanded in nematodes
      cd06960
      Location:38 → 113
      NR_DBD_HNF4A; DNA-binding domain of heptocyte nuclear factor 4 (HNF4) is composed of two C4-type zinc fingers

    4. NM_001258355.2 → NP_001245284.1  hepatocyte nuclear factor 4-alpha isoform 7

      See identical proteins and their annotated locations for NP_001245284.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) contains an additional coding exon in the 5' region that results in translation initiation from an alternate downstream start codon compared to variant 2. The resulting shorter isoform (7) has a distinct N-terminus compared to isoform 2.
      Source sequence(s)
      AL132772, AW134564, BP274413, HQ692869, Z49825
      UniProtKB/TrEMBL
      B6ZGT3
      Conserved Domains (2) summary
      cd06931
      Location:144 → 366
      NR_LBD_HNF4_like; The ligand binding domain of heptocyte nuclear factor 4, which is explosively expanded in nematodes
      cd06960
      Location:53 → 128
      NR_DBD_HNF4A; DNA-binding domain of heptocyte nuclear factor 4 (HNF4) is composed of two C4-type zinc fingers

    5. NM_001287182.2 → NP_001274111.1  hepatocyte nuclear factor 4-alpha isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs at the 5' end (resulting in translation initiation from an alternate upstream start codon) and uses an alternate in-frame donor splice site in the 3' coding region compared to variant 2. The resulting shorter isoform (8, also known as HNF4alpha10) has a distinct N-terminus and lacks a 10 aa protein segment in the C-terminal region compared to isoform 2.
      Source sequence(s)
      AL117382, AL132772, AW134564, AY680696, FJ608822
      UniProtKB/TrEMBL
      B6ZGT3
      Conserved Domains (2) summary
      cd06931
      Location:126 → 348
      NR_LBD_HNF4_like; The ligand binding domain of heptocyte nuclear factor 4, which is explosively expanded in nematodes
      cd06960
      Location:35 → 110
      NR_DBD_HNF4A; DNA-binding domain of heptocyte nuclear factor 4 (HNF4) is composed of two C4-type zinc fingers

    6. NM_001287183.2 → NP_001274112.1  hepatocyte nuclear factor 4-alpha isoform 9

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs at the 5' end, which results in translation initiation from an alternate upstream start codon compared to variant 2. The resulting shorter isoform (9, also known as HNF4alpha11) has a distinct N-terminus compared to isoform 2.
      Source sequence(s)
      AL117382, AL132772
      UniProtKB/TrEMBL
      B6ZGT3
      Conserved Domains (2) summary
      cd06931
      Location:126 → 348
      NR_LBD_HNF4_like; The ligand binding domain of heptocyte nuclear factor 4, which is explosively expanded in nematodes
      cd06960
      Location:35 → 110
      NR_DBD_HNF4A; DNA-binding domain of heptocyte nuclear factor 4 (HNF4) is composed of two C4-type zinc fingers

    7. NM_001287184.2 → NP_001274113.1  hepatocyte nuclear factor 4-alpha isoform 10

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) differs at the 5' end (resulting in translation initiation from an alternate upstream start codon) and at the 3' end (that causes a frame-shift) compared to variant 2. The resulting shorter isoform (10, also known as HNF4alpha12) has distinct N- and C-termini compared to isoform 2.
      Source sequence(s)
      AL117382, AL132772, AY680698, BC137539, FJ608822
      UniProtKB/TrEMBL
      A0A087WXV4
      Conserved Domains (2) summary
      cd06931
      Location:126 → 348
      NR_LBD_HNF4_like; The ligand binding domain of heptocyte nuclear factor 4, which is explosively expanded in nematodes
      cd06960
      Location:35 → 110
      NR_DBD_HNF4A; DNA-binding domain of heptocyte nuclear factor 4 (HNF4) is composed of two C4-type zinc fingers

    8. NM_175914.5 → NP_787110.2  hepatocyte nuclear factor 4-alpha isoform 5

      See identical proteins and their annotated locations for NP_787110.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate 5' terminal exon, which results in translation initiation from an alternate upstream start codon compared to variant 2. The resulting shorter isoform (5, also known as HNF4alpha8) has a distinct N-terminus compared to isoform 2.
      Source sequence(s)
      AL117382, AL132772
      Consensus CDS
      CCDS42876.1
      UniProtKB/TrEMBL
      B6ZGT3, F1D8T0
      Related
      ENSP00000315180.4, ENST00000316673.9
      Conserved Domains (2) summary
      cd06931
      Location:129 → 351
      NR_LBD_HNF4_like; The ligand binding domain of heptocyte nuclear factor 4, which is explosively expanded in nematodes
      cd06960
      Location:38 → 113
      NR_DBD_HNF4A; DNA-binding domain of heptocyte nuclear factor 4 (HNF4) is composed of two C4-type zinc fingers

    9. NM_178849.3 → NP_849180.1  hepatocyte nuclear factor 4-alpha isoform 1

      See identical proteins and their annotated locations for NP_849180.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses an alternate in-frame donor splice site in the 3' coding region compared to variant 2. The resulting shorter isoform (1, also known as HNF4alpha1) lacks a 10 aa protein segment compared to isoform 2.
      Source sequence(s)
      AL132772, AW134564, BP274413, HQ692860
      Consensus CDS
      CCDS46605.1
      UniProtKB/TrEMBL
      B6ZGT3, F1D8S2
      Related
      ENSP00000412111.1, ENST00000415691.2
      Conserved Domains (2) summary
      cd06931
      Location:151 → 373
      NR_LBD_HNF4_like; The ligand binding domain of heptocyte nuclear factor 4, which is explosively expanded in nematodes
      cd06960
      Location:60 → 135
      NR_DBD_HNF4A; DNA-binding domain of heptocyte nuclear factor 4 (HNF4) is composed of two C4-type zinc fingers

    10. NM_178850.3 → NP_849181.1  hepatocyte nuclear factor 4-alpha isoform 3

      See identical proteins and their annotated locations for NP_849181.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has a different 3' end that causes a frame-shift compared to variant 2. The resulting shorter isoform (3, also known as HNF4alpha3) has a distinct C-terminus compared to isoform 2.
      Source sequence(s)
      AL132772, BC137539, BP274413
      Consensus CDS
      CCDS13331.1
      UniProtKB/TrEMBL
      A0A087WXV4
      Related
      ENSP00000410911.2, ENST00000443598.6
      Conserved Domains (2) summary
      cd06931
      Location:151 → 373
      NR_LBD_HNF4_like; The ligand binding domain of heptocyte nuclear factor 4, which is explosively expanded in nematodes
      cd06960
      Location:60 → 135
      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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      44355699..44434596
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440138.1 → XP_047296094.1  hepatocyte nuclear factor 4-alpha isoform X2

      UniProtKB/TrEMBL
      F1D8S2

    2. XM_047440135.1 → XP_047296091.1  hepatocyte nuclear factor 4-alpha isoform X1

      UniProtKB/Swiss-Prot
      A5JW41, B2RPP8, O00659, O00723, P41235, Q14540, Q5QPB8, Q6B4V5, Q6B4V6, Q6B4V7, Q92653, Q92654, Q92655, Q99864, Q9NQH0
      UniProtKB/TrEMBL
      F1D8T1

    3. XM_047440136.1 → XP_047296092.1  hepatocyte nuclear factor 4-alpha isoform X1

      UniProtKB/Swiss-Prot
      A5JW41, B2RPP8, O00659, O00723, P41235, Q14540, Q5QPB8, Q6B4V5, Q6B4V6, Q6B4V7, Q92653, Q92654, Q92655, Q99864, Q9NQH0
      UniProtKB/TrEMBL
      F1D8T1

    4. XM_047440137.1 → XP_047296093.1  hepatocyte nuclear factor 4-alpha isoform X1

      UniProtKB/Swiss-Prot
      A5JW41, B2RPP8, O00659, O00723, P41235, Q14540, Q5QPB8, Q6B4V5, Q6B4V6, Q6B4V7, Q92653, Q92654, Q92655, Q99864, Q9NQH0
      UniProtKB/TrEMBL
      F1D8T1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      46090439..46170188
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323403.1 → XP_054179378.1  hepatocyte nuclear factor 4-alpha isoform X1

      UniProtKB/Swiss-Prot
      A5JW41, B2RPP8, O00659, O00723, P41235, Q14540, Q5QPB8, Q6B4V5, Q6B4V6, Q6B4V7, Q92653, Q92654, Q92655, Q99864, Q9NQH0
      UniProtKB/TrEMBL
      F1D8T1

    2. XM_054323402.1 → XP_054179377.1  hepatocyte nuclear factor 4-alpha isoform X1

      UniProtKB/Swiss-Prot
      A5JW41, B2RPP8, O00659, O00723, P41235, Q14540, Q5QPB8, Q6B4V5, Q6B4V6, Q6B4V7, Q92653, Q92654, Q92655, Q99864, Q9NQH0
      UniProtKB/TrEMBL
      F1D8T1

    3. XM_054323405.1 → XP_054179380.1  hepatocyte nuclear factor 4-alpha isoform X2

      UniProtKB/TrEMBL
      F1D8S2

    4. XM_054323404.1 → XP_054179379.1  hepatocyte nuclear factor 4-alpha isoform X1

      UniProtKB/Swiss-Prot
      A5JW41, B2RPP8, O00659, O00723, P41235, Q14540, Q5QPB8, Q6B4V5, Q6B4V6, Q6B4V7, Q92653, Q92654, Q92655, Q99864, Q9NQH0
      UniProtKB/TrEMBL
      F1D8T1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P41235.3 GenPept UniProtKB/Swiss-Prot:P41235

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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