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    FOXO4 forkhead box O4 [ Homo sapiens (human) ]

    Gene ID: 4303, updated on 21-Dec-2019

    Summary

    Official Symbol
    FOXO4provided by HGNC
    Official Full Name
    forkhead box O4provided by HGNC
    Primary source
    HGNC:HGNC:7139
    See related
    Ensembl:ENSG00000184481 MIM:300033
    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
    AFX; AFX1; MLLT7
    Summary
    This gene encodes a member of the O class of winged helix/forkhead transcription factor family. Proteins encoded by this class are regulated by factors involved in growth and differentiation indicating they play a role in these processes. A translocation involving this gene on chromosome X and the homolog of the Drosophila trithorax gene, encoding a DNA binding protein, located on chromosome 11 is associated with leukemia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
    Expression
    Broad expression in placenta (RPKM 74.9), testis (RPKM 15.0) and 21 other tissues See more
    Orthologs

    Genomic context

    See FOXO4 in Genome Data Viewer
    Location:
    Xq13.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20191205 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (71095851..71103534)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (70315999..70323384)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene suppressor of cytokine signaling 5 pseudogene 4 Neighboring gene sorting nexin 12 Neighboring gene chromosome X open reading frame 65 Neighboring gene interleukin 2 receptor subunit gamma Neighboring gene mediator complex subunit 12

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC120490

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA-binding transcription activator activity, RNA polymerase II-specific IC
    Inferred by Curator
    more info
     
    DNA-binding transcription factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    DNA-binding transcription factor activity, RNA polymerase II-specific ISM
    Inferred from Sequence Model
    more info
    PubMed 
    DNA-binding transcription factor activity, RNA polymerase II-specific NAS
    Non-traceable Author Statement
    more info
    PubMed 
    beta-catenin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    promoter-specific chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sequence-specific DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    cell cycle arrest IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glucose homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    insulin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    insulin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitotic G2 DNA damage checkpoint IEA
    Inferred from Electronic Annotation
    more info
     
    muscle organ development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of G0 to G1 transition IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of angiogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of smooth muscle cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of cell cycle arrest IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of smooth muscle cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein deubiquitination TAS
    Traceable Author Statement
    more info
     
    regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to nutrient levels IEA
    Inferred from Electronic Annotation
    more info
     
    response to water-immersion restraint stress IEA
    Inferred from Electronic Annotation
    more info
     
    stem cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
    PubMed 
    nuclear chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    forkhead box protein O4
    Names
    fork head domain transcription factor AFX1
    myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7

    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.

    Genomic

    1. NG_016418.1 RefSeqGene

      Range
      4703..12384
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001170931.2NP_001164402.1  forkhead box protein O4 isoform 2

      See identical proteins and their annotated locations for NP_001164402.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. This results in a shorter protein (isoform 2 also known as isoform zeta) compared to isoform 1.
      Source sequence(s)
      AF384029, AL590764, AW292413
      Consensus CDS
      CCDS55440.1
      UniProtKB/Swiss-Prot
      P98177
      Related
      ENSP00000342209.3, ENST00000341558.3
      Conserved Domains (3) summary
      cd00059
      Location:58126
      FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as ...
      pfam16675
      Location:303340
      FOXO_KIX_bdg; KIX-binding domain of forkhead box O, CR2
      pfam16676
      Location:410448
      FOXO-TAD; Transactivation domain of FOXO protein family
    2. NM_005938.4NP_005929.2  forkhead box protein O4 isoform 1

      See identical proteins and their annotated locations for NP_005929.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1 also known as AFX alpha).
      Source sequence(s)
      AL590764, AW292413, BC106761
      Consensus CDS
      CCDS43969.1
      UniProtKB/Swiss-Prot
      P98177
      Related
      ENSP00000363377.3, ENST00000374259.8
      Conserved Domains (4) summary
      pfam05887
      Location:483
      Trypan_PARP; Procyclic acidic repetitive protein (PARP)
      cd00059
      Location:101181
      FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as ...
      pfam16675
      Location:358395
      FOXO_KIX_bdg; KIX-binding domain of forkhead box O, CR2
      pfam16676
      Location:465503
      FOXO-TAD; Transactivation domain of FOXO protein family

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

      Range
      71095851..71103534
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530957.3XP_011529259.1  forkhead box protein O4 isoform X1

      Conserved Domains (2) summary
      pfam16675
      Location:180217
      FOXO_KIX_bdg; KIX-binding domain of forkhead box O, CR2
      pfam16676
      Location:287325
      FOXO-TAD; Transactivation domain of FOXO protein family
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