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FOXO4 forkhead box O4 [ Homo sapiens (human) ]

Gene ID: 4303, updated on 13-Mar-2020

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
109.20200228 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 IDA
Inferred from Direct Assay
more info
PubMed 
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 
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.

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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