Gene Gene information from NCBI Gene database.
Entrez ID 4303
Gene name Forkhead box O4
Gene symbol FOXO4
Synonyms (NCBI Gene)
AFXAFX1MLLT7
Chromosome X
Chromosome location Xq13.1
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
miRNA miRNA information provided by mirtarbase database.
77
miRTarBase ID miRNA Experiments Reference
MIRT006698 hsa-miR-499a-5p Luciferase reporter assayqRT-PCRWestern blot 21934092
MIRT018590 hsa-miR-335-5p Microarray 18185580
MIRT039705 hsa-miR-615-3p CLASH 23622248
MIRT437900 hsa-miR-421 Luciferase reporter assayWestern blot 23707940
MIRT437900 hsa-miR-421 Luciferase reporter assayWestern blot 23707940
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
TSC22D3 Repression 20018851
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
55
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IDA 11689711
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300033 7139 ENSG00000184481
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P98177
Protein name Forkhead box protein O4 (Fork head domain transcription factor AFX1)
Protein function Transcription factor involved in the regulation of the insulin signaling pathway. Binds to insulin-response elements (IREs) and can activate transcription of IGFBP1. Down-regulates expression of HIF1A and suppresses hypoxia-induced transcription
PDB 1E17 , 3L2C
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00250 Forkhead 102 188 Forkhead domain Domain
PF16676 FOXO-TAD 463 504 Transactivation domain of FOXO protein family Domain
Tissue specificity TISSUE SPECIFICITY: Heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Isoform zeta is most abundant in the liver, kidney, and pancreas.
Sequence
MDPGNENSATEAAAIIDLDPDFEPQSRPRSCTWPLPRPEIANQPSEPPEVEPDLGEKVHT
EGRSEPILLPSRLPEPAGGPQPGILGAVTGPRKGGSRRNAWGNQSYAELISQAIESAPEK
RLTLAQIYEWMVRTVPYFKDKGDSNSSAGWKNSIRHNLSLHSKFIKVHNEATGKSSWWML
NPEGGKSG
KAPRRRAASMDSSSKLLRGRSKAPKKKPSVLPAPPEGATPTSPVGHFAKWSG
SPCSRNREEADMWTTFRPRSSSNASSVSTRLSPLRPESEVLAEEIPASVSSYAGGVPPTL
NEGLELLDGLNLTSSHSLLSRSGLSGFSLQHPGVTGPLHTYSSSLFSPAEGPLSAGEGCF
SSSQALEALLTSDTPPPPADVLMTQVDPILSQAPTLLLLGGLPSSSKLATGVGLCPKPLE
APGPSSLVPTLSMIAPPPVMASAPIPKALGTPVLTPPTEAASQDRMPQDLDLDMYMENLE
CDMDNIISDLMDEGEGLDFNFEPD
P
Sequence length 505
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ras signaling pathway
FoxO signaling pathway
Shigellosis
  AKT phosphorylates targets in the nucleus
Constitutive Signaling by AKT1 E17K in Cancer
Ub-specific processing proteases
Regulation of localization of FOXO transcription factors
FOXO-mediated transcription of cell death genes
FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
FOXO-mediated transcription of cell cycle genes
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of the face Uncertain significance rs2521672337 RCV003311595
Clinodactyly Uncertain significance rs2521672337 RCV003311595
Intellectual disability Uncertain significance rs2147734991 RCV001816028
Macrocephaly Uncertain significance rs2521672337 RCV003311595
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Atherosclerosis Associate 32329448
Carcinoma Hepatocellular Associate 25053419
Carcinoma Non Small Cell Lung Associate 24935588
Colorectal Neoplasms Associate 20348951, 23029137
Desmoplastic Small Round Cell Tumor Associate 25010205
Diabetes Mellitus Associate 36978091
Diabetic Nephropathies Inhibit 36978091
Epilepsy Inhibit 28963932
Glycosuria Renal Associate 36978091
Hepatitis B Associate 32228643, 35695580