Gene Gene information from NCBI Gene database.
Entrez ID 2308
Gene name Forkhead box O1
Gene symbol FOXO1
Synonyms (NCBI Gene)
FKH1FKHRFOXO1A
Chromosome 13
Chromosome location 13q14.11
Summary This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in myogenic growth and differentiation. T
miRNA miRNA information provided by mirtarbase database.
490
miRTarBase ID miRNA Experiments Reference
MIRT001088 hsa-miR-27a-3p qRT-PCRLuciferase reporter assayWestern blot 19574223
MIRT001087 hsa-miR-96-5p qRT-PCRLuciferase reporter assayWestern blot 19574223
MIRT001086 hsa-miR-182-5p qRT-PCRLuciferase reporter assayWestern blot 19574223
MIRT001086 hsa-miR-182-5p Luciferase reporter assay 19574223
MIRT001088 hsa-miR-27a-3p Luciferase reporter assay 19574223
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
FOXC1 Unknown 17993506;21837767
KLF5 Unknown 21487104
PARP1 Repression 19281796
TSC22D3 Repression 20018851
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
99
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
136533 3819 ENSG00000150907
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q12778
Protein name Forkhead box protein O1 (Forkhead box protein O1A) (Forkhead in rhabdomyosarcoma)
Protein function Transcription factor that is the main target of insulin signaling and regulates metabolic homeostasis in response to oxidative stress (PubMed:10358076, PubMed:12228231, PubMed:15220471, PubMed:15890677, PubMed:18356527, PubMed:19221179, PubMed:2
PDB 3CO6 , 3CO7 , 3COA , 4LG0 , 5DUI , 6LBI , 6QVW , 6QZR , 6QZS , 8A62 , 8A65
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00250 Forkhead 160 247 Forkhead domain Domain
PF16675 FOXO_KIX_bdg 423 504 KIX-binding domain of forkhead box O, CR2 Family
PF16676 FOXO-TAD 595 635 Transactivation domain of FOXO protein family Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in umbilical endothelial cells (at protein level) (PubMed:19483080). Abundantly expressed in skeletal muscle and ovary, with lower expression in the heart, placenta, lung, liver, pancreas, spleen, testis and small intestine (
Sequence
MAEAPQVVEIDPDFEPLPRPRSCTWPLPRPEFSQSNSATSSPAPSGSAAANPDAAAGLPS
ASAAAVSADFMSNLSLLEESEDFPQAPGSVAAAVAAAAAAAATGGLCGDFQGPEAGCLHP
APPQPPPPGPLSQHPPVPPAAAGPLAGQPRKSSSSRRNAWGNLSYADLITKAIESSAEKR
LTLSQIYEWMVKSVPYFKDKGDSNSSAGWKNSIRHNLSLHSKFIRVQNEGTGKSSWWMLN
PEGGKSG
KSPRRRAASMDNNSKFAKSRSRAAKKKASLQSGQEGAGDSPGSQFSKWPASPG
SHSNDDFDNWSTFRPRTSSNASTISGRLSPIMTEQDDLGEGDVHSMVYPPSAAKMASTLP
SLSEISNPENMENLLDNLNLLSSPTSLTVSTQSSPGTMMQQTPCYSFAPPNTSLNSPSPN
YQKYTYGQSSMSPLPQMPIQTLQDNKSSYGGMSQYNCAPGLLKELLTSDSPPHNDIMTPV
DPGVAQPNSRVLGQNVMMGPNSVM
STYGSQASHNKMMNPSSHTHPGHAQQTSAVNGRPLP
HTVSTMPHTSGMNRLTQVKTPVQVPLPHPMQMSALGGYSSVSSCNGYGRMGLLHQEKLPS
DLDGMFIERLDCDMESIIRNDLMDGDTLDFNFDNV
LPNQSFPHSVKTTTHSWVSG
Sequence length 655
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Malignant lymphoma, large B-cell, diffuse Pathogenic rs2501410449 RCV003318464
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acne Acne BEFREE 28499891, 30144329, 30240097
★☆☆☆☆
Found in Text Mining only
Acne Vulgaris Acne BEFREE 30144329, 30240097
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 27707884, 29622548
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 23380710
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia (AML-M2) Leukemia CTD_human_DG 17330099
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia, M1 Myeloid Leukemia CTD_human_DG 17330099
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 29683733
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 30478420
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 18444242
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 22653055
★☆☆☆☆
Found in Text Mining only