Gene Gene information from NCBI Gene database.
Entrez ID 27023
Gene name Forkhead box B1
Gene symbol FOXB1
Synonyms (NCBI Gene)
FKH5HFKH-5
Chromosome 15
Chromosome location 15q22.2
miRNA miRNA information provided by mirtarbase database.
158
miRTarBase ID miRNA Experiments Reference
MIRT527515 hsa-miR-1248 HITS-CLIP 19536157
MIRT483055 hsa-miR-4446-5p HITS-CLIP 19536157
MIRT483055 hsa-miR-4446-5p HITS-CLIP 19536157
MIRT483056 hsa-miR-95-5p HITS-CLIP 23824327
MIRT527516 hsa-miR-1237-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49
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:0001655 Process Urogenital system development IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619961 3799 ENSG00000171956
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99853
Protein name Forkhead box protein B1 (Transcription factor FKH-5)
Protein function Transcription factor expressed by neural progenitor cells in specific regions of the embryonic neuroepithelium. Essential for the mammillary nuclei maintenance. Negatively regulates the proliferation of oligodendrocyte progenitors and promotes o
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00250 Forkhead 12 98 Forkhead domain Domain
Sequence
MPRPGRNTYSDQKPPYSYISLTAMAIQSSPEKMLPLSEIYKFIMDRFPYYRENTQRWQNS
LRHNLSFNDCFIKIPRRPDQPGKGSFWALHPSCGDMFE
NGSFLRRRKRFKVLKSDHLAPS
KPADAAQYLQQQAKLRLSALAASGTHLPQMPAAAYNLGGVAQPSGFKHPFAIENIIAREY
KMPGGLAFSAMQPVPAAYPLPNQLTTMGSSLGTGWPHVYGSAGMIDSATPISMASGDYSA
YGVPLKPLCHAAGQTLPAIPVPIKPTPAAVPALPALPAPIPTLLSNSPPSLSPTSSQTAT
SQSSPATPSETLTSPASALHSVAVH
Sequence length 325
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
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
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS 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
Asthma Asthma Pubtator 26635092 Associate
★☆☆☆☆
Found in Text Mining only
Childhood asthma Asthma BEFREE 26635092
★☆☆☆☆
Found in Text Mining only