Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2290
Gene name Gene Name - the full gene name approved by the HGNC.
Forkhead box G1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FOXG1
Synonyms (NCBI Gene) Gene synonyms aliases
BF1, BF2, FHKL3, FKH2, FKHL1, FKHL2, FKHL3, FKHL4, FOXG1A, FOXG1B, FOXG1C, HBF-1, HBF-2, HBF-3, HBF-G2, HBF2, HFK1, HFK2, HFK3, KHL2, QIN
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q12
Summary Summary of gene provided in NCBI Entrez Gene.
This locus encodes a member of the fork-head transcription factor family. The encoded protein, which functions as a transcriptional repressor, is highly expressed in neural tissues during brain development. Mutations at this locus have been associated wit
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs112803404 C>G,T Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign Coding sequence variant, synonymous variant
rs121913678 G>A,T Pathogenic Stop gained, coding sequence variant, missense variant
rs138747073 C>A,G,T Pathogenic, likely-benign Stop gained, coding sequence variant, synonymous variant
rs141088742 C>G,T Benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs144434028 C>T Benign, conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016200 hsa-miR-590-3p Sequencing 20371350
MIRT029405 hsa-miR-26b-5p Microarray 19088304
MIRT658115 hsa-miR-586 HITS-CLIP 23824327
MIRT658114 hsa-miR-654-3p HITS-CLIP 23824327
MIRT069734 hsa-miR-30d-5p PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0002052 Process Positive regulation of neuroblast proliferation IEA
GO:0003677 Function DNA binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
164874 3811 ENSG00000176165
Protein
UniProt ID P55316
Protein name Forkhead box protein G1 (Brain factor 1) (BF-1) (BF1) (Brain factor 2) (BF-2) (BF2) (hBF-2) (Forkhead box protein G1A) (Forkhead box protein G1B) (Forkhead box protein G1C) (Forkhead-related protein FKHL1) (HFK1) (Forkhead-related protein FKHL2) (HFK2) (F
Protein function Transcription repression factor which plays an important role in the establishment of the regional subdivision of the developing brain and in the development of the telencephalon.
PDB 7CBY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00250 Forkhead 180 266 Forkhead domain Domain
Tissue specificity TISSUE SPECIFICITY: Expression is restricted to the neurons of the developing telencephalon. {ECO:0000269|PubMed:7959731}.
Sequence
MLDMGDRKEVKMIPKSSFSINSLVPEAVQNDNHHASHGHHNSHHPQHHHHHHHHHHHPPP
PAPQPPPPPQQQQPPPPPPPAPQPPQTRGAPAADDDKGPQQLLLPPPPPPPPAAALDGAK
ADGLGGKGEPGGGPGELAPVGPDEKEKGAGAGGEEKKGAGEGGKDGEGGKEGEKKNGKYE
KPPFSYNALIMMAIRQSPEKRLTLNGIYEFIMKNFPYYRENKQGWQNSIRHNLSLNKCFV
KVPRHYDDPGKGNYWMLDPSSDDVFI
GGTTGKLRRRSTTSRAKLAFKRGARLTSTGLTFM
DRAGSLYWPMSPFLSLHHPRASSTLSYNGTTSAYPSHPMPYSSVLTQNSLGNNHSFSTAN
GLSVDRLVNGEIPYATHHLTAAALAASVPCGLSVPCSGTYSLNPCSVNLLAGQTSYFFPH
VPHPSMTSQSSTSMSARAASSSTSPQAPSTLPCESLRPSLPSFTTGLSGGLSDYFTHQNQ
GSSSNPLIH
Sequence length 489
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  FoxO signaling pathway   FOXO-mediated transcription of cell cycle genes
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Rett Syndrome Rett syndrome, congenital variant, rett syndrome rs1555321337, rs587783643, rs1555321405, rs786205007, rs796052469, rs587783629, rs1594383704, rs1555321206, rs727503935, rs786205486, rs786205008, rs869312700, rs587783631, rs1555321301, rs1555321380
View all (58 more)
N/A
Mental retardation intellectual disability rs587783640 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Takayasu Arteritis Takayasu arteritis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Associate 28628667
Adenocarcinoma of Lung Associate 24369052
Agenesis of Corpus Callosum Associate 26364767, 28851325
Aicardi Syndrome Associate 24836831
Astrocytoma Associate 18670637
Autism Spectrum Disorder Associate 26186191
Autistic Disorder Associate 24836831
Blood Platelet Disorders Associate 23632790
Brain Diseases Associate 22739344, 26795593, 29852413, 34964776
Brain Neoplasms Associate 29316219