• Gene id: 2290

Gene Summary

• Gene Symbol: FOXG1   Gene   UCSC   Ensembl
• 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
• Gene name: forkhead box G1
• Alternate names: forkhead box protein G1, brain factor 1, brain factor 2, forkhead-like 1, forkhead-like 2, forkhead-like 3, forkhead-like 4, oncogene QIN,
• Gene location: 14q12 (28766786: 28770276)     Exons: 1     NC_000014.9
• Gene summary(Entrez): This locus encodes a member of the forked-head transcription factor family. The encoded protein, which functions as a repressor, may play a role in brain development. Mutations at this locus have been associated with Rett syndrome. [provided by RefSeq, Fe
• OMIM: 0

Protein Summary

• Protein general information: P55316  
  • 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
  • Length: 489  
  • Mass: 52352
  • Tissue specificity: Expression is restricted to the neurons of the developing telencephalon. {ECO
• Sequence:

  MLDMGDRKEVKMIPKSSFSINSLVPEAVQNDNHHASHGHHNSHHPQHHHHHHHHHHHPPPPAPQPPPPPQQQQPP
  PPPPPAPQPPQTRGAPAADDDKGPQQLLLPPPPPPPPAAALDGAKADGLGGKGEPGGGPGELAPVGPDEKEKGAG
  AGGEEKKGAGEGGKDGEGGKEGEKKNGKYEKPPFSYNALIMMAIRQSPEKRLTLNGIYEFIMKNFPYYRENKQGW
  QNSIRHNLSLNKCFVKVPRHYDDPGKGNYWMLDPSSDDVFIGGTTGKLRRRSTTSRAKLAFKRGARLTSTGLTFM
  DRAGSLYWPMSPFLSLHHPRASSTLSYNGTTSAYPSHPMPYSSVLTQNSLGNNHSFSTANGLSVDRLVNGEIPYA
  THHLTAAALAASVPCGLSVPCSGTYSLNPCSVNLLAGQTSYFFPHVPHPSMTSQSSTSMSARAASSSTSPQAPST
  LPCESLRPSLPSFTTGLSGGLSDYFTHQNQGSSSNPLIH

• Structural information:
  • Interpro: IPR001766  IPR018122  IPR030456  IPR036388  IPR036390  
  • Prosite: PS00657 PS00658 PS50039
  • CDD: cd00059
  • STRING: ENSP00000339004
• Other Databases: GeneCards:  FOXG1  Malacards:  FOXG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0007420	brain development	TAS	biological process
GO:0007420	brain development	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:2000177	regulation of neural precursor cell proliferation	IEA	biological process
GO:0051726	regulation of cell cycle	IEA	biological process
GO:0045787	positive regulation of cell cycle	IEA	biological process
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0022008	neurogenesis	IEA	biological process
GO:0016199	axon midline choice point recognition	IEA	biological process
GO:0009953	dorsal/ventral pattern formation	IEA	biological process
GO:0002052	positive regulation of neuroblast proliferation	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0048667	cell morphogenesis involved in neuron differentiation	IEA	biological process
GO:0048664	neuron fate determination	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IEA	biological process
GO:0030900	forebrain development	IEA	biological process
GO:0021987	cerebral cortex development	IEA	biological process
GO:0021954	central nervous system neuron development	IEA	biological process
GO:0021852	pyramidal neuron migration	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0007346	regulation of mitotic cell cycle	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04068	FoxO signaling pathway

Diseases

Associated diseases	References
Rett syndrome	KEGG:H00440
Rett syndrome	KEGG:H00440
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881