FOXG1

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FOXG1
Identifiers
Aliases FOXG1, 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, forkhead box G1
External IDs MGI: 1347464 HomoloGene: 3843 GeneCards: FOXG1
Gene location (Human)
Chromosome 14 (human)
Chr. Chromosome 14 (human)[1]
Chromosome 14 (human)
Genomic location for FOXG1
Genomic location for FOXG1
Band 14q12 Start 28,760,330 bp[1]
End 28,770,277 bp[1]
RNA expression pattern
PBB GE FOXG1B 206018 at fs.png

PBB GE FOXG1B 207658 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005249

NM_001160112
NM_008241

RefSeq (protein)

NP_005240

NP_001153584
NP_032267

Location (UCSC) Chr 14: 28.76 – 28.77 Mb Chr 14: 49.38 – 49.39 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Forkhead box protein G1 is a protein that in humans is encoded by the FOXG1 gene.[5][6][7]

Function[edit]

This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the development of the brain and telencephalon. It likely causes problems if it is mutated in children. Mutations cause high levels of mortality.[7]

Cajal Retzius Cell development is regulated by Foxg1

FOXG1 syndrome[edit]

FOXG1 syndrome is characterized by microcephaly and brain malformations. It affects most aspects of development and can cause seizures. FOXG1 syndrome is classified as an Autism Spectrum Disorder and was previously considered a variant of Rett Syndrome.[8][9]

Interactions[edit]

FOXG1 has been shown to interact with JARID1B.[10]

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000176165 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020950 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Murphy DB, Wiese S, Burfeind P, Schmundt D, Mattei MG, Schulz-Schaeffer W, Thies U (Nov 1994). "Human brain factor 1, a new member of the fork head gene family". Genomics. 21 (3): 551–7. PMID 7959731. doi:10.1006/geno.1994.1313. 
  6. ^ Bredenkamp N, Seoighe C, Illing N (Feb 2007). "Comparative evolutionary analysis of the FoxG1 transcription factor from diverse vertebrates identifies conserved recognition sites for microRNA regulation". Dev Genes Evol. 217 (3): 227–33. PMID 17260156. doi:10.1007/s00427-006-0128-x. 
  7. ^ a b "Entrez Gene: FOXG1B forkhead box G1B". 
  8. ^ http://ghr.nlm.nih.gov/condition/foxg1-syndrome
  9. ^ http://dnatesting.uchicago.edu/blog/foxg1-syndrome-more-congenital-variant-rett-syndrome
  10. ^ Tan K, Shaw AL, Madsen B, Jensen K, Taylor-Papadimitriou J, Freemont PS (Jun 2003). "Human PLU-1 Has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9". J. Biol. Chem. 278 (23): 20507–13. PMID 12657635. doi:10.1074/jbc.M301994200. 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.