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FOXG1

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
FOXG1
Identifiers
AliasesFOXG1, 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 IDsOMIM:164874;MGI:1347464;HomoloGene:3843;GeneCards:FOXG1;OMA:FOXG1 - orthologs
Gene location (Human)
Chromosome 14 (human)
Chr.Chromosome 14 (human)[1]
Chromosome 14 (human)
Genomic location for FOXG1
Genomic location for FOXG1
Band14q12Start28,766,787bp[1]
End28,770,277bp[1]
Gene location (Mouse)
Chromosome 12 (mouse)
Chr.Chromosome 12 (mouse)[2]
Chromosome 12 (mouse)
Genomic location for FOXG1
Genomic location for FOXG1
Band12 B3|12 21.78 cMStart49,429,443bp[2]
End49,433,644bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • endothelial cell

  • Brodmann area 23

  • ganglionic eminence

  • Region I of hippocampus proper

  • ventricular zone

  • middle temporal gyrus

  • orbitofrontal cortex

  • entorhinal cortex

  • Brodmann area 46

  • postcentral gyrus
Top expressed in
  • ganglionic eminence

  • medial ganglionic eminence

  • ventricular zone

  • subiculum

  • nucleus accumbens

  • olfactory tubercle

  • Rostral migratory stream

  • lateral septal nucleus

  • anterior amygdaloid area

  • prefrontal cortex
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

2290

15228

Ensembl

ENSG00000176165

ENSMUSG00000020950

UniProt

P55316

Q60987

RefSeq (mRNA)

NM_005249

NM_001160112
NM_008241

RefSeq (protein)

NP_005240

NP_001153584
NP_032267

Location (UCSC)Chr 14: 28.77 – 28.77 MbChr 12: 49.43 – 49.43 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Forkhead box protein G1 is aprotein that in humans is encoded by theFOXG1gene.[5][6][7]

Function

[edit]

This gene belongs to theforkhead family of transcription factors that is characterized by a distinct forkhead domain. The complete function of this gene has not yet been determined; however, it has been shown to play a role in the development of thebrain andtelencephalon. Mutations of FOXG1 are the cause of FoxG1 syndrome.[8]

Associated disorders

[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 anautism spectrum disorder and was previously considered a variant ofRett syndrome.[9][10]

Interactions

[edit]

FOXG1 has been shown tointeract withJARID1B.[11]

See also

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000176165Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000020950Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  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.doi:10.1006/geno.1994.1313.PMID 7959731.
  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.doi:10.1007/s00427-006-0128-x.PMID 17260156.S2CID 20867411.
  7. ^"Entrez Gene: FOXG1B forkhead box G1B".
  8. ^Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, Pollazzon M, Buoni S, Spiga O, Ricciardi S, Meloni I, Longo I, Mari F, Broccoli V, Zappella M, Renieri A (2008)."FOXG1 is responsible for the congenital variant of Rett syndrome".Am. J. Hum. Genet.83 (1):89–93.doi:10.1016/j.ajhg.2008.05.015.PMC 2443837.PMID 18571142.
  9. ^"FOXG1 syndrome".
  10. ^"FOXG1 Syndrome: More than a congenital variant of Rett Syndrome? | the University of Chicago Genetic Services".
  11. ^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.doi:10.1074/jbc.M301994200.PMID 12657635.

Further reading

[edit]

External links

[edit]
(1) Basic domains
(1.1) Basicleucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3)bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2)Zinc finger DNA-binding domains
(2.1)Nuclear receptor(Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3.1)Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3)Fork head /winged helix
(3.4)Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4)β-Scaffold factors with minor groove contacts
(4.1)Rel homology region
(4.2)STAT
(4.3) p53-like
(4.4)MADS box
(4.6)TATA-binding proteins
(4.7)High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3)Pocket domain
(0.5)AP-2/EREBP-related factors
(0.6) Miscellaneous

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.


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