FOXG1

Protein identityUniProt · HPA

UniProt accession

P55316

Gene

FOXG1

Ensembl

ENSG00000176165

Chromosome

14

Canonical length

489 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

OverviewNCBI 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 with Rett syndrome and a diverse spectrum of neurodevelopmental disorders defined as part of the FOXG1 syndrome. This gene is disregulated in many types of cancer and is the target of multiple microRNAs that regulate the proliferation of tumor cells. [provided by RefSeq, Jul 2020]

Canonical amino-acid sequenceUniProt

489 residues, UniProt reviewed canonical sequence.

>P55316|FOXG1
     1  MLDMGDRKEV KMIPKSSFSI NSLVPEAVQN DNHHASHGHH NSHHPQHHHH HHHHHHHPPP
    61  PAPQPPPPPQ QQQPPPPPPP APQPPQTRGA PAADDDKGPQ QLLLPPPPPP PPAAALDGAK
   121  ADGLGGKGEP GGGPGELAPV GPDEKEKGAG AGGEEKKGAG EGGKDGEGGK EGEKKNGKYE
   181  KPPFSYNALI MMAIRQSPEK RLTLNGIYEF IMKNFPYYRE NKQGWQNSIR HNLSLNKCFV
   241  KVPRHYDDPG KGNYWMLDPS SDDVFIGGTT GKLRRRSTTS RAKLAFKRGA RLTSTGLTFM
   301  DRAGSLYWPM SPFLSLHHPR ASSTLSYNGT TSAYPSHPMP YSSVLTQNSL GNNHSFSTAN
   361  GLSVDRLVNG EIPYATHHLT AAALAASVPC GLSVPCSGTY SLNPCSVNLL AGQTSYFFPH
   421  VPHPSMTSQS STSMSARAAS SSTSPQAPST LPCESLRPSL PSFTTGLSGG LSDYFTHQNQ
   481  GSSSNPLIH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FOXG1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.66

Highest tissue expression

26 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FOXG1.

Disease | AllUniProt

Conditions FOXG1 is implicated in, by any mechanism.

• Rett syndrome congenital variant (RTTCV) MIM:613454

Disease | GeneticClinVar

281 pathogenic / likely-pathogenic of 931 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• FOXG1 disorder
• Inborn genetic diseases
• Rett syndrome
• FOXG1-related disorder
• Neurodevelopmental disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.33

gnomAD pLI

0.94

gnomAD missense Z

3.49

DepMap mean gene effect

-0.05

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• axon midline choice point recognition
• brain development
• dorsal/ventral pattern formation
• inner ear morphogenesis
• negative regulation of DNA-templated transcription
• negative regulation of neuron differentiation
• negative regulation of transcription by RNA polymerase II
• neuroblast proliferation
• neuron fate determination
• positive regulation of cell cycle
• positive regulation of neuroblast proliferation
• positive regulation of neuron differentiation
• pyramidal neuron migration to cerebral cortex
• regulation of mitotic cell cycle
• regulation of transcription by RNA polymerase II

Molecular functions

• DNA binding
• DNA-binding transcription factor activity, RNA polymerase II-specific
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Fork head domain
• Fork head domain conserved site1
• Fork head domain conserved site 2
• Winged helix-like DNA-binding domain superfamily
• Winged helix DNA-binding domain superfamily
• Forkhead domain
• Forkhead box protein G1

KeywordsUniProt

• Developmental protein
• DNA-binding
• Intellectual disability
• Nucleus
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of FOXG1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• KDM5B
• TLE1