Format

Send to:

Choose Destination

FOXG1 forkhead box G1 [ Homo sapiens (human) ]

Gene ID: 2290, updated on 15-Jul-2018
Official Symbol
FOXG1provided by HGNC
Official Full Name
forkhead box G1provided by HGNC
Primary source
HGNC:HGNC:3811
See related
Ensembl:ENSG00000176165 MIM:164874; Vega:OTTHUMG00000140187
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BF1; BF2; QIN; FKH2; HBF2; HFK1; HFK2; HFK3; KHL2; FHKL3; FKHL1; FKHL2; FKHL3; FKHL4; HBF-1; HBF-2; HBF-3; FOXG1A; FOXG1B; FOXG1C; HBF-G2
Summary
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, Feb 2012]
Orthologs
See FOXG1 in Genome Data Viewer
Location:
14q12
Exon count:
1
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (28767072..28770277)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (29236278..29239483)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene basic transcription factor 3, pseudogene 2 Neighboring gene FOXG1 antisense RNA 1 Neighboring gene VISTA enhancer hs1064 Neighboring gene long intergenic non-protein coding RNA 1551 Neighboring gene long intergenic non-protein coding RNA 2282 Neighboring gene long intergenic non-protein coding RNA 2281

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Rett syndrome, congenital variant
MedGen: C3150705 OMIM: 613454 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-03-08)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-03-08)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Common genetic variants associated with resting oxygenation in chronic obstructive pulmonary disease.
NHGRI GWA Catalog
Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
NHGRI GWA Catalog
Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis.
NHGRI GWA Catalog
Joint influence of small-effect genetic variants on human longevity.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
aging IEA
Inferred from Electronic Annotation
more info
 
axon midline choice point recognition IEA
Inferred from Electronic Annotation
more info
 
brain development TAS
Traceable Author Statement
more info
PubMed 
dorsal/ventral pattern formation IEA
Inferred from Electronic Annotation
more info
 
inner ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
neuron fate determination IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell cycle IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuroblast proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
pyramidal neuron migration IEA
Inferred from Electronic Annotation
more info
 
regulation of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
forkhead box protein G1
Names
brain factor 1
brain factor 2
forkhead-like 1
forkhead-like 2
forkhead-like 3
forkhead-like 4
oncogene QIN

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009367.1 RefSeqGene

    Range
    4992..8197
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005249.4NP_005240.3  forkhead box protein G1

    See identical proteins and their annotated locations for NP_005240.3

    Status: REVIEWED

    Source sequence(s)
    AL049777, BC035020, DR001113, U44097, X74142
    Consensus CDS
    CCDS9636.1
    UniProtKB/Swiss-Prot
    P55316
    Related
    ENSP00000339004.3, OTTHUMP00000178764, ENST00000313071.6, OTTHUMT00000276559
    Conserved Domains (1) summary
    pfam00250
    Location:181266
    Forkhead; Forkhead domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    28767072..28770277
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center