FOXG1
entrez
2290
canonical
uniprot
P55316
canonical
ensembl
ENSG00000176165
resolver
ensp
ENSP00000339004
resolver
ensp
ENSP00000516406
resolver
enst
ENST00000313071
resolver
enst
ENST00000706482
resolver
genesymbol
FOXG1
resolver
genesymbol_syn
FKH2
resolver
genesymbol_syn
FKHL1
resolver
genesymbol_syn
FKHL2
resolver
genesymbol_syn
FKHL3
resolver
genesymbol_syn
FKHL4
resolver
genesymbol_syn
FOXG1A
resolver
genesymbol_syn
FOXG1B
resolver
genesymbol_syn
FOXG1C
resolver
hgnc
HGNC:3811
resolver
uniprot
A6NFY2
resolver
uniprot
P55315
resolver
uniprot
Q14488
resolver
uniprot
Q86XT7
resolver
uniprot_entry
FOXG1_HUMAN
resolver
uniprot_sec
A6NFY2
resolver
uniprot_sec
P55315
resolver
uniprot_sec
Q14488
resolver
uniprot_sec
Q86XT7
resolver
amino_acid_sequence
MLDMGDRKEVKMIPKSSFSINSLVPEAVQNDNHHASHGHHNSHHPQHHHHHHHHHHHPPPPAPQPPPPPQQQQPPPPPPPAPQPPQTRGAPAADDDKGPQQLLLPPPPPPPPAAALDGAKADGLGGKGEPGGGPGELAPVGPDEKEKGAGAGGEEKKGAGEGGKDGEGGKEGEKKNGKYEKPPFSYNALIMMAIRQSPEKRLTLNGIYEFIMKNFPYYRENKQGWQNSIRHNLSLNKCFVKVPRHYDDPGKGNYWMLDPSSDDVFIGGTTGKLRRRSTTSRAKLAFKRGARLTSTGLTFMDRAGSLYWPMSPFLSLHHPRASSTLSYNGTTSAYPSHPMPYSSVLTQNSLGNNHSFSTANGLSVDRLVNGEIPYATHHLTAAALAASVPCGLSVPCSGTYSLNPCSVNLLAGQTSYFFPHVPHPSMTSQSSTSMSARAASSSTSPQAPSTLPCESLRPSLPSFTTGLSGGLSDYFTHQNQGSSSNPLIH
uniprot
proteins
disease_involvement
DISEASE: Rett syndrome congenital variant (RTTCV) [MIM:613454]: A severe neurodevelopmental disorder with features of classic Rett syndrome but earlier onset in the first months of life. Clinical features include progressive microcephaly, hypotonia, irresponsiveness and irritability in the neonatal period, intellectual disability, psychomotor regression and stereotypical movements. {ECO:0000269|PubMed:19578037, ECO:0000269|PubMed:21280142, ECO:0000269|PubMed:26993267}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription repression factor which plays an important role in the establishment of the regional subdivision of the developing brain and in the development of the telencephalon. {ECO:0000269|PubMed:12657635}.
uniprot
proteins
mass_dalton
52352
uniprot
proteins
mutagenesis
MUTAGEN 388..389; /note="VP->AA: Abolishes interaction with KDM5B."; /evidence="ECO:0000269|PubMed:12657635"; MUTAGEN 394..395; /note="VP->AA: Abolishes interaction with KDM5B."; /evidence="ECO:0000269|PubMed:12657635"; MUTAGEN 404; /note="P->A: Abolishes interaction with KDM5B."; /evidence="ECO:0000269|PubMed:12657635
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
12657635
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17260156
uniprot
proteins
pubmed
19578037
uniprot
proteins
pubmed
21280142
uniprot
proteins
pubmed
26993267
uniprot
proteins
pubmed
7599184
uniprot
proteins
pubmed
7959731
uniprot
proteins
sequence_length
489
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00089, ECO:0000269|PubMed:21280142}.
uniprot
proteins