FOXI3
entrez
344167
canonical
uniprot
A8MTJ6
canonical
ensembl
ENSG00000214336
resolver
ensp
ENSP00000478384
resolver
enst
ENST00000428390
resolver
genesymbol
FOXI3
resolver
hgnc
HGNC:35123
resolver
uniprot
B5RI09
resolver
uniprot_entry
FOXI3_HUMAN
resolver
uniprot_sec
B5RI09
resolver
amino_acid_sequence
MALYCGDNFGVYSQPGLPPPAATAAAPGAPPAARAPYGLADYAAPPAAAANPYLWLNGPGVGGPPSAAAAAAAAYLGAPPPPPPPGAAAGPFLQPPPAAGTFGCSQRPFAQPAPAAPASPAAPAGPGELGWLSMASREDLMKMVRPPYSYSALIAMAIQSAPERKLTLSHIYQFVADSFPFYQRSKAGWQNSIRHNLSLNDCFKKVPRDEDDPGKGNYWTLDPNCEKMFDNGNFRRKRKRRSEASNGSTVAAGTSKSEEGLSSGLGSGVGGKPEEESPSTLLRPSHSPEPPEGTKSTASSPGGPMLTSTPCLNTFFSSLSSLSVSSSVSTQRALPGSRHLGIQGAQLPSSGVFSPTSISEASADTLQLSNSTSNSTGQRSSYYSPFPASTSGGQSSPFSSPFHNFSMVNSLIYPREGSEV
uniprot
proteins
disease_involvement
DISEASE: Craniofacial microsomia 2 (CFM2) [MIM:620444]: A form of craniofacial microsomia, a disorder characterized by a spectrum of craniofacial malformations ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft tissue, and/or facial nerve. Most CFM2 patients exhibit isolated unilateral or bilateral grade II/III microtia, with or without atresia, although some patients show only minor external ear defects. Mandibular hypoplasia, micrognathia, and dental anomalies have also been observed. CFM2 inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:36260083, ECO:0000269|PubMed:37041148}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor required for pharyngeal arch development, which is involved in hair, ear, jaw and dental development (PubMed:37041148). May act as a pioneer transcription factor during pharyngeal arch development (By similarity). Required for epithelial cell differentiation within the epidermis (By similarity). Acts at multiple stages of otic placode induction: necessary for preplacodal ectoderm to execute an inner ear program (By similarity). Required for hair follicle stem cell specification (By similarity). Acts downstream of TBX1 for the formation of the thymus and parathyroid glands from the third pharyngeal pouch (By similarity). {ECO:0000250|UniProtKB:D3Z120, ECO:0000269|PubMed:37041148}.
uniprot
proteins
mass_dalton
43326
uniprot
proteins
post_translational_modification
PTM: Phosphorylation promotes the transcription factor activity. Dephosphorylation by protein phosphatase 2A (PP2A) reduces its activity. {ECO:0000250|UniProtKB:D3Z120}.
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
18787161
uniprot
proteins
pubmed
36260083
uniprot
proteins
pubmed
37041148
uniprot
proteins
sequence_length
420
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:37041148}.
uniprot
proteins