FOXI3 (forkhead box I3)

Gene

• Entrez ID: 344167
• Gene name: Forkhead box I3
• Gene symbol: FOXI3
• Synonyms (NCBI Gene): CFM2
• Chromosome: 2
• Chromosome location: 2p11.2

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	37041148
GO:0001942	Process	Hair follicle development	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005634	Component	Nucleus	IDA	37041148
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0009653	Process	Anatomical structure morphogenesis	IBA
GO:0009957	Process	Epidermal cell fate specification	ISS
GO:0030154	Process	Cell differentiation	IBA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	ISS
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0048538	Process	Thymus development	ISS
GO:0060017	Process	Parathyroid gland development	ISS
GO:0060037	Process	Pharyngeal system development	IMP	37041148
GO:1905040	Process	Otic placode development	ISS

Other IDs

• MIM: 612351
• HGNC: 35123
• e!Ensembl: ENSG00000214336

Protein

• UniProt ID: A8MTJ6
• Protein name: Forkhead box protein I3
• Protein 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 f
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00250	Forkhead	144 → 230	Forkhead domain	Domain

• Sequence:

  MALYCGDNFGVYSQPGLPPPAATAAAPGAPPAARAPYGLADYAAPPAAAANPYLWLNGPG
  VGGPPSAAAAAAAAYLGAPPPPPPPGAAAGPFLQPPPAAGTFGCSQRPFAQPAPAAPASP
  AAPAGPGELGWLSMASREDLMKMVRPPYSYSALIAMAIQSAPERKLTLSHIYQFVADSFP
  FYQRSKAGWQNSIRHNLSLNDCFKKVPRDEDDPGKGNYWTLDPNCEKMFDNGNFRRKRKR
  RSEASNGSTVAAGTSKSEEGLSSGLGSGVGGKPEEESPSTLLRPSHSPEPPEGTKSTASS
  PGGPMLTSTPCLNTFFSSLSSLSVSSSVSTQRALPGSRHLGIQGAQLPSSGVFSPTSISE
  ASADTLQLSNSTSNSTGQRSSYYSPFPASTSGGQSSPFSSPFHNFSMVNSLIYPREGSEV
  

• Sequence length: 420

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Craniofacial microsomia	Likely pathogenic; Pathogenic	rs2528917171, rs2528910551, rs2528910500, rs955268781	RCV003324590 RCV003324591 RCV003324592 RCV003324593	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Craniofacial microsomia 1	Likely pathogenic	rs1316696594, rs182321240, rs1675993398	RCV003128120 RCV003333696 RCV003333697	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Craniofacial microsomia 2	Likely pathogenic; Pathogenic	rs1675993398, rs2528910500, rs955268781, rs2528916190	RCV003315378 RCV003313313 RCV003313314 RCV004017178	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOXI3-related disorder	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOLDENHAR SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMIFACIAL MICROSOMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOOTH AGENESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aural Atresia Congenital	Congenital aural atresia	Pubtator	36260083	Associate	★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	25655429		★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of thymus	Congenital Hypoplasia Of Thymus	BEFREE	31600545		★☆☆☆☆ Found in Text Mining only
Congenital Microtia	Congenital microtia	Pubtator	36260083	Associate	★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	31600545		★☆☆☆☆ Found in Text Mining only
Goldenhar Syndrome	Goldenhar syndrome	Pubtator	36260083	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphopenia	Lymphopenia	BEFREE	31600545		★☆☆☆☆ Found in Text Mining only