Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	344167
Gene name	Forkhead box I3
Gene symbol	FOXI3
Synonyms (NCBI Gene)	CFM2
Chromosome	2
Chromosome location	2p11.2

19 Show/Hide all (19)

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

MIM	HGNC	e!Ensembl
612351	35123	ENSG00000214336

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

Interactions

View interactions

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (8)
COLOR VISION DISORDER	—	GWAS catalog	37359372	★★★★★ ★★☆☆☆ 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	36808568	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
T-cell immunodeficiency	—	ClinGen	ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOOTH AGENESIS	—	GWAS catalog	29364747	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	36808568	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (9)
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

FOXI3 (forkhead box I3)

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