Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	2299
Gene name	Forkhead box I1
Gene symbol	FOXI1
Synonyms (NCBI Gene)	FKH10FKHL10FREAC-6FREAC6HFH-3HFH3
Chromosome	5
Chromosome location	5q35.1
Summary	This gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. This gene may play an important role in the development of the cochlea and vestibulum, as well as in embryogenesis. The encoded protei

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909340	G>A	Pathogenic, uncertain-significance	Intron variant, missense variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs121909341	G>A,C	Pathogenic	Intron variant, missense variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs147596900	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant, intron variant

Show/Hide all (23)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017392	hsa-miR-335-5p	Microarray	18185580
MIRT1001668	hsa-miR-1184	CLIP-seq
MIRT1001669	hsa-miR-1205	CLIP-seq
MIRT1001670	hsa-miR-1293	CLIP-seq
MIRT1001671	hsa-miR-3158-5p	CLIP-seq
MIRT1001672	hsa-miR-3194-3p	CLIP-seq
MIRT1001673	hsa-miR-342-5p	CLIP-seq
MIRT1001674	hsa-miR-3611	CLIP-seq
MIRT1001675	hsa-miR-4269	CLIP-seq
MIRT1001676	hsa-miR-4483	CLIP-seq
MIRT1001677	hsa-miR-4651	CLIP-seq
MIRT1001678	hsa-miR-4664-5p	CLIP-seq
MIRT1001679	hsa-miR-608	CLIP-seq
MIRT1001680	hsa-miR-758	CLIP-seq
MIRT1001681	hsa-miR-876-3p	CLIP-seq
MIRT1996834	hsa-miR-3680	CLIP-seq
MIRT1996835	hsa-miR-4428	CLIP-seq
MIRT1996836	hsa-miR-4719	CLIP-seq
MIRT1996837	hsa-miR-4798-3p	CLIP-seq
MIRT1996838	hsa-miR-539	CLIP-seq
MIRT1001668	hsa-miR-1184	CLIP-seq
MIRT1001669	hsa-miR-1205	CLIP-seq
MIRT1001671	hsa-miR-3158-5p	CLIP-seq

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	19214237
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
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	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	19214237
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	19214237
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IC	19214237
GO:0005634	Component	Nucleus	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008301	Function	DNA binding, bending	NAS	7957066
GO:0009653	Process	Anatomical structure morphogenesis	IBA
GO:0009792	Process	Embryo development ending in birth or egg hatching	NAS	7957066
GO:0030154	Process	Cell differentiation	IBA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	19214237
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
601093	3815	ENSG00000168269

Q12951

Protein name

Forkhead box protein I1 (Forkhead-related protein FKHL10) (Forkhead-related transcription factor 6) (FREAC-6) (Hepatocyte nuclear factor 3 forkhead homolog 3) (HFH-3) (HNF-3/fork-head homolog 3)

Protein function

Transcriptional activator required for the development of normal hearing, sense of balance and kidney function. Required for the expression of SLC26A4/PDS, JAG1 and COCH in a subset of epithelial cells and the development of the endolymphatic sy

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00250	Forkhead	122 → 208	Forkhead domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in kidney.

Sequence

MSSFDLPAPSPPRCSPQFPSIGQEPPEMNLYYENFFHPQGVPSPQRPSFEGGGEYGATPN
PYLWFNGPTMTPPPYLPGPNASPFLPQAYGVQRPLLPSVSGLGGSDLGWLPIPSQEELMK
LVRPPYSYSALIAMAIHGAPDKRLTLSQIYQYVADNFPFYNKSKAGWQNSIRHNLSLNDC
FKKVPRDEDDPGKGNYWTLDPNCEKMFDNGNFRRKRKRKSDVSSSTASLALEKTESSLPV
DSPKTTEPQDILDGASPGGTTSSPEKRPSPPPSGAPCLNSFLSSMTAYVSGGSPTSHPLV
TPGLSPEPSDKTGQNSLTFNSFSPLTNLSNHSGGGDWANPMPTNMLSYGGSVLSQFSPHF
YNSVNTSGVLYPREGTEV

Sequence length

378

Interactions

View interactions

105

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hearing impairment	Likely pathogenic	rs777573595	RCV001375208

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autosomal recessive nonsyndromic hearing loss 4	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs1053809070, rs371025378, rs951259617, rs550209761, rs145129881, rs35678180, rs142841909, rs1340942654, rs745736470, rs147580330, rs139420743, rs1026750367, rs745971973, rs121909340, rs121909341 View all (53 more)	RCV002493908 RCV005042642 RCV002490104 RCV002500147 RCV002486821 RCV001153928 RCV005047409 RCV005042930 RCV005034414 RCV005034402 RCV005034475 RCV005034512 RCV005047369 RCV000008964 RCV000008965 RCV003144084 RCV000304739 RCV000371853 RCV000310563 RCV000269314 RCV000367498 RCV000358373 RCV000387339 RCV000282844 RCV000397325 RCV000398506 RCV000364853 RCV000336670 RCV000292214 RCV000314796 RCV000346990 RCV000357219 RCV000259836 RCV000374423 RCV000295397 RCV000301603 RCV000278973 RCV000377507 RCV000381803 RCV000306093 RCV000261246 RCV000388431 RCV005038652 RCV005038653 RCV001153927 RCV001158231 RCV005034174 RCV001158230 RCV001153925 RCV001152643 RCV001152644 RCV001152645 RCV001153926 RCV001153929 RCV001154781 RCV001158229 RCV001158232 RCV001152747 RCV001152748 RCV001152749 RCV001152750 RCV001152751 RCV001154028 RCV001154868 RCV001154869 RCV001154870 RCV001154871 RCV001154872
Cervical cancer	Benign	rs6555888	RCV005898970
FOXI1-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	rs145129881, rs35678180, rs751079599, rs577415258, rs148101435, rs553561553, rs370450076, rs114293092, rs137901435, rs149203108, rs1356467120, rs774945168, rs202093484, rs115399307, rs141924917, rs142009641, rs55685928, rs373094576 View all (3 more)	RCV003911260 RCV003977433 RCV003954051 RCV003963417 RCV003926531 RCV004757986 RCV003912503 RCV003922555 RCV003922554 RCV003932448 RCV003919350 RCV003962091 RCV003942149 RCV003925770 RCV003952974 RCV003926053 RCV003913217 RCV003933010
Nonsyndromic Hearing Loss, Mixed	Likely benign; Uncertain significance	rs3839285, rs886060400	RCV000331612 RCV000395183
Pendred syndrome	Uncertain significance; Likely benign	rs1053809070, rs951259617, rs550209761, rs145129881, rs121909340, rs121909341, rs764490860, rs886060400, rs772882906, rs755810719	RCV002493908 RCV002490104 RCV002500147 RCV002486821 RCV002490341 RCV000008966 RCV002502359 RCV000349533 RCV002480556 RCV002497580
Sarcoma	Benign	rs6555888	RCV005898971

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acidosis	Associate	29242249
Acidosis Renal Tubular	Associate	29242249
Adenoma Chromophobe	Associate	28793269
Carcinoma Large Cell	Stimulate	38168015
Carcinoma Renal Cell	Associate	32299640, 36681680
Congenital bilateral aplasia of vas deferens	Associate	20972246
Dystonic Disorders	Associate	37182269
Hearing Loss	Associate	36499699
Hearing Loss Sensorineural	Associate	29242249
Kidney Neoplasms	Associate	36816543
Labyrinth Diseases	Associate	36499699
Neoplasms	Associate	36816543
Pendred syndrome	Associate	30268946
Stomach Neoplasms	Associate	28358374

FOXI1 (forkhead box I1)