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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2299
Gene name Gene Name - the full gene name approved by the HGNC.	Forkhead box I1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FOXI1
Synonyms (NCBI Gene) Gene synonyms aliases	FKH10, FKHL10, FREAC-6, FREAC6, HFH-3, HFH3
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q35.1
Summary Summary of gene provided in NCBI Entrez Gene.	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(20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	ISS
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	19214237
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
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:0003700	Function	DNA-binding transcription factor activity	IDA	19214237
GO:0005634	Component	Nucleus	IC	19214237
GO:0005730	Component	Nucleolus	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0008301	Function	DNA binding, bending	NAS	7957066
GO:0009653	Process	Anatomical structure morphogenesis	IBA	21873635
GO:0009792	Process	Embryo development ending in birth or egg hatching	NAS	7957066
GO:0030154	Process	Cell differentiation	IBA	21873635
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043565	Function	Sequence-specific DNA binding	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	19214237
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
601093	3815	ENSG00000168269

Protein

UniProt ID

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

Show/Hide Causal Diseases (9)

Disease term	Disease name	dbSNP ID	References
Causal
Deafness	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT	rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822 View all (1019 more)	29242249
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hyperparathyroidism	Hyperparathyroidism	rs28942098, rs121434262, rs80356649, rs121434264, rs587776558, rs587776559, rs121909259, rs104893689, rs28936684, rs104893690, rs869320729, rs104893700, rs104893705, rs104893707, rs104893709 View all (14 more)
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912 View all (22 more)
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Pendred syndrome	Pendred syndrome, Pendred`s syndrome	rs121908360, rs111033308, rs80338848, rs28939086, rs80338849, rs111033244, rs111033303, rs121908364, rs121908362, rs121908363, rs765884316, rs111033307, rs111033348, rs1584344687, rs2129315781 View all (141 more)
Renal tubular acidosis	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, Autosomal recessive distal renal tubular acidosis	rs121908367, rs28939081, rs769664228, rs121912745, rs121912748, rs121912751, rs121912752, rs28931584, rs121912754, rs878853002, rs763982675, rs769164245, rs768446132, rs1443883930, rs754517968 View all (5 more)	29242249

Show/Hide Unknown Diseases (4)

Disease term	Disease name	Evidence	Source
Unknown
Hearing Loss	hearing loss disorder		GenCC
Pendred Syndrome	Pendred syndrome		GenCC
Renal Tubular Acidosis	autosomal recessive distal renal tubular acidosis		GenCC
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients	GWAS, CBGDA

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text Mining
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)