FOXI1 Gene (Protein Coding)

Forkhead Box I1

GC05P170105
GIFtS:
38
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 protein has been found to be required for the transcription of four subunits of a proton pump found in the inner ear, the kidney, a... See more...

Aliases for FOXI1 Gene

Aliases for FOXI1 Gene

  • Forkhead Box I1 2 3 5
  • FREAC6 2 3 4
  • Hepatocyte Nuclear Factor 3 Forkhead Homolog 3 3 4
  • Forkhead-Related Transcription Factor 6 3 4
  • Forkhead-Related Protein FKHL10 3 4
  • Forkhead Box Protein I1 3 4
  • FREAC-6 3 4
  • FKHL10 3 4
  • HFH-3 3 4
  • Forkhead-Related Activator 6 3
  • HNF-3/Fork-Head Homolog-3 3
  • HNF-3/Fork-Head Homolog 3 4
  • Forkhead-Like 10 3
  • FKH10 3
  • FOXI1 5
  • HFH3 3

External Ids for FOXI1 Gene

Previous HGNC Symbols for FOXI1 Gene

  • FKHL10

Previous GeneCards Identifiers for FOXI1 Gene

  • GC05P169768
  • GC05P170236
  • GC05P169468
  • GC05P169513
  • GC05P169465
  • GC05P164630
  • GC05P169532

Summaries for FOXI1 Gene

Entrez Gene Summary for FOXI1 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 protein has been found to be required for the transcription of four subunits of a proton pump found in the inner ear, the kidney, and the epididymis. Mutations in this gene have been associated with deafness, autosomal recessive 4. [provided by RefSeq, Jan 2017]

GeneCards Summary for FOXI1 Gene

FOXI1 (Forkhead Box I1) is a Protein Coding gene. Diseases associated with FOXI1 include Pendred Syndrome and Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is FOXG1.

UniProtKB/Swiss-Prot Summary for FOXI1 Gene

  • 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 system in the inner ear. Also required for the expression of SLC4A1/AE1, SLC4A9/AE4, ATP6V1B1 and the differentiation of intercalated cells in the epithelium of distal renal tubules (By similarity).

Gene Wiki entry for FOXI1 Gene

Additional gene information for FOXI1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FOXI1 Gene

Genomics for FOXI1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for FOXI1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH05J170105 Promoter 0.5 EPDnew 250.7 0.0 -19 0.1 KLF1 ZNF512 FOXI1 HSALNG0046485 INSYN2B
GH05J170106 Promoter 0.4 Ensembl 261.5 +0.4 404 0.2 SCRT2 FOXI1 HSALNG0046486 C5orf58
GH05J170103 Enhancer 0.3 dbSUPER 261.6 -1.9 -1854 0.9 MZF1 CEBPG FOXI1 HSALNG0046485 INSYN2B
GH05J170132 Enhancer 0.7 Ensembl ENCODE dbSUPER 21.4 +26.8 26804 1.8 JUND FOS EP300 HSALNG0046487 lnc-LCP2-5 FOXI1 KCNIP1-OT1 KCNMB1 KRT18P41 HSALNG0046486 C5orf58
GH05J170143 Enhancer 0.6 Ensembl dbSUPER 21.8 +39.8 39804 0.6 RAD51 TOE1 L3MBTL2 FOS CTBP1 USF1 FOXI1 HSALNG0046488 HSALNG0046489 C5orf58
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FOXI1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FOXI1

Top Transcription factor binding sites by QIAGEN in the FOXI1 gene promoter:
  • CREB
  • deltaCREB
  • NRSF form 2
  • PPAR-gamma1
  • PPAR-gamma2
  • Sp1
  • Zic3

Genomic Locations for FOXI1 Gene

Latest Assembly
chr5:170,105,897-170,109,737
(GRCh38/hg38)
Size:
3,841 bases
Orientation:
Plus strand

Previous Assembly
chr5:169,532,901-169,536,741
(GRCh37/hg19 by Entrez Gene)
Size:
3,841 bases
Orientation:
Plus strand

chr5:169,532,901-169,536,727
(GRCh37/hg19 by Ensembl)
Size:
3,827 bases
Orientation:
Plus strand

Genomic View for FOXI1 Gene

Genes around FOXI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FOXI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FOXI1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for FOXI1 Gene

Proteins for FOXI1 Gene

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  • Protein details for FOXI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12951-FOXI1_HUMAN
    Recommended name:
    Forkhead box protein I1
    Protein Accession:
    Q12951
    Secondary Accessions:
    • Q14518
    • Q66SR7
    • Q8N6L8

    Protein attributes for FOXI1 Gene

    Size:
    378 amino acids
    Molecular mass:
    40973 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAB50574.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAU12169.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for FOXI1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FOXI1 Gene

Post-translational modifications for FOXI1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FOXI1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FOXI1 Gene

Domains & Families for FOXI1 Gene

Gene Families for FOXI1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for FOXI1 Gene

InterPro:

Suggested Antigen Peptide Sequences for FOXI1 Gene

GenScript: Design optimal peptide antigens:
  • Forkhead box I1, isoform CRA_b (E0XEN6_HUMAN)
  • Forkhead box I1 (E0XEY9_HUMAN)
  • Hepatocyte nuclear factor 3 forkhead homolog 3 (FOXI1_HUMAN)
genes like me logo Genes that share domains with FOXI1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FOXI1 Gene

Function for FOXI1 Gene

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  6. Cell Lines for research

Molecular function for FOXI1 Gene

UniProtKB/Swiss-Prot 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 system in the inner ear. Also required for the expression of SLC4A1/AE1, SLC4A9/AE4, ATP6V1B1 and the differentiation of intercalated cells in the epithelium of distal renal tubules (By similarity).
GENATLAS Biochemistry:
transcription factor-like 10,with a Drosophila homeo forkhead DNA binding domain homolog

Phenotypes From GWAS Catalog for FOXI1 Gene

Gene Ontology (GO) - Molecular Function for FOXI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding ISS --
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 19214237
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IDA 19214237
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with FOXI1: view
genes like me logo Genes that share phenotypes with FOXI1: view

Human Phenotype Ontology for FOXI1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FOXI1 Gene

MGI Knock Outs for FOXI1:

Animal Models for research

miRNA for FOXI1 Gene

miRTarBase miRNAs that target FOXI1

Transcription Factor Targets for FOXI1 Gene

Selected GeneGlobe predicted Target genes for FOXI1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FOXI1

No data available for Enzyme Numbers (IUBMB) and HOMER Transcription for FOXI1 Gene

Localization for FOXI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FOXI1 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FOXI1 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FOXI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IEA,IC 19214237
GO:0005730 nucleolus IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with FOXI1: view

Pathways & Interactions for FOXI1 Gene

PathCards logo

SuperPathways for FOXI1 Gene

No Data Available

SIGNOR curated interactions for FOXI1 Gene

Activates:

Gene Ontology (GO) - Biological Process for FOXI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0009653 anatomical structure morphogenesis IBA 21873635
GO:0009792 embryo development ending in birth or egg hatching NAS 7957066
GO:0030154 cell differentiation IBA 21873635
genes like me logo Genes that share ontologies with FOXI1: view

No data available for Pathways by source for FOXI1 Gene

Drugs & Compounds for FOXI1 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for FOXI1 Gene

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  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for FOXI1 Gene

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FOXI1

Alternative Splicing Database (ASD) splice patterns (SP) for FOXI1 Gene

No ASD Table

Relevant External Links for FOXI1 Gene

GeneLoc Exon Structure for
FOXI1

Expression for FOXI1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FOXI1 Gene

mRNA expression in normal human tissues for FOXI1 Gene
mRNA expression by BioGPS for FOXI1 GenemRNA expression by GTEx for FOXI1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FOXI1 Gene

This gene is overexpressed in Kidney - Cortex (x35.9) and Minor Salivary Gland (x5.5).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FOXI1

SOURCE GeneReport for Unigene cluster for FOXI1 Gene:

Hs.87236

mRNA Expression by UniProt/SwissProt for FOXI1 Gene:

Q12951-FOXI1_HUMAN
Tissue specificity: Expressed in kidney.

Evidence on tissue expression from TISSUES for FOXI1 Gene

  • Kidney(4.5)
  • Intestine(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FOXI1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • hypothalamus
  • inner ear
  • neck
  • parathyroid
  • pituitary gland
  • skull
  • thyroid
Thorax:
  • heart
  • lung
Abdomen:
  • intestine
  • large intestine
  • small intestine
Pelvis:
  • uterus
General:
  • blood
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with FOXI1: view

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for FOXI1 Gene

Orthologs for FOXI1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FOXI1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia FOXI1 29 30
  • 99.03 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia FOXI1 29 30
  • 89.57 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia FOXI1 29 30
  • 86.04 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Foxi1 29
  • 84.64 (n)
Mouse
(Mus musculus)
 Mammalia Foxi1 29 16 30
  • 84.01 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia FOXI1 30
  • 77 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia FOXI1 30
  • 68 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves FOXI1 29 30
  • 69.16 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia FOXI1 30
  • 71 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia foxi1 29
  • 66.93 (n)
MGC75815 29
African clawed frog
(Xenopus laevis)
 Amphibia foxi1-prov 29
Zebrafish
(Danio rerio)
 Actinopterygii foxi3b 29 30
  • 60.5 (n)
 OneToMany
foxi3a 30
  • 54 (a)
 OneToMany
foxi2 30
  • 50 (a)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta croc 30
  • 17 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 17 (a)
 ManyToMany
Species where no ortholog for FOXI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for FOXI1 Gene

ENSEMBL:
Gene Tree for FOXI1 (if available)
TreeFam:
Gene Tree for FOXI1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FOXI1: view image
Alliance of Genome Resources:
Additional Orthologs for FOXI1

Paralogs for FOXI1 Gene

Paralogs for FOXI1 Gene

(9) SIMAP similar genes for FOXI1 Gene using alignment to 3 proteins:

  • FOXI1_HUMAN
  • E0XEN6_HUMAN
  • E0XEY9_HUMAN
genes like me logo Genes that share paralogs with FOXI1: view

Variants for FOXI1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FOXI1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
1029179 Pathogenic: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 170,106,106(+) AG/A
NM_012188.5(FOXI1):c.155del (p.Gly52fs) 		FRAMESHIFT
904623 Uncertain Significance: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 170,106,020(+) C/T
NM_012188.5(FOXI1):c.63C>T (p.Ile21=) 		SYNONYMOUS
904624 Uncertain Significance: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 170,106,118(+) A/G
NM_012188.5(FOXI1):c.161A>G (p.Glu54Gly) 		MISSENSE
904625 Uncertain Significance: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 170,106,226(+) G/A
NM_012188.5(FOXI1):c.269G>A (p.Gly90Glu) 		MISSENSE
904688 Uncertain Significance: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 170,108,685(+) G/A
NM_012188.5(FOXI1):c.*74G>A 		THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FOXI1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FOXI1 Gene

Variant ID Type Subtype PubMed ID
nsv830547 CNV gain+loss 17160897

Variation tolerance for FOXI1 Gene

Residual Variation Intolerance Score: 40.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.15; 23.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FOXI1 Gene

Human Gene Mutation Database (HGMD)
FOXI1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FOXI1
Leiden Open Variation Database (LOVD)
FOXI1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FOXI1 Gene

Disorders for FOXI1 Gene

MalaCards: The human disease database

(19) MalaCards diseases for FOXI1 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search FOXI1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FOXI1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FOXI1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FOXI1 Gene

Publications for FOXI1 Gene

  1. The winged helix transcriptional activator HFH-3 is expressed in the distal tubules of embryonic and adult mouse kidney. (PMID: 9153225) Overdier DG … Costa RH (The Journal of biological chemistry 1997) 3 4 22
  2. Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending. (PMID: 7957066) Pierrou S … Carlsson P (The EMBO journal 1994) 2 3 4
  3. Acidosis and Deafness in Patients with Recessive Mutations in FOXI1. (PMID: 29242249) Enerbäck S … Sayer JA (Journal of the American Society of Nephrology : JASN 2018) 3 72
  4. Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct. (PMID: 20621367) Jonard L … Marlin S (International journal of pediatric otorhinolaryngology 2010) 3 40
  5. Candidate gene analysis in primary lymphedema. (PMID: 18564921) Ferrell RE … Finegold DN (Lymphatic research and biology 2008) 3 40

ExternalLinks

View latest publications for FOXI1 gene in Mastermind

Products for FOXI1 Gene

  • Addgene plasmids for FOXI1

Sources for FOXI1 Gene