This gene encodes a member of the forkhead family of transcription factors. Similar genes in zebrafish and mouse have been shown to regulate the transcription of genes that control the production of motile cilia. The mouse ortholog also functions in the determination of left-right asymmetry. Polymorphisms in this gene are associated with systemic lupus erythematosus and allergi... See more...

Aliases for FOXJ1 Gene

Aliases for FOXJ1 Gene

  • Forkhead Box J1 2 3 5
  • HFH-4 2 3 4
  • HFH4 2 3 4
  • Hepatocyte Nuclear Factor 3 Forkhead Homolog 4 3 4
  • Forkhead-Related Protein FKHL13 3 4
  • Forkhead Box Protein J1 3 4
  • FKHL13 3 4
  • Forkhead Transcription Factor HFH-4 3
  • Fork Head Homologue 4 3
  • Forkhead-Like 13 3
  • CILD43 3
  • FOXJ1 5

External Ids for FOXJ1 Gene

Previous HGNC Symbols for FOXJ1 Gene

  • FKHL13

Previous GeneCards Identifiers for FOXJ1 Gene

  • GC17M073990
  • GC17M077124
  • GC17M074596
  • GC17M074729
  • GC17M071644
  • GC17M074132
  • GC17M069561

Summaries for FOXJ1 Gene

Entrez Gene Summary for FOXJ1 Gene

  • This gene encodes a member of the forkhead family of transcription factors. Similar genes in zebrafish and mouse have been shown to regulate the transcription of genes that control the production of motile cilia. The mouse ortholog also functions in the determination of left-right asymmetry. Polymorphisms in this gene are associated with systemic lupus erythematosus and allergic rhinitis.[provided by RefSeq, Sep 2009]

GeneCards Summary for FOXJ1 Gene

FOXJ1 (Forkhead Box J1) is a Protein Coding gene. Diseases associated with FOXJ1 include Ciliary Dyskinesia, Primary, 43 and Primary Ciliary Dyskinesia. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and DNA-binding transcription factor activity, RNA polymerase II-specific. An important paralog of this gene is FOXK2.

UniProtKB/Swiss-Prot Summary for FOXJ1 Gene

  • Transcription factor specifically required for the formation of motile cilia (PubMed:31630787). Acts by activating transcription of genes that mediate assembly of motile cilia, such as CFAP157. Binds the DNA consensus sequences 5'-HWDTGTTTGTTTA-3' or 5'-KTTTGTTGTTKTW-3' (where H is not G, W is A or T, D is not C, and K is G or T). Activates the transcription of a variety of ciliary proteins in the developing brain and lung.

Gene Wiki entry for FOXJ1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FOXJ1 Gene

Genomics for FOXJ1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FOXJ1 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
GH17J076145 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 0.0 -15 2.1 CHD2 MXD4 SP1 ZFP64 MBD2 ZEB1 ZNF610 THAP11 SIN3A HCFC1 FOXJ1 UNK SRSF2 ENSG00000267342 NUP85 GGA3 ENSG00000267546 ENSG00000266980 CDK3 TRIM65
GH17J076139 Enhancer 0.5 ENCODE 250.7 +1.2 1227 0.3 BHLHE40 EBF1 EZH2 MBD1 POLR2A BACH1 CTCF FOXJ1 RNF157-AS1 piR-45710 EXOC7
GH17J076140 Enhancer 0.3 ENCODE 250.7 +1.8 1810 0.2 EZH2 FOXJ1 RNF157-AS1 piR-45710 EXOC7
GH17J076258 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.7 -126.7 -126730 19.6 ZSCAN16 CHD2 TBP ZBTB10 SP1 MXD4 BCL11A CEBPA PLRG1 NR2C1 UBALD2 UNK ENSG00000267342 SRSF2 TRIM65 ENSG00000267546 ENSG00000266980 EXOC7 SAP30BP RNF157
GH17J076238 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11 -99.4 -99429 3.6 CHD2 TBP SP1 MNT IKZF1 SMAD5 BHLHE40 ZIC2 ARNT SIN3A RNF157 HSALNG0118818 UBALD2 FOXJ1 QRICH2 AANAT UBE2O HSALNG0118817
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FOXJ1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FOXJ1

Top Transcription factor binding sites by QIAGEN in the FOXJ1 gene promoter:
  • FOXO1
  • FOXO1a
  • FOXO4
  • NF-kappaB1
  • Nkx5-1
  • RREB-1

Genomic Locations for FOXJ1 Gene

Latest Assembly
chr17:76,136,333-76,141,245
(GRCh38/hg38)
Size:
4,913 bases
Orientation:
Minus strand

Previous Assembly
chr17:74,132,414-74,137,326
(GRCh37/hg19 by Entrez Gene)
Size:
4,913 bases
Orientation:
Minus strand

chr17:74,132,414-74,137,380
(GRCh37/hg19 by Ensembl)
Size:
4,967 bases
Orientation:
Minus strand

Genomic View for FOXJ1 Gene

Genes around FOXJ1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FOXJ1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FOXJ1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FOXJ1 Gene

Proteins for FOXJ1 Gene

  • Protein details for FOXJ1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92949-FOXJ1_HUMAN
    Recommended name:
    Forkhead box protein J1
    Protein Accession:
    Q92949
    Secondary Accessions:
    • O00630

    Protein attributes for FOXJ1 Gene

    Size:
    421 amino acids
    Molecular mass:
    45247 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FOXJ1 Gene

Post-translational modifications for FOXJ1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FOXJ1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FOXJ1 Gene

Domains & Families for FOXJ1 Gene

Gene Families for FOXJ1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for FOXJ1 Gene

Suggested Antigen Peptide Sequences for FOXJ1 Gene

GenScript: Design optimal peptide antigens:
  • Hepatocyte nuclear factor 3 forkhead homolog 4 (FOXJ1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92949

UniProtKB/Swiss-Prot:

FOXJ1_HUMAN :
  • Belongs to the FOXJ1 family.
Family:
  • Belongs to the FOXJ1 family.
genes like me logo Genes that share domains with FOXJ1: view

Function for FOXJ1 Gene

Molecular function for FOXJ1 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor specifically required for the formation of motile cilia (PubMed:31630787). Acts by activating transcription of genes that mediate assembly of motile cilia, such as CFAP157. Binds the DNA consensus sequences 5'-HWDTGTTTGTTTA-3' or 5'-KTTTGTTGTTKTW-3' (where H is not G, W is A or T, D is not C, and K is G or T). Activates the transcription of a variety of ciliary proteins in the developing brain and lung.
GENATLAS Biochemistry:
transcription factor-like 13,with a Drosophila homeo forkhead DNA binding domain,mouse hepatocyte nuclear factor 3 homolog,expression confined to cilia/flagella producing cells

Phenotypes From GWAS Catalog for FOXJ1 Gene

Gene Ontology (GO) - Molecular Function for FOXJ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA 9096351
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific ISS --
GO:0003677 DNA binding NAS 9073514
genes like me logo Genes that share ontologies with FOXJ1: view
genes like me logo Genes that share phenotypes with FOXJ1: view

Human Phenotype Ontology for FOXJ1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FOXJ1 Gene

MGI Knock Outs for FOXJ1:

miRNA for FOXJ1 Gene

miRTarBase miRNAs that target FOXJ1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FOXJ1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FOXJ1 Gene

Localization for FOXJ1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FOXJ1 Gene

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 FOXJ1 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for FOXJ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IBA,IDA 17008636
genes like me logo Genes that share ontologies with FOXJ1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FOXJ1 Gene

Pathways & Interactions for FOXJ1 Gene

genes like me logo Genes that share pathways with FOXJ1: view

Pathways by source for FOXJ1 Gene

Gene Ontology (GO) - Biological Process for FOXJ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II ISS --
GO:0002508 central tolerance induction ISS --
GO:0002635 negative regulation of germinal center formation ISS --
GO:0002897 positive regulation of central B cell tolerance induction ISS --
GO:0002924 negative regulation of humoral immune response mediated by circulating immunoglobulin ISS --
genes like me logo Genes that share ontologies with FOXJ1: view

No data available for SIGNOR curated interactions for FOXJ1 Gene

Drugs & Compounds for FOXJ1 Gene

No Compound Related Data Available

Transcripts for FOXJ1 Gene

mRNA/cDNA for FOXJ1 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 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 FOXJ1

Alternative Splicing Database (ASD) splice patterns (SP) for FOXJ1 Gene

No ASD Table

Relevant External Links for FOXJ1 Gene

GeneLoc Exon Structure for
FOXJ1

Expression for FOXJ1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FOXJ1 Gene

mRNA differential expression in normal tissues according to GTEx for FOXJ1 Gene

This gene is overexpressed in Fallopian Tube (x9.2), Testis (x7.5), Cervix - Endocervix (x6.7), Brain - Caudate (basal ganglia) (x4.1), and Brain - Hypothalamus (x4.0).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FOXJ1

SOURCE GeneReport for Unigene cluster for FOXJ1 Gene:

Hs.651204

mRNA Expression by UniProt/SwissProt for FOXJ1 Gene:

Q92949-FOXJ1_HUMAN
Tissue specificity: Testis, oviduct, lung and brain cortex.

Evidence on tissue expression from TISSUES for FOXJ1 Gene

  • Lung(4.6)
  • Nervous system(4.4)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with FOXJ1: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for FOXJ1 Gene

Orthologs for FOXJ1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for FOXJ1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FOXJ1 30 31
  • 99.52 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FOXJ1 30 31
  • 93.27 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FOXJ1 30 31
  • 91.69 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FOXJ1 31
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Foxj1 30 17 31
  • 88.04 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Foxj1 30
  • 87.97 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia FOXJ1 31
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FOXJ1 30
  • 71.06 (n)
Lizard
(Anolis carolinensis)
Reptilia FOXJ1 31
  • 62 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia foxj1 30
  • 66.26 (n)
Str.533 30
African clawed frog
(Xenopus laevis)
Amphibia foxJ1' 30
Zebrafish
(Danio rerio)
Actinopterygii foxj1a 30 31
  • 63.07 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FKH1 31
  • 13 (a)
ManyToMany
FKH2 31 33
  • 11 (a)
ManyToMany
Species where no ortholog for FOXJ1 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)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 Squirt (Ciona savignyi)
  • 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 FOXJ1 Gene

ENSEMBL:
Gene Tree for FOXJ1 (if available)
TreeFam:
Gene Tree for FOXJ1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FOXJ1: view image

Paralogs for FOXJ1 Gene

Variants for FOXJ1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FOXJ1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs1598372791 Pathogenic: Ciliary dyskinesia, primary, 43 76,137,651(-) TC/T
NM_001454.4(FOXJ1):c.967del (p.Glu323fs)
FRAMESHIFT
rs1598372830 Pathogenic: Ciliary dyskinesia, primary, 43 76,137,718(-) C/A
NM_001454.4(FOXJ1):c.901G>T (p.Glu301Ter)
NONSENSE
rs1598372841 Pathogenic: Ciliary dyskinesia, primary, 43 76,137,747(-) G/GTGCT
NM_001454.4(FOXJ1):c.868_871dup (p.Thr291fs)
FRAMESHIFT
rs1598372878 Pathogenic: Ciliary dyskinesia, primary, 43 76,137,793(-) G/A
NM_001454.4(FOXJ1):c.826C>T (p.Gln276Ter)
NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FOXJ1 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 FOXJ1 Gene

Variant ID Type Subtype PubMed ID
nsv833546 CNV loss 17160897

Variation tolerance for FOXJ1 Gene

Residual Variation Intolerance Score: 85.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.09; 38.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FOXJ1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FOXJ1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FOXJ1 Gene

Disorders for FOXJ1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for FOXJ1 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 43
  • cild43
primary ciliary dyskinesia
  • ciliary motility disorder
obstructive hydrocephalus
rhinitis
  • runny nose
allergic rhinitis
  • alrh
- elite association - COSMIC cancer census association via MalaCards
Search FOXJ1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FOXJ1_HUMAN
  • Allergic rhinitis (ALRH) [MIM:607154]: A common disease with complex inheritance characterized by mucosal inflammation caused by allergen exposure. {ECO:0000269 PubMed:16518568}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
  • Ciliary dyskinesia, primary, 43 (CILD43) [MIM:618699]: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients with this disorder also develop significant obstructive hydrocephalus. Other more variable features include infertility and about a 50% chance of situs inversus or other left-right asymmetry defects. CILD43 inheritance is autosomal dominant. {ECO:0000269 PubMed:31630787}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for FOXJ1

Genetic Association Database
(GAD)
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 FOXJ1: view

No data available for Genatlas for FOXJ1 Gene

Publications for FOXJ1 Gene

  1. Identification of single nucleotide polymorphisms in FOXJ1 and their association with allergic rhinitis. (PMID: 16518568) Li CS … Chung HT (Journal of human genetics 2006) 2 3 4 41
  2. The human hepatocyte nuclear factor 3/fork head gene FKHL13: genomic structure and pattern of expression. (PMID: 9073514) Murphy DB … Thies U (Genomics 1997) 2 3 4 23
  3. De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. (PMID: 31630787) Wallmeier J … Omran H (American journal of human genetics 2019) 3 4 74
  4. A human forkhead/winged-helix transcription factor expressed in developing pulmonary and renal epithelium. (PMID: 9530170) Pelletier GJ … Hackett BP (The American journal of physiology 1998) 3 4 23
  5. Association of FOXJ1 polymorphisms with systemic lupus erythematosus and rheumatoid arthritis in Korean population. (PMID: 18160851) Li CS … Chae SC (Experimental & molecular medicine 2007) 3 41

Products for FOXJ1 Gene

Sources for FOXJ1 Gene