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FOXJ1 Gene

protein-coding   GIFtS: 54
GCID: GC17M074132

Forkhead Box J1


(Previous symbol: FKHL13)
  See FOXJ1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Forkhead Box J11 2     HFH-42 3
FKHL131 2 3 5     Fork Head Homologue 42
HFH42 3 5     Forkhead Box Protein J12
Forkhead-Related Protein FKHL132 3     Forkhead Transcription Factor HFH-42
Hepatocyte Nuclear Factor 3 Forkhead Homolog 42 3     Forkhead-Like 132

External Ids:    HGNC: 38161   Entrez Gene: 23022   Ensembl: ENSG000001296547   OMIM: 6022915   UniProtKB: Q929493   

Export aliases for FOXJ1 gene to outside databases

Previous GC identifers: GC17M073990 GC17M077124 GC17M074596 GC17M074729 GC17M071644 GC17M069561


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 allergic rhinitis, and rhinitis. GO annotations related to this gene include double-stranded DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is FOXF1.

UniProtKB/Swiss-Prot: FOXJ1_HUMAN, Q92949
Function: May play an important role in cell fate determination during lung development and in spermatogenesis (By
similarity)

Gene Wiki entry for FOXJ1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the FOXJ1 gene promoter:
         RREB-1   FOXO4   FOXO1a   NF-kappaB1   Nkx5-1   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFOXJ1 promoter sequence
   Search Chromatin IP Primers for FOXJ1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FOXJ1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q25.1   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q25.1

FOXJ1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FOXJ1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M074132:  view genomic region     (about GC identifiers)

Start:
74,132,414 bp from pter      End:
74,137,380 bp from pter
Size:
4,967 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: FOXJ1_HUMAN, Q92949 (See protein sequence)
Recommended Name: Forkhead box protein J1  
Size: 421 amino acids; 45247 Da
Developmental stage: Expressed in developing lung, kidney and central nervous system
Secondary accessions: O00630

Explore the universe of human proteins at neXtProt for FOXJ1: NX_Q92949

Explore proteomics data for FOXJ1 at MOPED


See FOXJ1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001445.2  
ENSEMBL proteins: 
 ENSP00000323880  

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antibodies-online proteins for FOXJ1 (7 products) 

 
antibodies-online peptides for FOXJ1

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antibodies-online antibodies for FOXJ1 (44 products) 

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antibodies-online kits for FOXJ1 (6 products) 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
FOX: Forkhead boxes

3 InterPro protein domains:
 IPR011991 WHTH_DNA-bd_dom
 IPR018122 TF_fork_head_CS
 IPR001766 TF_fork_head

Graphical View of Domain Structure for InterPro Entry Q92949

ProtoNet protein and cluster: Q92949

UniProtKB/Swiss-Prot: FOXJ1_HUMAN, Q92949
Similarity: Contains 1 fork-head DNA-binding domain


Find genes that share domains with FOXJ1           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: FOXJ1_HUMAN, Q92949
Function: May play an important role in cell fate determination during lung development and in spermatogenesis (By
similarity)

     Genatlas biochemistry entry for FOXJ1:
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

     Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000976transcription regulatory region sequence-specific DNA binding IDA9096351
GO:0003677DNA binding NAS9073514
GO:0003690double-stranded DNA binding IBA--
GO:0003700sequence-specific DNA binding transcription factor activity NAS9073514
GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IBA--
     
Find genes that share ontologies with FOXJ1           About GenesLikeMe


Phenotypes:
     1 GenomeRNAi human phenotype for FOXJ1:
 Decreased viability of wild-ty 

     10 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Foxj1):
 behavior/neurological  cardiovascular system  cellular  digestive/alimentary  embryogenesis 
 growth/size/body  mortality/aging  nervous system  reproductive system  respiratory system 

Find genes that share phenotypes with FOXJ1           About GenesLikeMe

Animal Models:
     MGI mouse knock-out Foxj1tm1Bph for FOXJ1

   genOway: Develop your customized and physiologically relevant rodent model for FOXJ1

miRNA
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
FOXJ1_HUMAN, Q92949: Nucleus
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus5
cytoskeleton1

Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IDA17008636
GO:0005667transcription factor complex IBA--

Find genes that share ontologies with FOXJ1           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FOXJ1
Interactions:

    Search GeneGlobe Interaction Network for FOXJ1

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

Selected Interacting proteins for FOXJ1 (Q929493 ENSP000003238804) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
InteractantInteraction Details
GeneCardExternal ID(s)
RFX2P483783, ENSP000003063354I2D: score=1 STRING: ENSP00000306335
GRB2P629933, ENSP000003390074I2D: score=1 STRING: ENSP00000339007
RFX1ENSP000002543254STRING: ENSP00000254325
RFX3ENSP000003714344STRING: ENSP00000371434
NMRAL1ENSP000002834294STRING: ENSP00000283429
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Gene Ontology (GO): Selected biological process terms (see all 31):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
GO:0001947heart looping IBA--
GO:0002508central tolerance induction ISS--
GO:0002635negative regulation of germinal center formation ISS--
GO:0002897positive regulation of central B cell tolerance induction ISS--

Find genes that share ontologies with FOXJ1           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for FOXJ1



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for FOXJ1 gene: 
NM_001454.3  

Unigene Cluster for FOXJ1:

Forkhead box J1
Hs.651204  [show with all ESTs]
Unigene Representative Sequence: NM_001454
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000322957(uc002jqx.3)
miRNA
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Primer
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OriGene qPCR primer pairs and template standards for FOXJ1
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  QuantiTect SYBR Green Assays in human, mouse, rat FOXJ1
  QuantiFast Probe-based Assays in human, mouse, rat FOXJ1

Additional mRNA sequence: 

BC046460.1 U69537.1 

2 DOTS entries:

DT.211126  DT.100652328 

Selected AceView cDNA sequences (see all 68):

AI797374 BI770297 BE466028 AI973183 NM_001454 AI673328 AW513257 BM980917 
BM998727 AI859771 CA450295 BQ687361 CK818764 AW241431 BE552417 BC046460 
AI306682 CB853581 AW293544 AW594596 AW241488 AI825573 BE044580 CN478855 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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FOXJ1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AAAGTTATTT
FOXJ1 Expression
About this image


FOXJ1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 6) fully expand
 
 Lung (Respiratory System)    fully expand to see all 10 entries
         Clara Cells Trachea
         Mature airway epithelial cells
 
 Brain (Nervous System)    fully expand to see all 5 entries
         Myelinating Oligodendrocyte Cells Forebrain White Matter
         Midbrain tegmentum
 
 Epithelial Cells
         Clara Cells Respiratory Bronchioles
 
 Neural Tube (Nervous System)    fully expand to see all 3 entries
         Mesencephalic Floor Plate
 
 Gut Tube (Gastrointestinal Tract)
         Foregut
FOXJ1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

FOXJ1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.651204

UniProtKB/Swiss-Prot: FOXJ1_HUMAN, Q92949
Tissue specificity: Testis, oviduct, lung and brain cortex

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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals and fungi.

Orthologs for FOXJ1 gene from Selected species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Foxj11 , 5 forkhead box J11, 5 88.04(n)1
92.64(a)1
  11 (81.16 cM)5
152231  NM_008240.31  NP_032266.31 
 1163307045 
chicken
(Gallus gallus)
Aves FOXJ11 forkhead box J1 71.06(n)
68.05(a)
  770009  XM_001233326.3  XP_001233327.3 
lizard
(Anolis carolinensis)
Reptilia FOXJ16
forkhead box J1
62(a)
1 ↔ 1
2(113021439-113032744)
African clawed frog
(Xenopus laevis)
Amphibia foxJ1'2 forkhead box protein 81.88(n)    AJ609391.1 
zebrafish
(Danio rerio)
Actinopterygii foxj1a1 forkhead box J1a 63.07(n)
62.78(a)
  767737  NM_001076706.2  NP_001070174.2 
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FKH2(YNL068C)4 Forkhead family transcription factor with a major role more   --   14(498289-495701) 855656  NP_014331.1 


ENSEMBL Gene Tree for FOXJ1 (if available)
TreeFam Gene Tree for FOXJ1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for FOXJ1 gene
FOXF12  FOXQ12  FOXN32  FOXF22  FOXK12  FOXN42  FOXR12  FOXH12  
FOXK22  FOXN12  FOXJ32  FOXG12  FOXJ22  FOXN22  FOXR22  

Find genes that share paralogs with FOXJ1           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for FOXJ1 (see all 177)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1409960861,2
C--75215567(+) CTGGAA/GCTGGG 1 -- ds50010--------
rs733455651,2
C,F--75215701(+) GCACAC/GTTAGC 1 -- ds50014Minor allele frequency- G:0.10WA CSA 124
rs1462734021,2
--75215731(+) TGGGGA/CCTGAG 1 -- ds50010--------
rs1181815281,2
C,F--75215839(+) CAACCG/AAGAGC 1 -- ds50011Minor allele frequency- A:0.07EA 120
rs1163132921,2
F--75215869(+) CCCCGG/AGGATG 1 -- ds50011Minor allele frequency- A:0.01WA 118
rs1885345601,2
--75215926(+) CCCCCA/GCATCT 1 -- ds50010--------
rs1478829231,2
--75215956(+) CTCCAA/GCAAAG 1 -- ds50010--------
rs1925945641,2
--75216106(+) CCCCAC/TGGGGC 1 -- ut310--------
rs1847424281,2
--75216109(+) CACGGA/GGCAGG 1 -- ut310--------
rs1868264061,2
--75216122(+) GGTGGA/GTGTGG 1 -- ut310--------

HapMap Linkage Disequilibrium report for FOXJ1 (74132414 - 74137380 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for FOXJ1:    About this table    
Variant IDTypeSubtypePubMed ID
nsv833546CNV Loss17160897
nsv908824CNV Loss21882294
dgv3270n71CNV Loss21882294

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing FOXJ1
DNA2.0 Custom Variant and Variant Library Synthesis for FOXJ1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 602291    OMIM disorders: --

UniProtKB/Swiss-Prot: FOXJ1_HUMAN, Q92949
  • Allergic rhinitis (ALRH) [MIM:607154]: A common disease with complex inheritance characterized by mucosal
    inflammation caused by allergen exposure. Note=Disease susceptibility may be associated with variations affecting
    the gene represented in this entry

  • 3 diseases for FOXJ1:    
    About MalaCards
    allergic rhinitis    rhinitis    systemic lupus erythematosus

    2 diseases from the University of Copenhagen DISEASES database for FOXJ1:
    Primary ciliary dyskinesia     Situs inversus

    Find genes that share disorders with FOXJ1           About GenesLikeMe

    Genetic Association Database (GAD): FOXJ1
    Human Genome Epidemiology (HuGE) Navigator: FOXJ1 (2 documents)

    Export disorders for FOXJ1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FOXJ1 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with FOXJ1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of single nucleotide polymorphisms in FOXJ1 and their association with allergic rhinitis. (PubMed id 16518568)1, 2, 3, 4 Li C.-S.... Chung H.-T. (J. Hum. Genet. 2006)
    2. The human hepatocyte nuclear factor 3/fork head gene FKHL13: genomic structure and pattern of expression. (PubMed id 9073514)1, 2, 3, 9 Murphy D.B....Thies U. (Genomics 1997)
    3. A human forkhead/winged-helix transcription factor expressed in developing pulmonary and renal epithelium. (PubMed id 9530170)1, 2, 9 Pelletier G.J.... Hackett B.P. (Am. J. Physiol. 1998)
    4. Association of FOXJ1 polymorphisms with systemic lupus erythematosus and rheumatoid arthritis in Korean population. (PubMed id 18160851)1, 4 Li C.S....Chae S.C. (amp 2007)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. The winged helix transcription factor HFH-4 is expressed during choroid plexus epithelial development in the mouse embryo. (PubMed id 9096351)1, 9 Lim L....Costa R.H. (Proc. Natl. Acad. Sci. U.S.A. 1997)
    7. No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD). (PubMed id 11060460)1, 9 Maiti A.K....Antonarakis S.E. (Cytogenet. Cell Genet. 2000)
    8. Expression of FOXJ1 in hepatocellular carcinoma: correlation with patients' prognosis and tumor cell proliferation. (PubMed id 22488567)1 Chen H.W....Wang H.M. (Mol. Carcinog. 2013)
    9. RFX3 modulation of FOXJ1 regulation of cilia genes in the human airway epithelium. (PubMed id 23822649)1 Didon L....Crystal R.G. (Respir. Res. 2013)
    10. Rer1p maintains ciliary length and signaling by regulating I^-secretase activity and Foxj1a levels. (PubMed id 23479743)1 Jurisch-Yaksi N....Annaert W. (J. Cell Biol. 2013)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2302 HGNC: 3816 AceView: FOXJ1 Ensembl:ENSG00000129654 euGenes: HUgn2302
    ECgene: FOXJ1 H-InvDB: FOXJ1

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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    PharmGKB entry for FOXJ1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FOXJ1 Genetics and Cytogenetics in Oncology and Haematology

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