Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2302
Gene name Gene Name - the full gene name approved by the HGNC.
Forkhead box J1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FOXJ1
Synonyms (NCBI Gene) Gene synonyms aliases
CILD43, FKHL13, HFH-4, HFH4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CILD43
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.1
Summary Summary of gene provided in NCBI Entrez 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 d
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1598372791 C>- Pathogenic Frameshift variant, coding sequence variant
rs1598372830 C>A Pathogenic Coding sequence variant, stop gained
rs1598372841 ->TGCT Pathogenic Frameshift variant, coding sequence variant
rs1598372878 G>A Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT734892 hsa-miR-200a-3p Luciferase reporter assay, Western blotting, qRT-PCR 32711573
MIRT1001722 hsa-miR-1207-5p CLIP-seq
MIRT1001723 hsa-miR-1245b-5p CLIP-seq
MIRT1001724 hsa-miR-151-5p CLIP-seq
MIRT1001725 hsa-miR-151b CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription regulatory region sequence-specific DNA binding IDA 9096351
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602291 3816 ENSG00000129654
Protein
UniProt ID Q92949
Protein name Forkhead box protein J1 (Forkhead-related protein FKHL13) (Hepatocyte nuclear factor 3 forkhead homolog 4) (HFH-4)
Protein 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-
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00250 Forkhead 120 206 Forkhead domain Domain
Tissue specificity TISSUE SPECIFICITY: Testis, oviduct, lung and brain cortex.
Sequence
MAESWLRLSGAGPAEEAGPEGGLEEPDALDDSLTSLQWLQEFSILNAKAPALPPGGTDPH
GYHQVPGSAAPGSPLAADPACLGQPHTPGKPTSSCTSRSAPPGLQAPPPDDVDYATNPHV
KPPYSYATLICMAMQASKATKITLSAIYKWITDNFCYFRHADPTWQNSIRHNLSLNKCFI
KVPREKDEPGKGGFWRIDPQYAERLL
SGAFKKRRLPPVHIHPAFARQAAQEPSAVPRAGP
LTVNTEAQQLLREFEEATGEAGWGAGEGRLGHKRKQPLPKRVAKVPRPPSTLLPTPEEQG
ELEPLKGNFDWEAIFDAGTLGGELGALEALELSPPLSPASHVDVDLTIHGRHIDCPATWG
PSVEQAADSLDFDETFLATSFLQHPWDESGSGCLPPEPLFEAGDATLASDLQDWASVGAF
L
Sequence length 421
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Ciliary dyskinesia Primary Ciliary Dyskinesia, Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus, Primary ciliary dyskinesia rs397515339, rs267607225, rs267607226, rs786205052, rs267607227, rs118204041, rs118204042, rs118204043, rs137853191, rs121434369, rs397515565, rs397515358, rs137852998, rs397515363, rs79833450
View all (813 more)
31630787
Kartagener syndrome Kartagener Syndrome, Polynesian Bronchiectasis rs397515339, rs267607227, rs137853191, rs397515363, rs606231164, rs79833450, rs606231165, rs387907021, rs147718607, rs397515563, rs138815960, rs587777047, rs138320978, rs587777059, rs151107532
View all (17 more)
31630787
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 27496649
Asthma Associate 32828590
Atrioventricular Septal Defect Associate 37158461
Breast Neoplasms Associate 32977823, 37596527
Bronchiectasis Associate 36929635
Central Nervous System Cysts Associate 27562488
Choroid Plexus Neoplasms Associate 26690880
Chronic Disease Associate 34132502
Ciliary Motility Disorders Associate 34132502
Ciliopathies Associate 31630787, 37158461