FOXJ1 (forkhead box J1)

Gene

• Entrez ID: 2302
• Gene name: Forkhead box J1
• Gene symbol: FOXJ1
• Synonyms (NCBI Gene): CILD43, FKHL13, HFH-4, HFH4
• Chromosome: 17
• Chromosome location: 17q25.1
• Summary: 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 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

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
MIRT1001726	hsa-miR-2861	CLIP-seq
MIRT1001727	hsa-miR-3142	CLIP-seq
MIRT1001728	hsa-miR-3151	CLIP-seq
MIRT1001729	hsa-miR-3176	CLIP-seq
MIRT1001730	hsa-miR-3667-5p	CLIP-seq
MIRT1001731	hsa-miR-3918	CLIP-seq
MIRT1001732	hsa-miR-3922-3p	CLIP-seq
MIRT1001733	hsa-miR-4257	CLIP-seq
MIRT1001734	hsa-miR-4512	CLIP-seq
MIRT1001735	hsa-miR-4742-5p	CLIP-seq
MIRT1001736	hsa-miR-4757-5p	CLIP-seq
MIRT1001737	hsa-miR-4758-3p	CLIP-seq
MIRT1001738	hsa-miR-4763-3p	CLIP-seq
MIRT1001739	hsa-miR-486-3p	CLIP-seq
MIRT1001740	hsa-miR-520a-5p	CLIP-seq
MIRT1001741	hsa-miR-525-5p	CLIP-seq
MIRT1996840	hsa-miR-1343	CLIP-seq
MIRT1996841	hsa-miR-1913	CLIP-seq
MIRT1996842	hsa-miR-296-5p	CLIP-seq
MIRT1996843	hsa-miR-3157-5p	CLIP-seq
MIRT1996844	hsa-miR-3189-5p	CLIP-seq
MIRT1996845	hsa-miR-324-3p	CLIP-seq
MIRT1996846	hsa-miR-378g	CLIP-seq
MIRT1996847	hsa-miR-4655-3p	CLIP-seq
MIRT2230763	hsa-miR-4283	CLIP-seq
MIRT2230764	hsa-miR-4489	CLIP-seq
MIRT2230765	hsa-miR-4492	CLIP-seq
MIRT2230766	hsa-miR-4498	CLIP-seq
MIRT2230767	hsa-miR-4505	CLIP-seq
MIRT2230768	hsa-miR-4667-5p	CLIP-seq
MIRT2230769	hsa-miR-4700-5p	CLIP-seq
MIRT2230770	hsa-miR-4727-5p	CLIP-seq
MIRT2230771	hsa-miR-4755-3p	CLIP-seq
MIRT2230772	hsa-miR-762	CLIP-seq
MIRT2449851	hsa-miR-10a	CLIP-seq
MIRT2449852	hsa-miR-10b	CLIP-seq
MIRT2449853	hsa-miR-1227	CLIP-seq
MIRT2449854	hsa-miR-1914	CLIP-seq
MIRT1996844	hsa-miR-3189-5p	CLIP-seq
MIRT2449855	hsa-miR-3620	CLIP-seq
MIRT2449856	hsa-miR-4715-3p	CLIP-seq
MIRT1001737	hsa-miR-4758-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	9096351
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
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	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0002508	Process	Central tolerance induction	IEA
GO:0002508	Process	Central tolerance induction	ISS
GO:0002635	Process	Negative regulation of germinal center formation	IEA
GO:0002635	Process	Negative regulation of germinal center formation	ISS
GO:0002897	Process	Positive regulation of central B cell tolerance induction	IEA
GO:0002897	Process	Positive regulation of central B cell tolerance induction	ISS
GO:0002924	Process	Negative regulation of humoral immune response mediated by circulating immunoglobulin	IEA
GO:0002924	Process	Negative regulation of humoral immune response mediated by circulating immunoglobulin	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	NAS	9073514
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	NAS	9073514
GO:0005515	Function	Protein binding	IPI	25609649, 28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	17008636
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006959	Process	Humoral immune response	IEA
GO:0006959	Process	Humoral immune response	ISS
GO:0007283	Process	Spermatogenesis	NAS	9073514
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007368	Process	Determination of left/right symmetry	IMP	31630787
GO:0007389	Process	Pattern specification process	ISS
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	ISS	9073514
GO:0007420	Process	Brain development	NAS	9096351
GO:0007507	Process	Heart development	IEA
GO:0008104	Process	Intracellular protein localization	IMP	31630787
GO:0030030	Process	Cell projection organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	ISS
GO:0030856	Process	Regulation of epithelial cell differentiation	IEA
GO:0032053	Process	Ciliary basal body organization	IMP	31630787
GO:0032715	Process	Negative regulation of interleukin-6 production	IEA
GO:0032715	Process	Negative regulation of interleukin-6 production	ISS
GO:0033085	Process	Negative regulation of T cell differentiation in thymus	IEA
GO:0033085	Process	Negative regulation of T cell differentiation in thymus	ISS
GO:0035082	Process	Axoneme assembly	IMP	31630787
GO:0035089	Process	Establishment of apical/basal cell polarity	IEA
GO:0035089	Process	Establishment of apical/basal cell polarity	ISS
GO:0035502	Process	Metanephric part of ureteric bud development	IEP	9530170
GO:0042130	Process	Negative regulation of T cell proliferation	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0044458	Process	Motile cilium assembly	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	9096351
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048469	Process	Cell maturation	IEA
GO:0050869	Process	Negative regulation of B cell activation	IEA
GO:0050869	Process	Negative regulation of B cell activation	ISS
GO:0050900	Process	Leukocyte migration	IEA
GO:0050900	Process	Leukocyte migration	ISS
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	31630787
GO:0060271	Process	Cilium assembly	ISS
GO:0060428	Process	Lung epithelium development	IEP	9530170
GO:0060428	Process	Lung epithelium development	NAS	9096351
GO:0060429	Process	Epithelium development	IEA
GO:0060429	Process	Epithelium development	ISS	9073514
GO:0060972	Process	Left/right pattern formation	IEA
GO:0072016	Process	Glomerular parietal epithelial cell development	IEP	9530170
GO:1901223	Process	Negative regulation of non-canonical NF-kappaB signal transduction	IEA
GO:1901223	Process	Negative regulation of non-canonical NF-kappaB signal transduction	ISS
GO:1901248	Process	Positive regulation of lung ciliated cell differentiation	IDA	20539013

Other IDs

• MIM: 602291
• HGNC: 3816
• e!Ensembl: 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
  KVPREKDEPGKGGFWRIDPQYAERLLSGAFKKRRLPPVHIHPAFARQAAQEPSAVPRAGP
  LTVNTEAQQLLREFEEATGEAGWGAGEGRLGHKRKQPLPKRVAKVPRPPSTLLPTPEEQG
  ELEPLKGNFDWEAIFDAGTLGGELGALEALELSPPLSPASHVDVDLTIHGRHIDCPATWG
  PSVEQAADSLDFDETFLATSFLQHPWDESGSGCLPPEPLFEAGDATLASDLQDWASVGAF
  L

• Sequence length: 421

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Ciliary dyskinesia, primary, 43	Likely pathogenic; Pathogenic	rs2509838414, rs1598372830, rs1598372841, rs1598372878, rs1598372791	RCV003991109 RCV000983973 RCV000983974 RCV000983975 RCV000983976	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FOXJ1-related disorder	Likely pathogenic	rs2509838550	RCV003414355	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CILIARY MOTILITY DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CILIARY DYSKINESIA	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
AL-RAQAD SYNDROME	AL-Raqad Syndrome	BEFREE	18723525		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	16518568, 29635245, 30459817		★☆☆☆☆ Found in Text Mining only
Anaplastic Ependymoma	Anaplastic Ependymoma	BEFREE	26690880		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	30459817		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	32828590	Associate	★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	Pubtator	37158461	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	14963332, 16339515, 16518568, 18160851		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	29129693		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18836996, 22488567		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32977823, 37596527	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	BEFREE	11060460		★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	Pubtator	36929635	Associate	★☆☆☆☆ Found in Text Mining only
Bronchitis	Bronchitis	BEFREE	11733356		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	26690880, 29434839		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	29129693, 29434839		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29379049		★☆☆☆☆ Found in Text Mining only
Choroid Plexus Papilloma	Choroid Plexus Papilloma	BEFREE	26690880		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	34132502	Associate	★☆☆☆☆ Found in Text Mining only
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	ORPHANET_DG	31630787		★☆☆☆☆ Found in Text Mining only
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	34132502	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	BEFREE	30881373, 31630787		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	31630787, 37158461	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28209947		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28209947		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28209947	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	17637798		★☆☆☆☆ Found in Text Mining only
Dextrocardia	Dextrocardia	Pubtator	37158461	Associate	★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double outlet right ventricle	Pubtator	37158461	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	26690880		★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	15912575		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	32883271	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	37158461	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	37158461	Associate	★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxy syndrome	Pubtator	37158461	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	29695808, 31630787		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	31630787, 34132502, 37158461	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	35326483	Associate	★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	BEFREE	11060460		★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	ORPHANET_DG	31630787		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	36397112	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	31062413		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22488567		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	34132502	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	18160851		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	28209947	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	16339515		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18836996, 22488567		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28952222		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24809300, 30214548		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	29129693		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29129693		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28209947		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	18836996		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35319783	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	30459817		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22488567, 26690880, 28209947, 28719464, 29129693, 29434839, 30214548		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36323878	Associate	★☆☆☆☆ Found in Text Mining only
Papilloma Choroid Plexus	Choroid plexus papilloma	Pubtator	26690880	Inhibit	★☆☆☆☆ Found in Text Mining only
Pineal Gland Neoplasm	Pineal Gland Neoplasm	BEFREE	28719464		★☆☆☆☆ Found in Text Mining only
Polynesian Bronchiectasis	Kartagener syndrome	ORPHANET_DG	31630787		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	11060460, 30881373		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Ciliary Dyskinesia	Ciliary dyskinesia	ORPHANET_DG	31630787		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary ciliary dyskinesia	Ciliary dyskinesia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	BEFREE	28952222		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28952222	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	31630787, 37158461	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	18160851		★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	LHGDN	16518568		★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs Inversus	BEFREE	11060460		★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs inversus	Pubtator	34132502, 37158461	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24809300, 30214548		★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition of the great arteries	Pubtator	37158461	Associate	★☆☆☆☆ Found in Text Mining only