Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	2302
Gene name	Forkhead box J1
Gene symbol	FOXJ1
Synonyms (NCBI Gene)	CILD43FKHL13HFH-4HFH4
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

Show/Hide all (4)

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

Show/Hide all (47)

miRTarBase ID	miRNA	Experiments	Reference
MIRT734892	hsa-miR-200a-3p	Luciferase reporter assayWestern blottingqRT-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

Show/Hide all (76)

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

MIM	HGNC	e!Ensembl
602291	3816	ENSG00000129654

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

Interactions

View interactions

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ciliary dyskinesia, primary, 43	Likely pathogenic; Pathogenic	rs2509838414, rs1598372830, rs1598372841, rs1598372878, rs1598372791	RCV003991109 RCV000983973 RCV000983974 RCV000983975 RCV000983976
FOXJ1-related disorder	Likely pathogenic	rs2509838550	RCV003414355

Show/Hide Text Mining Associations (35)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Colorectal Neoplasms	Associate	28209947
Dextrocardia	Associate	37158461
Double Outlet Right Ventricle	Associate	37158461
Ependymoma	Inhibit	26690880
Gastrointestinal Neoplasms	Associate	32883271
Heart Defects Congenital	Associate	37158461
Heart Septal Defects Ventricular	Associate	37158461
Heterotaxy Syndrome	Associate	37158461
Hydrocephalus	Associate	31630787, 34132502, 37158461
Idiopathic Pulmonary Fibrosis	Associate	35326483
Laryngeal Neoplasms	Associate	36397112
Lung Diseases	Associate	34132502
Lymphatic Metastasis	Stimulate	28209947
Lymphoma Non Hodgkin	Associate	36323878
Melanoma	Associate	35319783
Neoplasms	Associate	28209947, 36335125
Neoplasms Cystic Mucinous and Serous	Associate	36552773
Ovarian Neoplasms	Associate	36323878
Papilloma Choroid Plexus	Inhibit	26690880
Prostatic Neoplasms	Associate	28952222
Pulmonary Disease Chronic Obstructive	Associate	31630787, 37158461
Situs Inversus	Associate	34132502, 37158461
Status Asthmaticus	Associate	29843677, 36041223
Transposition of Great Vessels	Associate	37158461
Univentricular Heart	Associate	37158461

FOXJ1 (forkhead box J1)