FJX1

Summary

FJX1 (four-jointed box kinase 1, HGNC:17166) is a protein-coding gene on chromosome 11p13, encoding Four-jointed box protein 1 (Q86VR8). Acts as an inhibitor of dendrite extension and branching.

The protein encoded by this gene is the human ortholog of mouse and Drosophila four-jointed gene product. The Drosophila protein is important for growth and differentiation of legs and wings, and for proper development of the eyes. The exact function of this gene in humans is not known.

Source: NCBI Gene 24147 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 67 total
• MANE Select transcript: NM_014344

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17166
Approved symbol	FJX1
Name	four-jointed box kinase 1
Location	11p13
Locus type	gene with protein product
Status	Approved
Aliases	FLJ22416, FLJ25593
Ensembl gene	ENSG00000179431
Ensembl biotype	protein_coding
OMIM	612206
Entrez	24147

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000317811, ENST00000532914

RefSeq mRNA: 1 — MANE Select: NM_014344 NM_014344

CCDS: CCDS44570

Canonical transcript exons

ENST00000317811 — 1 exons

Exon	Start	End
ENSE00001257528	35618460	35620865

Expression profiles

Bgee: expression breadth ubiquitous, 213 present calls, max score 96.55.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.5672 / max 177.1018, expressed in 1458 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
113855	4.9211	985
113853	3.8444	1264
113854	2.8017	910

Top tissues by expression

278 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	96.55	gold quality
ganglionic eminence	UBERON:0004023	93.13	gold quality
cortical plate	UBERON:0005343	88.34	gold quality
embryo	UBERON:0000922	86.71	gold quality
Brodmann (1909) area 23	UBERON:0013554	86.08	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.11	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.84	gold quality
middle temporal gyrus	UBERON:0002771	84.80	gold quality
gingival epithelium	UBERON:0001949	83.19	silver quality
anterior cingulate cortex	UBERON:0009835	82.19	gold quality
cingulate cortex	UBERON:0003027	82.12	gold quality
stromal cell of endometrium	CL:0002255	81.90	gold quality
nucleus accumbens	UBERON:0001882	81.52	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	81.10	gold quality
cartilage tissue	UBERON:0002418	81.01	gold quality
neocortex	UBERON:0001950	80.97	gold quality
prefrontal cortex	UBERON:0000451	80.95	gold quality
right frontal lobe	UBERON:0002810	80.77	gold quality
tibia	UBERON:0000979	80.69	gold quality
cerebral cortex	UBERON:0000956	80.63	gold quality
frontal cortex	UBERON:0001870	80.17	gold quality
amygdala	UBERON:0001876	79.99	gold quality
primary visual cortex	UBERON:0002436	79.98	gold quality
gingiva	UBERON:0001828	79.94	silver quality
telencephalon	UBERON:0001893	79.94	gold quality
Ammon’s horn	UBERON:0001954	79.77	gold quality
Brodmann (1909) area 9	UBERON:0013540	79.55	gold quality
caudate nucleus	UBERON:0001873	79.15	gold quality
putamen	UBERON:0001874	78.93	gold quality
temporal lobe	UBERON:0001871	78.82	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.64

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): RBPJ

miRNA regulators (miRDB)

95 targeting FJX1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-4671-3P	99.88	72.46	1045
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540

Literature-anchored findings (GeneRIF, showing 7)

• FJX1 does not influence the levels of FAT1 ectodomain phosphorylation. (PMID:25150169)
• The results of our Western blot analysis reveal a significant positive correlation between FJX1 and HIF1alpha proteins in endometrium of women with and without endometriosis. (PMID:28673206)
• FJX1 transcript and protein level is upregulated in nasopharyngeal carcinoma tissue samples. FJX1 promotes cell proliferation, anchorage-dependent growth, and cellular invasion in vitro. (PMID:31236144)
• MicroRNA-1249 targets four-jointed box kinase 1 and reduces cell proliferation, migration and invasion of colon adenocarcinoma. (PMID:32159255)
• FOXD3-AS1 Contributes to the Progression of Melanoma Via miR-127-3p/FJX1 Axis. (PMID:32354225)
• MiR-532-3p suppresses cell proliferation, migration and invasion of colon adenocarcinoma via targeting FJX1. (PMID:35278814)
• [FJX1 overexpression is associated with poor prognosis and promotes gastric cancer proliferation via the PI3K/AKT signaling pathway]. (PMID:37439170)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	fjx1	ENSDARG00000035873
mus_musculus	Fjx1	ENSMUSG00000075012
rattus_norvegicus	Fjx1	ENSRNOG00000005347
drosophila_melanogaster	fj	FBGN0000658

Protein

Protein identifiers

Four-jointed box protein 1 — Q86VR8 (reviewed: Q86VR8)

Alternative names: Four-jointed protein homolog

All UniProt accessions (1): Q86VR8

UniProt curated annotations — full annotation on UniProt →

Function. Acts as an inhibitor of dendrite extension and branching.

Subcellular location. Secreted.

Post-translational modifications. Glycosylated. Undergoes proteolytic cleavage.

Similarity. Belongs to the FJX1/FJ family.

RefSeq proteins (1): NP_055159* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR024868	FJX1/FJ	Family

UniProt features (9 total): region of interest 2, sequence variant 2, signal peptide 1, chain 1, compositionally biased region 1, glycosylation site 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86VR8-F1	79.70	0.67

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (1): 248

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 173 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, LEE_NEURAL_CREST_STEM_CELL_DN, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, TGCACTT_MIR519C_MIR519B_MIR519A, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, CERVERA_SDHB_TARGETS_1_DN, GOBP_NEURAL_RETINA_DEVELOPMENT, GOBP_CELL_CELL_SIGNALING, STARK_HYPPOCAMPUS_22Q11_DELETION_UP, GOBP_ANIMAL_ORGAN_MORPHOGENESIS

GO Biological Process (2): cell-cell signaling (GO:0007267), retina layer formation (GO:0010842)

GO Molecular Function (0):

GO Cellular Component (2): obsolete extracellular space (GO:0005615), extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell communication	1
signaling	1
neural retina development	1
anatomical structure formation involved in morphogenesis	1
retina morphogenesis in camera-type eye	1
cellular anatomical structure	1

Protein interactions and networks

STRING

608 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FJX1	COMMD9	Q9P000	920
FJX1	FAT4	Q6V0I7	909
FJX1	TRIM44	Q96DX7	861
FJX1	FAT1	Q14517	763
FJX1	VANGL2	Q9ULK5	760
FJX1	GASK1A	Q9UFP1	683
FJX1	FAT3	Q8TDW7	669
FJX1	FAT2	Q9NYQ8	646
FJX1	FAM20B	O75063	645
FJX1	USP39	Q53GS9	636
FJX1	FAM20A	Q96MK3	621
FJX1	DCHS1	Q96JQ0	582
FJX1	TRAF6	Q9Y4K3	542
FJX1	DCHS2	Q6V1P9	532
FJX1	CDH17	Q12864	484

IntAct

5 interactions, top by confidence:

A	B	Type	Score
FJX1	PIGN	psi-mi:“MI:0915”(physical association)	0.370
DKKL1	FJX1	psi-mi:“MI:0915”(physical association)	0.370
CCL3	KRBA1	psi-mi:“MI:0914”(association)	0.350
TMEM59	GPR89A	psi-mi:“MI:0914”(association)	0.350

BioGRID (5): FJX1 (Affinity Capture-MS), FJX1 (Affinity Capture-MS), FJX1 (Affinity Capture-RNA), FJX1 (Two-hybrid), PIGN (Two-hybrid)

ESM2 similar proteins: A5PJM7, A6QL63, A7YY62, A7Z026, B2RYF1, E9PV86, O35393, O54951, O70141, O75864, P42229, P42230, P42231, P51692, Q15768, Q29RM4, Q3SZB3, Q3U2I3, Q3UFK8, Q5R5M3, Q5R8V2, Q5U2R3, Q5ZJA4, Q5ZJB7, Q66H54, Q6DN14, Q6GQW0, Q6IA17, Q6ZN54, Q6ZUT9, Q7Z6G3, Q7Z6J6, Q86VR8, Q8BKR5, Q8N5X7, Q8N612, Q8NBT3, Q8TBP0, Q8TF64, Q8WXS5

Diamond homologs: P54360, Q5ZEQ8, Q86VR8, Q8BQB4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

67 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	67
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

340 predictions. Top by Δscore:

Variant	Effect	Δscore
11:35619911:GCACT:G	donor_gain	0.9900
11:35619916:G:GG	donor_gain	0.9800
11:35619926:G:GG	donor_gain	0.9500
11:35619914:CT:C	donor_gain	0.9400
11:35619921:GC:G	donor_gain	0.8700
11:35619922:CC:C	donor_gain	0.8700
11:35620128:A:G	acceptor_gain	0.8100
11:35619921:GCCAA:G	donor_gain	0.7900
11:35619959:G:GT	donor_gain	0.7900
11:35620106:A:AG	acceptor_gain	0.7800
11:35620194:G:GT	donor_gain	0.7800
11:35620127:A:AG	acceptor_gain	0.7500
11:35620374:A:AG	acceptor_gain	0.7500
11:35620375:G:GG	acceptor_gain	0.7500
11:35620375:GA:G	acceptor_gain	0.7400
11:35620449:A:AG	acceptor_gain	0.7200
11:35620450:G:GG	acceptor_gain	0.7200
11:35619943:GGAC:G	donor_gain	0.7100
11:35620113:C:CA	acceptor_gain	0.6900
11:35620375:GAGC:G	acceptor_gain	0.6800
11:35619912:CACT:C	donor_gain	0.6700
11:35619914:CTGTA:C	donor_loss	0.6500
11:35619915:TGTAA:T	donor_loss	0.6500
11:35619916:G:T	donor_loss	0.6500
11:35619917:T:TC	donor_loss	0.6500
11:35620113:C:G	acceptor_gain	0.6500
11:35619918:A:AT	donor_loss	0.6400
11:35619920:G:C	donor_loss	0.6400
11:35620427:T:TA	acceptor_gain	0.6400
11:35619913:ACT:A	donor_gain	0.6300

AlphaMissense

2744 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:35619501:T:A	W289R	0.999
11:35619501:T:C	W289R	0.999
11:35619523:A:C	D296A	0.999
11:35619523:A:T	D296V	0.999
11:35619539:C:A	N301K	0.999
11:35619539:C:G	N301K	0.999
11:35619544:A:C	D303A	0.999
11:35619544:A:T	D303V	0.999
11:35619555:A:C	S307R	0.999
11:35619557:C:A	S307R	0.999
11:35619557:C:G	S307R	0.999
11:35619578:G:C	W314C	0.999
11:35619578:G:T	W314C	0.999
11:35619649:A:T	D338V	0.999
11:35619695:G:C	W353C	0.999
11:35619695:G:T	W353C	0.999
11:35619357:A:C	S241R	0.998
11:35619359:C:A	S241R	0.998
11:35619359:C:G	S241R	0.998
11:35619503:G:C	W289C	0.998
11:35619503:G:T	W289C	0.998
11:35619522:G:C	D296H	0.998
11:35619540:T:C	F302L	0.998
11:35619542:C:A	F302L	0.998
11:35619542:C:G	F302L	0.998
11:35619544:A:G	D303G	0.998
11:35619567:A:C	S311R	0.998
11:35619569:C:A	S311R	0.998
11:35619569:C:G	S311R	0.998
11:35619611:C:A	N325K	0.998

dbSNP variants (sampled 300 via entrez): RS1000120545 (11:35618812 C>A), RS1000472809 (11:35618960 G>A,T), RS1000970506 (11:35618323 C>CG), RS1001022845 (11:35618151 C>T), RS1001233177 (11:35618747 C>A,T), RS1001285803 (11:35618561 C>T), RS1002245872 (11:35617579 C>A,T), RS1002257150 (11:35617683 T>A,G), RS1002578718 (11:35617865 C>G), RS1002910442 (11:35621082 G>A), RS1004149436 (11:35617162 T>C), RS1006835310 (11:35618992 A>C), RS1007452087 (11:35619341 C>G,T), RS1007834960 (11:35618173 G>A), RS1007982332 (11:35620164 G>A,C,T)

Disease associations

OMIM: gene MIM:612206 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST006444_9	Bone mineral density (hip)	2.000000e-06
GCST006445_4	Femoral neck bone mineral density	3.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007702	hip bone mineral density
EFO:0007785	femoral neck bone mineral density

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

75 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, decreases methylation, increases expression	6
trichostatin A	affects cotreatment, decreases expression	3
(+)-JQ1 compound	decreases expression	3
Estradiol	affects cotreatment, decreases expression, increases expression	3
Progesterone	affects cotreatment, decreases expression	3
Aflatoxin B1	decreases methylation, increases expression	3
bisphenol A	affects cotreatment, decreases expression	2
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	2
chloropicrin	decreases expression	2
entinostat	decreases expression, affects cotreatment	2
Phenylmercuric Acetate	decreases expression, affects cotreatment	2
Tobacco Smoke Pollution	decreases expression	2
Tretinoin	decreases expression	2
Tunicamycin	decreases expression	2
Cyclosporine	decreases expression, increases expression	2
Asbestos, Crocidolite	increases expression	2
Cadmium Chloride	decreases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
Particulate Matter	decreases expression, increases abundance	2
bisphenol F	affects cotreatment, decreases expression	1
TL8-506	affects cotreatment, increases expression	1
cobaltous chloride	decreases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
ferrous chloride	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases reaction, increases expression	1
mercuric bromide	decreases expression	1
15-acetyldeoxynivalenol	increases expression	1
evodiamine	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.