FOXJ3
gene geneOn this page
Also known as KIAA1041
Summary
FOXJ3 (forkhead box J3, HGNC:29178) is a protein-coding gene on chromosome 1p34.2, encoding Forkhead box protein J3 (Q9UPW0). Transcriptional activator of MEF2C involved in the regulation of adult muscle fiber type identity and skeletal muscle regeneration.
Enables DNA-binding transcription activator activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus.
Source: NCBI Gene 22887 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 110 total
- MANE Select transcript:
NM_014947
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29178 |
| Approved symbol | FOXJ3 |
| Name | forkhead box J3 |
| Location | 1p34.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1041 |
| Ensembl gene | ENSG00000198815 |
| Ensembl biotype | protein_coding |
| OMIM | 616035 |
| Entrez | 22887 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 14 protein_coding
ENST00000361346, ENST00000361776, ENST00000372571, ENST00000372572, ENST00000372573, ENST00000422278, ENST00000445886, ENST00000454417, ENST00000545068, ENST00000861681, ENST00000861682, ENST00000940310, ENST00000940311, ENST00000959443
RefSeq mRNA: 4 — MANE Select: NM_014947
NM_001198850, NM_001198851, NM_001198852, NM_014947
CCDS: CCDS30689, CCDS55594
Canonical transcript exons
ENST00000361346 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001418309 | 42335059 | 42335235 |
| ENSE00003842693 | 42176548 | 42179825 |
| ENSE00003889347 | 42265115 | 42265189 |
| ENSE00003890108 | 42311050 | 42311110 |
| ENSE00003890964 | 42278348 | 42278672 |
| ENSE00003891575 | 42227883 | 42227966 |
| ENSE00003891651 | 42191303 | 42191719 |
| ENSE00003891838 | 42205762 | 42205863 |
| ENSE00003892715 | 42194890 | 42195064 |
| ENSE00003892801 | 42189303 | 42189404 |
| ENSE00003894403 | 42188737 | 42188928 |
| ENSE00003895014 | 42181917 | 42182024 |
| ENSE00003895355 | 42199102 | 42199230 |
Expression profiles
Bgee: expression breadth ubiquitous, 294 present calls, max score 97.73.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.3955 / max 449.1848, expressed in 1820 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 11986 | 33.0021 | 1820 |
| 11985 | 1.8272 | 986 |
| 11984 | 1.1654 | 695 |
| 11983 | 0.5272 | 310 |
| 11988 | 0.5159 | 214 |
| 11981 | 0.3577 | 160 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| middle temporal gyrus | UBERON:0002771 | 97.73 | gold quality |
| endothelial cell | CL:0000115 | 97.32 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 97.15 | gold quality |
| tibia | UBERON:0000979 | 96.42 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 96.19 | gold quality |
| visceral pleura | UBERON:0002401 | 95.86 | gold quality |
| parietal pleura | UBERON:0002400 | 95.81 | gold quality |
| cerebellar vermis | UBERON:0004720 | 95.81 | gold quality |
| pleura | UBERON:0000977 | 95.60 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 95.07 | gold quality |
| deltoid | UBERON:0001476 | 94.89 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 94.80 | silver quality |
| colonic epithelium | UBERON:0000397 | 94.79 | gold quality |
| vastus lateralis | UBERON:0001379 | 94.61 | gold quality |
| paraflocculus | UBERON:0005351 | 94.61 | gold quality |
| quadriceps femoris | UBERON:0001377 | 94.60 | gold quality |
| squamous epithelium | UBERON:0006914 | 94.49 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 94.43 | gold quality |
| cartilage tissue | UBERON:0002418 | 94.40 | gold quality |
| gingival epithelium | UBERON:0001949 | 94.33 | gold quality |
| skin of hip | UBERON:0001554 | 94.26 | gold quality |
| secondary oocyte | CL:0000655 | 94.06 | gold quality |
| gluteal muscle | UBERON:0002000 | 94.05 | gold quality |
| synovial joint | UBERON:0002217 | 94.05 | gold quality |
| triceps brachii | UBERON:0001509 | 94.02 | gold quality |
| parotid gland | UBERON:0001831 | 94.01 | gold quality |
| hair follicle | UBERON:0002073 | 93.97 | gold quality |
| penis | UBERON:0000989 | 93.83 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 93.74 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 93.69 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.40 |
| E-MTAB-6678 | yes | 6.38 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets.
| Target | Regulation |
|---|---|
| E2F1 | Activation |
| MEF2C | Activation |
miRNA regulators (miRDB)
204 targeting FOXJ3, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
Literature-anchored findings (GeneRIF, showing 8)
- FOXJ3 is identified as a novel cell cycle reguulator that may regulate a network of zinc finger proteins. (PMID:22740631)
- FOXJ3 may be associated with the development of rheumatoid arthritis. (PMID:23933633)
- This study demonstrated that miR-517a-3p promoted lung cancer cell proliferation and invasion by targeting of FOXJ3 expression (PMID:24846831)
- FOXO3-dependent gene regulation is generally mediated not through uniquely bound regions but through regions occupied by both FOXK2 and FOXO3 where both factors play a regulatory role. (PMID:26578569)
- The found the stimulation effects of miR-425-5p on prostate cancer (PCa) cell behaviors were fulfilled through directly regulating the expression of FOXJ3, which validated FOXJ3 as a functional target of miR-425-5p in PCa. (PMID:30720162)
- Integrin Subunit Alpha 5 (ITGA5) Gene Circular RNA Sponges microRNA-107 in Colorectal Carcinoma Cells and Tissues and Regulates the Expression of the Forkhead Box J3 (FOXJ3) Gene. (PMID:32305992)
- Circular RNA circSLC8A1 inhibits the proliferation and invasion of non-small cell lung cancer cells through targeting the miR-106b-5p /FOXJ3 axis. (PMID:34724864)
- FOXJ3 Regulates Cell Proliferation and Motility Through Modulating Snail Expression in Breast Cancer Cells. (PMID:37351974)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Foxj3 | ENSMUSG00000032998 |
| rattus_norvegicus | Foxj3 | ENSRNOG00000061851 |
Paralogs (41): FOXP3 (ENSG00000049768), FOXC1 (ENSG00000054598), FOXJ2 (ENSG00000065970), FOXF1 (ENSG00000103241), FOXN1 (ENSG00000109101), FOXM1 (ENSG00000111206), FOXP1 (ENSG00000114861), FOXO3 (ENSG00000118689), FOXA2 (ENSG00000125798), FOXA1 (ENSG00000129514), FOXJ1 (ENSG00000129654), FOXK2 (ENSG00000141568), FOXO1 (ENSG00000150907), FOXH1 (ENSG00000160973), FOXQ1 (ENSG00000164379), FOXK1 (ENSG00000164916), FOXD4 (ENSG00000170122), FOXA3 (ENSG00000170608), FOXB1 (ENSG00000171956), FOXR1 (ENSG00000176302), FOXL1 (ENSG00000176678), FOXC2 (ENSG00000176692), FOXE1 (ENSG00000178919), FOXS1 (ENSG00000179772), FOXL2 (ENSG00000183770), FOXO4 (ENSG00000184481), FOXD4L1 (ENSG00000184492), FOXD4L4 (ENSG00000184659), FOXD2 (ENSG00000186564), FOXI2 (ENSG00000186766), FOXE3 (ENSG00000186790), FOXD3 (ENSG00000187140), FOXD4L3 (ENSG00000187559), FOXR2 (ENSG00000189299), FOXO6 (ENSG00000204060), FOXB2 (ENSG00000204612), FOXD4L5 (ENSG00000204779), FOXI3 (ENSG00000214336), FOXL3 (ENSG00000248767), FOXD1 (ENSG00000251493)
Protein
Protein identifiers
Forkhead box protein J3 — Q9UPW0 (reviewed: Q9UPW0)
All UniProt accessions (5): C9JVP0, C9JXI1, Q9UPW0, F6VXT0, H7C1Y6
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional activator of MEF2C involved in the regulation of adult muscle fiber type identity and skeletal muscle regeneration. Plays an important role in spermatogenesis. Required for the survival of spermatogonia and participates in spermatocyte meiosis.
Subcellular location. Nucleus.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UPW0-1 | 1 | yes |
| Q9UPW0-2 | 2 |
RefSeq proteins (4): NP_001185779, NP_001185780, NP_001185781, NP_055762* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001766 | Fork_head_dom | Domain |
| IPR018122 | TF_fork_head_CS_1 | Conserved_site |
| IPR030456 | TF_fork_head_CS_2 | Conserved_site |
| IPR036388 | WH-like_DNA-bd_sf | Homologous_superfamily |
| IPR036390 | WH_DNA-bd_sf | Homologous_superfamily |
| IPR045912 | FOXJ2/3-like | Family |
Pfam: PF00250
UniProt features (18 total): compositionally biased region 5, modified residue 4, region of interest 3, sequence variant 2, chain 1, DNA-binding region 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UPW0-F1 | 54.24 | 0.11 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (4): 223, 295, 489, 606
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 271 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, RNGTGGGC_UNKNOWN, LOPEZ_MESOTHELIOMA_SURVIVAL_DN, HNF3ALPHA_Q6, TGCACTT_MIR519C_MIR519B_MIR519A, MORF_UBE2I, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GENTILE_RESPONSE_CLUSTER_D3, GOBP_MALE_GAMETE_GENERATION, AATGGAG_MIR136, MORF_TERF1, MORF_RAF1, GOBP_ORGANELLE_FISSION, MYCMAX_01
GO Biological Process (7): regulation of transcription by RNA polymerase II (GO:0006357), male meiosis I (GO:0007141), spermatogenesis (GO:0007283), cell differentiation (GO:0030154), positive regulation of transcription by RNA polymerase II (GO:0045944), regulation of DNA-templated transcription (GO:0006355), meiotic cell cycle (GO:0051321)
GO Molecular Function (8): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), sequence-specific DNA binding (GO:0043565), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)
GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| regulation of DNA-templated transcription | 2 |
| transcription by RNA polymerase II | 2 |
| male gamete generation | 2 |
| regulation of transcription by RNA polymerase II | 2 |
| meiosis I | 1 |
| male meiotic nuclear division | 1 |
| meiotic cell cycle | 1 |
| developmental process involved in reproduction | 1 |
| cellular developmental process | 1 |
| positive regulation of DNA-templated transcription | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| cell cycle | 1 |
| sexual reproduction | 1 |
| reproductive process | 1 |
| meiotic nuclear division | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription activator activity | 1 |
| positive regulation of transcription by RNA polymerase II | 1 |
| DNA binding | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| binding | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1486 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FOXJ3 | SOX6 | P35712 | 644 |
| FOXJ3 | HES5 | Q5TA89 | 521 |
| FOXJ3 | PAX6 | P26367 | 445 |
| FOXJ3 | PDGFRA | P16234 | 431 |
| FOXJ3 | ZBTB18 | Q99592 | 430 |
| FOXJ3 | MTF1 | Q14872 | 396 |
| FOXJ3 | DICER1 | Q9UPY3 | 387 |
| FOXJ3 | RARG | P13631 | 378 |
| FOXJ3 | RCVRN | P35243 | 375 |
| FOXJ3 | ESRRA | P11474 | 375 |
| FOXJ3 | TFAM | Q00059 | 374 |
| FOXJ3 | RPGRIP1L | Q68CZ1 | 373 |
| FOXJ3 | PDCD10 | Q9BUL8 | 371 |
| FOXJ3 | TCF7 | P36402 | 359 |
| FOXJ3 | NF1 | P21359 | 349 |
IntAct
15 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NEK6 | FOXJ3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NEDD4 | FOXJ3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| YAP1 | FOXJ3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MED23 | FOXJ3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FOXJ3 | SMARCA5 | psi-mi:“MI:0914”(association) | 0.350 |
| FOXJ3 | RPA2 | psi-mi:“MI:0914”(association) | 0.350 |
| TBK1 | FMNL1 | psi-mi:“MI:0914”(association) | 0.350 |
| TBK1 | UBR5 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ENG | IGKV2-28 | psi-mi:“MI:0914”(association) | 0.350 |
| FOXJ3 | SERPINB7 | psi-mi:“MI:0914”(association) | 0.350 |
| NEK6 | FOXJ3 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (43): ALB (Affinity Capture-MS), TP53 (Affinity Capture-MS), RANGAP1 (Affinity Capture-MS), SMARCA5 (Affinity Capture-MS), UBR2 (Affinity Capture-MS), ZBTB10 (Affinity Capture-MS), RPA2 (Affinity Capture-MS), USP11 (Affinity Capture-MS), FOXJ1 (Affinity Capture-MS), PSMB4 (Affinity Capture-MS), ZBTB2 (Affinity Capture-MS), FOXJ3 (Affinity Capture-RNA), FOXJ3 (Affinity Capture-RNA), FOXJ3 (Affinity Capture-MS), FOXJ3 (Affinity Capture-RNA)
ESM2 similar proteins: A0A096MJY4, A0A486WWJ9, A2ICN5, A2VDZ3, A4UTP7, A8WL06, B7ZR65, H2LBU8, O89038, P10071, P40791, P55197, P55879, Q02078, Q03413, Q03414, Q06413, Q0VGT2, Q14814, Q2KIA0, Q2MJT0, Q32NP8, Q4VYR7, Q5IS56, Q5R444, Q5REW7, Q5U4X3, Q60929, Q61602, Q63943, Q6DFF5, Q6DIF3, Q6F2E7, Q7ZY13, Q8BUR3, Q8CFN5, Q91660, Q91661, Q9DE25, Q9EPK5
Diamond homologs: A0A078BQN7, A0A1W2PRP0, A0A8V0YY16, A1L1S5, A3KNJ3, A8MTJ6, A8XJN7, B5RHS5, D3Z120, F1R8Z9, O00358, O17617, O43638, O54743, O60129, O88470, P32027, P32028, P32030, P32315, P42128, P55316, P56260, P58012, P79772, P85037, P91278, Q00939, Q01167, Q02360, Q12946, Q12947, Q12948, Q12950, Q12951, Q12952, Q13461, Q19802, Q1A1A1, Q1A1A2
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| FOXJ3 | “up-regulates quantity by expression” | MEF2C | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
110 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 87 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2834 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:42189298:CTCA:C | donor_loss | 1.0000 |
| 1:42189299:TCAC:T | donor_loss | 1.0000 |
| 1:42189300:CA:C | donor_loss | 1.0000 |
| 1:42194885:CTCA:C | donor_loss | 1.0000 |
| 1:42194886:TCAC:T | donor_loss | 1.0000 |
| 1:42194887:CA:C | donor_loss | 1.0000 |
| 1:42194888:A:AC | donor_gain | 1.0000 |
| 1:42194889:C:CC | donor_gain | 1.0000 |
| 1:42194889:C:G | donor_loss | 1.0000 |
| 1:42195062:CAC:C | acceptor_gain | 1.0000 |
| 1:42195065:C:CC | acceptor_gain | 1.0000 |
| 1:42199095:GACTT:G | donor_loss | 1.0000 |
| 1:42199096:ACTT:A | donor_loss | 1.0000 |
| 1:42199097:CT:C | donor_loss | 1.0000 |
| 1:42199098:TTA:T | donor_loss | 1.0000 |
| 1:42199099:TA:T | donor_loss | 1.0000 |
| 1:42199100:A:AC | donor_gain | 1.0000 |
| 1:42199100:ACC:A | donor_loss | 1.0000 |
| 1:42199101:C:CC | donor_gain | 1.0000 |
| 1:42205760:A:AC | donor_gain | 1.0000 |
| 1:42205761:C:CC | donor_gain | 1.0000 |
| 1:42205769:G:C | donor_gain | 1.0000 |
| 1:42227881:AC:A | donor_gain | 1.0000 |
| 1:42227882:CC:C | donor_gain | 1.0000 |
| 1:42227964:CCC:C | acceptor_gain | 1.0000 |
| 1:42227965:CC:C | acceptor_gain | 1.0000 |
| 1:42227965:CCC:C | acceptor_gain | 1.0000 |
| 1:42227966:CC:C | acceptor_gain | 1.0000 |
| 1:42227967:C:CC | acceptor_gain | 1.0000 |
| 1:42265109:TCCTA:T | donor_loss | 1.0000 |
AlphaMissense
4136 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:42179725:C:A | W618C | 1.000 |
| 1:42179725:C:G | W618C | 1.000 |
| 1:42179726:C:G | W618S | 1.000 |
| 1:42179727:A:G | W618R | 1.000 |
| 1:42179727:A:T | W618R | 1.000 |
| 1:42179731:A:C | F616L | 1.000 |
| 1:42179731:A:T | F616L | 1.000 |
| 1:42179732:A:C | F616C | 1.000 |
| 1:42179732:A:G | F616S | 1.000 |
| 1:42179733:A:G | F616L | 1.000 |
| 1:42188838:A:G | F515S | 1.000 |
| 1:42188847:A:G | L512P | 1.000 |
| 1:42188859:A:G | L508P | 1.000 |
| 1:42188890:A:G | W498R | 1.000 |
| 1:42188890:A:T | W498R | 1.000 |
| 1:42188905:C:G | A493P | 1.000 |
| 1:42188925:A:G | L486P | 1.000 |
| 1:42189333:A:G | W475R | 1.000 |
| 1:42189333:A:T | W475R | 1.000 |
| 1:42189347:G:T | A470D | 1.000 |
| 1:42189368:A:G | L463P | 1.000 |
| 1:42194928:A:G | L299P | 1.000 |
| 1:42194937:A:G | F296S | 1.000 |
| 1:42227954:C:G | A153P | 1.000 |
| 1:42227955:C:A | W152C | 1.000 |
| 1:42227955:C:G | W152C | 1.000 |
| 1:42227956:C:G | W152S | 1.000 |
| 1:42227957:A:C | W152G | 1.000 |
| 1:42227957:A:G | W152R | 1.000 |
| 1:42227957:A:T | W152R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000000261 (1:42265511 G>C), RS1000005230 (1:42263492 T>C), RS1000006415 (1:42290127 T>C), RS1000071445 (1:42218778 C>A), RS1000072289 (1:42313369 T>C), RS1000113606 (1:42271334 T>C), RS1000119354 (1:42326021 G>A,C), RS1000160560 (1:42282535 C>T), RS1000184202 (1:42239633 T>A), RS1000188194 (1:42198320 C>G), RS1000240923 (1:42307330 T>C), RS1000294137 (1:42217992 T>G), RS1000297521 (1:42225378 C>A), RS1000316545 (1:42289149 T>C), RS1000324471 (1:42295359 C>T)
Disease associations
OMIM: gene MIM:616035 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects methylation, decreases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| geraniol | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases abundance, increases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| coumarin | decreases phosphorylation | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| deguelin | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Vehicle Emissions | affects expression, increases abundance | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | decreases expression | 1 |
| Methotrexate | decreases expression | 1 |
| Phenobarbital | affects expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.