FBXO44
gene geneOn this page
Also known as FBX30FBG3MGC14140Fbxo6aFbx44
Summary
FBXO44 (F-box protein 44, HGNC:24847) is a protein-coding gene on chromosome 1p36.22, encoding F-box only protein 44 (Q9H4M3). Substrate-recognition component of two distinct E3 ligase complexes, the SKP1-CUL1-FBXO44 complex and the CUL4B-DDB1-FBXO44 complex.
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It is also a member of the NFB42 (neural F Box 42 kDa) family, similar to F-box only protein 2 and F-box only protein 6. Several alternatively spliced transcript variants encoding two distinct isoforms have been found for this gene.
Source: NCBI Gene 93611 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 73 total
- MANE Select transcript:
NM_033182
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24847 |
| Approved symbol | FBXO44 |
| Name | F-box protein 44 |
| Location | 1p36.22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FBX30, FBG3, MGC14140, Fbxo6a, Fbx44 |
| Ensembl gene | ENSG00000132879 |
| Ensembl biotype | protein_coding |
| OMIM | 609111 |
| Entrez | 93611 |
Gene structure
Transcript identifiers
Ensembl transcripts: 23 — 23 protein_coding
ENST00000251546, ENST00000251547, ENST00000376760, ENST00000376762, ENST00000376768, ENST00000376770, ENST00000425796, ENST00000471895, ENST00000475435, ENST00000858192, ENST00000858193, ENST00000858194, ENST00000858195, ENST00000858196, ENST00000858197, ENST00000858198, ENST00000858199, ENST00000933204, ENST00000933205, ENST00000933206, ENST00000933207, ENST00000968217, ENST00000968218
RefSeq mRNA: 7 — MANE Select: NM_033182
NM_001014765, NM_001304790, NM_001304791, NM_001330355, NM_033182, NM_183412, NM_183413
CCDS: CCDS131, CCDS132, CCDS81261
Canonical transcript exons
ENST00000251547 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000818914 | 11658267 | 11658393 |
| ENSE00000955677 | 11655806 | 11656100 |
| ENSE00001755240 | 11661130 | 11663327 |
| ENSE00001875891 | 11654877 | 11654952 |
| ENSE00003485315 | 11658533 | 11658628 |
| ENSE00003623713 | 11658736 | 11658871 |
Expression profiles
Bgee: expression breadth ubiquitous, 232 present calls, max score 99.07.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.0798 / max 217.7808, expressed in 1756 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 624 | 16.6795 | 1755 |
| 623 | 0.2256 | 96 |
| 625 | 0.1263 | 77 |
| 622 | 0.0484 | 21 |
Top tissues by expression
245 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 99.07 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 98.98 | gold quality |
| cerebellar cortex | UBERON:0002129 | 98.93 | gold quality |
| right frontal lobe | UBERON:0002810 | 98.40 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 97.97 | gold quality |
| cerebellum | UBERON:0002037 | 97.92 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 97.76 | gold quality |
| prefrontal cortex | UBERON:0000451 | 97.71 | gold quality |
| nucleus accumbens | UBERON:0001882 | 97.45 | gold quality |
| putamen | UBERON:0001874 | 97.13 | gold quality |
| amygdala | UBERON:0001876 | 96.68 | gold quality |
| caudate nucleus | UBERON:0001873 | 96.63 | gold quality |
| hypothalamus | UBERON:0001898 | 96.62 | gold quality |
| adenohypophysis | UBERON:0002196 | 96.20 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 95.47 | gold quality |
| frontal cortex | UBERON:0001870 | 95.35 | gold quality |
| frontal lobe | UBERON:0016525 | 95.35 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 95.19 | gold quality |
| neocortex | UBERON:0001950 | 95.09 | gold quality |
| pituitary gland | UBERON:0000007 | 95.01 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 94.48 | gold quality |
| brain | UBERON:0000955 | 94.32 | gold quality |
| forebrain | UBERON:0001890 | 94.21 | gold quality |
| pancreatic ductal cell | CL:0002079 | 94.08 | silver quality |
| spinal cord | UBERON:0002240 | 93.97 | gold quality |
| metanephros cortex | UBERON:0010533 | 93.93 | gold quality |
| granulocyte | CL:0000094 | 93.86 | gold quality |
| cortical plate | UBERON:0005343 | 93.61 | gold quality |
| cerebral cortex | UBERON:0000956 | 93.51 | gold quality |
| kidney epithelium | UBERON:0004819 | 93.29 | silver quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-84465 | yes | 6.50 |
| E-ANND-3 | no | 2.42 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
54 targeting FBXO44, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-383-3P | 99.85 | 65.84 | 1359 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-320A-3P | 99.77 | 69.73 | 2107 |
| HSA-MIR-320B | 99.77 | 69.73 | 2107 |
| HSA-MIR-320C | 99.77 | 69.73 | 2107 |
| HSA-MIR-320D | 99.77 | 69.73 | 2107 |
| HSA-MIR-4429 | 99.77 | 69.62 | 2111 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-6745 | 99.74 | 65.33 | 1321 |
| HSA-MIR-10393-3P | 99.72 | 66.56 | 961 |
| HSA-MIR-6801-5P | 99.72 | 66.50 | 981 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-6762-3P | 99.66 | 66.94 | 1188 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
Literature-anchored findings (GeneRIF, showing 6)
- Skp1 and Fbg3 were co-expressed in E. coli. The plate-shaped crystals belonged to space group P2(1)2(1)2(1), with unit-cell parameters a = 34.1, b = 76.6, c = 193.9 A and one molecule per asymmetric unit. (PMID:20057081)
- FBXO44 mediates BRCA1 ubiquitination and degradation (PMID:23086937)
- FBXO44-mediated degradation of RGS2 protein uniquely depends on a Cul4B/DDB1 complex. (PMID:25970626)
- Although the overall structure of FBG3 is similar to that of Fbs1, the residues that form the Fbs1 carbohydrate-binding pocket failed to be superposed with the corresponding residues of FBG3. (PMID:26460611)
- N-Terminal Targeting of Regulator of G Protein Signaling Protein 2 for F-Box Only Protein 44-Mediated Proteasomal Degradation. (PMID:33008920)
- FBXO44 promotes DNA replication-coupled repetitive element silencing in cancer cells. (PMID:33357448)
Cross-species orthologs
12 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fbxo44.5 | ENSDARG00000012035 |
| danio_rerio | fbxo44.1 | ENSDARG00000022623 |
| danio_rerio | fbxo6.3 | ENSDARG00000037645 |
| danio_rerio | fbxo44.7 | ENSDARG00000057884 |
| danio_rerio | fbxo6.2 | ENSDARG00000057899 |
| danio_rerio | fbxo44.9 | ENSDARG00000071029 |
| danio_rerio | fbxo44.3 | ENSDARG00000071044 |
| danio_rerio | fbxo44.10 | ENSDARG00000092077 |
| danio_rerio | fbxo44.8 | ENSDARG00000092166 |
| danio_rerio | fbxo6.1 | ENSDARG00000115843 |
| mus_musculus | Fbxo44 | ENSMUSG00000029001 |
| rattus_norvegicus | Fbxo44 | ENSRNOG00000009298 |
Paralogs (5): FBXO2 (ENSG00000116661), FBXO6 (ENSG00000116663), FBXO27 (ENSG00000161243), NCCRP1 (ENSG00000188505), FBXO17 (ENSG00000269190)
Protein
Protein identifiers
F-box only protein 44 — Q9H4M3 (reviewed: Q9H4M3)
Alternative names: F-box protein FBX30, F-box/G-domain protein 3
All UniProt accessions (5): A0A0A0MSI6, B7Z1P2, Q9H4M3, R4GMZ8, R4GNH4
UniProt curated annotations — full annotation on UniProt →
Function. Substrate-recognition component of two distinct E3 ligase complexes, the SKP1-CUL1-FBXO44 complex and the CUL4B-DDB1-FBXO44 complex. The complex SCF(FBXO44) complex ubiquitinates and mediates BRCA1 degradation. In association with cullin 4B/CUL4B and DDB1, mediates the ubiquitination of RGS2 leading to its degradation. Additionally, regulates the pregnane X receptor/NR1I2 protein level by ubiquitination and degradation.
Subunit / interactions. Part of a SCF (SKP1-cullin-F-box) protein ligase complex. Interacts with SKP1 and CUL1. Interacts with CUL4B and DDB1. Interacts wwith BRCA1; this interaction mediates BRCA1 ubiquitination and subsequent degradation. Interacts with RGS2; this interaction mediates RGS2 ubiquitination and subsequent degradation. Interacts with PXR/NR1I2; this interaction mediates PXR/NR1I2 ubiquitination and subsequent degradation.
Subcellular location. Nucleus.
Tissue specificity. Abundantly expressed in brain and kidney. Expressed at lower levels in heart, spleen and liver.
Miscellaneous. In contrast to other FBA domain containing proteins, FBXO44 demonstrates no significant binding to any of the 200 glycans tested.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H4M3-1 | 1 | yes |
| Q9H4M3-2 | 2 |
RefSeq proteins (7): NP_001014765, NP_001291719, NP_001291720, NP_001317284, NP_149438, NP_904319, NP_904320 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001810 | F-box_dom | Domain |
| IPR007397 | F-box-assoc_dom | Domain |
| IPR008979 | Galactose-bd-like_sf | Homologous_superfamily |
| IPR036047 | F-box-like_dom_sf | Homologous_superfamily |
| IPR039752 | F-box_only | Family |
Pfam: PF04300, PF12937
UniProt features (33 total): strand 14, helix 11, domain 2, splice variant 2, sequence conflict 2, chain 1, turn 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5B4N | X-RAY DIFFRACTION | 2.3 |
| 3WSO | X-RAY DIFFRACTION | 2.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H4M3-F1 | 92.60 | 0.82 |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-8951664 | Neddylation |
| R-HSA-983168 | Antigen processing: Ubiquitination & Proteasome degradation |
MSigDB gene sets: 93 (showing top):
GOBP_RESPONSE_TO_NITROGEN_COMPOUND, WANG_CLIM2_TARGETS_UP, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, AP1_Q4_01, TGANTCA_AP1_C, AACTTT_UNKNOWN, GOBP_SCF_DEPENDENT_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, GOBP_ERAD_PATHWAY
GO Biological Process (5): glycoprotein catabolic process (GO:0006516), proteasomal protein catabolic process (GO:0010498), SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146), ERAD pathway (GO:0036503), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)
GO Molecular Function (3): ubiquitin-like ligase-substrate adaptor activity (GO:1990756), protein binding (GO:0005515), ubiquitin protein ligase activity (GO:0061630)
GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), SCF ubiquitin ligase complex (GO:0019005)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
| Class I MHC mediated antigen processing & presentation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein catabolic process | 2 |
| proteasomal protein catabolic process | 2 |
| cellular anatomical structure | 2 |
| glycoprotein metabolic process | 1 |
| carbohydrate derivative catabolic process | 1 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 1 |
| response to endoplasmic reticulum stress | 1 |
| response to chemical | 1 |
| ubiquitin-dependent protein catabolic process | 1 |
| enzyme-substrate adaptor activity | 1 |
| binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
33 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CDK13 | CCNK | psi-mi:“MI:0914”(association) | 0.830 |
| FBXO44 | SKP1 | psi-mi:“MI:0915”(physical association) | 0.800 |
| SKP1 | FBXO44 | psi-mi:“MI:0915”(physical association) | 0.800 |
| COPS6 | RHOBTB1 | psi-mi:“MI:0914”(association) | 0.730 |
| SKP1 | MYCBP2 | psi-mi:“MI:0914”(association) | 0.640 |
| FBXO44 | BORCS6 | psi-mi:“MI:0915”(physical association) | 0.600 |
| BORCS6 | FBXO44 | psi-mi:“MI:0915”(physical association) | 0.600 |
| CUL1 | FBXO21 | psi-mi:“MI:0914”(association) | 0.600 |
| FBXO44 | SERTAD3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SERTAD3 | FBXO44 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FBXO44 | CUL1 | psi-mi:“MI:0914”(association) | 0.530 |
| FBXO44 | DDX21 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PRNP | CARNS1 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL1 | LGALS8 | psi-mi:“MI:0914”(association) | 0.350 |
| COPS5 | FBLL1 | psi-mi:“MI:0914”(association) | 0.350 |
| COPS6 | DDX3X | psi-mi:“MI:0914”(association) | 0.350 |
| COPS6 | psi-mi:“MI:0914”(association) | 0.350 | |
| SKP1 | BHLHE40 | psi-mi:“MI:0914”(association) | 0.350 |
| PHLDA3 | HSPA8 | psi-mi:“MI:0914”(association) | 0.350 |
| ERCC8 | CCT2 | psi-mi:“MI:0914”(association) | 0.350 |
| FBXO44 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (99): FBXO44 (Two-hybrid), FBXO44 (Two-hybrid), FBXO44 (Two-hybrid), BRCA1 (Biochemical Activity), SKP1 (Affinity Capture-MS), CUL1 (Affinity Capture-MS), SPA17 (Affinity Capture-MS), FBXO44 (Affinity Capture-MS), FBXO44 (Affinity Capture-Western), RGS2 (Affinity Capture-Western), CUL4B (Affinity Capture-Western), CUL1 (Affinity Capture-Western), SKP1 (Affinity Capture-Western), DDB1 (Affinity Capture-Western), SKP1 (Co-crystal Structure)
ESM2 similar proteins: B2GV54, D3K5L7, E2R222, O60656, O95803, P16152, P52848, Q08DW9, Q0VCJ8, Q0VD27, Q15645, Q1JQE6, Q2HJ19, Q3U129, Q3UA06, Q3UHN9, Q4R766, Q5E9T4, Q5R8Y5, Q5RCU5, Q5XHZ9, Q5XIJ5, Q5ZIN0, Q5ZMH6, Q67FW5, Q6AYT7, Q6DD70, Q6GL10, Q6GV29, Q6PIU2, Q8BGB7, Q8BK26, Q8BLF1, Q8BWB6, Q8MI29, Q8N2K0, Q8NFT2, Q8VDI9, Q99JW1, Q99LR1
Diamond homologs: G3X9C2, Q17QK6, Q3SX24, Q568V3, Q6AY27, Q6DIA9, Q6ZVX7, Q80UW2, Q8NI29, Q923V4, Q96EF6, Q9H4M3, Q9N0C8, Q9NRD1, Q9QZM8, Q9UK22, Q8BK26, Q9QZN4
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| FBXO44 | “down-regulates quantity by destabilization” | BRCA1 | binding |
| FBXO44 | “up-regulates activity” | “Cullin 1-RBX1-Skp1” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 25 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Neddylation | 6 | 15.8× | 2e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
73 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 40 |
| Likely benign | 23 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1638 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:11650831:CTCT:C | acceptor_gain | 1.0000 |
| 1:11650833:CT:C | acceptor_gain | 1.0000 |
| 1:11650842:C:CT | acceptor_gain | 1.0000 |
| 1:11656072:G:GT | donor_gain | 1.0000 |
| 1:11656073:A:T | donor_gain | 1.0000 |
| 1:11658262:A:AG | acceptor_gain | 1.0000 |
| 1:11658263:T:G | acceptor_gain | 1.0000 |
| 1:11658265:A:AG | acceptor_gain | 1.0000 |
| 1:11658265:A:AT | acceptor_loss | 1.0000 |
| 1:11658265:AGAG:A | acceptor_gain | 1.0000 |
| 1:11658265:AGAGG:A | acceptor_gain | 1.0000 |
| 1:11658266:G:GG | acceptor_gain | 1.0000 |
| 1:11658266:GA:G | acceptor_gain | 1.0000 |
| 1:11658266:GAGG:G | acceptor_gain | 1.0000 |
| 1:11658266:GAGGG:G | acceptor_gain | 1.0000 |
| 1:11658343:G:GT | donor_gain | 1.0000 |
| 1:11658362:CAGG:C | donor_loss | 1.0000 |
| 1:11658363:AG:A | donor_loss | 1.0000 |
| 1:11658365:GTCA:G | donor_loss | 1.0000 |
| 1:11658394:G:GG | donor_gain | 1.0000 |
| 1:11658624:GACTG:G | donor_gain | 1.0000 |
| 1:11658626:CTG:C | donor_gain | 1.0000 |
| 1:11658627:TG:T | donor_gain | 1.0000 |
| 1:11658627:TGGT:T | donor_loss | 1.0000 |
| 1:11658628:GG:G | donor_gain | 1.0000 |
| 1:11658628:GGT:G | donor_loss | 1.0000 |
| 1:11658629:G:GG | donor_gain | 1.0000 |
| 1:11658629:GTG:G | donor_loss | 1.0000 |
| 1:11658630:T:G | donor_loss | 1.0000 |
| 1:11658631:GAGT:G | donor_loss | 1.0000 |
AlphaMissense
1678 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:11658311:T:A | W104R | 0.998 |
| 1:11658311:T:C | W104R | 0.998 |
| 1:11658545:G:C | K135N | 0.997 |
| 1:11658545:G:T | K135N | 0.997 |
| 1:11658863:T:A | W206R | 0.997 |
| 1:11658863:T:C | W206R | 0.997 |
| 1:11661241:A:C | S246R | 0.997 |
| 1:11661243:C:A | S246R | 0.997 |
| 1:11661243:C:G | S246R | 0.997 |
| 1:11658313:G:C | W104C | 0.995 |
| 1:11658313:G:T | W104C | 0.995 |
| 1:11658377:T:C | F126L | 0.995 |
| 1:11658379:C:A | F126L | 0.995 |
| 1:11658379:C:G | F126L | 0.995 |
| 1:11658865:G:C | W206C | 0.995 |
| 1:11658865:G:T | W206C | 0.995 |
| 1:11661179:T:C | F225S | 0.995 |
| 1:11658281:T:A | W94R | 0.994 |
| 1:11658281:T:C | W94R | 0.994 |
| 1:11661224:G:A | G240D | 0.994 |
| 1:11658562:T:A | L141H | 0.993 |
| 1:11658624:G:C | D162H | 0.993 |
| 1:11661142:T:C | F213L | 0.993 |
| 1:11661144:C:A | F213L | 0.993 |
| 1:11661144:C:G | F213L | 0.993 |
| 1:11658312:G:C | W104S | 0.992 |
| 1:11658546:T:C | S136P | 0.992 |
| 1:11661178:T:C | F225L | 0.992 |
| 1:11661180:T:A | F225L | 0.992 |
| 1:11661180:T:G | F225L | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000097533 (1:11663779 C>T), RS1000641466 (1:11661435 C>G,T), RS1000704875 (1:11660438 G>C), RS1001074408 (1:11656176 T>A), RS1001165716 (1:11653494 A>T), RS1001269221 (1:11663454 TCAC>T), RS1001957857 (1:11660796 G>A), RS1002202050 (1:11655771 G>A), RS1002303826 (1:11652748 G>C), RS1002378695 (1:11655587 G>T), RS1002582379 (1:11658426 C>T), RS1002862438 (1:11658186 A>C,G), RS1002881033 (1:11657006 AG>A), RS1002952831 (1:11662157 A>G), RS1003075233 (1:11658681 C>T)
Disease associations
OMIM: gene MIM:609111 | 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 |
|---|---|---|
| GCST008478_1 | Neurological blood protein biomarker levels | 3.000000e-10 |
| GCST010654_5 | Arterial stiffness (brachial-femoral pulse wave velocity) | 1.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004517 | arterial stiffness measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
17 total (human), top 17 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| alpha phellandrene | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Urethane | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | decreases expression | 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.