UBXN4
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Also known as KIAA0242
Summary
UBXN4 (UBX domain protein 4, HGNC:14860) is a protein-coding gene on chromosome 2q21.3, encoding UBX domain-containing protein 4 (Q92575). Involved in endoplasmic reticulum-associated protein degradation (ERAD).
UBXD2 is an integral membrane protein of the endoplasmic reticulum (ER) that binds valosin-containing protein (VCP; MIM 601023) and promotes ER-associated protein degradation (ERAD) (Liang et al., 2006 [PubMed 16968747]).
Source: NCBI Gene 23190 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 87 total
- Druggable target: yes
- MANE Select transcript:
NM_014607
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14860 |
| Approved symbol | UBXN4 |
| Name | UBX domain protein 4 |
| Location | 2q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0242 |
| Ensembl gene | ENSG00000144224 |
| Ensembl biotype | protein_coding |
| OMIM | 611216 |
| Entrez | 23190 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 15 protein_coding, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 2 retained_intron
ENST00000272638, ENST00000415164, ENST00000416538, ENST00000426921, ENST00000467065, ENST00000470687, ENST00000471246, ENST00000490163, ENST00000882676, ENST00000882677, ENST00000882678, ENST00000928823, ENST00000928824, ENST00000928825, ENST00000928826, ENST00000928827, ENST00000928828, ENST00000944515, ENST00000944516, ENST00000944517, ENST00000944518
RefSeq mRNA: 1 — MANE Select: NM_014607
NM_014607
CCDS: CCDS42761
Canonical transcript exons
ENST00000272638 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001269798 | 135741855 | 135742011 |
| ENSE00003474674 | 135753539 | 135753567 |
| ENSE00003521047 | 135748267 | 135748369 |
| ENSE00003547148 | 135770571 | 135770735 |
| ENSE00003550213 | 135776249 | 135776351 |
| ENSE00003556279 | 135778948 | 135779079 |
| ENSE00003583254 | 135755517 | 135755691 |
| ENSE00003585360 | 135772420 | 135772547 |
| ENSE00003588038 | 135780183 | 135780385 |
| ENSE00003623067 | 135782749 | 135785056 |
| ENSE00003670962 | 135761818 | 135761911 |
| ENSE00003673641 | 135769769 | 135769823 |
| ENSE00003683662 | 135754159 | 135754277 |
Expression profiles
Bgee: expression breadth ubiquitous, 303 present calls, max score 98.89.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 70.5819 / max 1385.2260, expressed in 1827 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 22659 | 36.1381 | 1820 |
| 22658 | 20.5495 | 1790 |
| 22655 | 9.3726 | 1712 |
| 22656 | 2.5775 | 1210 |
| 22657 | 1.2322 | 736 |
| 22660 | 0.7119 | 385 |
Top tissues by expression
303 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 98.89 | gold quality |
| pylorus | UBERON:0001166 | 98.56 | gold quality |
| cardia of stomach | UBERON:0001162 | 98.26 | gold quality |
| secondary oocyte | CL:0000655 | 98.18 | gold quality |
| cranial nerve II | UBERON:0000941 | 97.98 | gold quality |
| seminal vesicle | UBERON:0000998 | 97.96 | gold quality |
| adrenal tissue | UBERON:0018303 | 97.95 | gold quality |
| body of pancreas | UBERON:0001150 | 97.78 | gold quality |
| nipple | UBERON:0002030 | 97.58 | gold quality |
| endometrium | UBERON:0001295 | 97.52 | gold quality |
| pancreas | UBERON:0001264 | 97.48 | gold quality |
| corpus epididymis | UBERON:0004359 | 97.47 | gold quality |
| renal medulla | UBERON:0000362 | 97.39 | gold quality |
| male germ cell | CL:0000015 | 97.38 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.37 | gold quality |
| ventricular zone | UBERON:0003053 | 97.35 | gold quality |
| parietal pleura | UBERON:0002400 | 97.31 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 97.29 | gold quality |
| rectum | UBERON:0001052 | 97.27 | gold quality |
| pancreatic ductal cell | CL:0002079 | 97.22 | gold quality |
| oocyte | CL:0000023 | 97.20 | gold quality |
| medial globus pallidus | UBERON:0002477 | 97.18 | gold quality |
| caput epididymis | UBERON:0004358 | 97.16 | gold quality |
| gall bladder | UBERON:0002110 | 97.14 | gold quality |
| monocyte | CL:0000576 | 97.13 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 97.04 | gold quality |
| mononuclear cell | CL:0000842 | 97.02 | gold quality |
| visceral pleura | UBERON:0002401 | 97.00 | gold quality |
| pericardium | UBERON:0002407 | 96.94 | gold quality |
| pleura | UBERON:0000977 | 96.93 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
113 targeting UBXN4, 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-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-8075 | 99.97 | 67.20 | 962 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-3682-5P | 99.93 | 67.97 | 1163 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
Literature-anchored findings (GeneRIF, showing 2)
- Erasin/UBXD2 may be involved in endoplasmic-reticulum-associated protein degradation and in Alzheimer’s disease. (PMID:16968747)
- Knockdown of erasin, a platform for p97/VCP and ubiquilin binding, or knockdown of ubiquilin in human cells slowed degradation of two classical endoplasmic reticulum-associated protein degradation substrates. (PMID:19822669)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Ubxn4 | ENSMUSG00000026353 |
| rattus_norvegicus | Ubxn4 | ENSRNOG00000003625 |
| caenorhabditis_elegans | WBGENE00022703 |
Paralogs (5): TNRC6C (ENSG00000078687), TNRC6A (ENSG00000090905), TNRC6B (ENSG00000100354), UBAC1 (ENSG00000130560), UBXN1 (ENSG00000162191)
Protein
Protein identifiers
UBX domain-containing protein 4 — Q92575 (reviewed: Q92575)
Alternative names: Erasin, UBX domain-containing protein 2
All UniProt accessions (4): Q92575, C9JLR4, F8WB86, Q6PJ80
UniProt curated annotations — full annotation on UniProt →
Function. Involved in endoplasmic reticulum-associated protein degradation (ERAD). Acts as a platform to recruit both UBQLN1 and VCP to the ER during ERAD.
Subunit / interactions. Directly interacts with VCP. Interacts with UBQLN1. Forms a complex with VCP and UBQLN1.
Subcellular location. Endoplasmic reticulum membrane. Nucleus envelope.
Tissue specificity. Expressed in many tissues, including heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Accumulates in Alzheimer disease-afflicted brains (at protein level).
Domain organisation. The UBX domain is required for interaction with VCP. The intramembrane domain also contains the signal for ER targeting.
Induction. By ER stress-inducing agents such as tunicamycin, thapsigargin, DTT and the calcium ionophore A23187 (at protein level).
RefSeq proteins (1): NP_055422* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001012 | UBX_dom | Domain |
| IPR029071 | Ubiquitin-like_domsf | Homologous_superfamily |
| IPR036249 | Thioredoxin-like_sf | Homologous_superfamily |
Pfam: PF00789, PF23187
UniProt features (24 total): strand 6, compositionally biased region 5, helix 3, region of interest 3, topological domain 2, chain 1, modified residue 1, sequence variant 1, intramembrane region 1, domain 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2KXJ | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q92575-F1 | 76.04 | 0.46 |
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 (1): 489
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 189 (showing top):
GOBP_RESPONSE_TO_NITROGEN_COMPOUND, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, MORF_RAB5A, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, MORF_PSMC2, OUELLET_OVARIAN_CANCER_INVASIVE_VS_LMP_UP, ONKEN_UVEAL_MELANOMA_UP, MYOD_01, AMIT_EGF_RESPONSE_120_HELA, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, MORF_PPP6C, NRF2_Q4, STONER_ESOPHAGEAL_CARCINOGENESIS_UP, DODD_NASOPHARYNGEAL_CARCINOMA_UP
GO Biological Process (2): response to unfolded protein (GO:0006986), ERAD pathway (GO:0036503)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (6): nuclear envelope (GO:0005635), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), cytosol (GO:0005829), nucleus (GO:0005634), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| endomembrane system | 2 |
| cytoplasm | 2 |
| intracellular membrane-bounded organelle | 2 |
| cellular anatomical structure | 2 |
| response to topologically incorrect protein | 1 |
| proteasomal protein catabolic process | 1 |
| response to endoplasmic reticulum stress | 1 |
| response to chemical | 1 |
| binding | 1 |
| nucleus | 1 |
| organelle envelope | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
Protein interactions and networks
STRING
1022 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| UBXN4 | VCP | P55072 | 961 |
| UBXN4 | FAF2 | Q96CS3 | 825 |
| UBXN4 | UBXN6 | Q9BZV1 | 690 |
| UBXN4 | UBQLN1 | Q9UMX0 | 690 |
| UBXN4 | CD3D | P04234 | 685 |
| UBXN4 | UFD1 | Q92890 | 657 |
| UBXN4 | UBXN7 | O94888 | 620 |
| UBXN4 | UBE2G2 | P56554 | 613 |
| UBXN4 | SEL1L | Q9UBV2 | 597 |
| UBXN4 | LRRC59 | Q96AG4 | 579 |
| UBXN4 | UBXN10 | Q96LJ8 | 578 |
| UBXN4 | FAF1 | Q9UNN5 | 575 |
| UBXN4 | UBXN8 | O00124 | 553 |
| UBXN4 | AMFR | P26442 | 553 |
| UBXN4 | UBXN1 | Q04323 | 549 |
IntAct
91 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| UBXN4 | VCP | psi-mi:“MI:0915”(physical association) | 0.740 |
| VCP | UBXN4 | psi-mi:“MI:0914”(association) | 0.740 |
| UBXN4 | VCP | psi-mi:“MI:2364”(proximity) | 0.740 |
| VCP | UBXN4 | psi-mi:“MI:2364”(proximity) | 0.740 |
| UBXN4 | UBQLN1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| UBQLN1 | UBXN4 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| VCP | UBXN8 | psi-mi:“MI:0914”(association) | 0.690 |
| UBXN4 | UBE4A | psi-mi:“MI:0914”(association) | 0.620 |
| UBXN4 | UBE4A | psi-mi:“MI:0915”(physical association) | 0.620 |
| IGF1R | PIK3R2 | psi-mi:“MI:2364”(proximity) | 0.590 |
| INSR | PIK3R2 | psi-mi:“MI:2364”(proximity) | 0.570 |
| UBQLN1 | UBXN4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBXN4 | UBQLN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GNGT1 | UBXN4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.480 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (288): UBQLN1 (Two-hybrid), UBXN4 (Affinity Capture-MS), UBE4A (Affinity Capture-MS), UBXN4 (Affinity Capture-Western), UBXN4 (Affinity Capture-Western), PSMA6 (Affinity Capture-Western), ACTA2 (Affinity Capture-MS), VPS13A (Affinity Capture-MS), VPS13C (Affinity Capture-MS), IP6K1 (Affinity Capture-MS), FBXO11 (Affinity Capture-MS), UBE4A (Affinity Capture-MS), BCL11A (Affinity Capture-MS), DPP8 (Affinity Capture-MS), UBXN4 (Two-hybrid)
ESM2 similar proteins: E9PSK7, O12940, O35815, O43815, O48726, O55106, O60271, P04973, P09496, P35521, P54105, P54106, P54252, P54731, P70483, Q04753, Q05B58, Q15650, Q28678, Q3ZBU9, Q58A65, Q5EAE3, Q5R4I3, Q5R719, Q5RGJ6, Q5XIJ6, Q5ZKG8, Q61189, Q640W6, Q68FJ8, Q6DG43, Q6DKA1, Q6PGH0, Q8CFK2, Q8UVK2, Q924K2, Q92575, Q92994, Q96MW1, Q9CR27
Diamond homologs: E1BMF7, E1BY77, F1QFS9, P34631, P38237, P45974, P54201, P56399, P57075, Q04323, Q11119, Q28DG7, Q32KW2, Q3V3E1, Q3ZBU9, Q499N6, Q5BKP2, Q5HZY0, Q5R407, Q5R4I3, Q5XIR9, Q5ZJI9, Q6GL77, Q6GLV4, Q6IP50, Q6NXA9, Q7YTB0, Q8BGG7, Q8L6Y1, Q8TF42, Q8VCH8, Q8VDI7, Q922Y1, Q92575, Q92995, Q9BSL1, Q9BZV1, Q9TXH9, Q9VCE9, Q8H0T4
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 82 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 |
|---|---|---|---|
| Signaling by BRAF and RAF1 fusions | 5 | 14.2× | 6e-04 |
| Autophagy | 5 | 12.4× | 9e-04 |
| Macroautophagy | 5 | 9.6× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ERAD pathway | 10 | 25.2× | 4e-09 |
| macroautophagy | 5 | 16.7× | 3e-03 |
| insulin receptor signaling pathway | 5 | 15.4× | 3e-03 |
| axonogenesis | 5 | 11.2× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
87 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 64 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2627 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:135748261:TTACA:T | acceptor_loss | 1.0000 |
| 2:135748262:TACA:T | acceptor_loss | 1.0000 |
| 2:135748264:CA:C | acceptor_loss | 1.0000 |
| 2:135748265:A:AG | acceptor_gain | 1.0000 |
| 2:135748265:A:T | acceptor_loss | 1.0000 |
| 2:135748266:G:GG | acceptor_gain | 1.0000 |
| 2:135748365:AAAAG:A | donor_loss | 1.0000 |
| 2:135748366:AAAG:A | donor_loss | 1.0000 |
| 2:135748367:AAGG:A | donor_loss | 1.0000 |
| 2:135748368:AG:A | donor_loss | 1.0000 |
| 2:135748369:GGTT:G | donor_loss | 1.0000 |
| 2:135748370:G:C | donor_loss | 1.0000 |
| 2:135748371:T:A | donor_loss | 1.0000 |
| 2:135754129:T:G | acceptor_gain | 1.0000 |
| 2:135755511:GCCTA:G | acceptor_loss | 1.0000 |
| 2:135755512:CCTA:C | acceptor_loss | 1.0000 |
| 2:135755513:CTAG:C | acceptor_loss | 1.0000 |
| 2:135755514:TA:T | acceptor_loss | 1.0000 |
| 2:135755515:AGATG:A | acceptor_loss | 1.0000 |
| 2:135755516:G:A | acceptor_loss | 1.0000 |
| 2:135755687:AACAG:A | donor_loss | 1.0000 |
| 2:135755688:ACAG:A | donor_loss | 1.0000 |
| 2:135755689:CAG:C | donor_loss | 1.0000 |
| 2:135755690:AG:A | donor_loss | 1.0000 |
| 2:135755691:GG:G | donor_loss | 1.0000 |
| 2:135755692:G:GC | donor_loss | 1.0000 |
| 2:135755693:T:A | donor_loss | 1.0000 |
| 2:135761804:A:AG | acceptor_gain | 1.0000 |
| 2:135761805:T:G | acceptor_gain | 1.0000 |
| 2:135761808:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
3326 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:135753556:T:C | F68S | 1.000 |
| 2:135754182:A:C | S80R | 1.000 |
| 2:135754184:T:A | S80R | 1.000 |
| 2:135754184:T:G | S80R | 1.000 |
| 2:135772424:G:C | R276P | 1.000 |
| 2:135782858:T:A | W500R | 1.000 |
| 2:135782858:T:C | W500R | 1.000 |
| 2:135782860:G:C | W500C | 1.000 |
| 2:135782860:G:T | W500C | 1.000 |
| 2:135782863:T:A | N501K | 1.000 |
| 2:135782863:T:G | N501K | 1.000 |
| 2:135782864:G:A | G502R | 1.000 |
| 2:135782864:G:C | G502R | 1.000 |
| 2:135782865:G:A | G502E | 1.000 |
| 2:135782865:G:T | G502V | 1.000 |
| 2:135741936:T:A | W3R | 0.999 |
| 2:135741936:T:C | W3R | 0.999 |
| 2:135741961:C:A | A11D | 0.999 |
| 2:135741964:T:A | I12N | 0.999 |
| 2:135741973:C:A | A15D | 0.999 |
| 2:135748302:T:A | W40R | 0.999 |
| 2:135748302:T:C | W40R | 0.999 |
| 2:135753555:T:C | F68L | 0.999 |
| 2:135753556:T:G | F68C | 0.999 |
| 2:135753557:T:A | F68L | 0.999 |
| 2:135753557:T:G | F68L | 0.999 |
| 2:135754177:C:A | P78Q | 0.999 |
| 2:135754185:T:C | F81L | 0.999 |
| 2:135754187:C:A | F81L | 0.999 |
| 2:135754187:C:G | F81L | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000004143 (2:135778746 C>T), RS1000059371 (2:135748734 A>T), RS1000096397 (2:135748019 G>A,T), RS1000213057 (2:135775116 T>A), RS1000262679 (2:135759281 T>A,G), RS1000267044 (2:135759592 C>A), RS1000392589 (2:135765904 G>C,T), RS1000464306 (2:135783933 G>A), RS1000464365 (2:135750453 C>G), RS1000495560 (2:135750146 A>T), RS1000516104 (2:135784283 A>G), RS1000569486 (2:135741062 A>G), RS1000620002 (2:135743297 T>C), RS1000695474 (2:135746679 G>A,C), RS1000793076 (2:135753815 A>C)
Disease associations
OMIM: gene MIM:611216 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001261_4 | Corneal structure | 1.000000e-06 |
| GCST005951_44 | Body mass index | 1.000000e-09 |
| GCST007576_42 | Chronotype | 5.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0008328 | chronotype measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066308 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.28 | Kd | 5251 | nM | CHEMBL5653589 |
| 5.28 | ED50 | 5251 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149720: Binding affinity to human UBXN4 incubated for 45 mins by Kinobead based pull down assay | kd | 5.2510 | uM |
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol S | decreases methylation, increases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| lasiocarpine | decreases expression | 1 |
| propionaldehyde | increases methylation | 1 |
| bisphenol A | increases expression | 1 |
| nonanal | increases methylation | 1 |
| n-hexanal | increases methylation | 1 |
| trichostatin A | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | increases methylation | 1 |
| caprylic aldehyde | increases methylation | 1 |
| pentanal | increases methylation | 1 |
| heptanal | increases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| torcetrapib | increases expression | 1 |
| bisphenol B | increases expression | 1 |
| ON 01910 | increases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Bortezomib | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Caffeine | increases phosphorylation | 1 |
| Endosulfan | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652762 | Binding | Binding affinity to human UBXN4 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2KC | Abcam HeLa UBXN4 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): keratoconus