UBXN6
gene geneOn this page
Also known as UBXDC2
Summary
UBXN6 (UBX domain protein 6, HGNC:14928) is a protein-coding gene on chromosome 19p13, encoding UBX domain-containing protein 6 (Q9BZV1). May negatively regulate the ATPase activity of VCP, an ATP-driven segregase that associates with different cofactors to control a wide variety of cellular processes.
Enables ATPase binding activity. Involved in ERAD pathway; endosome to lysosome transport via multivesicular body sorting pathway; and macroautophagy. Located in bounding membrane of organelle and cytosol. Part of endosome and protein-containing complex.
Source: NCBI Gene 80700 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 39 total
- MANE Select transcript:
NM_025241
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14928 |
| Approved symbol | UBXN6 |
| Name | UBX domain protein 6 |
| Location | 19p13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | UBXDC2 |
| Ensembl gene | ENSG00000167671 |
| Ensembl biotype | protein_coding |
| OMIM | 611946 |
| Entrez | 80700 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 6 protein_coding, 5 retained_intron, 1 nonsense_mediated_decay
ENST00000301281, ENST00000394765, ENST00000587009, ENST00000587324, ENST00000588238, ENST00000590466, ENST00000591919, ENST00000592358, ENST00000592515, ENST00000593024, ENST00000882458, ENST00000950415
RefSeq mRNA: 2 — MANE Select: NM_025241
NM_001171091, NM_025241
CCDS: CCDS12129, CCDS54201
Canonical transcript exons
ENST00000301281 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001115472 | 4446500 | 4446719 |
| ENSE00001115477 | 4446049 | 4446197 |
| ENSE00001115478 | 4453458 | 4453522 |
| ENSE00001115480 | 4446283 | 4446413 |
| ENSE00001115484 | 4448318 | 4448415 |
| ENSE00001115485 | 4446836 | 4446920 |
| ENSE00001115486 | 4452364 | 4452492 |
| ENSE00001207736 | 4457615 | 4457794 |
| ENSE00002813499 | 4445006 | 4445623 |
| ENSE00003477692 | 4453930 | 4454093 |
| ENSE00003666356 | 4447550 | 4447625 |
Expression profiles
Bgee: expression breadth ubiquitous, 289 present calls, max score 98.86.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 38.2094 / max 2770.4521, expressed in 1817 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 178434 | 36.9863 | 1816 |
| 178433 | 0.7191 | 318 |
| 178432 | 0.3015 | 128 |
| 178431 | 0.1119 | 36 |
| 178435 | 0.0905 | 18 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right testis | UBERON:0004534 | 98.86 | gold quality |
| left testis | UBERON:0004533 | 98.85 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.65 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.62 | gold quality |
| adrenal cortex | UBERON:0001235 | 98.61 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.61 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.57 | gold quality |
| adenohypophysis | UBERON:0002196 | 98.48 | gold quality |
| pituitary gland | UBERON:0000007 | 98.34 | gold quality |
| right frontal lobe | UBERON:0002810 | 98.15 | gold quality |
| blood | UBERON:0000178 | 98.08 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 97.99 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.96 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.89 | gold quality |
| apex of heart | UBERON:0002098 | 97.88 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.87 | gold quality |
| prefrontal cortex | UBERON:0000451 | 97.86 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 97.86 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.83 | gold quality |
| adrenal gland | UBERON:0002369 | 97.77 | gold quality |
| cingulate cortex | UBERON:0003027 | 97.77 | gold quality |
| mucosa of stomach | UBERON:0001199 | 97.61 | gold quality |
| left ovary | UBERON:0002119 | 97.60 | gold quality |
| thyroid gland | UBERON:0002046 | 97.57 | gold quality |
| skin of leg | UBERON:0001511 | 97.55 | gold quality |
| right ovary | UBERON:0002118 | 97.53 | gold quality |
| gastrocnemius | UBERON:0001388 | 97.51 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 97.45 | gold quality |
| nucleus accumbens | UBERON:0001882 | 97.44 | gold quality |
| adult organism | UBERON:0007023 | 97.36 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 11.78 |
| E-MTAB-9221 | yes | 11.55 |
| E-HCAD-10 | no | 1.91 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
19 targeting UBXN6, 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-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-520A-5P | 99.35 | 66.72 | 1632 |
| HSA-MIR-525-5P | 99.35 | 66.85 | 1615 |
| HSA-MIR-6760-5P | 98.87 | 66.73 | 1515 |
| HSA-MIR-3944-5P | 98.50 | 67.55 | 997 |
| HSA-MIR-5008-5P | 98.42 | 65.87 | 1019 |
| HSA-MIR-4637 | 97.69 | 68.14 | 632 |
| HSA-MIR-6787-5P | 97.54 | 63.85 | 457 |
| HSA-MIR-509-3-5P | 97.21 | 67.74 | 1517 |
| HSA-MIR-509-5P | 97.21 | 67.90 | 1512 |
| HSA-MIR-4418 | 97.04 | 67.16 | 1372 |
| HSA-MIR-27A-5P | 97.01 | 65.63 | 528 |
| HSA-MIR-6815-5P | 96.05 | 65.55 | 662 |
| HSA-MIR-6865-5P | 96.05 | 65.58 | 675 |
| HSA-MIR-10396B-5P | 94.99 | 63.57 | 358 |
| HSA-MIR-1908-5P | 94.99 | 63.41 | 352 |
| HSA-MIR-663A | 94.99 | 63.54 | 378 |
| HSA-MIR-6879-3P | 93.93 | 64.00 | 759 |
Literature-anchored findings (GeneRIF, showing 13)
- UBXD1 is a novel co-factor of the human p97 ATPase. (PMID:18656546)
- An additional p97 binding site in UBXD1 that competed with the p47 cofactor for binding to the N domain of p97 was identified. (PMID:19174149)
- these findings suggest that UBXD1 is a regulatory component of endoplasmic reticulum-associated degradation that may modulate the adaptor binding to VCP. (PMID:19275885)
- Data show that expression of VCP mutant proteins, or siRNA-mediated depletion of UBXD1 leads to a block of CAV1 transport at the limiting membrane of enlarged endosomes in cultured cells. (PMID:21822278)
- UBXD1 modulates the trafficking of ERGIC-53-containing vesicles by controlling the interaction of transport factors with the cytoplasmic tail of ERGIC-53. (PMID:22337587)
- Data indicate that endosomal trafficking of CAV1 depends on ubiquitination of the N-terminal region and the subsequent recruitment of VCP-UBXD1. (PMID:23335559)
- UBXD1-N intercalates into the p97-ND1 interface, thereby modulating interdomain communication of p97 domains and its activity with relevance for disease pathogenesis (PMID:26475856)
- Upon damage, p97 translocates to lysosomes and there cooperates with a distinct set of cofactors including UBXD1, PLAA, and the deubiquitinating enzyme YOD1, which we term ELDR components for Endo-Lysosomal Damage Response. (PMID:27753622)
- These results indicate that the outer membrane protein MCL1 is degraded by the VCP-UBXD1 complex and that the process is promoted by the presence of mutant Huntingtin. (PMID:27913212)
- UBXD1 as mitochondrial recruitment factor for p97 further connects the ubiquitin-proteasome system to Parkin-dependent mitophagy and underlines the close cooperation between the different mechanisms involved in mitochondrial maintenance. (PMID:30120381)
- In HIV-positive long-term non-progressors, a higher prevalence of Ala31Thr in UBXN6 was found within its N-terminal region (PMID:31158522)
- Structure of the PUB Domain from Ubiquitin Regulatory X Domain Protein 1 (UBXD1) and Its Interaction with the p97 AAA+ ATPase. (PMID:31847414)
- UBX Domain Protein 6 Positively Regulates JAK-STAT1/2 Signaling. (PMID:34021047)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ubxn6 | ENSDARG00000003087 |
| mus_musculus | Ubxn6 | ENSMUSG00000019578 |
| rattus_norvegicus | Ubxn6 | ENSRNOG00000048509 |
| drosophila_melanogaster | Gint3 | FBGN0034372 |
| caenorhabditis_elegans | WBGENE00019163 |
Paralogs (1): ASPSCR1 (ENSG00000169696)
Protein
Protein identifiers
UBX domain-containing protein 6 — Q9BZV1 (reviewed: Q9BZV1)
Alternative names: UBX domain-containing protein 1
All UniProt accessions (4): Q9BZV1, K7EJ02, K7ELN1, K7EP32
UniProt curated annotations — full annotation on UniProt →
Function. May negatively regulate the ATPase activity of VCP, an ATP-driven segregase that associates with different cofactors to control a wide variety of cellular processes. As a cofactor of VCP, it may play a role in the transport of CAV1 to lysosomes for degradation. It may also play a role in endoplasmic reticulum-associated degradation (ERAD) of misfolded proteins. Together with VCP and other cofactors, it may play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes.
Subunit / interactions. Interacts with VCP through the PUB domain (via C-terminus) and VIM motif (via N-terminus); the interaction is direct. Forms a ternary complex with CAV1 and VCP. Interacts with SYVN1. Interacts with HERPUD1. Interacts with VCPKMT. May interact with DERL1. Interacts with PLAA, VCP and YOD1; may form a complex involved in macroautophagy. Interacts with LMAN1.
Subcellular location. Cytoplasm. Cytosol. Membrane. Nucleus. Cytoskeleton. Microtubule organizing center. Centrosome. Early endosome membrane. Late endosome membrane. Lysosome membrane.
Tissue specificity. Enhanced expression in testis.
Domain organisation. The UBX domain lacks key residues critical for VCP binding.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BZV1-1 | 1 | yes |
| Q9BZV1-2 | 2 |
RefSeq proteins (2): NP_001164562, NP_079517* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001012 | UBX_dom | Domain |
| IPR018997 | PUB_domain | Domain |
| IPR029071 | Ubiquitin-like_domsf | Homologous_superfamily |
| IPR036339 | PUB-like_dom_sf | Homologous_superfamily |
| IPR042774 | UBXN6_PUB | Domain |
Pfam: PF00789, PF09409
UniProt features (50 total): helix 18, strand 12, turn 5, region of interest 4, domain 2, sequence variant 2, modified residue 2, compositionally biased region 2, chain 1, splice variant 1, initiator methionine 1
Structure
Experimental structures (PDB)
9 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8FCN | ELECTRON MICROSCOPY | 2.95 |
| 8FCM | ELECTRON MICROSCOPY | 3.27 |
| 8FCO | ELECTRON MICROSCOPY | 3.31 |
| 8FCT | ELECTRON MICROSCOPY | 3.42 |
| 8FCL | ELECTRON MICROSCOPY | 3.51 |
| 8FCP | ELECTRON MICROSCOPY | 3.52 |
| 8FCQ | ELECTRON MICROSCOPY | 3.93 |
| 8FCR | ELECTRON MICROSCOPY | 4.12 |
| 6SAP | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BZV1-F1 | 76.49 | 0.07 |
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 (2): 2, 96
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 129 (showing top):
GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_LYSOSOMAL_TRANSPORT, GOCC_VACUOLAR_MEMBRANE, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_ENDOSOME_TO_LYSOSOME_TRANSPORT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_VACUOLAR_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_MACROAUTOPHAGY, GOCC_CENTROSOME, GOBP_MULTIVESICULAR_BODY_SORTING_PATHWAY, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, GOBP_ERAD_PATHWAY
GO Biological Process (4): macroautophagy (GO:0016236), endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510), ERAD pathway (GO:0036503), response to stress (GO:0006950)
GO Molecular Function (2): ATPase binding (GO:0051117), protein binding (GO:0005515)
GO Cellular Component (13): nucleus (GO:0005634), cytoplasm (GO:0005737), lysosomal membrane (GO:0005765), endosome (GO:0005768), centrosome (GO:0005813), cytosol (GO:0005829), membrane (GO:0016020), early endosome membrane (GO:0031901), late endosome membrane (GO:0031902), protein-containing complex (GO:0032991), extracellular exosome (GO:0070062), lysosome (GO:0005764), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| endosome membrane | 2 |
| autophagosome assembly | 1 |
| autophagy | 1 |
| endosome to lysosome transport | 1 |
| endosome transport via multivesicular body sorting pathway | 1 |
| proteasomal protein catabolic process | 1 |
| response to endoplasmic reticulum stress | 1 |
| response to chemical | 1 |
| response to stimulus | 1 |
| enzyme binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| cytoplasm | 1 |
| early endosome | 1 |
| late endosome | 1 |
| cellular_component | 1 |
| extracellular vesicle | 1 |
| lytic vacuole | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
978 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| UBXN6 | VCP | P55072 | 960 |
| UBXN6 | YOD1 | Q5VVQ6 | 957 |
| UBXN6 | PLAA | Q9Y263 | 926 |
| UBXN6 | FAF2 | Q96CS3 | 775 |
| UBXN6 | UFD1 | Q92890 | 772 |
| UBXN6 | UBXN1 | Q04323 | 744 |
| UBXN6 | UBXN7 | O94888 | 744 |
| UBXN6 | UBXN2A | P68543 | 731 |
| UBXN6 | NPLOC4 | Q8TAT6 | 703 |
| UBXN6 | NSFL1C | Q9UNZ2 | 702 |
| UBXN6 | UBXN4 | Q92575 | 690 |
| UBXN6 | UBXN10 | Q96LJ8 | 645 |
| UBXN6 | UBE4A | Q14139 | 639 |
| UBXN6 | UBE4B | O95155 | 626 |
| UBXN6 | ATXN3L | Q9H3M9 | 621 |
IntAct
103 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| VCP | UBXN6 | psi-mi:“MI:0915”(physical association) | 0.960 |
| UBXN6 | VCP | psi-mi:“MI:0914”(association) | 0.960 |
| VCP | UBXN6 | psi-mi:“MI:2364”(proximity) | 0.960 |
| UBXN6 | VCP | psi-mi:“MI:2364”(proximity) | 0.960 |
| UBXN6 | VCP | psi-mi:“MI:0915”(physical association) | 0.960 |
| UBXN6 | VCP | psi-mi:“MI:0407”(direct interaction) | 0.960 |
| UBXN6 | TRIM39 | psi-mi:“MI:0915”(physical association) | 0.740 |
| TRIM39 | UBXN6 | psi-mi:“MI:0915”(physical association) | 0.740 |
| UBXN2A | UBXN6 | psi-mi:“MI:0915”(physical association) | 0.740 |
| VCP | UBXN8 | psi-mi:“MI:0914”(association) | 0.690 |
| UBXN6 | MAGEA4 | psi-mi:“MI:0915”(physical association) | 0.670 |
| MAGEA4 | UBXN6 | psi-mi:“MI:0915”(physical association) | 0.670 |
| UBXN6 | MAGEA4 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (410): UBXN6 (Two-hybrid), UBXN6 (Two-hybrid), UBXN6 (Affinity Capture-RNA), UBXN6 (Affinity Capture-RNA), VCP (Affinity Capture-MS), POR (Affinity Capture-MS), VCPKMT (Affinity Capture-MS), UBXN2A (Affinity Capture-MS), ASPSCR1 (Affinity Capture-MS), FAM104A (Affinity Capture-MS), UBXN6 (Two-hybrid), VCP (Reconstituted Complex), VCP (Affinity Capture-MS), NSFL1C (Affinity Capture-MS), UBXN6 (Affinity Capture-MS)
ESM2 similar proteins: A1L131, A4IFK7, C5IJB0, D3ZND0, F1MX48, O60232, O95400, P35689, Q0VCT3, Q17QX2, Q2KIJ6, Q2YD98, Q3ZBK7, Q3ZBN4, Q4R4I0, Q53GS7, Q5EAN7, Q5FVK6, Q5PPF5, Q5RAS2, Q5T0F9, Q68F60, Q69ZT1, Q6AYI4, Q6NU18, Q6TLH3, Q7L4P6, Q7TMX5, Q8BL74, Q8BRN9, Q8BSI6, Q8C0R7, Q8C6D4, Q8N5A5, Q8R322, Q8VDM1, Q91VL8, Q91WA6, Q91WR3, Q969X0
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, Q2KIJ6
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SMURF1 | unknown | UBXN6 | ubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 63 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ERAD pathway | 5 | 15.6× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
39 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 28 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2128 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:4446041:ACACT:A | donor_loss | 1.0000 |
| 19:4446042:CACTC:C | donor_loss | 1.0000 |
| 19:4446043:ACTC:A | donor_loss | 1.0000 |
| 19:4446044:CTCA:C | donor_loss | 1.0000 |
| 19:4446045:TCACC:T | donor_loss | 1.0000 |
| 19:4446046:CA:C | donor_loss | 1.0000 |
| 19:4446047:A:AC | donor_gain | 1.0000 |
| 19:4446047:ACCA:A | donor_loss | 1.0000 |
| 19:4446047:ACCAG:A | donor_gain | 1.0000 |
| 19:4446048:C:CA | donor_loss | 1.0000 |
| 19:4446048:C:CC | donor_gain | 1.0000 |
| 19:4446048:CCAG:C | donor_gain | 1.0000 |
| 19:4446048:CCAGC:C | donor_gain | 1.0000 |
| 19:4446193:AGTGC:A | acceptor_gain | 1.0000 |
| 19:4446194:GTGC:G | acceptor_gain | 1.0000 |
| 19:4446195:TGC:T | acceptor_gain | 1.0000 |
| 19:4446196:GCCTG:G | acceptor_loss | 1.0000 |
| 19:4446198:C:CC | acceptor_gain | 1.0000 |
| 19:4446198:CTGGG:C | acceptor_loss | 1.0000 |
| 19:4446199:T:A | acceptor_loss | 1.0000 |
| 19:4446281:AC:A | donor_gain | 1.0000 |
| 19:4446282:CC:C | donor_gain | 1.0000 |
| 19:4446282:CCCTG:C | donor_gain | 1.0000 |
| 19:4446334:A:AC | donor_gain | 1.0000 |
| 19:4446335:C:CC | donor_gain | 1.0000 |
| 19:4446409:CGGAC:C | acceptor_gain | 1.0000 |
| 19:4446412:ACCTG:A | acceptor_loss | 1.0000 |
| 19:4446414:C:CC | acceptor_gain | 1.0000 |
| 19:4446414:CTGC:C | acceptor_loss | 1.0000 |
| 19:4446495:CCCA:C | donor_loss | 1.0000 |
AlphaMissense
2859 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:4446868:A:G | F223S | 0.995 |
| 19:4447575:A:G | I197T | 0.995 |
| 19:4446867:G:C | F223L | 0.994 |
| 19:4446867:G:T | F223L | 0.994 |
| 19:4446869:A:G | F223L | 0.994 |
| 19:4446916:C:G | R207P | 0.992 |
| 19:4447575:A:C | I197S | 0.992 |
| 19:4447584:T:G | Y194S | 0.992 |
| 19:4447585:A:C | Y194D | 0.992 |
| 19:4447624:A:G | Y181H | 0.992 |
| 19:4446190:G:C | F353L | 0.991 |
| 19:4446190:G:T | F353L | 0.991 |
| 19:4446192:A:G | F353L | 0.991 |
| 19:4447624:A:C | Y181D | 0.991 |
| 19:4446152:A:T | V366D | 0.990 |
| 19:4446366:C:G | R323P | 0.988 |
| 19:4447585:A:G | Y194H | 0.988 |
| 19:4446899:C:G | G213R | 0.987 |
| 19:4446899:C:T | G213R | 0.987 |
| 19:4447554:A:G | F204S | 0.987 |
| 19:4447571:C:A | K198N | 0.986 |
| 19:4447571:C:G | K198N | 0.986 |
| 19:4446191:A:G | F353S | 0.985 |
| 19:4446878:C:G | A220P | 0.985 |
| 19:4446886:A:G | F217S | 0.985 |
| 19:4447553:A:C | F204L | 0.985 |
| 19:4447553:A:T | F204L | 0.985 |
| 19:4447555:A:G | F204L | 0.985 |
| 19:4447573:T:C | K198E | 0.985 |
| 19:4447620:A:G | L182P | 0.985 |
dbSNP variants (sampled 300 via entrez): RS1000017959 (19:4448271 G>A), RS1000034734 (19:4444649 T>C), RS1000147570 (19:4444820 C>A), RS1000308323 (19:4454832 G>A,C), RS1000317189 (19:4448149 C>T), RS1000481626 (19:4459634 G>C), RS1000484037 (19:4445705 G>A,C), RS1000659050 (19:4454673 C>T), RS1001085082 (19:4451140 T>A), RS1001133208 (19:4458145 A>C), RS1001305564 (19:4447226 T>C), RS1001372856 (19:4452056 C>A,G,T), RS1001418988 (19:4457912 G>A,T), RS1001426596 (19:4452377 T>C,G), RS1001597251 (19:4447891 C>G,T)
Disease associations
OMIM: gene MIM:611946 | 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 |
|---|---|---|
| GCST005668_2 | Delta-5 desaturase activity response to n3-polyunsaturated fat supplement | 6.000000e-09 |
| GCST009597_134 | Multiple sclerosis | 6.000000e-09 |
| GCST90002403_273 | Red blood cell count | 1.000000e-10 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007764 | delta-5 desaturase measurement |
| EFO:0009131 | response to polyunsaturated fatty acid supplementation |
| EFO:0004305 | erythrocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, decreases expression, increases expression | 3 |
| bisphenol S | decreases methylation, affects cotreatment, decreases expression | 2 |
| Smoke | increases abundance, increases expression, decreases expression | 2 |
| Tobacco Smoke Pollution | affects expression, decreases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| lead acetate | affects cotreatment, decreases expression | 1 |
| manganese chloride | decreases expression, increases abundance | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| beta-methylcholine | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Temozolomide | decreases expression | 1 |
| Decitabine | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | increases expression, increases abundance | 1 |
| Arsenic | affects reaction, increases degradation | 1 |
| Caffeine | increases phosphorylation | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | decreases expression | 1 |
| Gallic Acid | increases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Manganese | decreases expression, increases abundance | 1 |
| Methapyrilene | increases methylation | 1 |
| Rotenone | decreases expression | 1 |
| Selenium | increases expression | 1 |
| Tretinoin | increases expression | 1 |
| Valproic Acid | affects expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3KP | Abcam HEK293T UBXN6 KO | Transformed cell line | Female |
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.