UBXN7
gene geneOn this page
Also known as KIAA0794
Summary
UBXN7 (UBX domain protein 7, HGNC:29119) is a protein-coding gene on chromosome 3q29, encoding UBX domain-containing protein 7 (O94888). Ubiquitin-binding adapter that links a subset of NEDD8-associated cullin ring ligases (CRLs) to the segregase VCP/p97, to regulate turnover of their ubiquitination substrates.
Enables RNA polymerase II-specific DNA-binding transcription factor binding activity; ubiquitin binding activity; and ubiquitin protein ligase binding activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Located in nucleoplasm. Part of VCP-NPL4-UFD1 AAA ATPase complex.
Source: NCBI Gene 26043 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 42 total
- MANE Select transcript:
NM_015562
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29119 |
| Approved symbol | UBXN7 |
| Name | UBX domain protein 7 |
| Location | 3q29 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0794 |
| Ensembl gene | ENSG00000163960 |
| Ensembl biotype | protein_coding |
| OMIM | 616379 |
| Entrez | 26043 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 7 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000296328, ENST00000381887, ENST00000413584, ENST00000428095, ENST00000429160, ENST00000493566, ENST00000897727, ENST00000897728, ENST00000938274
RefSeq mRNA: 1 — MANE Select: NM_015562
NM_015562
CCDS: CCDS43191
Canonical transcript exons
ENST00000296328 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001265446 | 196347662 | 196356846 |
| ENSE00001747224 | 196391813 | 196391925 |
| ENSE00003528738 | 196402952 | 196403019 |
| ENSE00003553873 | 196407246 | 196407393 |
| ENSE00003595619 | 196432327 | 196432427 |
| ENSE00003600928 | 196393554 | 196393619 |
| ENSE00004035133 | 196371896 | 196372042 |
| ENSE00004035135 | 196362294 | 196362687 |
| ENSE00004035136 | 196368028 | 196368155 |
| ENSE00004035137 | 196369421 | 196369511 |
| ENSE00004035138 | 196361844 | 196361923 |
Expression profiles
Bgee: expression breadth ubiquitous, 287 present calls, max score 91.78.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.9351 / max 348.1546, expressed in 1811 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 46352 | 27.4849 | 1810 |
| 203077 | 0.4502 | 233 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endometrium epithelium | UBERON:0004811 | 91.78 | gold quality |
| colonic epithelium | UBERON:0000397 | 91.68 | gold quality |
| nipple | UBERON:0002030 | 91.61 | gold quality |
| sperm | CL:0000019 | 91.31 | gold quality |
| cranial nerve II | UBERON:0000941 | 90.99 | gold quality |
| cartilage tissue | UBERON:0002418 | 90.20 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 89.86 | gold quality |
| cortical plate | UBERON:0005343 | 89.71 | gold quality |
| hair follicle | UBERON:0002073 | 89.70 | gold quality |
| corpus epididymis | UBERON:0004359 | 89.64 | gold quality |
| sural nerve | UBERON:0015488 | 89.63 | gold quality |
| mammary duct | UBERON:0001765 | 89.51 | gold quality |
| calcaneal tendon | UBERON:0003701 | 89.47 | gold quality |
| ganglionic eminence | UBERON:0004023 | 89.44 | gold quality |
| ventricular zone | UBERON:0003053 | 89.19 | gold quality |
| caput epididymis | UBERON:0004358 | 89.06 | gold quality |
| endothelial cell | CL:0000115 | 88.96 | gold quality |
| male germ cell | CL:0000015 | 88.80 | gold quality |
| corpus callosum | UBERON:0002336 | 88.52 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 88.43 | gold quality |
| paraflocculus | UBERON:0005351 | 88.34 | gold quality |
| cauda epididymis | UBERON:0004360 | 88.05 | gold quality |
| buccal mucosa cell | CL:0002336 | 87.67 | gold quality |
| adrenal tissue | UBERON:0018303 | 87.17 | gold quality |
| bone marrow cell | CL:0002092 | 86.97 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 86.78 | gold quality |
| tonsil | UBERON:0002372 | 86.68 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.54 | gold quality |
| saphenous vein | UBERON:0007318 | 86.29 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 85.99 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 5.58 |
| E-HCAD-5 | no | 2.20 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
162 targeting UBXN7, 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-98-3P | 100.00 | 74.08 | 3907 |
| 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| 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-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
Literature-anchored findings (GeneRIF, showing 9)
- UBXD7 links p97 to the ubiquitin ligase CUL2/VHL and its substrate hypoxia-inducible factor 1alpha (HIF1alpha). (PMID:18775313)
- FAF1 and UBXD7 only bind to p97-UFD1/NPL4, but not free p97, thus demonstrating for the first time a hierarchy in p97-cofactor interactions (PMID:21645854)
- Study finds that UBXN7 over-expression converts CUL2 to its neddylated form and causes the accumulation of non-ubiquitylated HIF1alpha. (PMID:22537386)
- Data suggest that dimerization of UBX domain protein 7 (UBXD7) could affect the formation of the p97 ATPase-UBXD7 complex. (PMID:28274878)
- [Circular RNA-UBXN7 promotes proliferation, migration and suppresses apoptosis in hepatocellular cancer]. (PMID:32536059)
- UBXN7 cofactor of CRL3(KEAP1) and CRL2(VHL) ubiquitin ligase complexes mediates reciprocal regulation of NRF2 and HIF-1alpha proteins. (PMID:33444648)
- HBV X Protein Induces Degradation of UBXN7, a Novel Negative Regulator of NF-kappaB Signaling, to Promote HBV Replication. (PMID:36096451)
- CircUBXN7 suppresses cell proliferation and facilitates cell apoptosis in lipopolysaccharide-induced cell injury by sponging miR-622 and regulating the IL6ST/JAK1/STAT3 axis. (PMID:36257578)
- CircUBXN7 promotes macrophage infiltration and renal fibrosis associated with the IGF2BP2-dependent SP1 mRNA stability in diabetic kidney disease. (PMID:37744330)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ubxn7 | ENSDARG00000009436 |
| mus_musculus | Ubxn7 | ENSMUSG00000053774 |
| rattus_norvegicus | AABR07034438.1 | ENSRNOG00000046969 |
Paralogs (4): UBXN8 (ENSG00000104691), FAF2 (ENSG00000113194), UBXN10 (ENSG00000162543), FAF1 (ENSG00000185104)
Protein
Protein identifiers
UBX domain-containing protein 7 — O94888 (reviewed: O94888)
All UniProt accessions (5): C9JAT7, C9JD50, O94888, F8WB69, H7BYF4
UniProt curated annotations — full annotation on UniProt →
Function. Ubiquitin-binding adapter that links a subset of NEDD8-associated cullin ring ligases (CRLs) to the segregase VCP/p97, to regulate turnover of their ubiquitination substrates.
Subunit / interactions. Interacts with neddylated CUL2, ubiquitinated HIF1A, and VCP/p97.
Subcellular location. Nucleus.
Domain organisation. The UIM (ubiquitin-interacting motif) is required to engage the NEDD8 modification on cullins. The UBX domain mediates interaction with VCP/p97. The UBA domain is required for binding ubiquitinated-protein substrates.
RefSeq proteins (1): NP_056377* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001012 | UBX_dom | Domain |
| IPR006577 | UAS | Domain |
| IPR009060 | UBA-like_sf | Homologous_superfamily |
| IPR017346 | UBX_7/2 | Family |
| IPR029071 | Ubiquitin-like_domsf | Homologous_superfamily |
| IPR036249 | Thioredoxin-like_sf | Homologous_superfamily |
| IPR050730 | UBX_domain-protein | Family |
| IPR054109 | UBA_8 | Domain |
Pfam: PF00789, PF13899, PF22566
UniProt features (49 total): helix 11, strand 9, turn 7, modified residue 6, cross-link 3, mutagenesis site 3, domain 3, compositionally biased region 3, region of interest 2, initiator methionine 1, chain 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5X3P | X-RAY DIFFRACTION | 2 |
| 5X4L | X-RAY DIFFRACTION | 2.4 |
| 1WJ4 | SOLUTION NMR | |
| 2DAL | SOLUTION NMR | |
| 2DLX | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O94888-F1 | 73.78 | 0.44 |
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 (9): 2, 278, 280, 285, 288, 306, 84, 99, 134
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 288 | no effect on interactions with cul2 and hif1a. |
| 297 | severely reduces interaction with neddylated cul2. |
| 459 | abolishes interaction with vcp/p97. |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-8951664 | Neddylation |
| R-HSA-9755511 | KEAP1-NFE2L2 pathway |
MSigDB gene sets: 119 (showing top):
BORCZUK_MALIGNANT_MESOTHELIOMA_UP, DACOSTA_UV_RESPONSE_VIA_ERCC3_XPCS_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, BACOLOD_RESISTANCE_TO_ALKYLATING_AGENTS_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_TTD_DN, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, BOYAULT_LIVER_CANCER_SUBCLASS_G1_UP, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, GOBP_PROTEIN_CATABOLIC_PROCESS, NUYTTEN_EZH2_TARGETS_DN, MORF_RFC1, GOCC_ATPASE_COMPLEX, GOCC_MEMBRANE_PROTEIN_COMPLEX, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOBP_PROTEOLYSIS
GO Biological Process (1): proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)
GO Molecular Function (4): ubiquitin protein ligase binding (GO:0031625), ubiquitin binding (GO:0043130), RNA polymerase II-specific DNA-binding transcription factor binding (GO:0061629), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), VCP-NPL4-UFD1 AAA ATPase complex (GO:0034098)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
| Cellular response to chemical stress | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| ubiquitin-like protein ligase binding | 1 |
| ubiquitin-like protein binding | 1 |
| DNA-binding transcription factor binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| endoplasmic reticulum membrane | 1 |
| UFD1-NPL4 complex | 1 |
| membrane protein complex | 1 |
| endoplasmic reticulum protein-containing complex | 1 |
Protein interactions and networks
STRING
3271 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| UBXN7 | UFD1 | Q92890 | 827 |
| UBXN7 | NPLOC4 | Q8TAT6 | 812 |
| UBXN7 | FAF2 | Q96CS3 | 801 |
| UBXN7 | UBXN1 | Q04323 | 745 |
| UBXN7 | UBXN6 | Q9BZV1 | 744 |
| UBXN7 | WDR53 | Q7Z5U6 | 736 |
| UBXN7 | VCP | P55072 | 722 |
| UBXN7 | UBXN2A | P68543 | 710 |
| UBXN7 | CUL2 | Q13617 | 690 |
| UBXN7 | SMCO1 | Q147U7 | 690 |
| UBXN7 | UBXN10 | Q96LJ8 | 648 |
| UBXN7 | UBXN8 | O00124 | 646 |
| UBXN7 | ASPSCR1 | Q9BZE9 | 624 |
| UBXN7 | UBXN4 | Q92575 | 620 |
| UBXN7 | UBXN2B | Q14CS0 | 605 |
IntAct
130 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| UBXN7 | VCP | psi-mi:“MI:0915”(physical association) | 0.820 |
| UBXN7 | VCP | psi-mi:“MI:0914”(association) | 0.820 |
| VCP | UBXN7 | psi-mi:“MI:0914”(association) | 0.820 |
| UBXN7 | CUL2 | psi-mi:“MI:0914”(association) | 0.710 |
| UBXN7 | CUL2 | psi-mi:“MI:0915”(physical association) | 0.710 |
| CUL2 | UBXN7 | psi-mi:“MI:0914”(association) | 0.710 |
| TGIF2LY | PGP | psi-mi:“MI:0914”(association) | 0.640 |
| NUAK2 | PPP1R12A | psi-mi:“MI:0914”(association) | 0.640 |
| UBXN7 | CUL4A | psi-mi:“MI:0915”(physical association) | 0.620 |
| UBXN7 | CUL3 | psi-mi:“MI:0915”(physical association) | 0.620 |
| CUL4A | UBXN7 | psi-mi:“MI:0914”(association) | 0.620 |
| UBXN7 | psi-mi:“MI:0407”(direct interaction) | 0.590 | |
| UBXN7 | psi-mi:“MI:0914”(association) | 0.590 |
BioGRID (371): UBC (Affinity Capture-Western), UBC (Reconstituted Complex), VCP (Affinity Capture-Western), UBC (Affinity Capture-Western), CUL2 (Reconstituted Complex), UBXN7 (Biochemical Activity), UBXN7 (Affinity Capture-MS), UBXN7 (Affinity Capture-MS), UBXN7 (Affinity Capture-Western), UBXN7 (Affinity Capture-Western), UBXN7 (Affinity Capture-Western), ACAD11 (Affinity Capture-Western), ERCC3 (Affinity Capture-Western), CSNK1G3 (Affinity Capture-Western), UBXN7 (Affinity Capture-Western)
ESM2 similar proteins: A4FUF0, A4Q9F4, D2XV59, E1C1R4, O94888, O95267, P42694, P54198, P79987, Q15139, Q49A26, Q4R8V9, Q4SS66, Q562D5, Q5R372, Q5R5M3, Q5R7T2, Q5RDU9, Q5REY7, Q5RKH0, Q5RKN4, Q5T6S3, Q5ZIA0, Q5ZJ17, Q5ZLS2, Q5ZLS7, Q61666, Q62101, Q6DC64, Q6DFV5, Q6P5G6, Q6ZPY2, Q6ZWH5, Q70Z35, Q75Q39, Q80VL1, Q86W50, Q8BY87, Q8BYN5, Q8CIW5
Diamond homologs: O14048, O94888, P0DKI5, Q06682, Q55BU7, Q5REY7, Q6P5G6, P0DKI4, P54731, Q924K2, Q94HV8, Q94JZ8, Q9M0N1, Q9UNN5, Q9LUG7, O00124, F4JPR7, O74498, Q3TDN2, Q5BK32, Q6AZH6, Q6GQ69, Q9C5G7, Q4V3D3
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 73 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 |
|---|---|---|---|
| Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha | 5 | 24.0× | 2e-04 |
| KEAP1-NFE2L2 pathway | 5 | 14.7× | 1e-03 |
| Neddylation | 12 | 13.9× | 9e-09 |
| Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide | 5 | 13.0× | 2e-03 |
| Cargo recognition for clathrin-mediated endocytosis | 5 | 12.8× | 2e-03 |
| Antigen processing: Ubiquitination & Proteasome degradation | 10 | 9.1× | 2e-05 |
| Ub-specific processing proteases | 6 | 7.8× | 4e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of protein ubiquitination | 5 | 18.4× | 8e-04 |
| G1/S transition of mitotic cell cycle | 5 | 17.3× | 9e-04 |
| ubiquitin-dependent protein catabolic process | 9 | 11.5× | 2e-05 |
| protein polyubiquitination | 5 | 9.9× | 5e-03 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 11 | 9.9× | 6e-06 |
| protein ubiquitination | 11 | 7.8× | 2e-05 |
| positive regulation of canonical NF-kappaB signal transduction | 6 | 7.5× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
42 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 34 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2298 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:196351410:T:A | donor_gain | 1.0000 |
| 3:196356695:T:TA | donor_gain | 1.0000 |
| 3:196356771:T:A | donor_gain | 1.0000 |
| 3:196361836:GTACT:G | donor_loss | 1.0000 |
| 3:196361837:TACTT:T | donor_loss | 1.0000 |
| 3:196361838:ACT:A | donor_loss | 1.0000 |
| 3:196361839:CTTAC:C | donor_loss | 1.0000 |
| 3:196361840:TTAC:T | donor_loss | 1.0000 |
| 3:196361842:A:AC | donor_gain | 1.0000 |
| 3:196361842:ACTAG:A | donor_gain | 1.0000 |
| 3:196361843:C:A | donor_loss | 1.0000 |
| 3:196361843:C:CA | donor_gain | 1.0000 |
| 3:196361843:CT:C | donor_gain | 1.0000 |
| 3:196361843:CTA:C | donor_gain | 1.0000 |
| 3:196361843:CTAG:C | donor_gain | 1.0000 |
| 3:196361843:CTAGC:C | donor_gain | 1.0000 |
| 3:196361922:TC:T | acceptor_gain | 1.0000 |
| 3:196361923:CC:C | acceptor_gain | 1.0000 |
| 3:196361924:C:A | acceptor_loss | 1.0000 |
| 3:196361924:C:CC | acceptor_gain | 1.0000 |
| 3:196361937:T:C | acceptor_gain | 1.0000 |
| 3:196361937:T:TC | acceptor_gain | 1.0000 |
| 3:196362289:CTTA:C | donor_loss | 1.0000 |
| 3:196362290:TTA:T | donor_loss | 1.0000 |
| 3:196362291:TAC:T | donor_loss | 1.0000 |
| 3:196362292:AC:A | donor_gain | 1.0000 |
| 3:196362293:CC:C | donor_gain | 1.0000 |
| 3:196362683:CTCTC:C | acceptor_gain | 1.0000 |
| 3:196362685:CTC:C | acceptor_gain | 1.0000 |
| 3:196362695:A:AC | acceptor_gain | 1.0000 |
AlphaMissense
3226 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:196356701:A:T | V485E | 1.000 |
| 3:196356703:A:C | F484L | 1.000 |
| 3:196356703:A:T | F484L | 1.000 |
| 3:196356705:A:G | F484L | 1.000 |
| 3:196356707:A:T | V483D | 1.000 |
| 3:196356725:A:G | L477P | 1.000 |
| 3:196356725:A:T | L477H | 1.000 |
| 3:196356767:A:G | L463S | 1.000 |
| 3:196356779:G:T | P459H | 1.000 |
| 3:196356780:G:A | P459S | 1.000 |
| 3:196356781:A:C | F458L | 1.000 |
| 3:196356781:A:T | F458L | 1.000 |
| 3:196356782:A:C | F458C | 1.000 |
| 3:196356782:A:G | F458S | 1.000 |
| 3:196356783:A:G | F458L | 1.000 |
| 3:196361899:C:G | R418P | 1.000 |
| 3:196362629:A:G | L298S | 1.000 |
| 3:196362632:G:A | S297F | 1.000 |
| 3:196362633:A:G | S297P | 1.000 |
| 3:196362636:C:G | A296P | 1.000 |
| 3:196362641:A:C | I294S | 1.000 |
| 3:196362641:A:G | I294T | 1.000 |
| 3:196362641:A:T | I294N | 1.000 |
| 3:196362644:G:T | A293D | 1.000 |
| 3:196362645:C:G | A293P | 1.000 |
| 3:196362648:C:G | A292P | 1.000 |
| 3:196362653:A:G | L290P | 1.000 |
| 3:196362655:C:A | Q289H | 1.000 |
| 3:196362655:C:G | Q289H | 1.000 |
| 3:196362672:C:G | A284P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000057824 (3:196381977 A>G), RS1000087217 (3:196394631 A>C), RS1000118607 (3:196421942 T>C), RS1000146078 (3:196349055 G>A), RS1000169263 (3:196412790 C>T), RS1000184046 (3:196369075 C>T), RS1000187431 (3:196398279 T>C), RS1000195240 (3:196412440 G>C), RS1000204283 (3:196410099 C>A,T), RS1000214077 (3:196408017 G>A), RS1000255057 (3:196400095 A>G,T), RS1000268423 (3:196418242 A>G), RS1000299764 (3:196404001 T>C), RS1000317426 (3:196405941 T>A,C), RS1000328789 (3:196404338 C>T)
Disease associations
OMIM: gene MIM:616379 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_159 | Obesity-related traits | 7.000000e-06 |
| GCST008575_9 | IgM levels | 2.000000e-12 |
| GCST010241_246 | Apolipoprotein A1 levels | 4.000000e-09 |
| GCST010242_385 | HDL cholesterol levels | 4.000000e-10 |
| GCST010988_223 | Adult body size | 2.000000e-10 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004338 | body weight |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases abundance, increases expression | 2 |
| GSK-J4 | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| bisphenol A | increases methylation | 1 |
| sodium arsenate | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| pentanal | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Drugs, Chinese Herbal | increases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Naphthoquinones | increases expression | 1 |
| Quercetin | increases phosphorylation | 1 |
| Urethane | increases 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.