UBXN2B
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Also known as p37
Summary
UBXN2B (UBX domain protein 2B, HGNC:27035) is a protein-coding gene on chromosome 8q12.1, encoding UBX domain-containing protein 2B (Q14CS0). Adapter protein required for Golgi and endoplasmic reticulum biogenesis.
Predicted to enable ubiquitin binding activity. Involved in establishment of mitotic spindle orientation; negative regulation of protein localization to centrosome; and positive regulation of mitotic centrosome separation. Predicted to be located in Golgi apparatus; endoplasmic reticulum; and spindle pole centrosome. Predicted to be active in cytosol and nucleus.
Source: NCBI Gene 137886 — RefSeq curated summary.
At a glance
- GWAS associations: 25
- Clinical variants (ClinVar): 50 total
- MANE Select transcript:
NM_001077619
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:27035 |
| Approved symbol | UBXN2B |
| Name | UBX domain protein 2B |
| Location | 8q12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | p37 |
| Ensembl gene | ENSG00000215114 |
| Ensembl biotype | protein_coding |
| OMIM | 610686 |
| Entrez | 137886 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 10 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000399598, ENST00000520732, ENST00000521796, ENST00000522978, ENST00000523409, ENST00000879980, ENST00000879981, ENST00000920600, ENST00000920601, ENST00000920602, ENST00000920603, ENST00000970427, ENST00000970428
RefSeq mRNA: 3 — MANE Select: NM_001077619
NM_001077619, NM_001330535, NM_001363181
CCDS: CCDS43741, CCDS83297
Canonical transcript exons
ENST00000399598 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001539267 | 58447389 | 58451501 |
| ENSE00001539291 | 58411361 | 58411469 |
| ENSE00003470655 | 58416850 | 58416953 |
| ENSE00003558345 | 58445907 | 58446068 |
| ENSE00003594189 | 58434395 | 58434504 |
| ENSE00003599251 | 58439633 | 58439770 |
| ENSE00003625167 | 58430519 | 58430669 |
| ENSE00003671774 | 58433160 | 58433243 |
Expression profiles
Bgee: expression breadth ubiquitous, 292 present calls, max score 95.58.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.9297 / max 517.3836, expressed in 1754 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 88987 | 15.9297 | 1754 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 95.58 | gold quality |
| blood | UBERON:0000178 | 93.82 | gold quality |
| ganglionic eminence | UBERON:0004023 | 92.99 | gold quality |
| monocyte | CL:0000576 | 92.73 | gold quality |
| mononuclear cell | CL:0000842 | 92.66 | gold quality |
| leukocyte | CL:0000738 | 92.45 | gold quality |
| embryo | UBERON:0000922 | 91.92 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 91.31 | gold quality |
| ventricular zone | UBERON:0003053 | 90.30 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 89.98 | gold quality |
| heart right ventricle | UBERON:0002080 | 88.97 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 88.96 | gold quality |
| seminal vesicle | UBERON:0000998 | 88.92 | gold quality |
| bone marrow | UBERON:0002371 | 88.59 | gold quality |
| bone marrow cell | CL:0002092 | 88.53 | gold quality |
| entorhinal cortex | UBERON:0002728 | 88.51 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 88.46 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 88.42 | gold quality |
| parotid gland | UBERON:0001831 | 88.40 | gold quality |
| primary visual cortex | UBERON:0002436 | 88.28 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 88.22 | gold quality |
| tibia | UBERON:0000979 | 88.05 | gold quality |
| adrenal tissue | UBERON:0018303 | 88.01 | gold quality |
| biceps brachii | UBERON:0001507 | 87.83 | gold quality |
| adult organism | UBERON:0007023 | 87.57 | gold quality |
| occipital lobe | UBERON:0002021 | 87.41 | gold quality |
| postcentral gyrus | UBERON:0002581 | 87.40 | gold quality |
| blood vessel layer | UBERON:0004797 | 87.33 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 87.28 | gold quality |
| corpus callosum | UBERON:0002336 | 87.26 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.53 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
206 targeting UBXN2B, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
Literature-anchored findings (GeneRIF, showing 3)
- these results demonstrate that p37 phosphorylation on Serine-56 and Threonine-59 is important for Golgi disassembly at mitosis. (PMID:20875789)
- human p37/p47 and their C. elegans orthologue UBXN-2 regulate centrosome function in prophase by limiting the recruitment of Aurora A (PMID:23649807)
- In silico prediction, characterization, docking studies and molecular dynamics simulation of human p97 in complex with p37 cofactor. (PMID:36088301)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Ubxn2b | ENSMUSG00000028243 |
| rattus_norvegicus | Ubxn2b | ENSRNOG00000064562 |
| drosophila_melanogaster | p47 | FBGN0033179 |
| drosophila_melanogaster | CG42383 | FBGN0259729 |
| caenorhabditis_elegans | WBGENE00022381 |
Paralogs (3): NSFL1C (ENSG00000088833), UBXN11 (ENSG00000158062), UBXN2A (ENSG00000173960)
Protein
Protein identifiers
UBX domain-containing protein 2B — Q14CS0 (reviewed: Q14CS0)
Alternative names: NSFL1 cofactor p37, p97 cofactor p37
All UniProt accessions (4): E5RGJ4, E5RJ36, Q14CS0, H0YAX6
UniProt curated annotations — full annotation on UniProt →
Function. Adapter protein required for Golgi and endoplasmic reticulum biogenesis. Involved in Golgi and endoplasmic reticulum maintenance during interphase and in their reassembly at the end of mitosis. The complex formed with VCP has membrane fusion activity; membrane fusion activity requires USO1-GOLGA2 tethering and BET1L. VCPIP1 is also required, but not its deubiquitinating activity. Together with NSFL1C/p47, regulates the centrosomal levels of kinase AURKA/Aurora A during mitotic progression by promoting AURKA removal from centrosomes in prophase. Also, regulates spindle orientation during mitosis.
Subunit / interactions. Interacts with VCP. Does not bind ubiquitin.
Subcellular location. Nucleus. Cytoplasm. Cytosol. Endoplasmic reticulum. Golgi apparatus. Cytoskeleton. Microtubule organizing center. Centrosome.
Similarity. Belongs to the NSFL1C family.
RefSeq proteins (3): NP_001071087, NP_001317464, NP_001350110 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001012 | UBX_dom | Domain |
| IPR012989 | SEP_domain | Domain |
| IPR029071 | Ubiquitin-like_domsf | Homologous_superfamily |
| IPR036241 | NSFL1C_SEP_dom_sf | Homologous_superfamily |
Pfam: PF00789, PF08059
UniProt features (13 total): modified residue 7, domain 2, region of interest 2, initiator methionine 1, chain 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8B5R | ELECTRON MICROSCOPY | 6.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q14CS0-F1 | 70.84 | 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 (7): 231, 234, 235, 2, 56, 59, 66
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 186 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE45365_NK_CELL_VS_CD11B_DC_UP, GOBP_ESTABLISHMENT_OF_SPINDLE_ORIENTATION, GOBP_PROTEIN_LOCALIZATION_TO_CYTOSKELETON, GOBP_NUCLEAR_MEMBRANE_REASSEMBLY, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, GOBP_VACUOLE_ORGANIZATION, GOBP_MEMBRANE_BIOGENESIS, GOBP_SPINDLE_LOCALIZATION, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GOBP_MEMBRANE_FUSION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_LOCALIZATION
GO Biological Process (8): autophagosome assembly (GO:0000045), establishment of mitotic spindle orientation (GO:0000132), Golgi organization (GO:0007030), nuclear membrane reassembly (GO:0031468), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), positive regulation of mitotic centrosome separation (GO:0046604), membrane fusion (GO:0061025), negative regulation of protein localization to centrosome (GO:1904780)
GO Molecular Function (2): ubiquitin binding (GO:0043130), protein binding (GO:0005515)
GO Cellular Component (8): nucleus (GO:0005634), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), cytosol (GO:0005829), spindle pole centrosome (GO:0031616), cytoplasm (GO:0005737), centrosome (GO:0005813), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular membrane-bounded organelle | 3 |
| cytoplasm | 3 |
| endomembrane system | 2 |
| cellular anatomical structure | 2 |
| Atg12 activating enzyme activity | 1 |
| protein-phosphatidylethanolamide deconjugating activity | 1 |
| Atg12 conjugating enzyme activity | 1 |
| Atg12 ligase activity | 1 |
| organelle assembly | 1 |
| Atg1/ULK1 kinase complex assembly | 1 |
| autophagosome organization | 1 |
| mitotic cell cycle | 1 |
| establishment of mitotic spindle localization | 1 |
| establishment of spindle orientation | 1 |
| organelle organization | 1 |
| endomembrane system organization | 1 |
| membrane assembly | 1 |
| nuclear membrane organization | 1 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| mitotic centrosome separation | 1 |
| regulation of mitotic centrosome separation | 1 |
| positive regulation of cell cycle process | 1 |
| membrane organization | 1 |
| protein localization to centrosome | 1 |
| negative regulation of protein localization | 1 |
| regulation of protein localization to centrosome | 1 |
| ubiquitin-like protein binding | 1 |
| binding | 1 |
| spindle pole | 1 |
| centrosome | 1 |
| intracellular anatomical structure | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
819 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| UBXN2B | FAM110B | Q8TC76 | 674 |
| UBXN2B | CDC42BPB | Q9Y5S2 | 641 |
| UBXN2B | UBXN10 | Q96LJ8 | 625 |
| UBXN2B | UBXN7 | O94888 | 605 |
| UBXN2B | UBXN1 | Q04323 | 598 |
| UBXN2B | UBXN6 | Q9BZV1 | 576 |
| UBXN2B | NSMAF | Q92636 | 565 |
| UBXN2B | UBXN11 | Q5T124 | 541 |
| UBXN2B | UBXN8 | O00124 | 535 |
| UBXN2B | NCKAP5L | Q9HCH0 | 532 |
| UBXN2B | ASPSCR1 | Q9BZE9 | 526 |
| UBXN2B | FAF2 | Q96CS3 | 514 |
| UBXN2B | FAF1 | Q9UNN5 | 510 |
| UBXN2B | UBXN4 | Q92575 | 478 |
| UBXN2B | NCKIPSD | Q9NZQ3 | 462 |
| UBXN2B | SYT5 | O00445 | 462 |
IntAct
74 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| VCP | UBXN2B | psi-mi:“MI:0915”(physical association) | 0.910 |
| UBXN2B | VCP | psi-mi:“MI:0915”(physical association) | 0.910 |
| UBXN2B | VCP | psi-mi:“MI:2364”(proximity) | 0.910 |
| VCP | UBXN2B | psi-mi:“MI:2364”(proximity) | 0.910 |
| UBXN2B | VCP | psi-mi:“MI:0914”(association) | 0.910 |
| NGLY1 | UBXN2B | psi-mi:“MI:0915”(physical association) | 0.780 |
| UBXN2B | NGLY1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| PPP1CC | CCDC85C | psi-mi:“MI:0914”(association) | 0.740 |
| UBXN2B | INCA1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| INCA1 | UBXN2B | psi-mi:“MI:0915”(physical association) | 0.720 |
| VCP | UBXN8 | psi-mi:“MI:0914”(association) | 0.690 |
| UBXN2B | VCF1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| UBXN2B | CRX | psi-mi:“MI:0915”(physical association) | 0.560 |
| MEOX1 | UBXN2B | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBXN2B | VAT1L | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBXN2B | MEOX1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (92): UBXN2B (Two-hybrid), UBXN2B (Two-hybrid), UBXN2B (Two-hybrid), UBXN2B (Two-hybrid), UBXN2B (Two-hybrid), INCA1 (Two-hybrid), VCP (Affinity Capture-MS), CDC42BPB (Affinity Capture-MS), NIF3L1 (Affinity Capture-MS), PPP1R7 (Affinity Capture-MS), PPP1R11 (Affinity Capture-MS), ASPSCR1 (Affinity Capture-MS), ACTR6 (Affinity Capture-MS), FAM104A (Affinity Capture-MS), UBXN2B (Affinity Capture-MS)
ESM2 similar proteins: A3KMI0, A8WZU5, A8XY47, A8XYX3, B3M268, D3ZID8, O14045, O15226, O42467, O49413, O59709, O93436, O94536, P0C627, P32524, P32783, P34223, P34511, P68543, P87143, P90740, Q09655, Q0KL01, Q0P3R5, Q14CS0, Q19546, Q23088, Q23541, Q3SWY8, Q5ZLK2, Q61T02, Q6CKI0, Q6P158, Q7Z478, Q8BY02, Q8STL3, Q8WT44, Q8WTJ4, Q96AP4, Q99KJ0
Diamond homologs: D3ZID8, O35987, P0C627, P34223, P68543, Q0KL01, Q0P3R5, Q14CS0, Q3SZC4, Q5RBG3, Q5ZK10, Q5ZLK2, Q7Y175, Q8RWU7, Q99KJ0, Q9CZ44, Q9SUG6, Q9UNZ2, Q9UT81, P0C8Q0, Q54BQ5, Q9N2W5, F4IXN6
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| UBXN2B | “down-regulates activity” | AURKA | binding |
| CDK1 | “down-regulates activity” | UBXN2B | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 29 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 |
|---|---|---|---|
| proteasome-mediated ubiquitin-dependent protein catabolic process | 5 | 10.0× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
50 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 38 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1709 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:58411427:G:GT | donor_gain | 1.0000 |
| 8:58411471:T:A | donor_loss | 1.0000 |
| 8:58413297:A:AG | acceptor_gain | 1.0000 |
| 8:58413298:G:GG | acceptor_gain | 1.0000 |
| 8:58413372:G:GG | donor_gain | 1.0000 |
| 8:58416848:A:AG | acceptor_gain | 1.0000 |
| 8:58416848:AGTT:A | acceptor_gain | 1.0000 |
| 8:58416848:AGTTG:A | acceptor_gain | 1.0000 |
| 8:58416849:G:GT | acceptor_gain | 1.0000 |
| 8:58416849:GTT:G | acceptor_gain | 1.0000 |
| 8:58416849:GTTG:G | acceptor_gain | 1.0000 |
| 8:58416849:GTTGG:G | acceptor_gain | 1.0000 |
| 8:58416949:CAACG:C | donor_gain | 1.0000 |
| 8:58416951:ACG:A | donor_gain | 1.0000 |
| 8:58416951:ACGG:A | donor_loss | 1.0000 |
| 8:58416952:CG:C | donor_gain | 1.0000 |
| 8:58416952:CGGT:C | donor_loss | 1.0000 |
| 8:58416953:GG:G | donor_gain | 1.0000 |
| 8:58416953:GGT:G | donor_loss | 1.0000 |
| 8:58416954:G:GG | donor_gain | 1.0000 |
| 8:58416954:GT:G | donor_loss | 1.0000 |
| 8:58416955:TAAGT:T | donor_loss | 1.0000 |
| 8:58433241:GAT:G | donor_gain | 1.0000 |
| 8:58434384:A:AG | acceptor_gain | 1.0000 |
| 8:58434385:T:G | acceptor_gain | 1.0000 |
| 8:58434501:GAGG:G | donor_gain | 1.0000 |
| 8:58434503:GG:G | donor_gain | 1.0000 |
| 8:58434504:GG:G | donor_gain | 1.0000 |
| 8:58434506:TAAGA:T | donor_loss | 1.0000 |
| 8:58443314:G:T | donor_gain | 1.0000 |
AlphaMissense
2157 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:58434416:T:A | W149R | 0.999 |
| 8:58434416:T:C | W149R | 0.999 |
| 8:58434426:G:A | G152D | 0.999 |
| 8:58434428:T:C | F153L | 0.999 |
| 8:58434429:T:C | F153S | 0.999 |
| 8:58434430:C:A | F153L | 0.999 |
| 8:58434430:C:G | F153L | 0.999 |
| 8:58434495:T:A | V175D | 0.999 |
| 8:58439742:T:C | F215L | 0.999 |
| 8:58439744:T:A | F215L | 0.999 |
| 8:58439744:T:G | F215L | 0.999 |
| 8:58434408:T:C | L146P | 0.998 |
| 8:58434431:A:C | S154R | 0.998 |
| 8:58434433:T:A | S154R | 0.998 |
| 8:58434433:T:G | S154R | 0.998 |
| 8:58434483:T:C | F171S | 0.998 |
| 8:58439641:C:G | P181R | 0.998 |
| 8:58446053:T:C | F273S | 0.998 |
| 8:58447400:T:A | V282D | 0.998 |
| 8:58434408:T:A | L146H | 0.997 |
| 8:58434418:G:C | W149C | 0.997 |
| 8:58434418:G:T | W149C | 0.997 |
| 8:58434425:G:C | G152R | 0.997 |
| 8:58434426:G:T | G152V | 0.997 |
| 8:58439641:C:A | P181H | 0.997 |
| 8:58434482:T:C | F171L | 0.996 |
| 8:58434484:T:A | F171L | 0.996 |
| 8:58434484:T:G | F171L | 0.996 |
| 8:58439640:C:A | P181T | 0.996 |
| 8:58439683:T:C | L195S | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000078717 (8:58432736 C>A,T), RS1000108107 (8:58438808 G>A,C), RS1000176613 (8:58416248 T>C), RS1000276657 (8:58419844 C>T), RS1000754239 (8:58423727 G>A), RS1000783343 (8:58414799 T>C), RS1000819579 (8:58413286 A>G), RS1000941753 (8:58417353 T>C), RS1001038791 (8:58444874 T>C), RS1001055990 (8:58434338 T>C), RS1001064104 (8:58434960 G>A), RS1001130702 (8:58415002 T>C), RS1001167808 (8:58447724 T>C), RS1001281562 (8:58412853 A>C,G,T), RS1001332748 (8:58440532 A>T)
Disease associations
OMIM: gene MIM:610686 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
25 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001909_2 | Narcolepsy with cataplexy | 1.000000e-07 |
| GCST003725_5 | Gallstone disease | 3.000000e-06 |
| GCST003771_14 | Loneliness | 5.000000e-06 |
| GCST003807_6 | Systolic blood pressure response to hydrochlorothiazide in hypertension | 7.000000e-06 |
| GCST006004_14 | Low density lipoprotein cholesterol levels | 9.000000e-09 |
| GCST006034_36 | Total cholesterol levels | 5.000000e-18 |
| GCST007931_72 | Medication use (HMG CoA reductase inhibitors) | 2.000000e-08 |
| GCST008074_61 | Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 5.000000e-06 |
| GCST008074_76 | Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 3.000000e-08 |
| GCST008076_42 | Triglyceride levels | 1.000000e-07 |
| GCST008077_18 | LDL cholesterol levels | 7.000000e-09 |
| GCST008077_64 | LDL cholesterol levels | 1.000000e-09 |
| GCST008078_3 | LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 2.000000e-23 |
| GCST008078_61 | LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 3.000000e-27 |
| GCST008079_10 | LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 3.000000e-25 |
| GCST008079_48 | LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 2.000000e-30 |
| GCST008079_92 | LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 1.000000e-06 |
| GCST008083_134 | Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 1.000000e-07 |
| GCST008083_53 | Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 2.000000e-06 |
| GCST008086_25 | LDL cholesterol levels in current drinkers | 1.000000e-13 |
| GCST008086_40 | LDL cholesterol levels in current drinkers | 4.000000e-13 |
| GCST008087_111 | Triglyceride levels in current drinkers | 8.000000e-06 |
| GCST008087_24 | Triglyceride levels in current drinkers | 2.000000e-08 |
| GCST011346_55 | Total cholesterol levels | 2.000000e-18 |
| GCST011347_32 | Low density lipoprotein cholesterol levels | 4.000000e-16 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007865 | loneliness measurement |
| EFO:0006944 | systolic blood pressure change measurement |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004574 | total cholesterol measurement |
| EFO:0009932 | HMG CoA reductase inhibitor use measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0004329 | alcohol drinking |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| lead acetate | decreases expression, affects cotreatment | 2 |
| sodium arsenite | affects cotreatment, decreases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| butyraldehyde | decreases expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| MT19c compound | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Testosterone | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| Vanadates | decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
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): gallstones, narcolepsy-cataplexy syndrome