ULBP3
geneOn this page
Also known as RAET1N
Summary
ULBP3 (UL16 binding protein 3, HGNC:14895) is a protein-coding gene on chromosome 6q25.1, encoding UL16-binding protein 3 (Q9BZM4). Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity.
The protein encoded by this gene is one of several related ligands of the KLRK1/NKG2D receptor, which is found in primary NK cells. Binding of these ligands to the receptor activates several signal transduction pathways, including the JAK2, STAT5, and ERK pathways. The encoded protein is expressed solubly and on the surface of many tumor cells, making it potentially an important target for therapeutics.
Source: NCBI Gene 79465 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 40 total
- MANE Select transcript:
NM_024518
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14895 |
| Approved symbol | ULBP3 |
| Name | UL16 binding protein 3 |
| Location | 6q25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RAET1N |
| Ensembl gene | ENSG00000131019 |
| Ensembl biotype | protein_coding |
| OMIM | 605699 |
| Entrez | 79465 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 3 protein_coding
ENST00000367339, ENST00000438272, ENST00000925509
RefSeq mRNA: 1 — MANE Select: NM_024518
NM_024518
CCDS: CCDS5225
Canonical transcript exons
ENST00000367339 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000896364 | 150065398 | 150065673 |
| ENSE00000896365 | 150065899 | 150066162 |
| ENSE00001444256 | 150061053 | 150063351 |
| ENSE00001444257 | 150068979 | 150069121 |
| ENSE00003676003 | 150064585 | 150064713 |
Expression profiles
Bgee: expression breadth ubiquitous, 180 present calls, max score 79.61.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.4856 / max 75.2944, expressed in 1202 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 76165 | 2.7060 | 1107 |
| 76166 | 0.7795 | 475 |
Top tissues by expression
245 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 79.61 | gold quality |
| kidney epithelium | UBERON:0004819 | 79.48 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 78.10 | silver quality |
| cartilage tissue | UBERON:0002418 | 76.71 | gold quality |
| stromal cell of endometrium | CL:0002255 | 76.49 | gold quality |
| gingival epithelium | UBERON:0001949 | 74.96 | gold quality |
| tibia | UBERON:0000979 | 74.38 | gold quality |
| cortical plate | UBERON:0005343 | 74.05 | gold quality |
| gingiva | UBERON:0001828 | 73.57 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 73.51 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 70.62 | silver quality |
| ventricular zone | UBERON:0003053 | 70.06 | gold quality |
| islet of Langerhans | UBERON:0000006 | 69.68 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 69.55 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 69.34 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 69.17 | gold quality |
| testis | UBERON:0000473 | 68.66 | gold quality |
| ganglionic eminence | UBERON:0004023 | 68.50 | gold quality |
| oral cavity | UBERON:0000167 | 68.42 | gold quality |
| metanephros | UBERON:0000081 | 68.17 | gold quality |
| parietal pleura | UBERON:0002400 | 66.78 | silver quality |
| myocardium | UBERON:0002349 | 66.46 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 66.46 | silver quality |
| visceral pleura | UBERON:0002401 | 66.41 | silver quality |
| jejunal mucosa | UBERON:0000399 | 66.24 | silver quality |
| left testis | UBERON:0004533 | 66.08 | gold quality |
| right testis | UBERON:0004534 | 66.03 | gold quality |
| pancreatic ductal cell | CL:0002079 | 65.66 | silver quality |
| tendon of biceps brachii | UBERON:0008188 | 65.54 | silver quality |
| right adrenal gland cortex | UBERON:0035827 | 65.11 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.07 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
95 targeting ULBP3, 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-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-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-520G-5P | 99.99 | 66.76 | 658 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
| HSA-MIR-454-3P | 99.91 | 74.01 | 1925 |
| HSA-MIR-6499-3P | 99.90 | 66.38 | 1212 |
| HSA-MIR-130A-3P | 99.90 | 73.31 | 1861 |
| HSA-MIR-130B-3P | 99.90 | 73.27 | 1850 |
Literature-anchored findings (GeneRIF, showing 12)
- ULBP3 binds to the NGK2D receptor and activates multiple signaling pathways in primary natural killer cells. (PMID:11777960)
- ULBPs and MICA are expressed in lipid rafts at the cell surface of NK and T cells. (PMID:15051759)
- As NKG2D ligand, ULBP3 are expressed on immature and mature dendritic cells and plays an important role in the cytotoxic effect of NK cells against iDC. (PMID:18394338)
- Vpr specifically induces surface expression of the unique-long 16 binding proteins (ULBP)-1 and ULBP-2, but not ULBP-3 (PMID:19798433)
- genetic polymorphism among the ethnic groups (PMID:20219610)
- Data show that UL142 prevents ULBP3 trafficking to the surface and protects transfected cells from NK-mediated cytotoxicity. (PMID:20530255)
- A miRNA of the human JC and BK polyoma viruses targets the stress-induced ligand ULBP3 to escape immune elimination. (PMID:21320692)
- A greater expression of ULBP3 has also been found in hair follicles in scalp biopsy specimens from patients with active disease (PMID:21689246)
- This study provides for the first time, the c-Myc dependent regulation of NKG2D ligands, ULBP1/2/3 in acute myeloid leukemia. (PMID:24677544)
- Varicella-Zoster Virus differentially modulates expression of the NKG2D ligands by upregulating MICA expression and reducing ULBP2 and ULBP3 expression in the infected cells. (PMID:25995251)
- this study shows an increase in ULBP3 level in alopecia areata incognita patients, which positively correlates with the age and duration of the disease (PMID:27142445)
- Unveiling the role of the KLF4/Lnc18q22.2/ULBP3 axis in the tumorigenesis and immune escape of hepatocellular carcinoma under hypoxic condition. (PMID:38780505)
Cross-species orthologs
12 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mhc1laa | ENSDARG00000016056 |
| danio_rerio | mhc1lba | ENSDARG00000016227 |
| danio_rerio | mhc1lda | ENSDARG00000023203 |
| danio_rerio | ENSDARG00000051710 | |
| danio_rerio | ENSDARG00000051711 | |
| danio_rerio | mhc1lfa | ENSDARG00000051712 |
| danio_rerio | mhc1lga | ENSDARG00000051713 |
| danio_rerio | mhc1lca | ENSDARG00000055813 |
| danio_rerio | mhc1lja | ENSDARG00000096830 |
| danio_rerio | si:dkey-52p2.5 | ENSDARG00000096940 |
| danio_rerio | mhc1lla | ENSDARG00000096977 |
| mus_musculus | Ulbp1 | ENSMUSG00000079685 |
Paralogs (22): HFE (ENSG00000010704), FCGRT (ENSG00000104870), ULBP1 (ENSG00000111981), ULBP2 (ENSG00000131015), MR1 (ENSG00000153029), RAET1L (ENSG00000155918), CD1D (ENSG00000158473), CD1A (ENSG00000158477), CD1C (ENSG00000158481), CD1B (ENSG00000158485), CD1E (ENSG00000158488), AZGP1 (ENSG00000160862), RAET1E (ENSG00000164520), RAET1G (ENSG00000203722), MICB (ENSG00000204516), MICA (ENSG00000204520), HLA-C (ENSG00000204525), HLA-E (ENSG00000204592), HLA-G (ENSG00000204632), HLA-F (ENSG00000204642), HLA-A (ENSG00000206503), HLA-B (ENSG00000234745)
Protein
Protein identifiers
UL16-binding protein 3 — Q9BZM4 (reviewed: Q9BZM4)
Alternative names: ALCAN-gamma, NKG2D ligand 3, Retinoic acid early transcript 1N
All UniProt accessions (1): Q9BZM4
UniProt curated annotations — full annotation on UniProt →
Function. Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity.
Subunit / interactions. Interacts with KLRK1/NKG2D. Does not bind to beta2-microglobulin. (Microbial infection) In CMV-infected cells, interacts with the viral glycoprotein UL16 and UL142; this interaction causes ULBP3 retention in the endoplasmic reticulum and cis-Golgi and prevents binding to and activation of KLRK1/NKG2D, providing CMV with an immune evasion mechanism.
Subcellular location. Cell membrane.
Miscellaneous. UL16-binding proteins (ULBPs) are unusual members of the extended MHC class I superfamily. They do not contain the alpha 3 domain and lack a transmembrane domain.
Similarity. Belongs to the MHC class I family.
RefSeq proteins (1): NP_078794* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011161 | MHC_I-like_Ag-recog | Domain |
| IPR011162 | MHC_I/II-like_Ag-recog | Homologous_superfamily |
| IPR037055 | MHC_I-like_Ag-recog_sf | Homologous_superfamily |
| IPR050208 | MHC_class-I_related | Family |
Pfam: PF00129
UniProt features (23 total): strand 7, helix 5, turn 2, region of interest 2, disulfide bond 2, signal peptide 1, chain 1, propeptide 1, lipid moiety-binding region 1, glycosylation site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1KCG | X-RAY DIFFRACTION | 2.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BZM4-F1 | 82.59 | 0.60 |
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): 217
Disulfide bonds (2): 51–67, 128–191
Glycosylation sites (1): 37
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-198933 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell |
MSigDB gene sets: 64 (showing top):
GOBP_POSITIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOCC_CELL_SURFACE, GOBP_LEUKOCYTE_MEDIATED_CYTOTOXICITY, GOBP_ANTIGEN_PROCESSING_AND_PRESENTATION_VIA_MHC_CLASS_IB, GOBP_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_POSITIVE_REGULATION_OF_T_CELL_MEDIATED_CYTOTOXICITY, chr6q25, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_LYMPHOCYTE_MEDIATED_IMMUNITY, GOBP_ANTIGEN_PROCESSING_AND_PRESENTATION, GOBP_REGULATION_OF_T_CELL_MEDIATED_CYTOTOXICITY
GO Biological Process (7): positive regulation of T cell mediated cytotoxicity (GO:0001916), antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476), antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent (GO:0002486), immune response (GO:0006955), natural killer cell activation (GO:0030101), natural killer cell mediated cytotoxicity (GO:0042267), immune system process (GO:0002376)
GO Molecular Function (2): natural killer cell lectin-like receptor binding (GO:0046703), protein binding (GO:0005515)
GO Cellular Component (5): obsolete extracellular space (GO:0005615), plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), membrane (GO:0016020), side of membrane (GO:0098552)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Adaptive Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| membrane | 2 |
| cellular anatomical structure | 2 |
| positive regulation of leukocyte mediated cytotoxicity | 1 |
| T cell mediated cytotoxicity | 1 |
| regulation of T cell mediated cytotoxicity | 1 |
| positive regulation of T cell mediated immunity | 1 |
| antigen processing and presentation of peptide antigen via MHC class Ib | 1 |
| antigen processing and presentation of endogenous peptide antigen | 1 |
| antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway | 1 |
| immune system process | 1 |
| response to stimulus | 1 |
| lymphocyte activation | 1 |
| leukocyte mediated cytotoxicity | 1 |
| natural killer cell mediated immunity | 1 |
| biological_process | 1 |
| signaling receptor binding | 1 |
| binding | 1 |
| cell periphery | 1 |
| plasma membrane | 1 |
| cell surface | 1 |
| side of membrane | 1 |
| leaflet of membrane bilayer | 1 |
Protein interactions and networks
STRING
600 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ULBP3 | KLRK1 | P26718 | 999 |
| ULBP3 | HCST | Q9UBK5 | 857 |
| ULBP3 | CD226 | Q15762 | 798 |
| ULBP3 | NCR3 | O14931 | 774 |
| ULBP3 | LILRB1 | Q8NHL6 | 755 |
| ULBP3 | CCR8 | P51685 | 717 |
| ULBP3 | NECTIN2 | Q92692 | 693 |
| ULBP3 | PVR | P15151 | 681 |
| ULBP3 | KLRD1 | Q13241 | 666 |
| ULBP3 | NCR1 | O76036 | 646 |
| ULBP3 | PRDX5 | P30044 | 642 |
| ULBP3 | B2M | P01884 | 617 |
| ULBP3 | NCR3LG1 | Q68D85 | 609 |
| ULBP3 | SLAMF6 | Q96DU3 | 595 |
| ULBP3 | STX17 | P56962 | 592 |
IntAct
88 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ULBP3 | KLRK1 | psi-mi:“MI:0407”(direct interaction) | 0.800 |
| KLRK1 | ULBP3 | psi-mi:“MI:0407”(direct interaction) | 0.800 |
| ULBP3 | KLRK1 | psi-mi:“MI:0915”(physical association) | 0.800 |
| TNFSF8 | TOR1B | psi-mi:“MI:0914”(association) | 0.640 |
| SLC39A5 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.640 |
| FOS | ULBP3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ULBP3 | UQCRC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC39A5 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM30B | KLRG2 | psi-mi:“MI:0914”(association) | 0.530 |
| GJB7 | PALM3 | psi-mi:“MI:0914”(association) | 0.530 |
| IL13RA2 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| ULBP1 | IGLL5 | psi-mi:“MI:0914”(association) | 0.530 |
| FCGRT | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| CD1B | TOR1B | psi-mi:“MI:0914”(association) | 0.530 |
| CCNL2 | ZBTB43 | psi-mi:“MI:0914”(association) | 0.530 |
| HLA-DPA1 | TYW5 | psi-mi:“MI:0914”(association) | 0.530 |
| IL27RA | B4GALT5 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (86): ULBP3 (Affinity Capture-MS), ULBP3 (Affinity Capture-MS), ULBP3 (Affinity Capture-MS), ULBP3 (Affinity Capture-MS), ULBP3 (Affinity Capture-MS), ULBP3 (Affinity Capture-MS), ULBP3 (Affinity Capture-MS), ULBP3 (Affinity Capture-MS), ULBP3 (Affinity Capture-MS), ULBP3 (Affinity Capture-MS), ULBP3 (Affinity Capture-MS), ULBP3 (Affinity Capture-MS), ULBP3 (Affinity Capture-MS), ULBP3 (Affinity Capture-MS), ULBP3 (Affinity Capture-MS)
ESM2 similar proteins: A0A0G2K7V7, C1ITJ8, O08602, O08603, O08604, O19477, O35799, P01901, P01902, P06339, P13599, P14427, P14432, P16391, P25311, P26151, P30383, P55899, P60018, P70387, Q01965, Q29980, Q29983, Q2KN22, Q30201, Q3B8P2, Q5RD09, Q60I18, Q61559, Q63678, Q64726, Q6H3X3, Q8HWB0, Q8HWE5, Q8HWE7, Q8SPV9, Q8VD31, Q920A9, Q95460, Q9BCU3
Diamond homologs: Q5VY80, Q6H3X3, Q8TD07, Q9BZM4, Q9BZM5, Q9BZM6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 109 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 |
|---|---|---|---|
| Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell | 9 | 11.4× | 3e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| immune response | 13 | 6.5× | 6e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
40 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 34 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
725 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:150068975:TCA:T | donor_loss | 1.0000 |
| 6:150068977:A:AG | donor_loss | 1.0000 |
| 6:150063353:T:C | acceptor_gain | 0.9900 |
| 6:150064584:CCTG:C | donor_gain | 0.9900 |
| 6:150064714:C:CC | acceptor_gain | 0.9900 |
| 6:150065393:GTTAC:G | donor_loss | 0.9900 |
| 6:150065394:TTACC:T | donor_loss | 0.9900 |
| 6:150065395:TACCT:T | donor_loss | 0.9900 |
| 6:150065396:ACCT:A | donor_loss | 0.9900 |
| 6:150065397:C:G | donor_loss | 0.9900 |
| 6:150068747:T:TA | donor_gain | 0.9900 |
| 6:150068972:AACT:A | donor_loss | 0.9900 |
| 6:150068973:ACT:A | donor_loss | 0.9900 |
| 6:150068977:A:AC | donor_gain | 0.9900 |
| 6:150068977:ACCGG:A | donor_gain | 0.9900 |
| 6:150068978:C:CC | donor_gain | 0.9900 |
| 6:150068978:CCGG:C | donor_gain | 0.9900 |
| 6:150068978:CCGGC:C | donor_gain | 0.9900 |
| 6:150063349:CACCT:C | acceptor_gain | 0.9800 |
| 6:150065419:T:TA | donor_gain | 0.9800 |
| 6:150065675:T:A | acceptor_loss | 0.9800 |
| 6:150065685:A:T | acceptor_gain | 0.9800 |
| 6:150063351:CCT:C | acceptor_gain | 0.9700 |
| 6:150063353:T:TC | acceptor_gain | 0.9700 |
| 6:150064579:CAGTA:C | donor_loss | 0.9700 |
| 6:150064580:AGTAC:A | donor_loss | 0.9700 |
| 6:150064581:GTACC:G | donor_loss | 0.9700 |
| 6:150064582:TACCT:T | donor_loss | 0.9700 |
| 6:150064583:ACCTG:A | donor_loss | 0.9700 |
| 6:150064584:C:CA | donor_loss | 0.9700 |
AlphaMissense
1613 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:150065600:G:C | F142L | 0.945 |
| 6:150065600:G:T | F142L | 0.945 |
| 6:150065602:A:G | F142L | 0.945 |
| 6:150065579:G:C | F149L | 0.924 |
| 6:150065579:G:T | F149L | 0.924 |
| 6:150065581:A:G | F149L | 0.924 |
| 6:150065551:A:G | W159R | 0.922 |
| 6:150065551:A:T | W159R | 0.922 |
| 6:150065570:A:C | F152L | 0.899 |
| 6:150065570:A:T | F152L | 0.899 |
| 6:150065572:A:G | F152L | 0.899 |
| 6:150066137:G:C | F38L | 0.885 |
| 6:150066137:G:T | F38L | 0.885 |
| 6:150066139:A:G | F38L | 0.885 |
| 6:150065549:C:A | W159C | 0.875 |
| 6:150065549:C:G | W159C | 0.875 |
| 6:150065507:C:A | W173C | 0.872 |
| 6:150065507:C:G | W173C | 0.872 |
| 6:150065608:A:G | W140R | 0.856 |
| 6:150065608:A:T | W140R | 0.856 |
| 6:150065594:G:C | F144L | 0.843 |
| 6:150065594:G:T | F144L | 0.843 |
| 6:150065596:A:G | F144L | 0.843 |
| 6:150066065:A:C | F62L | 0.838 |
| 6:150066065:A:T | F62L | 0.838 |
| 6:150066067:A:G | F62L | 0.838 |
| 6:150065432:G:C | F198L | 0.837 |
| 6:150065432:G:T | F198L | 0.837 |
| 6:150065434:A:G | F198L | 0.837 |
| 6:150065601:A:G | F142S | 0.835 |
dbSNP variants (sampled 300 via entrez): RS1000147474 (6:150062654 G>A), RS1000433503 (6:150062910 G>A), RS1001139093 (6:150063991 C>G,T), RS1001644508 (6:150068672 A>C), RS1002315060 (6:150065270 C>G,T), RS1002630883 (6:150069722 A>G), RS1002980490 (6:150061416 C>G,T), RS1003639549 (6:150070888 G>A), RS1003996753 (6:150062565 T>C,G), RS1004432917 (6:150068223 A>G), RS1004607548 (6:150067247 G>C), RS1004886153 (6:150068059 T>G), RS1005385323 (6:150063702 C>T), RS1006003392 (6:150065136 G>A), RS1006492536 (6:150069641 T>G)
Disease associations
OMIM: gene MIM:605699 | 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 |
|---|---|---|
| GCST000719_3 | Alopecia areata | 4.000000e-19 |
| GCST001818_3 | Metabolite levels (HVA/5-HIAA ratio) | 4.000000e-06 |
| GCST004866_2 | Alopecia areata | 6.000000e-24 |
| GCST012483_2 | Cerebral amyloid angiopathy in APOEe4 non-carrier Alzheimer’s disease | 4.000000e-06 |
| GCST012484_3 | Cerebral amyloid angiopathy x APOEe4 status interaction in Alzheimer’s disease | 5.000000e-07 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005131 | HVA measurement |
| EFO:0005132 | 5-HIAA measurement |
| EFO:0007659 | APOE carrier status |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
19 total (human), top 19 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 2 |
| Resveratrol | decreases reaction, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| abrine | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Arsenic | increases expression, affects cotreatment, increases abundance | 1 |
| Caffeine | decreases reaction, increases expression | 1 |
| Estradiol | increases expression | 1 |
| Hydrogen Peroxide | increases expression | 1 |
| Manganese | increases abundance, increases expression, affects cotreatment | 1 |
| Smoke | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B8AB | Abcam Raji ULBP3 KO | Cancer cell line | Male |
| CVCL_C0B6 | Abcam THP-1 ULBP3 KO | Cancer cell line | Male |
| CVCL_C7CU | Abcam PC-3 ULBP3 KO | Cancer cell line | Male |
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): alopecia areata, cerebral amyloid angiopathy