BTN3A3
geneOn this page
Also known as BTF3BTN3.3
Summary
BTN3A3 (butyrophilin subfamily 3 member A3, HGNC:1140) is a protein-coding gene on chromosome 6p22.2, encoding Butyrophilin subfamily 3 member A3 (O00478). Plays a role in T-cell responses in the adaptive immune response.
The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A3) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).
Source: NCBI Gene 10384 — RefSeq curated summary.
At a glance
- GWAS associations: 25
- Clinical variants (ClinVar): 165 total
- MANE Select transcript:
NM_006994
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1140 |
| Approved symbol | BTN3A3 |
| Name | butyrophilin subfamily 3 member A3 |
| Location | 6p22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | BTF3, BTN3.3 |
| Ensembl gene | ENSG00000111801 |
| Ensembl biotype | protein_coding |
| OMIM | 613595 |
| Entrez | 10384 |
Gene structure
Transcript identifiers
Ensembl transcripts: 29 — 23 protein_coding, 6 retained_intron
ENST00000244519, ENST00000361232, ENST00000467524, ENST00000471353, ENST00000474790, ENST00000477388, ENST00000480110, ENST00000482451, ENST00000483179, ENST00000487272, ENST00000487627, ENST00000490254, ENST00000494393, ENST00000496719, ENST00000497681, ENST00000878507, ENST00000878508, ENST00000878509, ENST00000878510, ENST00000878511, ENST00000878512, ENST00000878513, ENST00000878514, ENST00000878515, ENST00000878516, ENST00000949569, ENST00000949570, ENST00000949571, ENST00000949572
RefSeq mRNA: 3 — MANE Select: NM_006994
NM_001242803, NM_006994, NM_197974
CCDS: CCDS4611, CCDS4612
Canonical transcript exons
ENST00000244519 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001958420 | 26451675 | 26453415 |
| ENSE00001968864 | 26443382 | 26443442 |
| ENSE00001981559 | 26445704 | 26445985 |
| ENSE00002216638 | 26443570 | 26443659 |
| ENSE00003500939 | 26449662 | 26449688 |
| ENSE00003526098 | 26443957 | 26444304 |
| ENSE00003567268 | 26448728 | 26448754 |
| ENSE00003567887 | 26448617 | 26448637 |
| ENSE00003604511 | 26448248 | 26448448 |
| ENSE00003684154 | 26450107 | 26450133 |
| ENSE00003847502 | 26440504 | 26440648 |
Expression profiles
Bgee: expression breadth ubiquitous, 282 present calls, max score 97.16.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.4138 / max 210.1311, expressed in 1337 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 66527 | 8.4138 | 1337 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 97.16 | gold quality |
| spleen | UBERON:0002106 | 94.04 | gold quality |
| leukocyte | CL:0000738 | 93.61 | gold quality |
| monocyte | CL:0000576 | 93.46 | gold quality |
| mononuclear cell | CL:0000842 | 93.36 | gold quality |
| lymph node | UBERON:0000029 | 93.06 | gold quality |
| vermiform appendix | UBERON:0001154 | 91.87 | gold quality |
| gall bladder | UBERON:0002110 | 91.62 | gold quality |
| jejunal mucosa | UBERON:0000399 | 90.95 | gold quality |
| blood | UBERON:0000178 | 90.91 | gold quality |
| colonic epithelium | UBERON:0000397 | 90.68 | gold quality |
| caecum | UBERON:0001153 | 90.39 | gold quality |
| rectum | UBERON:0001052 | 90.25 | gold quality |
| right uterine tube | UBERON:0001302 | 90.06 | gold quality |
| right lung | UBERON:0002167 | 89.80 | gold quality |
| right adrenal gland | UBERON:0001233 | 89.68 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 89.08 | gold quality |
| apex of heart | UBERON:0002098 | 88.88 | gold quality |
| left adrenal gland | UBERON:0001234 | 88.74 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 88.67 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 88.42 | gold quality |
| superficial temporal artery | UBERON:0001614 | 88.39 | gold quality |
| adrenal gland | UBERON:0002369 | 88.33 | gold quality |
| adrenal cortex | UBERON:0001235 | 88.25 | gold quality |
| upper lobe of lung | UBERON:0008948 | 88.00 | gold quality |
| body of uterus | UBERON:0009853 | 87.73 | gold quality |
| lung | UBERON:0002048 | 87.39 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 87.31 | gold quality |
| small intestine | UBERON:0002108 | 87.02 | gold quality |
| parietal pleura | UBERON:0002400 | 86.82 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.61 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
43 targeting BTN3A3, 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-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-8062 | 99.88 | 68.43 | 995 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-383-3P | 99.85 | 65.84 | 1359 |
| HSA-MIR-130B-5P | 99.83 | 68.50 | 1888 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-6505-5P | 99.73 | 69.25 | 1595 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-4690-5P | 99.65 | 66.24 | 813 |
| HSA-MIR-488-3P | 99.61 | 68.79 | 1731 |
| HSA-MIR-3682-3P | 99.58 | 67.63 | 865 |
| HSA-MIR-3153 | 99.55 | 67.59 | 2337 |
| HSA-MIR-12132 | 99.47 | 68.90 | 1341 |
| HSA-MIR-569 | 99.42 | 66.32 | 1009 |
| HSA-MIR-4480 | 99.42 | 66.02 | 735 |
| HSA-MIR-888-5P | 99.30 | 70.15 | 1855 |
| HSA-MIR-3194-3P | 98.83 | 66.22 | 1167 |
| HSA-MIR-629-5P | 98.78 | 68.72 | 1032 |
| HSA-MIR-4703-5P | 98.53 | 70.13 | 1645 |
| HSA-MIR-3942-5P | 98.52 | 69.51 | 1517 |
| HSA-MIR-934 | 98.49 | 70.44 | 581 |
| HSA-MIR-640 | 98.44 | 66.93 | 644 |
| HSA-MIR-3691-3P | 97.90 | 65.97 | 791 |
Literature-anchored findings (GeneRIF, showing 3)
- This study identified that CGPs was found to significantly correlate with the differential expression and methylation of genes encoding butyrophilin, subfamily 3, member A3. (PMID:25243493)
- Macrophage-specific silencing of BTN3A3 in breast cancer cells decreased cancer stem cell frequency and tumor growth. Disruption of the LSECtin-BTN3A3 axis with BTN3A3-Fc or anti-BTN3A3 monoclonal antibodies has a therapeutic effect on breast cancer. (PMID:30858559)
- Identification of the BTN3A3 Gene as a Molecule Implicated in Generalized Pustular Psoriasis in a Chinese Population. (PMID:36804966)
Cross-species orthologs
0 orthologs
Paralogs (15): BTN3A1 (ENSG00000026950), CD276 (ENSG00000103855), BTN2A1 (ENSG00000112763), BTNL8 (ENSG00000113303), HHLA2 (ENSG00000114455), BTN2A2 (ENSG00000124508), BTN1A1 (ENSG00000124557), VTCN1 (ENSG00000134258), ICOSLG (ENSG00000160223), ERMAP (ENSG00000164010), BTNL9 (ENSG00000165810), BTNL3 (ENSG00000168903), BTN3A2 (ENSG00000186470), BTNL2 (ENSG00000204290), MOG (ENSG00000204655)
Protein
Protein identifiers
Butyrophilin subfamily 3 member A3 — O00478 (reviewed: O00478)
All UniProt accessions (9): O00478, A0A089GIA6, C9J3Q8, C9J877, C9JNZ3, C9JQT8, C9JUV8, C9JVU4, C9JZT5
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in T-cell responses in the adaptive immune response.
Subunit / interactions. Homodimer.
Subcellular location. Cell membrane.
Tissue specificity. Detected in peripheral blood mononuclear cells and in T-cells (at protein level). Detected in spleen and lymphocytes.
Post-translational modifications. N-glycosylated.
Similarity. Belongs to the immunoglobulin superfamily. BTN/MOG family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O00478-1 | 1 | yes |
| O00478-2 | 2 |
RefSeq proteins (3): NP_001229732, NP_008925, NP_932078 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001870 | B30.2/SPRY | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR003877 | SPRY_dom | Domain |
| IPR003879 | Butyrophylin_SPRY | Domain |
| IPR006574 | PRY | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013106 | Ig_V-set | Domain |
| IPR013320 | ConA-like_dom_sf | Homologous_superfamily |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR037954 | SPRY_PRY_BTN3 | Domain |
| IPR043136 | B30.2/SPRY_sf | Homologous_superfamily |
| IPR050504 | IgSF_BTN/MOG-like | Family |
| IPR053896 | BTN3A2-like_Ig-C | Domain |
Pfam: PF00622, PF07686, PF13765, PF22705
UniProt features (60 total): strand 32, turn 7, helix 5, domain 3, disulfide bond 2, splice variant 2, topological domain 2, signal peptide 1, chain 1, glycosylation site 1, sequence conflict 1, transmembrane region 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
9 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6J0G | X-RAY DIFFRACTION | 1.6 |
| 6J0L | X-RAY DIFFRACTION | 1.95 |
| 6J0K | X-RAY DIFFRACTION | 2 |
| 4F8T | X-RAY DIFFRACTION | 2.38 |
| 5ZZ3 | X-RAY DIFFRACTION | 3 |
| 9II6 | ELECTRON MICROSCOPY | 3.27 |
| 8ZJY | ELECTRON MICROSCOPY | 3.7 |
| 8ZJZ | ELECTRON MICROSCOPY | 3.8 |
| 8ZYR | ELECTRON MICROSCOPY | 4.07 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O00478-F1 | 83.25 | 0.58 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (2): 52–126, 166–220
Glycosylation sites (1): 115
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-8851680 | Butyrophilin (BTN) family interactions |
| R-HSA-1280218 | Adaptive Immune System |
| R-HSA-168256 | Immune System |
MSigDB gene sets: 388 (showing top):
GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, WANG_CLIM2_TARGETS_UP, GNF2_CASP8, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, MODULE_151, ENK_UV_RESPONSE_KERATINOCYTE_UP, MORF_UBE2I, GOBP_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, MORF_HDAC1, GOCC_CELL_SURFACE, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, ACTGCAG_MIR173P, WIELAND_UP_BY_HBV_INFECTION, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, GNF2_ZAP70
GO Biological Process (5): regulation of cytokine production (GO:0001817), T cell mediated immunity (GO:0002456), T cell receptor signaling pathway (GO:0050852), adaptive immune response (GO:0002250), immune system process (GO:0002376)
GO Molecular Function (2): signaling receptor binding (GO:0005102), protein binding (GO:0005515)
GO Cellular Component (6): nucleoplasm (GO:0005654), cytosol (GO:0005829), plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), membrane (GO:0016020), nuclear body (GO:0016604)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Adaptive Immune System | 1 |
| Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cytokine production | 1 |
| regulation of gene expression | 1 |
| regulation of multicellular organismal process | 1 |
| lymphocyte mediated immunity | 1 |
| adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains | 1 |
| antigen receptor-mediated signaling pathway | 1 |
| immune response | 1 |
| biological_process | 1 |
| protein binding | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| plasma membrane | 1 |
| cell surface | 1 |
| side of membrane | 1 |
| nucleoplasm | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
799 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BTN3A3 | XDH | P47989 | 968 |
| BTN3A3 | PLIN2 | Q99541 | 917 |
| BTN3A3 | CLEC4G | Q6UXB4 | 824 |
| BTN3A3 | MFGE8 | Q08431 | 777 |
| BTN3A3 | MUC1 | P13931 | 585 |
| BTN3A3 | LTF | P02788 | 576 |
| BTN3A3 | PPL | O60437 | 570 |
| BTN3A3 | GOT2 | P00505 | 542 |
| BTN3A3 | CIDEA | O60543 | 506 |
| BTN3A3 | MUC15 | Q8N387 | 503 |
| BTN3A3 | OMG | P23515 | 490 |
| BTN3A3 | AASDH | Q4L235 | 460 |
| BTN3A3 | HLA-A | P01891 | 443 |
| BTN3A3 | B2M | P01884 | 440 |
| BTN3A3 | PLIN1 | O60240 | 435 |
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BTN3A3 | BTN3A1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BTN3A3 | BTN3A1 | psi-mi:“MI:0914”(association) | 0.560 |
| MCOLN3 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| BTN3A2 | BTN3A3 | psi-mi:“MI:0914”(association) | 0.530 |
| BTN3A3 | LTF | psi-mi:“MI:0915”(physical association) | 0.400 |
| BTN3A3 | HAVCR1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| BTN3A3 | CTSL | psi-mi:“MI:0915”(physical association) | 0.370 |
| BTN3A3 | ARL8B | psi-mi:“MI:0915”(physical association) | 0.370 |
| TRIM11 | BTN3A3 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG16L1 | psi-mi:“MI:0914”(association) | 0.350 | |
| TRIM11 | RABGAP1L | psi-mi:“MI:0914”(association) | 0.350 |
| TRIM68 | BTN3A3 | psi-mi:“MI:0914”(association) | 0.350 |
| U2AF1 | MED19 | psi-mi:“MI:2364”(proximity) | 0.270 |
| DDX6 | RPSA2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| BTN3A3 | metE | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (46): BTN3A3 (Affinity Capture-MS), BTN3A3 (Affinity Capture-MS), BTN3A3 (Affinity Capture-MS), BTN3A3 (Affinity Capture-MS), BTN3A3 (Proximity Label-MS), BTN3A3 (Proximity Label-MS), BTN3A3 (Proximity Label-MS), BTN3A3 (Proximity Label-MS), BTN3A3 (Proximity Label-MS), BTN3A3 (Proximity Label-MS), BTN3A3 (Proximity Label-MS), BTN3A3 (Proximity Label-MS), BTN3A3 (Proximity Label-MS), BTN3A3 (Proximity Label-MS), BTN3A3 (Proximity Label-MS)
ESM2 similar proteins: A0JN74, A6NCK2, A6NGJ6, A6NI03, B1H278, K7N6K2, O00478, O00481, P14373, P19474, Q13410, Q1ACD5, Q1ACD6, Q1ACD7, Q1ACD8, Q1XHU0, Q2YEM8, Q2YEM9, Q3ZEE5, Q587N6, Q5C8T6, Q5C8T8, Q5C8U1, Q5D7I9, Q5D7J0, Q5D7J1, Q5NCC9, Q5R996, Q62158, Q6MFZ5, Q7YR33, Q7YRV4, Q80V85, Q8BGE7, Q8NG06, Q923T7, Q96BQ3, Q96F44, Q99PP6, Q99PQ2
Diamond homologs: A0A0E4BZH1, A4QPC6, A7TZE6, A7TZF0, A7TZF3, A7TZG1, A7TZG3, A7XUX6, A7XUY5, A7XUZ6, A7XV04, A7XV07, A7XV14, A8MVZ5, O00478, O00481, O70355, P18892, P55803, P78410, Q13410, Q16653, Q29ZQ1, Q5R7W8, Q5R960, Q5R996, Q61885, Q62556, Q63345, Q6MG97, Q6UX41, Q6UXE8, Q6UXG8, Q7KYR7, Q7TST0, Q8BJE2, Q8WVV5, Q96KV6, Q96PL5, Q9BGS7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
165 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 112 |
| Likely benign | 13 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1614 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:26440646:GAA:G | donor_gain | 0.9900 |
| 6:26448603:T:A | acceptor_gain | 0.9900 |
| 6:26448755:G:GG | donor_gain | 0.9900 |
| 6:26450101:TTTCA:T | acceptor_loss | 0.9900 |
| 6:26450102:TTCA:T | acceptor_loss | 0.9900 |
| 6:26450103:TCA:T | acceptor_loss | 0.9900 |
| 6:26450104:CAG:C | acceptor_loss | 0.9900 |
| 6:26450105:A:AG | acceptor_gain | 0.9900 |
| 6:26450106:G:GA | acceptor_gain | 0.9900 |
| 6:26450106:GA:G | acceptor_gain | 0.9900 |
| 6:26450133:GGT:G | donor_loss | 0.9900 |
| 6:26450134:G:GC | donor_loss | 0.9900 |
| 6:26450135:TGA:T | donor_loss | 0.9900 |
| 6:26450136:GAG:G | donor_loss | 0.9900 |
| 6:26450947:A:AG | acceptor_gain | 0.9900 |
| 6:26451165:GGC:G | donor_gain | 0.9900 |
| 6:26451166:GC:G | donor_gain | 0.9900 |
| 6:26451167:C:G | donor_gain | 0.9900 |
| 6:26451673:AGCG:A | acceptor_gain | 0.9900 |
| 6:26451674:GCGG:G | acceptor_gain | 0.9900 |
| 6:26440649:G:GG | donor_gain | 0.9800 |
| 6:26448433:GAAA:G | donor_gain | 0.9800 |
| 6:26448444:AAGAG:A | donor_loss | 0.9800 |
| 6:26448445:AGAGG:A | donor_loss | 0.9800 |
| 6:26448446:G:GT | donor_gain | 0.9800 |
| 6:26448446:GAG:G | donor_gain | 0.9800 |
| 6:26448446:GAGGT:G | donor_loss | 0.9800 |
| 6:26448447:AG:A | donor_loss | 0.9800 |
| 6:26448448:GGTAT:G | donor_loss | 0.9800 |
| 6:26448450:T:A | donor_loss | 0.9800 |
AlphaMissense
3804 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:26451875:T:A | W407R | 0.998 |
| 6:26451875:T:C | W407R | 0.998 |
| 6:26451845:T:A | W397R | 0.994 |
| 6:26451845:T:C | W397R | 0.994 |
| 6:26451885:G:A | G410E | 0.994 |
| 6:26451788:T:C | F378L | 0.993 |
| 6:26451790:T:A | F378L | 0.993 |
| 6:26451790:T:G | F378L | 0.993 |
| 6:26451877:G:C | W407C | 0.993 |
| 6:26451877:G:T | W407C | 0.993 |
| 6:26451884:G:T | G410W | 0.992 |
| 6:26451847:G:C | W397C | 0.991 |
| 6:26451847:G:T | W397C | 0.991 |
| 6:26451807:T:A | V384D | 0.988 |
| 6:26451876:G:C | W407S | 0.987 |
| 6:26451884:G:A | G410R | 0.987 |
| 6:26451884:G:C | G410R | 0.987 |
| 6:26452076:T:C | F474L | 0.986 |
| 6:26452078:C:A | F474L | 0.986 |
| 6:26452078:C:G | F474L | 0.986 |
| 6:26451885:G:T | G410V | 0.984 |
| 6:26451846:G:C | W397S | 0.983 |
| 6:26451868:A:C | R404S | 0.982 |
| 6:26451868:A:T | R404S | 0.982 |
| 6:26452152:T:C | F499S | 0.981 |
| 6:26444070:T:A | W67R | 0.980 |
| 6:26444070:T:C | W67R | 0.980 |
| 6:26452077:T:C | F474S | 0.980 |
| 6:26444072:G:C | W67C | 0.979 |
| 6:26444072:G:T | W67C | 0.979 |
dbSNP variants (sampled 300 via entrez): RS1000131219 (6:26451294 A>C,G), RS1000329627 (6:26449482 A>G), RS1000446575 (6:26442945 G>A), RS1000742225 (6:26444809 C>T), RS1000940881 (6:26439434 C>T), RS1000976750 (6:26439107 G>C,T), RS1001137658 (6:26452569 C>T), RS1001168650 (6:26452164 C>A,T), RS1001624431 (6:26451055 T>G), RS1001946268 (6:26440901 T>C), RS1002174464 (6:26453573 T>C), RS1002381614 (6:26447553 G>C), RS1002554952 (6:26440326 T>C), RS1002757071 (6:26447893 G>A), RS1002786130 (6:26447320 A>G,T)
Disease associations
OMIM: gene MIM:613595 | 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 |
|---|---|---|
| GCST003476_8 | Eyebrow thickness | 3.000000e-07 |
| GCST003477_7 | Monobrow thickness | 4.000000e-07 |
| GCST004521_113 | Autism spectrum disorder or schizophrenia | 3.000000e-19 |
| GCST004521_208 | Autism spectrum disorder or schizophrenia | 5.000000e-17 |
| GCST004521_234 | Autism spectrum disorder or schizophrenia | 4.000000e-10 |
| GCST004521_299 | Autism spectrum disorder or schizophrenia | 6.000000e-13 |
| GCST004521_301 | Autism spectrum disorder or schizophrenia | 1.000000e-08 |
| GCST004521_69 | Autism spectrum disorder or schizophrenia | 8.000000e-24 |
| GCST004750_82 | Squamous cell lung carcinoma | 3.000000e-08 |
| GCST006613_50 | Triglycerides | 9.000000e-11 |
| GCST007268_22 | Diastolic blood pressure | 8.000000e-13 |
| GCST010002_50 | Refractive error | 4.000000e-34 |
| GCST010142_16 | Fish- and plant-related diet | 2.000000e-10 |
| GCST010142_19 | Fish- and plant-related diet | 4.000000e-10 |
| GCST010142_34 | Fish- and plant-related diet | 7.000000e-09 |
| GCST010142_35 | Fish- and plant-related diet | 8.000000e-09 |
| GCST010142_42 | Fish- and plant-related diet | 1.000000e-08 |
| GCST010142_7 | Fish- and plant-related diet | 3.000000e-12 |
| GCST010142_74 | Fish- and plant-related diet | 9.000000e-09 |
| GCST010142_82 | Fish- and plant-related diet | 3.000000e-08 |
| GCST010241_22 | Apolipoprotein A1 levels | 1.000000e-17 |
| GCST010702_75 | Subcortical volume (MOSTest) | 3.000000e-11 |
| GCST010703_272 | Brain morphology (MOSTest) | 7.000000e-16 |
| GCST012226_51 | Waist circumference adjusted for body mass index | 9.000000e-10 |
| GCST90000514_4 | Gastroesophageal reflux disease | 2.000000e-13 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004530 | triglyceride measurement |
| EFO:0006336 | diastolic blood pressure |
| EFO:0008111 | diet measurement |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 5 |
| Arsenic | affects expression, affects cotreatment, decreases expression, increases abundance | 3 |
| Cyclosporine | affects expression, increases expression | 3 |
| sulforaphane | decreases expression | 2 |
| (+)-JQ1 compound | decreases expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Tretinoin | increases expression | 2 |
| Valproic Acid | decreases expression, decreases methylation | 2 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| ochratoxin A | decreases acetylation | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| hydroquinone | decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Calcitriol | decreases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Fluorouracil | increases expression | 1 |
| Lead | affects expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Triclosan | increases 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): gastroesophageal reflux disease, squamous cell lung carcinoma