PBX4
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Summary
PBX4 (PBX homeobox 4, HGNC:13403) is a protein-coding gene on chromosome 19p13.11, encoding Pre-B-cell leukemia transcription factor 4 (Q9BYU1).
This gene encodes a member of the pre-B cell leukemia transcription factor family. These proteins are homeobox proteins that play critical roles in embryonic development and cellular differentiation both as Hox cofactors and through Hox-independent pathways. The encoded protein contains a homeobox DNA-binding domain, but specific functions of the protein have not been determined. Alternatively spliced transcript variants have been observed for this gene.
Source: NCBI Gene 80714 — RefSeq curated summary.
At a glance
- GWAS associations: 35
- Clinical variants (ClinVar): 76 total
- MANE Select transcript:
NM_025245
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13403 |
| Approved symbol | PBX4 |
| Name | PBX homeobox 4 |
| Location | 19p13.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000105717 |
| Ensembl biotype | protein_coding |
| OMIM | 608127 |
| Entrez | 80714 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 3 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron
ENST00000251203, ENST00000557978, ENST00000558222, ENST00000558276, ENST00000559735, ENST00000885656, ENST00000885657
RefSeq mRNA: 1 — MANE Select: NM_025245
NM_025245
CCDS: CCDS12406
Canonical transcript exons
ENST00000251203 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000866051 | 19570586 | 19570833 |
| ENSE00002546624 | 19618511 | 19618687 |
| ENSE00003311260 | 19561713 | 19562117 |
| ENSE00003500625 | 19599292 | 19599365 |
| ENSE00003537845 | 19564933 | 19565089 |
| ENSE00003542895 | 19569449 | 19569584 |
| ENSE00003551509 | 19563509 | 19563615 |
| ENSE00003684675 | 19570109 | 19570299 |
Expression profiles
Bgee: expression breadth ubiquitous, 174 present calls, max score 94.38.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.0003 / max 121.2479, expressed in 948 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 180154 | 3.7870 | 937 |
| 180153 | 0.2133 | 93 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of thyroid gland | UBERON:0001119 | 94.38 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 94.31 | gold quality |
| thyroid gland | UBERON:0002046 | 93.43 | gold quality |
| granulocyte | CL:0000094 | 85.05 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 84.85 | gold quality |
| left testis | UBERON:0004533 | 81.40 | gold quality |
| right testis | UBERON:0004534 | 81.31 | gold quality |
| ventricular zone | UBERON:0003053 | 80.13 | gold quality |
| testis | UBERON:0000473 | 78.78 | gold quality |
| right uterine tube | UBERON:0001302 | 78.29 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 78.29 | gold quality |
| lymph node | UBERON:0000029 | 78.07 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 78.04 | gold quality |
| spleen | UBERON:0002106 | 77.66 | gold quality |
| embryo | UBERON:0000922 | 77.58 | gold quality |
| ganglionic eminence | UBERON:0004023 | 77.58 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 77.37 | gold quality |
| vermiform appendix | UBERON:0001154 | 77.20 | gold quality |
| cortical plate | UBERON:0005343 | 76.14 | gold quality |
| blood | UBERON:0000178 | 76.11 | gold quality |
| skin of leg | UBERON:0001511 | 74.69 | gold quality |
| skin of abdomen | UBERON:0001416 | 74.50 | gold quality |
| adenohypophysis | UBERON:0002196 | 74.50 | gold quality |
| small intestine | UBERON:0002108 | 73.91 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 73.70 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 73.60 | gold quality |
| right ovary | UBERON:0002118 | 73.49 | gold quality |
| body of stomach | UBERON:0001161 | 73.48 | gold quality |
| tibial nerve | UBERON:0001323 | 73.23 | gold quality |
| right lung | UBERON:0002167 | 72.86 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.43 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
3 targets.
| Target | Regulation |
|---|---|
| FGF8 | Unknown |
| LPAR1 | |
| PGK2 |
miRNA regulators (miRDB)
19 targeting PBX4, 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-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-12132 | 99.47 | 68.90 | 1341 |
| HSA-MIR-4795-5P | 99.11 | 66.90 | 876 |
| HSA-MIR-3124-3P | 98.87 | 68.95 | 2123 |
| HSA-MIR-6889-3P | 98.84 | 67.35 | 1198 |
| HSA-MIR-3074-5P | 98.82 | 66.56 | 1414 |
| HSA-MIR-6878-5P | 98.49 | 67.91 | 2142 |
| HSA-MIR-4773 | 98.35 | 67.30 | 1710 |
| HSA-MIR-1233-5P | 98.19 | 66.71 | 1201 |
| HSA-MIR-6778-5P | 98.19 | 66.59 | 1239 |
| HSA-MIR-4303 | 98.01 | 68.13 | 2304 |
| HSA-MIR-6788-5P | 97.80 | 66.41 | 1532 |
| HSA-MIR-30C-1-3P | 97.80 | 66.36 | 1499 |
| HSA-MIR-30C-2-3P | 97.80 | 66.45 | 1499 |
| HSA-MIR-548AD-3P | 94.39 | 66.04 | 350 |
Literature-anchored findings (GeneRIF, showing 3)
- up-regulation of PREP1 and PBX genes could be implicated in the modulation of the cellular response to chemotherapeutic-induced apoptosis. (PMID:22185299)
- Sex (male)-specific association of rs16996148 SNP in the NCAN/CILP2/PBX4 and serum lipid levels is observed both the Mulao and Han ethnic groups. (PMID:22208664)
- Identifying the Potential Roles of PBX4 in Human Cancers Based on Integrative Analysis. (PMID:35740947)
Cross-species orthologs
10 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pbx2 | ENSDARG00000019717 |
| mus_musculus | Pbx4 | ENSMUSG00000031860 |
| rattus_norvegicus | Pbx4 | ENSRNOG00000010736 |
| drosophila_melanogaster | exd | FBGN0000611 |
| drosophila_melanogaster | hth | FBGN0001235 |
| drosophila_melanogaster | vis | FBGN0033748 |
| drosophila_melanogaster | achi | FBGN0033749 |
| caenorhabditis_elegans | WBGENE00000443 | |
| caenorhabditis_elegans | WBGENE00006796 | |
| caenorhabditis_elegans | WBGENE00017690 |
Paralogs (13): MEIS3 (ENSG00000105419), TGIF2 (ENSG00000118707), MEIS2 (ENSG00000134138), MEIS1 (ENSG00000143995), TGIF2LX (ENSG00000153779), PKNOX1 (ENSG00000160199), PKNOX2 (ENSG00000165495), PBX3 (ENSG00000167081), TGIF2LY (ENSG00000176679), TGIF1 (ENSG00000177426), PBX1 (ENSG00000185630), MEIS3P2 (ENSG00000188013), PBX2 (ENSG00000204304)
Protein
Protein identifiers
Pre-B-cell leukemia transcription factor 4 — Q9BYU1 (reviewed: Q9BYU1)
Alternative names: Homeobox protein PBX4
All UniProt accessions (2): Q9BYU1, H0YL59
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Nucleus.
Similarity. Belongs to the TALE/PBX homeobox family.
RefSeq proteins (1): NP_079521* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001356 | HD | Domain |
| IPR005542 | PBX_PBC_dom | Domain |
| IPR008422 | KN_HD | Domain |
| IPR009057 | Homeodomain-like_sf | Homologous_superfamily |
| IPR050224 | TALE_homeobox | Family |
Pfam: PF03792, PF05920
UniProt features (11 total): region of interest 3, sequence variant 3, chain 1, domain 1, sequence conflict 1, DNA-binding region 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BYU1-F1 | 74.29 | 0.38 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 83 (showing top):
MODULE_511, GOBP_NEUROGENESIS, TGACCTY_ERR1_Q2, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_HEAD_DEVELOPMENT, AFFAR_YY1_TARGETS_UP, GOBP_EMBRYO_DEVELOPMENT, GOBP_SENSORY_ORGAN_DEVELOPMENT, RGAGGAARY_PU1_Q6, GOBP_EMBRYONIC_ORGAN_DEVELOPMENT, GOCC_SEX_CHROMOSOME, GOCC_XY_BODY, chr19p13, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOBP_POSITIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II
GO Biological Process (8): eye development (GO:0001654), brain development (GO:0007420), animal organ morphogenesis (GO:0009887), positive regulation of DNA-templated transcription (GO:0045893), embryonic organ development (GO:0048568), neuron development (GO:0048666), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357)
GO Molecular Function (5): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), sequence-specific DNA binding (GO:0043565), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)
GO Cellular Component (3): chromatin (GO:0000785), XY body (GO:0001741), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| animal organ development | 3 |
| regulation of DNA-templated transcription | 3 |
| DNA-templated transcription | 2 |
| sensory organ development | 1 |
| visual system development | 1 |
| central nervous system development | 1 |
| head development | 1 |
| anatomical structure morphogenesis | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| embryo development | 1 |
| neuron differentiation | 1 |
| cell development | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| transcription by RNA polymerase II | 1 |
| chromatin | 1 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 1 |
| DNA-binding transcription factor activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| DNA binding | 1 |
| nucleic acid binding | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| binding | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| sex chromosome | 1 |
| condensed chromatin of inactivated sex chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
666 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PBX4 | CILP2 | Q8IUL8 | 823 |
| PBX4 | MEIS3 | Q99687 | 822 |
| PBX4 | HOXA10 | P31260 | 566 |
| PBX4 | NCAN | O14594 | 543 |
| PBX4 | HDAC1 | Q13547 | 517 |
| PBX4 | PSRC1 | Q6PGN9 | 513 |
| PBX4 | GALNT2 | Q10471 | 507 |
| PBX4 | MMAB | Q96EY8 | 507 |
| PBX4 | CELSR2 | Q9HCU4 | 471 |
| PBX4 | MVB12A | Q96EY5 | 449 |
| PBX4 | TRIB1 | Q96RU8 | 447 |
| PBX4 | ZNF619 | Q8N2I2 | 420 |
| PBX4 | YJEFN3 | A6XGL0 | 418 |
| PBX4 | ETNK2 | Q9NVF9 | 418 |
| PBX4 | SORT1 | Q99523 | 415 |
IntAct
258 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PBX4 | IPO13 | psi-mi:“MI:0915”(physical association) | 0.830 |
| PBX4 | TFIP11 | psi-mi:“MI:0915”(physical association) | 0.830 |
| IPO13 | PBX4 | psi-mi:“MI:0915”(physical association) | 0.830 |
| TFIP11 | PBX4 | psi-mi:“MI:0915”(physical association) | 0.830 |
| PKNOX1 | PBX4 | psi-mi:“MI:0915”(physical association) | 0.670 |
| PKNOX2 | PBX4 | psi-mi:“MI:0915”(physical association) | 0.670 |
| USP20 | PBX4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HOXC8 | PBX4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PBX4 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| KDM1A | PBX4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MEIS2 | PBX4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PBX4 | SERTAD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPL | PBX4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HOXB2 | PBX4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PBX4 | PICK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MBD3 | PBX4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PBX4 | C14orf119 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PBX4 | CCM2L | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (91): PBX4 (Two-hybrid), PBX4 (Two-hybrid), PBX4 (Affinity Capture-MS), PBX4 (Affinity Capture-MS), PBX4 (Affinity Capture-MS), PBX4 (Affinity Capture-MS), PBX4 (Affinity Capture-MS), TFIP11 (Two-hybrid), PBX4 (Two-hybrid), PBX4 (Two-hybrid), PBX4 (Two-hybrid), PBX4 (Two-hybrid), PBX4 (Two-hybrid), PBX4 (Two-hybrid), PBX4 (Two-hybrid)
ESM2 similar proteins: A0A1W2PQ72, A7J1T0, A7J1T2, A7MBB4, A8MZ59, D3ZXW3, M0R5D6, O36371, O43283, O43310, O73622, O95073, P03177, P10242, P21705, P46200, Q0P4H6, Q1HKZ5, Q1HVD1, Q1LVK9, Q22811, Q2NKQ1, Q3KSQ2, Q3UPF5, Q535K8, Q562B4, Q567C6, Q5R8X7, Q5ZI27, Q6DGX3, Q6INH1, Q6J1H4, Q6PEE2, Q6ZTZ1, Q71M44, Q7SXL7, Q80T85, Q8BFX3, Q8BIL2, Q8BKE5
Diamond homologs: A1YER0, A2D5H2, A6NDR6, A8K0S8, A8WL06, B3DM47, B4F6V6, O00470, O04134, O04135, O14770, O17894, O22299, O35317, O35984, O42406, O46339, O65034, O73916, O80416, O93307, O95343, O95475, P10842, P24345, P40424, P40425, P40426, P40427, P41778, P41779, P41817, P46608, P46609, P46639, P46640, P48731, P53147, P56661, P56662
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PBX4 | “down-regulates quantity by repression” | FGF8 | “transcriptional regulation” |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 69 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 |
|---|---|---|---|
| anterior/posterior pattern specification | 5 | 15.6× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
76 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 61 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1802 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:19563504:CTCA:C | donor_loss | 1.0000 |
| 19:19563506:CACC:C | donor_loss | 1.0000 |
| 19:19563508:C:CG | donor_loss | 1.0000 |
| 19:19569375:C:A | donor_gain | 1.0000 |
| 19:19570097:ACAGG:A | donor_gain | 1.0000 |
| 19:19570098:CAGGC:C | donor_gain | 1.0000 |
| 19:19570831:CCA:C | acceptor_gain | 1.0000 |
| 19:19570832:CAC:C | acceptor_gain | 1.0000 |
| 19:19570834:C:CC | acceptor_gain | 1.0000 |
| 19:19618526:T:TA | donor_gain | 1.0000 |
| 19:19563507:A:AC | donor_gain | 0.9900 |
| 19:19563508:C:CC | donor_gain | 0.9900 |
| 19:19564926:CACT:C | donor_loss | 0.9900 |
| 19:19564927:ACTC:A | donor_loss | 0.9900 |
| 19:19564929:TCACC:T | donor_loss | 0.9900 |
| 19:19564930:CA:C | donor_loss | 0.9900 |
| 19:19564931:A:AC | donor_gain | 0.9900 |
| 19:19564932:C:A | donor_loss | 0.9900 |
| 19:19564932:C:CC | donor_gain | 0.9900 |
| 19:19564983:T:TA | donor_gain | 0.9900 |
| 19:19565086:AGACC:A | acceptor_loss | 0.9900 |
| 19:19565088:ACC:A | acceptor_loss | 0.9900 |
| 19:19565090:C:CA | acceptor_loss | 0.9900 |
| 19:19565091:T:C | acceptor_loss | 0.9900 |
| 19:19569374:T:TA | donor_gain | 0.9900 |
| 19:19569443:CGTCA:C | donor_loss | 0.9900 |
| 19:19569444:GTCA:G | donor_loss | 0.9900 |
| 19:19569445:TCA:T | donor_loss | 0.9900 |
| 19:19569446:CACCT:C | donor_loss | 0.9900 |
| 19:19569447:A:T | donor_loss | 0.9900 |
AlphaMissense
2444 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:19565066:T:A | K264N | 0.996 |
| 19:19565066:T:G | K264N | 0.996 |
| 19:19565075:A:C | F261L | 0.994 |
| 19:19565075:A:T | F261L | 0.994 |
| 19:19565077:A:G | F261L | 0.994 |
| 19:19565063:T:A | R265S | 0.992 |
| 19:19565063:T:G | R265S | 0.992 |
| 19:19569477:G:T | A247D | 0.992 |
| 19:19569488:T:A | K243N | 0.992 |
| 19:19569488:T:G | K243N | 0.992 |
| 19:19570274:A:T | V156D | 0.992 |
| 19:19565067:T:A | K264I | 0.991 |
| 19:19570265:A:G | L159P | 0.991 |
| 19:19565080:A:G | W260R | 0.990 |
| 19:19565080:A:T | W260R | 0.990 |
| 19:19565088:A:T | V257D | 0.990 |
| 19:19569530:A:C | F229L | 0.989 |
| 19:19569530:A:T | F229L | 0.989 |
| 19:19569532:A:G | F229L | 0.989 |
| 19:19565078:C:A | W260C | 0.988 |
| 19:19565078:C:G | W260C | 0.988 |
| 19:19569531:A:G | F229S | 0.988 |
| 19:19570285:G:C | F152L | 0.988 |
| 19:19570285:G:T | F152L | 0.988 |
| 19:19570287:A:G | F152L | 0.988 |
| 19:19565061:A:G | I266T | 0.985 |
| 19:19565076:A:G | F261S | 0.984 |
| 19:19599302:C:A | K61N | 0.984 |
| 19:19599302:C:G | K61N | 0.984 |
| 19:19565064:C:G | R265T | 0.983 |
dbSNP variants (sampled 300 via entrez): RS1000021089 (19:19607306 G>A), RS1000048719 (19:19568208 C>A,T), RS1000065171 (19:19563993 T>A,C), RS1000146440 (19:19589452 C>A), RS1000251754 (19:19577871 TAAAAAA>T,TAAAAA,TAAAAAAA), RS1000275029 (19:19577059 C>T), RS1000283786 (19:19618851 T>C), RS1000384065 (19:19594656 C>T), RS1000410067 (19:19602453 T>C), RS1000518247 (19:19589280 T>C), RS1000545573 (19:19573752 T>C), RS1000563203 (19:19609297 C>A), RS1000626781 (19:19605661 G>A), RS1000685853 (19:19599667 A>G,T), RS1000738750 (19:19619172 G>A,T)
Disease associations
OMIM: gene MIM:608127 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
35 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000134_2 | LDL cholesterol | 3.000000e-08 |
| GCST000138_9 | Triglycerides | 4.000000e-09 |
| GCST000286_11 | Triglycerides | 4.000000e-11 |
| GCST000287_4 | LDL cholesterol | 2.000000e-08 |
| GCST000758_7 | Triglycerides | 2.000000e-29 |
| GCST000759_15 | LDL cholesterol | 7.000000e-22 |
| GCST000760_8 | Cholesterol, total | 3.000000e-38 |
| GCST001762_394 | Obesity-related traits | 4.000000e-06 |
| GCST002149_11 | Schizophrenia | 3.000000e-09 |
| GCST002539_89 | Schizophrenia | 4.000000e-10 |
| GCST003486_3 | Response to fenofibrate (LDL cholesterol levels) | 2.000000e-08 |
| GCST003657_1 | Attention deficit hyperactivity disorder symptom score | 1.000000e-07 |
| GCST004625_213 | Monocyte count | 2.000000e-09 |
| GCST004632_22 | Lymphocyte percentage of white cells | 9.000000e-10 |
| GCST004764_1 | LDL cholesterol change in response to fenofibrate in statin-treated type 2 diabetes | 9.000000e-08 |
| GCST004765_31 | Total cholesterol change in response to fenofibrate in statin-treated type 2 diabetes | 6.000000e-07 |
| GCST004864_18 | Perceived unattractiveness to mosquitoes | 3.000000e-06 |
| GCST006614_114 | Total cholesterol levels | 6.000000e-12 |
| GCST006803_88 | Schizophrenia | 7.000000e-12 |
| GCST007096_62 | Pulse pressure | 1.000000e-09 |
| GCST007658_7 | Triglyceride levels (parental genotype effect) | 8.000000e-06 |
| GCST007660_1 | Triglyceride levels in response to fenofibrate treatment (parental genotype effect) | 3.000000e-06 |
| GCST007660_2 | Triglyceride levels in response to fenofibrate treatment (parental genotype effect) | 7.000000e-06 |
| GCST007660_3 | Triglyceride levels in response to fenofibrate treatment (parental genotype effect) | 9.000000e-07 |
| GCST008103_10 | Bipolar disorder | 1.000000e-09 |
| GCST008115_2 | Bipolar I disorder | 3.000000e-09 |
| GCST008116_4 | Bipolar II disorder | 4.000000e-06 |
| GCST009240_416 | Serum metabolite levels (CMS) | 4.000000e-09 |
| GCST009242_384 | Serum metabolite levels | 9.000000e-10 |
| GCST010002_52 | Refractive error | 4.000000e-29 |
EFO canonical traits (16, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0004574 | total cholesterol measurement |
| EFO:0007804 | LDL cholesterol change measurement |
| EFO:0007860 | ADHD symptom measurement |
| EFO:0005091 | monocyte count |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0007806 | total cholesterol change measurement |
| EFO:0008380 | perceived unattractiveness to mosquitos measurement |
| EFO:0005763 | pulse pressure measurement |
| EFO:0005939 | parental genotype effect measurement |
| EFO:0009963 | bipolar I disorder |
| EFO:0009964 | bipolar II disorder |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004842 | eosinophil count |
| EFO:0007991 | eosinophil percentage of leukocytes |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
22 total (human), top 22 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | increases expression | 1 |
| propionaldehyde | increases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | decreases methylation | 1 |
| titanium dioxide | increases methylation | 1 |
| butyraldehyde | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| abrine | increases expression | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Temozolomide | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Lipopolysaccharides | increases expression, affects response to substance | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| 8-Bromo Cyclic Adenosine Monophosphate | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Acrylamide | increases expression | 1 |
| Particulate Matter | 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): alcoholic liver cirrhosis