PBX2
gene geneOn this page
Also known as G17HOX12PBX2MHC
Summary
PBX2 (PBX homeobox 2, HGNC:8633) is a protein-coding gene on chromosome 6p21.32, encoding Pre-B-cell leukemia transcription factor 2 (P40425). Transcriptional activator that binds the sequence 5’-ATCAATCAA-3'.
This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-cell leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene is located within the major histocompatibility complex (MHC) on chromosome 6.
Source: NCBI Gene 5089 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 59 total
- MANE Select transcript:
NM_002586
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8633 |
| Approved symbol | PBX2 |
| Name | PBX homeobox 2 |
| Location | 6p21.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | G17, HOX12, PBX2MHC |
| Ensembl gene | ENSG00000204304 |
| Ensembl biotype | protein_coding |
| OMIM | 176311 |
| Entrez | 5089 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 retained_intron, 1 protein_coding
ENST00000375050, ENST00000478678, ENST00000480254, ENST00000495300, ENST00000496171
RefSeq mRNA: 1 — MANE Select: NM_002586
NM_002586
CCDS: CCDS4748
Canonical transcript exons
ENST00000375050 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001348644 | 32184733 | 32186474 |
| ENSE00001635556 | 32189695 | 32190202 |
| ENSE00001739809 | 32186604 | 32186690 |
| ENSE00001759610 | 32186813 | 32186901 |
| ENSE00001795541 | 32187242 | 32187395 |
| ENSE00003530237 | 32187647 | 32187782 |
| ENSE00003532154 | 32188723 | 32188796 |
| ENSE00003539392 | 32187966 | 32188156 |
| ENSE00003585775 | 32188257 | 32188504 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 98.14.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.3840 / max 126.8765, expressed in 1787 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 72921 | 15.3840 | 1787 |
| 72922 | 0.1781 | 61 |
| 72923 | 0.1302 | 37 |
| 72924 | 0.0698 | 20 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of thyroid gland | UBERON:0001119 | 98.14 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.99 | gold quality |
| granulocyte | CL:0000094 | 97.98 | gold quality |
| thyroid gland | UBERON:0002046 | 97.88 | gold quality |
| right ovary | UBERON:0002118 | 97.60 | gold quality |
| spleen | UBERON:0002106 | 97.58 | gold quality |
| body of uterus | UBERON:0009853 | 97.56 | gold quality |
| pituitary gland | UBERON:0000007 | 97.49 | gold quality |
| left ovary | UBERON:0002119 | 97.46 | gold quality |
| ovary | UBERON:0000992 | 97.29 | gold quality |
| adenohypophysis | UBERON:0002196 | 97.26 | gold quality |
| left uterine tube | UBERON:0001303 | 97.25 | gold quality |
| blood | UBERON:0000178 | 97.19 | gold quality |
| right uterine tube | UBERON:0001302 | 97.15 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 96.96 | gold quality |
| right adrenal gland | UBERON:0001233 | 96.92 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.87 | gold quality |
| endocervix | UBERON:0000458 | 96.81 | gold quality |
| myometrium | UBERON:0001296 | 96.79 | gold quality |
| vermiform appendix | UBERON:0001154 | 96.77 | gold quality |
| placenta | UBERON:0001987 | 96.70 | gold quality |
| lymph node | UBERON:0000029 | 96.69 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 96.69 | gold quality |
| fundus of stomach | UBERON:0001160 | 96.67 | gold quality |
| fallopian tube | UBERON:0003889 | 96.63 | gold quality |
| gall bladder | UBERON:0002110 | 96.52 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 96.44 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 96.37 | gold quality |
| prostate gland | UBERON:0002367 | 96.31 | gold quality |
| left adrenal gland | UBERON:0001234 | 96.26 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6911 | no | 10.40 |
| E-ANND-3 | no | 1.24 |
Regulation
Is transcription factor: yes
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA1113.1 | PBX2 | TALE-type homeo domain factors |
| MA1113.2 | PBX2 | TALE-type homeo domain factors |
| MA1113.3 | PBX2 | TALE-type homeo domain factors |
JASPAR matrix evidence (PMIDs): PMID:10082572, PMID:12054735
miRNA regulators (miRDB)
179 targeting PBX2, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
Literature-anchored findings (GeneRIF, showing 11)
- a PBX2 Regulatory Element PRE-1048 has been identified which contains a novel DNA-binding sequence and mediates significant activation of the HOX11 gene in K562 cells. (PMID:12054735)
- these studies demonstrate that the homeodomain proteins, MEIS1, PBX1B, and PBX2, play an important role in megakaryocytic gene expression. (PMID:12609849)
- PBX2 increases in F9 teratocarcinoma cells because PREP-1 prevents its degradation (PMID:12871956)
- PBX2 expression pattern is similar to HOXA7 expression in ovarian follicular development (PMID:18973687)
- Expression levels of PBX2 and VCP were immunohistochemically examined and compared with each other in 206 non-small cell lung cancer cases (PMID:19356220)
- Pre B cell leukemia homeobox 2 has a role in poor prognosis of gastric adenocarcinoma and esophageal squamous cell carcinoma (PMID:20126986)
- a high level of PBX2 is a poor prognosticator for disease-free survival and overall survival in gingival squamous cell carcinoma (PMID:22374608)
- findings suggest the disruption of the HOXB7/PBX2 complexes, miR-221&222 inhibition or even better their combination, as innovative therapeutic approaches (PMID:23400877)
- miR19153p functions as a silencer of apoptosis, which regulates lung cancer apoptosis via targeting DRG2/PBX2. (PMID:26572100)
- The findings from the present study that a SNP of the PBX2 gene in the MHC region (at 6p21.3) was associated with allergic rhinitis (AR) in allele and genotypic analysis suggests a new susceptibility gene for AR in the MHC region and another gene associated with both asthma and AR in Chinese subjects. (PMID:26852910)
- Coexpression of HOXA6 and PBX2 promotes metastasis in gastric cancer. (PMID:33535170)
Cross-species orthologs
9 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Pbx2 | ENSMUSG00000034673 |
| rattus_norvegicus | Pbx2 | ENSRNOG00000000440 |
| 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), PBX4 (ENSG00000105717), TGIF2 (ENSG00000118707), MEIS2 (ENSG00000134138), MEIS1 (ENSG00000143995), TGIF2LX (ENSG00000153779), PKNOX1 (ENSG00000160199), PKNOX2 (ENSG00000165495), PBX3 (ENSG00000167081), TGIF2LY (ENSG00000176679), TGIF1 (ENSG00000177426), PBX1 (ENSG00000185630), MEIS3P2 (ENSG00000188013)
Protein
Protein identifiers
Pre-B-cell leukemia transcription factor 2 — P40425 (reviewed: P40425)
Alternative names: Homeobox protein PBX2, Protein G17
All UniProt accessions (2): A0A024RCR3, P40425
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional activator that binds the sequence 5’-ATCAATCAA-3’. Activates transcription of PF4 in complex with MEIS1.
Subunit / interactions. Forms heterodimers with MEIS1 and heterotrimers with MEIS1 and HOXA9. Interacts with PBXIP1.
Subcellular location. Nucleus.
Tissue specificity. Ubiquitously expressed.
Similarity. Belongs to the TALE/PBX homeobox family.
RefSeq proteins (1): NP_002577* (*=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 |
| IPR017970 | Homeobox_CS | Conserved_site |
| IPR050224 | TALE_homeobox | Family |
Pfam: PF03792, PF05920
UniProt features (17 total): modified residue 5, region of interest 5, compositionally biased region 3, chain 1, domain 1, sequence conflict 1, DNA-binding region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P40425-F1 | 71.30 | 0.32 |
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 (5): 136, 151, 159, 330, 395
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 267 (showing top):
HOFMANN_CELL_LYMPHOMA_UP, SP3_Q3, RIZ_ERYTHROID_DIFFERENTIATION_CCNE1, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_NEUROGENESIS, HNF1_Q6, BOYLAN_MULTIPLE_MYELOMA_D_DN, GOBP_PROXIMAL_DISTAL_PATTERN_FORMATION, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, BOYLAN_MULTIPLE_MYELOMA_D_CLUSTER_DN, GOBP_APPENDAGE_DEVELOPMENT, GOBP_HEAD_DEVELOPMENT, HNF1_C, TGGNNNNNNKCCAR_UNKNOWN
GO Biological Process (9): eye development (GO:0001654), brain development (GO:0007420), animal organ morphogenesis (GO:0009887), proximal/distal pattern formation (GO:0009954), embryonic limb morphogenesis (GO:0030326), positive regulation of transcription by RNA polymerase II (GO:0045944), embryonic organ development (GO:0048568), neuron development (GO:0048666), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (8): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), chromatin binding (GO:0003682), DNA-binding transcription factor binding (GO:0140297), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)
GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), transcription regulator complex (GO:0005667)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| animal organ development | 3 |
| regulation of transcription by RNA polymerase II | 2 |
| transcription cis-regulatory region binding | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| binding | 2 |
| sensory organ development | 1 |
| visual system development | 1 |
| central nervous system development | 1 |
| head development | 1 |
| anatomical structure morphogenesis | 1 |
| regionalization | 1 |
| limb morphogenesis | 1 |
| embryonic appendage morphogenesis | 1 |
| transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| embryo development | 1 |
| neuron differentiation | 1 |
| cell development | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription activator activity | 1 |
| positive regulation of transcription by RNA polymerase II | 1 |
| transcription factor binding | 1 |
| nucleic acid binding | 1 |
| regulation of DNA-templated transcription | 1 |
| transcription regulator activity | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
998 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PBX2 | PKNOX1 | P55347 | 808 |
| PBX2 | AGPAT1 | Q99943 | 805 |
| PBX2 | HOXA10 | P31260 | 795 |
| PBX2 | SLC38A2 | Q96QD8 | 760 |
| PBX2 | HOXB7 | P09629 | 749 |
| PBX2 | NOTCH4 | Q99466 | 738 |
| PBX2 | SLC38A1 | Q9H2H9 | 719 |
| PBX2 | HOXA9 | P31269 | 687 |
| PBX2 | CREBBP | Q92793 | 665 |
| PBX2 | MEIS3 | Q99687 | 646 |
| PBX2 | MEIS2 | O14770 | 614 |
| PBX2 | AGER | Q15109 | 597 |
| PBX2 | AGPAT2 | O15120 | 588 |
| PBX2 | TLX1 | P31314 | 533 |
| PBX2 | EMX2 | Q04743 | 524 |
IntAct
150 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STK25 | STRN | psi-mi:“MI:0914”(association) | 0.900 |
| PKNOX1 | PBX2 | psi-mi:“MI:0915”(physical association) | 0.740 |
| PBX2 | PKNOX1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| AFF4 | ELL2 | psi-mi:“MI:0914”(association) | 0.730 |
| MEIS2 | PBX1 | psi-mi:“MI:0914”(association) | 0.660 |
| CCDC120 | AIP | psi-mi:“MI:0914”(association) | 0.640 |
| PBX2 | RIPPLY2 | psi-mi:“MI:0915”(physical association) | 0.630 |
| RIPPLY2 | PBX2 | psi-mi:“MI:0915”(physical association) | 0.630 |
| MAB21L1 | PBX2 | psi-mi:“MI:0915”(physical association) | 0.620 |
| PBX2 | HOXA1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PBX2 | CARD9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CARD9 | PBX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HOXC8 | PBX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PBX2 | PPFIBP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HOXB5 | PBX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PBX2 | FAM90A1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PBX2 | BFSP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PBX2 | EFHC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HOXC9 | PBX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PBX2 | HOXC5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PBX2 | BRMS1L | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (100): PBX2 (Two-hybrid), CARD9 (Two-hybrid), PBX2 (Affinity Capture-RNA), PBX2 (Affinity Capture-RNA), PBX2 (Affinity Capture-MS), PBX2 (Affinity Capture-MS), PBX2 (Affinity Capture-MS), PBX2 (Affinity Capture-MS), PBX2 (Affinity Capture-MS), PBX2 (Affinity Capture-MS), PBX2 (Affinity Capture-MS), PBX2 (Affinity Capture-MS), PBX2 (Affinity Capture-MS), PBX2 (Affinity Capture-MS), PBX2 (Affinity Capture-MS)
ESM2 similar proteins: A3KMR8, A7Z017, B3DM47, B4R090, D3ZNT6, O35317, O35984, O42290, O57342, O75030, O75444, P10083, P23091, P25932, P40424, P40425, P40426, P41778, P54841, P54842, P54843, P54844, P56224, P57102, P61295, P61296, P79745, P79746, Q05192, Q0V9K1, Q27350, Q2PFS4, Q32NP8, Q4U1U2, Q504L8, Q61039, Q6DE84, Q6PFG8, Q789F3, Q7RTU3
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
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PBX2 | “up-regulates quantity by expression” | EMX2 | “transcriptional regulation” |
| PBXIP1 | “down-regulates activity” | PBX2 | binding |
| PBX2 | “down-regulates quantity by repression” | FGF8 | “transcriptional regulation” |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 101 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 |
|---|---|---|---|
| eye development | 8 | 31.2× | 1e-07 |
| anatomical structure morphogenesis | 9 | 13.9× | 5e-06 |
| anterior/posterior pattern specification | 6 | 12.1× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
59 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 41 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1410 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:32187286:C:CA | donor_gain | 1.0000 |
| 6:32187300:CA:C | donor_gain | 1.0000 |
| 6:32187300:CACGG:C | donor_gain | 1.0000 |
| 6:32187331:T:TA | donor_gain | 1.0000 |
| 6:32187345:T:A | donor_gain | 1.0000 |
| 6:32187391:GAGAC:G | acceptor_gain | 1.0000 |
| 6:32187393:GAC:G | acceptor_gain | 1.0000 |
| 6:32187394:AC:A | acceptor_gain | 1.0000 |
| 6:32187395:CC:C | acceptor_gain | 1.0000 |
| 6:32187396:C:CC | acceptor_gain | 1.0000 |
| 6:32187643:ATACC:A | donor_loss | 1.0000 |
| 6:32187644:TAC:T | donor_loss | 1.0000 |
| 6:32187645:ACCTG:A | donor_loss | 1.0000 |
| 6:32187646:C:CT | donor_loss | 1.0000 |
| 6:32187780:CGT:C | acceptor_gain | 1.0000 |
| 6:32187783:C:CC | acceptor_gain | 1.0000 |
| 6:32187960:GCCCA:G | donor_loss | 1.0000 |
| 6:32187961:CCCA:C | donor_loss | 1.0000 |
| 6:32187962:CCAC:C | donor_loss | 1.0000 |
| 6:32187963:CACCT:C | donor_loss | 1.0000 |
| 6:32187965:C:CT | donor_loss | 1.0000 |
| 6:32188152:CATGC:C | acceptor_gain | 1.0000 |
| 6:32188253:TTACC:T | donor_loss | 1.0000 |
| 6:32188255:A:AC | donor_gain | 1.0000 |
| 6:32188256:C:CC | donor_gain | 1.0000 |
| 6:32188256:CCTG:C | donor_gain | 1.0000 |
| 6:32188526:T:C | acceptor_gain | 1.0000 |
| 6:32186409:C:CA | donor_gain | 0.9900 |
| 6:32187297:TGA:T | donor_gain | 0.9900 |
| 6:32187299:A:AC | donor_gain | 0.9900 |
AlphaMissense
2808 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:32187329:C:G | A313P | 1.000 |
| 6:32187351:G:C | N305K | 1.000 |
| 6:32187351:G:T | N305K | 1.000 |
| 6:32187354:T:A | K304N | 1.000 |
| 6:32187354:T:G | K304N | 1.000 |
| 6:32187355:T:A | K304I | 1.000 |
| 6:32187355:T:G | K304T | 1.000 |
| 6:32187356:T:C | K304E | 1.000 |
| 6:32187357:C:A | K303N | 1.000 |
| 6:32187357:C:G | K303N | 1.000 |
| 6:32187358:T:A | K303M | 1.000 |
| 6:32187358:T:G | K303T | 1.000 |
| 6:32187359:T:C | K303E | 1.000 |
| 6:32187361:T:C | Y302C | 1.000 |
| 6:32187361:T:G | Y302S | 1.000 |
| 6:32187362:A:C | Y302D | 1.000 |
| 6:32187362:A:G | Y302H | 1.000 |
| 6:32187362:A:T | Y302N | 1.000 |
| 6:32187364:C:G | R301P | 1.000 |
| 6:32187364:C:T | R301H | 1.000 |
| 6:32187365:G:A | R301C | 1.000 |
| 6:32187365:G:C | R301G | 1.000 |
| 6:32187365:G:T | R301S | 1.000 |
| 6:32187367:A:C | I300S | 1.000 |
| 6:32187367:A:G | I300T | 1.000 |
| 6:32187367:A:T | I300N | 1.000 |
| 6:32187369:C:A | R299S | 1.000 |
| 6:32187369:C:G | R299S | 1.000 |
| 6:32187370:C:A | R299M | 1.000 |
| 6:32187370:C:G | R299T | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000 (6:32186118 T>C), RS1000286697 (6:32184644 C>A), RS1000337149 (6:32184909 C>T), RS1001 (6:32186196 A>G), RS1001508058 (6:32184697 G>A), RS1001796081 (6:32190465 C>G,T), RS1002 (6:32186240 G>A,C), RS1002013736 (6:32189033 C>T), RS1002210751 (6:32190532 A>G), RS1003229811 (6:32187462 G>A), RS1003586041 (6:32191890 G>A), RS1003637966 (6:32187178 T>C), RS1004095 (6:32185632 A>C), RS1004674647 (6:32190731 C>T), RS1005024340 (6:32190344 G>A)
Disease associations
OMIM: gene MIM:176311 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, affects cotreatment, increases expression, decreases expression | 7 |
| Acetaminophen | decreases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, decreases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| entinostat | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| belinostat | decreases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Panobinostat | affects cotreatment, affects expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Caffeine | increases phosphorylation | 1 |
| Carmustine | decreases expression | 1 |
| Cisplatin | affects expression, affects cotreatment | 1 |
| Diazinon | increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Flavonoids | increases expression | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Methotrexate | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Niclosamide | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_GZ92 | K562 eGFP-PBX2 | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.