TADA2B
gene geneOn this page
Also known as MGC21874
Summary
TADA2B (transcriptional adaptor 2B, HGNC:30781) is a protein-coding gene on chromosome 4p16.1, encoding Transcriptional adapter 2-beta (Q86TJ2). Coactivates PAX5-dependent transcription together with either SMARCA4 or GCN5L2. It is a selective cancer dependency (DepMap: 22.9% of cell lines).
TADA2B functions as a transcriptional adaptor protein that potentiates transcription through coordination of histone acetyltransferase (HAT) activity and by linking activation factors to basal transcriptional machinery (Barlev et al., 2003 [PubMed 12972612]).
Source: NCBI Gene 93624 — RefSeq curated summary.
At a glance
- GWAS associations: 12
- Clinical variants (ClinVar): 32 total
- Cancer dependency (DepMap): dependent in 22.9% of screened cell lines
- MANE Select transcript:
NM_152293
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30781 |
| Approved symbol | TADA2B |
| Name | transcriptional adaptor 2B |
| Location | 4p16.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC21874 |
| Ensembl gene | ENSG00000173011 |
| Ensembl biotype | protein_coding |
| OMIM | 608790 |
| Entrez | 93624 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 5 protein_coding
ENST00000310074, ENST00000506692, ENST00000510704, ENST00000512388, ENST00000515646
RefSeq mRNA: 1 — MANE Select: NM_152293
NM_152293
CCDS: CCDS47007
Canonical transcript exons
ENST00000310074 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001192497 | 7054062 | 7057952 |
| ENSE00001279053 | 7043372 | 7043849 |
Expression profiles
Bgee: expression breadth ubiquitous, 257 present calls, max score 96.23.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.6360 / max 639.6168, expressed in 1761 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 46823 | 7.6360 | 1761 |
Top tissues by expression
258 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tibialis anterior | UBERON:0001385 | 96.23 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 96.07 | gold quality |
| vastus lateralis | UBERON:0001379 | 94.98 | gold quality |
| parotid gland | UBERON:0001831 | 94.91 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 94.64 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 94.36 | silver quality |
| endothelial cell | CL:0000115 | 94.28 | gold quality |
| deltoid | UBERON:0001476 | 94.22 | silver quality |
| biceps brachii | UBERON:0001507 | 94.06 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 93.96 | gold quality |
| quadriceps femoris | UBERON:0001377 | 93.84 | gold quality |
| kidney epithelium | UBERON:0004819 | 93.48 | silver quality |
| cardiac muscle of right atrium | UBERON:0003379 | 93.44 | silver quality |
| skeletal muscle tissue | UBERON:0001134 | 93.32 | gold quality |
| gastrocnemius | UBERON:0001388 | 92.69 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 92.53 | gold quality |
| heart right ventricle | UBERON:0002080 | 92.34 | gold quality |
| muscle tissue | UBERON:0002385 | 92.33 | gold quality |
| muscle of leg | UBERON:0001383 | 92.23 | gold quality |
| caput epididymis | UBERON:0004358 | 91.73 | gold quality |
| myocardium | UBERON:0002349 | 91.54 | silver quality |
| cauda epididymis | UBERON:0004360 | 91.40 | gold quality |
| corpus epididymis | UBERON:0004359 | 91.35 | gold quality |
| secondary oocyte | CL:0000655 | 91.33 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 91.32 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 90.28 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 90.24 | silver quality |
| ileal mucosa | UBERON:0000331 | 90.01 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 90.01 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 89.86 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.97 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
125 targeting TADA2B, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-93-5P | 99.88 | 73.98 | 2606 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 22.9% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 1)
- ADA2a and ADA2b, two human homologues of yeast Ada2, each have the ability to form a heterotrimer with ADA3 and GCN5L but that only the ADA2b homologue is found in STAGA. (PMID:18936164)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tada2b | ENSDARG00000003769 |
| mus_musculus | Tada2b | ENSMUSG00000029196 |
| rattus_norvegicus | Tada2b | ENSRNOG00000027326 |
| drosophila_melanogaster | Ada2b | FBGN0037555 |
| caenorhabditis_elegans | WBGENE00017967 |
Paralogs (1): TADA2A (ENSG00000276234)
Protein
Protein identifiers
Transcriptional adapter 2-beta — Q86TJ2 (reviewed: Q86TJ2)
Alternative names: ADA2-like protein beta
All UniProt accessions (3): Q86TJ2, D6RC20, D6RJ05
UniProt curated annotations — full annotation on UniProt →
Function. Coactivates PAX5-dependent transcription together with either SMARCA4 or GCN5L2.
Subunit / interactions. Interacts with GCN5L2, SMARCA4, SMARCE1 and PAX5. Component of the TFTC-HAT complex.
Subcellular location. Nucleus.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q86TJ2-1 | 1 | yes |
| Q86TJ2-2 | 2 | |
| Q86TJ2-3 | 3 |
RefSeq proteins (1): NP_689506* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000433 | Znf_ZZ | Domain |
| IPR001005 | SANT/Myb | Domain |
| IPR009057 | Homeodomain-like_sf | Homologous_superfamily |
| IPR016827 | Ada2/TADA2 | Family |
| IPR017884 | SANT_dom | Domain |
| IPR036388 | WH-like_DNA-bd_sf | Homologous_superfamily |
| IPR041983 | ADA2-like_ZZ | Domain |
| IPR043145 | Znf_ZZ_sf | Homologous_superfamily |
| IPR055141 | TADA2A_B-like_dom | Domain |
| IPR056267 | Ada2b_C | Domain |
Pfam: PF00249, PF22941, PF24533, PF25299
UniProt features (15 total): binding site 8, splice variant 2, chain 1, domain 1, sequence conflict 1, zinc finger region 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86TJ2-F1 | 87.27 | 0.63 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (8): 45; 49; 9; 12; 23; 26; 32; 35
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-3214847 | HATs acetylate histones |
| R-HSA-5689880 | Ub-specific processing proteases |
| R-HSA-3247509 | Chromatin modifying enzymes |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-4839726 | Chromatin organization |
| R-HSA-5688426 | Deubiquitination |
| R-HSA-597592 | Post-translational protein modification |
MSigDB gene sets: 90 (showing top):
IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_REGULATION_OF_DNA_REPAIR, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_RNA_SPLICING, GOBP_DNA_DAMAGE_RESPONSE, chr4p16, GCM_DDX11, PID_P53_DOWNSTREAM_PATHWAY, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS, GCM_NF2, CUI_TCF21_TARGETS_2_DN, GOBP_CHROMATIN_REMODELING, GOBP_REGULATION_OF_RNA_SPLICING, GOCC_SAGA_COMPLEX
GO Biological Process (5): regulation of DNA repair (GO:0006282), chromatin remodeling (GO:0006338), regulation of transcription by RNA polymerase II (GO:0006357), regulation of RNA splicing (GO:0043484), positive regulation of DNA-templated transcription (GO:0045893)
GO Molecular Function (5): chromatin binding (GO:0003682), transcription coactivator activity (GO:0003713), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (4): SAGA complex (GO:0000124), nucleus (GO:0005634), nucleoplasm (GO:0005654), SAGA-type complex (GO:0070461)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Chromatin modifying enzymes | 1 |
| Deubiquitination | 1 |
| Chromatin organization | 1 |
| Post-translational protein modification | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 2 |
| binding | 2 |
| DNA repair | 1 |
| regulation of DNA metabolic process | 1 |
| regulation of cellular response to stress | 1 |
| chromatin organization | 1 |
| transcription by RNA polymerase II | 1 |
| RNA splicing | 1 |
| regulation of gene expression | 1 |
| regulation of primary metabolic process | 1 |
| DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| transcription coregulator activity | 1 |
| positive regulation of DNA-templated transcription | 1 |
| transition metal ion binding | 1 |
| cation binding | 1 |
| SAGA-type complex | 1 |
| DUBm complex | 1 |
| peptidase complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| histone acetyltransferase complex | 1 |
Protein interactions and networks
STRING
1304 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TADA2B | TADA3 | O75528 | 989 |
| TADA2B | SGF29 | Q96ES7 | 982 |
| TADA2B | TAF9 | Q16594 | 945 |
| TADA2B | KAT2A | Q92830 | 932 |
| TADA2B | KAT2B | Q92831 | 907 |
| TADA2B | SUPT3H | O75486 | 812 |
| TADA2B | YEATS2 | Q9ULM3 | 794 |
| TADA2B | ENY2 | Q9NPA8 | 787 |
| TADA2B | SUPT7L | O94864 | 775 |
| TADA2B | TRRAP | Q9Y4A5 | 763 |
| TADA2B | VCF1 | Q969W3 | 747 |
| TADA2B | TAF6L | Q9Y6J9 | 739 |
| TADA2B | SUPT20H | Q8NEM7 | 738 |
| TADA2B | CCDC127 | Q96BQ5 | 719 |
| TADA2B | ATXN7 | O15265 | 707 |
IntAct
67 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED4 | MED19 | psi-mi:“MI:0914”(association) | 0.900 |
| SGF29 | NDC80 | psi-mi:“MI:0914”(association) | 0.840 |
| KPNA6 | RNMT | psi-mi:“MI:0914”(association) | 0.800 |
| MED14 | MED19 | psi-mi:“MI:0914”(association) | 0.790 |
| MED9 | MED19 | psi-mi:“MI:0914”(association) | 0.790 |
| TAF12 | TAF4 | psi-mi:“MI:0914”(association) | 0.760 |
| TRRAP | ATXN7 | psi-mi:“MI:0914”(association) | 0.740 |
| TADA1 | TAF5L | psi-mi:“MI:0914”(association) | 0.640 |
| ATXN7L3 | USP27X | psi-mi:“MI:0914”(association) | 0.640 |
| KPNA1 | TCERG1 | psi-mi:“MI:0914”(association) | 0.640 |
| TADA2B | AATF | psi-mi:“MI:0915”(physical association) | 0.540 |
| AATF | TADA2B | psi-mi:“MI:0915”(physical association) | 0.540 |
| AATF | TADA2B | psi-mi:“MI:0403”(colocalization) | 0.540 |
| TADA2B | SUPT3H | psi-mi:“MI:0914”(association) | 0.530 |
| MED29 | POLR2D | psi-mi:“MI:0914”(association) | 0.530 |
| SUPT20H | ATXN7 | psi-mi:“MI:0914”(association) | 0.530 |
| TAF6L | SUPT3H | psi-mi:“MI:0914”(association) | 0.530 |
| SGF29 | MATN2 | psi-mi:“MI:0914”(association) | 0.530 |
| H3C1 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.410 |
| ECE1 | TADA2B | psi-mi:“MI:0915”(physical association) | 0.370 |
| TADA2B | ECE1 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (196): TADA2B (Affinity Capture-MS), TADA2B (Affinity Capture-MS), TADA2B (Affinity Capture-MS), TADA2B (Affinity Capture-MS), SUPT20H (Affinity Capture-MS), TERF2IP (Affinity Capture-MS), TRRAP (Affinity Capture-MS), TADA3 (Affinity Capture-MS), EPN1 (Affinity Capture-MS), TAF9B (Affinity Capture-MS), TAF9 (Affinity Capture-MS), TAF10 (Affinity Capture-MS), TERF2 (Affinity Capture-MS), SIRT1 (Affinity Capture-MS), TAF12 (Affinity Capture-MS)
ESM2 similar proteins: A0A2R8RWN9, A0JN27, E2R222, F1LTR1, O94925, P13264, P22234, P51583, P61201, P61202, P61203, P97834, Q07G17, Q13042, Q13888, Q15303, Q15645, Q28D01, Q2TBV1, Q2TBV5, Q2YDL1, Q3MHJ2, Q4R9A8, Q4VC33, Q5F398, Q5JUK3, Q5R532, Q5RB59, Q5RBN9, Q5RKJ1, Q5SP67, Q5TDH0, Q5XHZ9, Q61527, Q6GR10, Q6IQT4, Q6IR75, Q6P1K8, Q7L5Y9, Q7SXR3
Diamond homologs: Q503N9, Q5RBN9, Q6NRB5, Q7KSD8, Q86TJ2, Q8I8V0, Q9SFD5, Q54J55, O75478, Q3SZP8, Q54NA6, Q5ZJF3, Q6AYE3, Q8CHV6
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TADA2B | “form complex” | “SAGA complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 62 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 |
|---|---|---|---|
| Respiratory Syncytial Virus Infection Pathway | 6 | 25.1× | 7e-06 |
| HATs acetylate histones | 13 | 21.9× | 4e-12 |
| RSV-host interactions | 6 | 20.0× | 2e-05 |
| Adipogenesis | 6 | 20.0× | 2e-05 |
| Epigenetic regulation by WDR5-containing histone modifying complexes | 6 | 19.7× | 2e-05 |
| Chromatin organization | 11 | 19.1× | 8e-10 |
| Chromatin modifying enzymes | 12 | 18.4× | 2e-10 |
| Regulation of lipid metabolism by PPARalpha | 6 | 18.0× | 3e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of DNA repair | 15 | 69.1× | 8e-22 |
| regulation of RNA splicing | 15 | 54.7× | 2e-20 |
| RNA polymerase II preinitiation complex assembly | 10 | 45.3× | 2e-12 |
| positive regulation of transcription initiation by RNA polymerase II | 9 | 40.8× | 8e-11 |
| positive regulation of transcription elongation by RNA polymerase II | 7 | 35.1× | 6e-08 |
| transcription by RNA polymerase II | 11 | 12.9× | 5e-08 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
32 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 29 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
433 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:7043847:TGGGT:T | donor_loss | 1.0000 |
| 4:7043848:GG:G | donor_gain | 0.9900 |
| 4:7043849:GG:G | donor_gain | 0.9900 |
| 4:7043850:G:GC | donor_loss | 0.9900 |
| 4:7043850:G:GG | donor_gain | 0.9900 |
| 4:7043851:T:G | donor_loss | 0.9900 |
| 4:7044245:G:T | donor_gain | 0.9900 |
| 4:7054061:GGAA:G | acceptor_gain | 0.9900 |
| 4:7043852:GA:G | donor_loss | 0.9800 |
| 4:7054060:A:AG | acceptor_gain | 0.9800 |
| 4:7054061:G:GG | acceptor_gain | 0.9800 |
| 4:7043846:CTGG:C | donor_gain | 0.9700 |
| 4:7054056:TCGTA:T | acceptor_loss | 0.9700 |
| 4:7054057:CGTA:C | acceptor_loss | 0.9700 |
| 4:7054058:GTA:G | acceptor_loss | 0.9700 |
| 4:7054060:A:AC | acceptor_loss | 0.9700 |
| 4:7054061:G:C | acceptor_loss | 0.9700 |
| 4:7053431:A:T | donor_gain | 0.9600 |
| 4:7043842:GAAAC:G | donor_gain | 0.9500 |
| 4:7054061:GGA:G | acceptor_gain | 0.9500 |
| 4:7043847:TGG:T | donor_gain | 0.9400 |
| 4:7043848:GGG:G | donor_gain | 0.9400 |
| 4:7044250:A:T | donor_gain | 0.9400 |
| 4:7050822:G:GT | donor_gain | 0.9300 |
| 4:7050822:G:T | donor_gain | 0.9300 |
| 4:7054051:T:A | acceptor_loss | 0.9300 |
| 4:7044245:G:GT | donor_gain | 0.9100 |
| 4:7054055:A:AG | acceptor_gain | 0.9100 |
| 4:7054057:C:CA | acceptor_gain | 0.9100 |
| 4:7043845:ACTGG:A | donor_gain | 0.8900 |
AlphaMissense
2765 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:7043604:T:C | C9R | 1.000 |
| 4:7043605:G:A | C9Y | 1.000 |
| 4:7043606:C:G | C9W | 1.000 |
| 4:7043646:T:C | C23R | 1.000 |
| 4:7043647:G:A | C23Y | 1.000 |
| 4:7043648:C:G | C23W | 1.000 |
| 4:7043673:T:C | C32R | 1.000 |
| 4:7043682:T:A | C35S | 1.000 |
| 4:7043682:T:C | C35R | 1.000 |
| 4:7043683:G:C | C35S | 1.000 |
| 4:7043787:T:A | W70R | 1.000 |
| 4:7043787:T:C | W70R | 1.000 |
| 4:7043820:G:C | A81P | 1.000 |
| 4:7043842:G:A | G88E | 1.000 |
| 4:7043847:T:A | W90R | 1.000 |
| 4:7043847:T:C | W90R | 1.000 |
| 4:7043849:G:C | W90C | 1.000 |
| 4:7043849:G:T | W90C | 1.000 |
| 4:7054300:G:C | R170P | 1.000 |
| 4:7054429:T:C | L213P | 1.000 |
| 4:7054439:A:C | R216S | 1.000 |
| 4:7054439:A:T | R216S | 1.000 |
| 4:7054447:G:C | R219P | 1.000 |
| 4:7054663:T:C | L291P | 1.000 |
| 4:7054675:G:C | R295P | 1.000 |
| 4:7054855:A:T | E355V | 1.000 |
| 4:7054868:C:G | C359W | 1.000 |
| 4:7054910:G:C | K373N | 1.000 |
| 4:7054910:G:T | K373N | 1.000 |
| 4:7055017:T:C | L409P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000320286 (4:7051204 G>A), RS1000346404 (4:7042451 T>C), RS1000357659 (4:7056998 C>T), RS1000385053 (4:7056686 G>A), RS1000404803 (4:7056060 T>C), RS1000685959 (4:7058065 G>A,C), RS1000716781 (4:7057894 A>G), RS1000855465 (4:7047114 C>G,T), RS1000881456 (4:7052454 G>A), RS1000906214 (4:7052155 C>T), RS1001055777 (4:7047665 G>A), RS10012093 (4:7046096 T>A,C,G), RS1001396147 (4:7052322 C>T), RS1001450283 (4:7058315 G>C,T), RS1001475937 (4:7057284 G>A)
Disease associations
OMIM: gene MIM:608790 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
12 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004607_271 | Plateletcrit | 4.000000e-14 |
| GCST004613_102 | Sum neutrophil eosinophil counts | 8.000000e-10 |
| GCST004614_145 | Granulocyte count | 1.000000e-09 |
| GCST004620_139 | Sum basophil neutrophil counts | 1.000000e-09 |
| GCST004625_80 | Monocyte count | 8.000000e-29 |
| GCST004626_33 | Myeloid white cell count | 5.000000e-12 |
| GCST004629_57 | Neutrophil count | 7.000000e-10 |
| GCST004632_99 | Lymphocyte percentage of white cells | 7.000000e-14 |
| GCST90002393_218 | Monocyte count | 2.000000e-52 |
| GCST90002394_272 | Monocyte percentage of white cells | 8.000000e-29 |
| GCST90002400_423 | Plateletcrit | 4.000000e-39 |
| GCST90002402_678 | Platelet count | 5.000000e-17 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007985 | platelet crit |
| EFO:0004833 | neutrophil count |
| EFO:0004842 | eosinophil count |
| EFO:0007987 | granulocyte count |
| EFO:0005090 | basophil count |
| EFO:0005091 | monocyte count |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0007989 | monocyte percentage of leukocytes |
| EFO:0004309 | platelet count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
14 total (human), top 14 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | decreases expression, increases abundance | 1 |
| Sunitinib | increases expression | 1 |
| Estradiol | decreases expression | 1 |
| Folic Acid | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Manganese | decreases expression, increases abundance | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | increases expression | 1 |
| Urethane | increases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
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.