TADA1
gene geneOn this page
Also known as STAF42ADA1hADA1HFI1
Summary
TADA1 (transcriptional adaptor 1, HGNC:30631) is a protein-coding gene on chromosome 1q24.1, encoding Transcriptional adapter 1 (Q96BN2). Probably involved in transcriptional regulation. It is a selective cancer dependency (DepMap: 26.7% of cell lines).
TADA1L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).
Source: NCBI Gene 117143 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 61 total
- Cancer dependency (DepMap): dependent in 26.7% of screened cell lines
- MANE Select transcript:
NM_053053
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30631 |
| Approved symbol | TADA1 |
| Name | transcriptional adaptor 1 |
| Location | 1q24.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | STAF42, ADA1, hADA1, HFI1 |
| Ensembl gene | ENSG00000152382 |
| Ensembl biotype | protein_coding |
| OMIM | 612763 |
| Entrez | 117143 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 5 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000367874, ENST00000467021, ENST00000910858, ENST00000910859, ENST00000910860, ENST00000972177
RefSeq mRNA: 1 — MANE Select: NM_053053
NM_053053
CCDS: CCDS1255
Canonical transcript exons
ENST00000367874 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001004938 | 166862203 | 166862412 |
| ENSE00001004941 | 166869445 | 166869510 |
| ENSE00001004942 | 166869763 | 166869854 |
| ENSE00001067415 | 166863824 | 166863921 |
| ENSE00001445824 | 166876160 | 166876264 |
| ENSE00003509196 | 166856510 | 166857719 |
| ENSE00003534704 | 166858119 | 166858281 |
| ENSE00003692736 | 166860186 | 166860337 |
Expression profiles
Bgee: expression breadth ubiquitous, 247 present calls, max score 97.51.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.9040 / max 172.4219, expressed in 1733 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 15747 | 10.7969 | 1695 |
| 15748 | 1.1071 | 684 |
Top tissues by expression
251 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 97.51 | gold quality |
| oocyte | CL:0000023 | 94.96 | gold quality |
| cortical plate | UBERON:0005343 | 89.49 | gold quality |
| ganglionic eminence | UBERON:0004023 | 88.56 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.29 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 88.19 | gold quality |
| ileal mucosa | UBERON:0000331 | 87.32 | gold quality |
| right lobe of liver | UBERON:0001114 | 87.08 | gold quality |
| ventricular zone | UBERON:0003053 | 86.84 | gold quality |
| prefrontal cortex | UBERON:0000451 | 86.64 | gold quality |
| islet of Langerhans | UBERON:0000006 | 86.46 | gold quality |
| tibialis anterior | UBERON:0001385 | 85.58 | gold quality |
| cartilage tissue | UBERON:0002418 | 85.35 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 85.16 | gold quality |
| liver | UBERON:0002107 | 85.11 | gold quality |
| adult organism | UBERON:0007023 | 85.01 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 84.96 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 84.88 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 84.74 | gold quality |
| biceps brachii | UBERON:0001507 | 83.77 | gold quality |
| frontal cortex | UBERON:0001870 | 83.77 | gold quality |
| neocortex | UBERON:0001950 | 83.54 | gold quality |
| deltoid | UBERON:0001476 | 82.84 | gold quality |
| cerebral cortex | UBERON:0000956 | 82.79 | gold quality |
| placenta | UBERON:0001987 | 82.73 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 82.71 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 82.56 | gold quality |
| cerebellar cortex | UBERON:0002129 | 82.52 | gold quality |
| rectum | UBERON:0001052 | 82.35 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.19 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-3929 | yes | 148.27 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
79 targeting TADA1, 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-6798-5P | 100.00 | 65.77 | 699 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| 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-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-2052 | 99.79 | 69.37 | 2031 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 26.7% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 1)
- Differences between mother and fetus in ADA(1) phenotype may influence the ratio BW/PW in healthy women and reproductive success in RSA women. (PMID:22287124)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | TADA1 | ENSDARG00000100031 |
| mus_musculus | Tada1 | ENSMUSG00000026563 |
| rattus_norvegicus | Tada1 | ENSRNOG00000003816 |
| drosophila_melanogaster | Ada1-1 | FBGN0051865 |
| drosophila_melanogaster | Ada1-2 | FBGN0051866 |
Protein
Protein identifiers
Transcriptional adapter 1 — Q96BN2 (reviewed: Q96BN2)
Alternative names: SPT3-associated factor 42, Transcriptional adapter 1-like protein
All UniProt accessions (1): Q96BN2
UniProt curated annotations — full annotation on UniProt →
Function. Probably involved in transcriptional regulation.
Subunit / interactions. Component of the STAGA transcription coactivator-HAT complex, at least composed of SUPT3H, GCN5L2, TAF5L, TAF6L, SUPT7L, TADA3L, TAD1L, TAF10, TAF12, TRRAP and TAF9.
Subcellular location. Nucleus.
Similarity. Belongs to the TADA1 family.
RefSeq proteins (1): NP_444281* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR024738 | Hfi1/Tada1 | Family |
Pfam: PF12767
UniProt features (19 total): helix 8, strand 3, turn 2, compositionally biased region 2, chain 1, region of interest 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9RDK | ELECTRON MICROSCOPY | 2.41 |
| 7KTR | ELECTRON MICROSCOPY | 2.93 |
| 8H7G | ELECTRON MICROSCOPY | 3.7 |
| 7KTS | ELECTRON MICROSCOPY | 19.09 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96BN2-F1 | 77.95 | 0.38 |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-3214847 | HATs acetylate histones |
| R-HSA-3247509 | Chromatin modifying enzymes |
| R-HSA-4839726 | Chromatin organization |
MSigDB gene sets: 141 (showing top):
NAGY_STAGA_COMPONENTS_HUMAN, GOBP_REGULATION_OF_DNA_REPAIR, TTGGGAG_MIR150, PATIL_LIVER_CANCER, MODULE_239, USF_01, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_RNA_SPLICING, GOBP_DNA_DAMAGE_RESPONSE, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS, GOBP_REGULATION_OF_RNA_SPLICING, GOCC_SAGA_COMPLEX, GOCC_TRANSFERASE_COMPLEX, GOCC_SAGA_TYPE_COMPLEX, USF2_Q6
GO Biological Process (4): regulation of DNA repair (GO:0006282), 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 (1): transcription coactivator activity (GO:0003713)
GO Cellular Component (6): SAGA complex (GO:0000124), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), focal adhesion (GO:0005925), SAGA-type complex (GO:0070461)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Chromatin modifying enzymes | 1 |
| Chromatin organization | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 2 |
| cellular anatomical structure | 2 |
| DNA repair | 1 |
| regulation of DNA metabolic process | 1 |
| regulation of cellular response to stress | 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 |
| SAGA-type complex | 1 |
| DUBm complex | 1 |
| peptidase complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| cell-substrate junction | 1 |
| histone acetyltransferase complex | 1 |
Protein interactions and networks
STRING
1443 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TADA1 | KAT2A | Q92830 | 848 |
| TADA1 | KAT2B | Q92831 | 835 |
| TADA1 | TAF9 | Q16594 | 800 |
| TADA1 | ATXN7 | O15265 | 759 |
| TADA1 | SGF29 | Q96ES7 | 732 |
| TADA1 | TAF12 | Q16514 | 713 |
| TADA1 | SUPT20H | Q8NEM7 | 667 |
| TADA1 | TAF4 | O00268 | 644 |
| TADA1 | SUPT7L | O94864 | 611 |
| TADA1 | TADA3 | O75528 | 588 |
| TADA1 | ENY2 | Q9NPA8 | 564 |
| TADA1 | TRRAP | Q9Y4A5 | 553 |
| TADA1 | TAF6L | Q9Y6J9 | 550 |
| TADA1 | TAF6 | P49848 | 543 |
| TADA1 | TAF5 | Q15542 | 491 |
IntAct
57 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SGF29 | NDC80 | psi-mi:“MI:0914”(association) | 0.840 |
| TAF12 | TAF4 | psi-mi:“MI:0914”(association) | 0.760 |
| TRRAP | ATXN7 | psi-mi:“MI:0914”(association) | 0.740 |
| TADA3 | TADA2A | 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 |
| TADA1 | TADA3 | psi-mi:“MI:0914”(association) | 0.640 |
| FOXR2 | NME2P1 | 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 |
| TADA2B | SUPT3H | psi-mi:“MI:0914”(association) | 0.530 |
| TADA1 | PTCHD1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TRRAP | TTI2 | psi-mi:“MI:0914”(association) | 0.350 |
| SGF29 | TRRAP | psi-mi:“MI:0914”(association) | 0.350 |
| HNRNPU | psi-mi:“MI:0914”(association) | 0.350 | |
| MKI67 | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.350 |
| ATXN7L3 | USP27X | psi-mi:“MI:0914”(association) | 0.350 |
| SGF29 | DTNB | psi-mi:“MI:0914”(association) | 0.350 |
| PLAC1 | OBSL1 | psi-mi:“MI:0914”(association) | 0.350 |
| TADA3 | TADA2A | psi-mi:“MI:0914”(association) | 0.350 |
| USP22 | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| ATXN7 | SUPT3H | psi-mi:“MI:0914”(association) | 0.350 |
| SGF29 | USP27X | psi-mi:“MI:0914”(association) | 0.350 |
| ENY2 | EIF3CL | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (148): TADA1 (Protein-peptide), TADA1 (Affinity Capture-MS), TADA1 (Affinity Capture-MS), TADA1 (Affinity Capture-MS), TADA1 (Affinity Capture-MS), TAF6L (Affinity Capture-MS), TRRAP (Affinity Capture-MS), TAF9B (Affinity Capture-MS), TAF9 (Affinity Capture-MS), TAF10 (Affinity Capture-MS), HCCS (Affinity Capture-MS), TAF5L (Affinity Capture-MS), TAF12 (Affinity Capture-MS), SUPT7L (Affinity Capture-MS), KAT2B (Affinity Capture-MS)
ESM2 similar proteins: A4IFQ0, A6QL63, A6QR06, A7MAZ4, O75486, P54198, Q08BT5, Q0VA03, Q13769, Q14161, Q15022, Q1LVW0, Q28J24, Q3B7L5, Q5BJQ7, Q5RDB9, Q5ZJA9, Q5ZMS1, Q61666, Q62784, Q66H91, Q68FF6, Q68FX7, Q6DEW4, Q6GMF2, Q6GQW0, Q6ZPY2, Q76JQ2, Q7Z7C8, Q7ZYA2, Q80U70, Q8BIK4, Q8BKT7, Q8C0Q9, Q8NFG4, Q8QZS3, Q96BN2, Q96MD2, Q96PE3, Q99LM9
Diamond homologs: A6QR06, Q5BJQ7, Q5RDB9, Q6DEW4, Q6GMF2, Q6NWA8, Q96BN2, Q99LM9, Q8IP99, Q8IPA1
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TADA1 | “form complex” | “SAGA complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 68 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 |
|---|---|---|---|
| HATs acetylate histones | 13 | 24.0× | 9e-13 |
| Chromatin organization | 11 | 20.9× | 4e-10 |
| Chromatin modifying enzymes | 11 | 18.5× | 9e-10 |
| mRNA Polyadenylation | 5 | 10.2× | 6e-03 |
| Processing of Capped Intron-Containing Pre-mRNA | 5 | 9.6× | 7e-03 |
| Ub-specific processing proteases | 7 | 8.7× | 1e-03 |
| mRNA Splicing - Major Pathway | 6 | 7.6× | 6e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of DNA repair | 16 | 68.0× | 2e-23 |
| regulation of RNA splicing | 15 | 50.5× | 6e-20 |
| RNA polymerase II preinitiation complex assembly | 5 | 20.9× | 2e-04 |
| positive regulation of transcription initiation by RNA polymerase II | 5 | 20.9× | 2e-04 |
| transcription by RNA polymerase II | 7 | 7.6× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
61 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 45 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1187 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:166858116:TACCT:T | donor_loss | 1.0000 |
| 1:166858117:A:AC | donor_gain | 1.0000 |
| 1:166858118:C:CC | donor_gain | 1.0000 |
| 1:166858118:C:CT | donor_loss | 1.0000 |
| 1:166858118:CCTG:C | donor_gain | 1.0000 |
| 1:166858279:GGG:G | acceptor_gain | 1.0000 |
| 1:166858282:C:CC | acceptor_gain | 1.0000 |
| 1:166860181:TTTA:T | donor_loss | 1.0000 |
| 1:166860182:TTAC:T | donor_loss | 1.0000 |
| 1:166860183:TACC:T | donor_loss | 1.0000 |
| 1:166860184:A:AT | donor_loss | 1.0000 |
| 1:166860185:CCTTT:C | donor_gain | 1.0000 |
| 1:166860211:C:CT | donor_gain | 1.0000 |
| 1:166860212:T:TT | donor_gain | 1.0000 |
| 1:166860333:TGATT:T | acceptor_gain | 1.0000 |
| 1:166860334:GATT:G | acceptor_gain | 1.0000 |
| 1:166860335:ATT:A | acceptor_gain | 1.0000 |
| 1:166860336:TT:T | acceptor_gain | 1.0000 |
| 1:166860336:TTC:T | acceptor_loss | 1.0000 |
| 1:166860338:C:CA | acceptor_loss | 1.0000 |
| 1:166860338:C:CC | acceptor_gain | 1.0000 |
| 1:166860340:G:C | acceptor_gain | 1.0000 |
| 1:166860340:G:GC | acceptor_gain | 1.0000 |
| 1:166860345:CA:C | acceptor_gain | 1.0000 |
| 1:166860346:A:AC | acceptor_gain | 1.0000 |
| 1:166860346:A:C | acceptor_gain | 1.0000 |
| 1:166860349:C:CT | acceptor_gain | 1.0000 |
| 1:166862234:T:TA | donor_gain | 1.0000 |
| 1:166862408:CTATG:C | acceptor_gain | 1.0000 |
| 1:166863822:A:AC | donor_gain | 1.0000 |
AlphaMissense
2197 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:166869477:A:G | L67P | 1.000 |
| 1:166869484:C:G | A65P | 1.000 |
| 1:166869486:A:G | L64P | 1.000 |
| 1:166869489:A:G | L63P | 1.000 |
| 1:166869491:G:C | F62L | 1.000 |
| 1:166869491:G:T | F62L | 1.000 |
| 1:166869492:A:G | F62S | 1.000 |
| 1:166869493:A:G | F62L | 1.000 |
| 1:166869789:G:T | A47D | 1.000 |
| 1:166869801:A:G | F43S | 1.000 |
| 1:166869809:T:A | K40N | 1.000 |
| 1:166869809:T:G | K40N | 1.000 |
| 1:166869827:G:C | F34L | 1.000 |
| 1:166869827:G:T | F34L | 1.000 |
| 1:166869828:A:G | F34S | 1.000 |
| 1:166869829:A:G | F34L | 1.000 |
| 1:166869832:A:G | W33R | 1.000 |
| 1:166869832:A:T | W33R | 1.000 |
| 1:166869840:A:G | L30P | 1.000 |
| 1:166869853:A:G | Y26H | 1.000 |
| 1:166860330:A:G | L183P | 0.999 |
| 1:166862267:G:T | A159D | 0.999 |
| 1:166862268:C:G | A159P | 0.999 |
| 1:166862404:G:C | F113L | 0.999 |
| 1:166862404:G:T | F113L | 0.999 |
| 1:166862405:A:G | F113S | 0.999 |
| 1:166862406:A:G | F113L | 0.999 |
| 1:166869469:A:G | C70R | 0.999 |
| 1:166869480:A:C | I66S | 0.999 |
| 1:166869480:A:T | I66N | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000105477 (1:166871590 A>G), RS1000202861 (1:166871903 T>C), RS1000334620 (1:166877012 T>C), RS1000477805 (1:166871837 A>C), RS1000545919 (1:166866174 G>A), RS1000580079 (1:166865845 T>A,G), RS1000654638 (1:166863687 C>G,T), RS1000725813 (1:166865388 T>A,C), RS1000814995 (1:166858678 G>C), RS1000985930 (1:166863466 ACCAGGACC>A), RS1001504450 (1:166876680 C>T), RS1001615595 (1:166878247 G>C), RS1001665912 (1:166857913 TTTTTC>T), RS1001751929 (1:166873176 C>A), RS1001890430 (1:166875790 G>A)
Disease associations
OMIM: gene MIM:612763 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010697_48 | Cortical surface area (min-P) | 3.000000e-13 |
| GCST010698_42 | Subcortical volume (min-P) | 8.000000e-12 |
| GCST010699_55 | Brain morphology (min-P) | 2.000000e-40 |
| GCST010700_39 | Cortical thickness (MOSTest) | 4.000000e-08 |
| GCST010701_100 | Cortical surface area (MOSTest) | 1.000000e-12 |
| GCST010702_40 | Subcortical volume (MOSTest) | 2.000000e-10 |
| GCST010703_26 | Brain morphology (MOSTest) | 5.000000e-09 |
| GCST90002398_500 | Neutrophil count | 2.000000e-15 |
| GCST90002407_12 | White blood cell count | 3.000000e-11 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
| EFO:0004833 | neutrophil count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases methylation, affects expression, decreases expression | 4 |
| trichostatin A | affects cotreatment, decreases expression, affects expression | 3 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 3 |
| Benzo(a)pyrene | affects methylation, decreases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Gold | decreases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Quercetin | decreases expression | 1 |
| Silver | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | 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.