TSC22D4
gene geneOn this page
Also known as THG-1TILZ2
Summary
TSC22D4 (TSC22 domain family member 4, HGNC:21696) is a protein-coding gene on chromosome 7q22.1, encoding TSC22 domain family protein 4 (Q9Y3Q8). Binds DNA and acts as a transcriptional repressor.
TSC22D4 is a member of the TSC22 domain family of leucine zipper transcriptional regulators (see TSC22D3; MIM 300506) (Kester et al., 1999 [PubMed 10488076]; Fiorenza et al., 2001 [PubMed 11707329]).
Source: NCBI Gene 81628 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 79 total
- MANE Select transcript:
NM_030935
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21696 |
| Approved symbol | TSC22D4 |
| Name | TSC22 domain family member 4 |
| Location | 7q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | THG-1, TILZ2 |
| Ensembl gene | ENSG00000166925 |
| Ensembl biotype | protein_coding |
| OMIM | 611914 |
| Entrez | 81628 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 retained_intron
ENST00000300181, ENST00000393991, ENST00000423266, ENST00000456330, ENST00000493217
RefSeq mRNA: 2 — MANE Select: NM_030935
NM_001303043, NM_030935
CCDS: CCDS5695
Canonical transcript exons
ENST00000300181 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001107839 | 100466519 | 100467168 |
| ENSE00001107845 | 100478794 | 100479214 |
| ENSE00003503628 | 100467552 | 100467600 |
| ENSE00003504362 | 100474274 | 100474440 |
| ENSE00003562321 | 100477277 | 100478307 |
Expression profiles
Bgee: expression breadth ubiquitous, 264 present calls, max score 99.54.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 56.4034 / max 2293.2010, expressed in 1817 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 85206 | 29.9163 | 1815 |
| 85201 | 24.7422 | 236 |
| 85204 | 0.8047 | 501 |
| 85207 | 0.2656 | 86 |
| 85203 | 0.2469 | 103 |
| 85205 | 0.2217 | 65 |
| 85202 | 0.2059 | 56 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| C1 segment of cervical spinal cord | UBERON:0006469 | 99.54 | gold quality |
| spinal cord | UBERON:0002240 | 99.07 | gold quality |
| amygdala | UBERON:0001876 | 98.89 | gold quality |
| peripheral nervous system | UBERON:0000010 | 98.81 | gold quality |
| nerve | UBERON:0001021 | 98.81 | gold quality |
| tibial nerve | UBERON:0001323 | 98.81 | gold quality |
| right frontal lobe | UBERON:0002810 | 98.76 | gold quality |
| nucleus accumbens | UBERON:0001882 | 98.69 | gold quality |
| putamen | UBERON:0001874 | 98.41 | gold quality |
| cingulate cortex | UBERON:0003027 | 98.38 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 98.35 | gold quality |
| granulocyte | CL:0000094 | 98.25 | gold quality |
| caudate nucleus | UBERON:0001873 | 98.25 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 98.18 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 98.13 | gold quality |
| hypothalamus | UBERON:0001898 | 97.72 | gold quality |
| prefrontal cortex | UBERON:0000451 | 97.66 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 97.26 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 97.20 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 97.05 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 96.69 | gold quality |
| corpus callosum | UBERON:0002336 | 96.56 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 96.55 | gold quality |
| substantia nigra | UBERON:0002038 | 96.44 | gold quality |
| midbrain | UBERON:0001891 | 96.35 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 96.32 | gold quality |
| olfactory bulb | UBERON:0002264 | 96.32 | silver quality |
| cerebellar cortex | UBERON:0002129 | 96.27 | gold quality |
| ventral tegmental area | UBERON:0002691 | 96.05 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 96.02 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7316 | yes | 1298.91 |
| E-GEOD-84465 | yes | 791.55 |
| E-MTAB-11121 | yes | 633.88 |
| E-GEOD-137537 | yes | 37.16 |
| E-ANND-3 | yes | 5.10 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
31 targeting TSC22D4, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-320A-3P | 99.77 | 69.73 | 2107 |
| HSA-MIR-320B | 99.77 | 69.73 | 2107 |
| HSA-MIR-320C | 99.77 | 69.73 | 2107 |
| HSA-MIR-320D | 99.77 | 69.73 | 2107 |
| HSA-MIR-4429 | 99.77 | 69.62 | 2111 |
| HSA-MIR-3140-5P | 99.39 | 69.04 | 1136 |
| HSA-MIR-5582-5P | 99.27 | 71.42 | 1879 |
| HSA-MIR-4667-3P | 99.26 | 65.45 | 1608 |
| HSA-MIR-4784 | 99.15 | 67.41 | 1733 |
| HSA-MIR-939-3P | 98.97 | 65.07 | 2347 |
| HSA-MIR-3150B-3P | 98.81 | 67.21 | 1728 |
| HSA-MIR-2467-3P | 98.65 | 67.18 | 1969 |
| HSA-MIR-4700-5P | 98.63 | 67.43 | 1915 |
| HSA-MIR-8089 | 97.74 | 66.21 | 1698 |
| HSA-MIR-4667-5P | 97.61 | 66.67 | 1683 |
| HSA-MIR-4689 | 96.97 | 65.79 | 1209 |
| HSA-MIR-6858-5P | 96.05 | 64.59 | 1020 |
| HSA-MIR-6822-5P | 93.94 | 66.34 | 812 |
Literature-anchored findings (GeneRIF, showing 8)
- Long form of TSC22DF is evolutionarily conserved and has growth-regulating potential. (PMID:20149264)
- tRNA(His) guanylyltransferase (THG1), a unique 3’-5’ nucleotidyl transferase, shares unexpected structural homology with canonical 5’-3’ DNA polymerases. (PMID:21059936)
- Data suggest transcription factor TSC22D4 inhibition as an insulin sensitizing option in diabetes therapy. (PMID:27827363)
- Promotion of cellular senescence by THG-1/TSC22D4 knockout through activation of JUNB. (PMID:31806366)
- THG-1 suppresses SALL4 degradation to induce stemness genes and tumorsphere formation through antagonizing NRBP1 in squamous cell carcinoma cells. (PMID:31864704)
- Hepatocyte-specific activity of TSC22D4 triggers progressive NAFLD by impairing mitochondrial function. (PMID:35378329)
- TSC22D4 promotes TGFbeta1-induced activation of hepatic stellate cells. (PMID:35714570)
- Promotion of squamous cell carcinoma tumorigenesis by oncogene-mediated THG-1/TSC22D4 phosphorylation. (PMID:37607779)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Gm57848 | ENSMUSG00000144222 |
| mus_musculus | Tsc22d4 | ENSMUSG00000144223 |
| rattus_norvegicus | Tsc22d4 | ENSRNOG00000050805 |
| drosophila_melanogaster | bun | FBGN0259176 |
| caenorhabditis_elegans | WBGENE00011824 | |
| caenorhabditis_elegans | WBGENE00012994 |
Paralogs (3): TSC22D1 (ENSG00000102804), TSC22D3 (ENSG00000157514), TSC22D2 (ENSG00000196428)
Protein
Protein identifiers
TSC22 domain family protein 4 — Q9Y3Q8 (reviewed: Q9Y3Q8)
Alternative names: TSC22-related-inducible leucine zipper protein 2
All UniProt accessions (3): Q9Y3Q8, H7BZ77, H7C0M8
UniProt curated annotations — full annotation on UniProt →
Function. Binds DNA and acts as a transcriptional repressor. Involved in the regulation of systematic glucose homeostasis and insulin sensitivity, via transcriptional repression of downstream insulin signaling targets such as OBP2A/LCN13. Acts as a negative regulator of lipogenic gene expression in hepatocytes and thereby mediates the control of very low-density lipoprotein release. May play a role in neurite elongation and survival.
Subunit / interactions. Forms a homodimer or heterodimer. Forms a heterodimer with TSC22D1 isoforms 1 and 2. Interacts with NRBP1.
Subcellular location. Nucleus. Cytoplasm. Cell projection. Dendrite. Synapse.
Tissue specificity. Expressed in the liver.
Similarity. Belongs to the TSC-22/Dip/Bun family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y3Q8-1 | 1 | yes |
| Q9Y3Q8-2 | 2 |
RefSeq proteins (2): NP_001289972, NP_112197* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000580 | TSC22/Bun | Family |
| IPR042553 | TSC22D4 | Family |
| IPR047862 | TSC22/BUN_CS | Conserved_site |
Pfam: PF01166
UniProt features (24 total): modified residue 14, region of interest 4, compositionally biased region 2, chain 1, splice variant 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y3Q8-F1 | 57.99 | 0.13 |
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 (14): 165, 187, 189, 190, 211, 225, 229, 260, 264, 279, 370, 49, 57, 62
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 207 (showing top):
TAATAAT_MIR126, GOBP_NEURON_PROJECTION_EXTENSION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_GROWTH, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, GOBP_NEUROGENESIS, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, CAGCTG_AP4_Q5, GTGCCTT_MIR506, BROWNE_HCMV_INFECTION_24HR_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, ZIC1_01, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS
GO Biological Process (7): negative regulation of transcription by RNA polymerase II (GO:0000122), response to osmotic stress (GO:0006970), glucose homeostasis (GO:0042593), negative regulation of DNA-templated transcription (GO:0045892), neuron cellular homeostasis (GO:0070050), neuron projection extension (GO:1990138), regulation of transcription by RNA polymerase II (GO:0006357)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (5): nucleus (GO:0005634), cytoplasm (GO:0005737), dendrite (GO:0030425), synapse (GO:0045202), cell projection (GO:0042995)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transcription by RNA polymerase II | 2 |
| regulation of DNA-templated transcription | 2 |
| cellular anatomical structure | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| response to stress | 1 |
| response to abiotic stimulus | 1 |
| carbohydrate homeostasis | 1 |
| DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| cellular homeostasis | 1 |
| developmental cell growth | 1 |
| neuron projection morphogenesis | 1 |
| developmental growth involved in morphogenesis | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| neuron projection | 1 |
| dendritic tree | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
764 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TSC22D4 | LHX4 | Q969G2 | 650 |
| TSC22D4 | LHX3 | Q9UBR4 | 588 |
| TSC22D4 | SLCO6A1 | Q86UG4 | 490 |
| TSC22D4 | NYAP1 | Q6ZVC0 | 450 |
| TSC22D4 | SPACDR | Q8IZ16 | 448 |
| TSC22D4 | Q5T8A5 | Q5T8A5 | 434 |
| TSC22D4 | ZC2HC1B | Q5TFG8 | 419 |
| TSC22D4 | CTNNA1 | P35221 | 400 |
| TSC22D4 | GIGYF1 | O75420 | 393 |
| TSC22D4 | WDR53 | Q7Z5U6 | 389 |
| TSC22D4 | TGFB1 | P01137 | 385 |
| TSC22D4 | TSC22D1 | Q15714 | 383 |
| TSC22D4 | ZCWPW1 | Q9H0M4 | 377 |
| TSC22D4 | FAM117B | Q6P1L5 | 366 |
| TSC22D4 | PPP1R35 | Q8TAP8 | 360 |
IntAct
208 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NRBP1 | TSC22D4 | psi-mi:“MI:0915”(physical association) | 0.930 |
| TSC22D4 | NRBP1 | psi-mi:“MI:0915”(physical association) | 0.930 |
| NRBP2 | TSC22D4 | psi-mi:“MI:0915”(physical association) | 0.840 |
| MAD2L1 | TSC22D4 | psi-mi:“MI:0915”(physical association) | 0.800 |
| TSC22D4 | MAD2L1 | psi-mi:“MI:0915”(physical association) | 0.800 |
| TSC22D4 | PIN1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| PIN1 | TSC22D4 | psi-mi:“MI:0915”(physical association) | 0.780 |
| TSC22D4 | KEAP1 | psi-mi:“MI:0915”(physical association) | 0.760 |
| TSC22D4 | KEAP1 | psi-mi:“MI:0403”(colocalization) | 0.760 |
| NRBP1 | TSC22D2 | psi-mi:“MI:0914”(association) | 0.730 |
| TSC22D4 | POLR1C | psi-mi:“MI:0915”(physical association) | 0.720 |
| ZBTB24 | TSC22D4 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TSC22D4 | ZBTB24 | psi-mi:“MI:0915”(physical association) | 0.720 |
| POLR1C | TSC22D4 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TSC22D4 | ZMYND10 | psi-mi:“MI:0915”(physical association) | 0.700 |
BioGRID (212): TSC22D4 (Two-hybrid), TSC22D4 (Two-hybrid), TSC22D4 (Two-hybrid), TSC22D4 (Two-hybrid), TSC22D4 (Two-hybrid), TSC22D4 (Two-hybrid), TSC22D4 (Two-hybrid), TSC22D4 (Two-hybrid), TSC22D4 (Two-hybrid), TSC22D4 (Two-hybrid), TSC22D4 (Two-hybrid), TSC22D4 (Two-hybrid), TSC22D4 (Two-hybrid), TSC22D4 (Two-hybrid), TSC22D4 (Two-hybrid)
ESM2 similar proteins: A2A7S8, A5D7K1, A5PK23, B1AXH1, F1QGH6, O94885, O95402, Q08495, Q08DM1, Q3T044, Q499V8, Q5HYW2, Q5PQP4, Q5R4B6, Q5R8Q8, Q5SYE7, Q5T0Z8, Q5U2R6, Q6PDH0, Q6PFX7, Q6PGN9, Q6ZVC0, Q7TT28, Q80U35, Q80VC9, Q80Z38, Q86UU1, Q86WR7, Q8BI29, Q8C5R2, Q8CAF4, Q8JZX9, Q8K4J6, Q8N1G1, Q8TF72, Q91Z58, Q969V6, Q96A73, Q9BW04, Q9D0P7
Diamond homologs: E9Q7M2, O75157, P62500, P62501, P80220, Q22544, Q24522, Q24523, Q27I66, Q3B8N7, Q3MHL6, Q5R4H1, Q5RED5, Q99576, Q9EQN3, Q9EQZ1, Q9Y3Q8, Q9Z2S7, Q15714, Q4R4H5, Q91012
SIGNOR signaling
0 interactions.
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.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| SARS-CoV-1-host interactions | 6 | 17.9× | 2e-04 |
| SARS-CoV-1 Infection | 6 | 14.5× | 4e-04 |
| G2/M Checkpoints | 5 | 11.4× | 3e-03 |
| TP53 Regulates Metabolic Genes | 5 | 11.0× | 3e-03 |
| SARS-CoV Infections | 8 | 7.5× | 8e-04 |
| Cell Cycle Checkpoints | 5 | 7.5× | 9e-03 |
| Transcriptional Regulation by TP53 | 7 | 7.4× | 2e-03 |
| Viral Infection Pathways | 10 | 5.2× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
79 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 60 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
728 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:100467139:C:CT | acceptor_gain | 1.0000 |
| 7:100467599:CA:C | acceptor_gain | 1.0000 |
| 7:100467601:C:CC | acceptor_gain | 1.0000 |
| 7:100474270:CTA:C | donor_loss | 1.0000 |
| 7:100474272:A:AC | donor_gain | 1.0000 |
| 7:100474273:C:CC | donor_gain | 1.0000 |
| 7:100474273:CCTA:C | donor_loss | 1.0000 |
| 7:100474466:CACA:C | acceptor_gain | 1.0000 |
| 7:100474469:A:C | acceptor_gain | 1.0000 |
| 7:100467166:GTCC:G | acceptor_loss | 0.9900 |
| 7:100467167:TC:T | acceptor_gain | 0.9900 |
| 7:100467168:CC:C | acceptor_gain | 0.9900 |
| 7:100467179:C:T | acceptor_gain | 0.9900 |
| 7:100467548:TTACC:T | donor_loss | 0.9900 |
| 7:100467550:A:AC | donor_gain | 0.9900 |
| 7:100467550:A:AT | donor_loss | 0.9900 |
| 7:100467551:C:CC | donor_gain | 0.9900 |
| 7:100467597:GCCA:G | acceptor_gain | 0.9900 |
| 7:100467598:CCA:C | acceptor_gain | 0.9900 |
| 7:100467598:CCAC:C | acceptor_gain | 0.9900 |
| 7:100467599:CAC:C | acceptor_gain | 0.9900 |
| 7:100474273:CCTAT:C | donor_gain | 0.9900 |
| 7:100474438:CAC:C | acceptor_gain | 0.9900 |
| 7:100474441:CTGGA:C | acceptor_loss | 0.9900 |
| 7:100474442:T:C | acceptor_loss | 0.9900 |
| 7:100474449:G:T | acceptor_gain | 0.9900 |
| 7:100467164:AAGTC:A | acceptor_gain | 0.9800 |
| 7:100467166:GTC:G | acceptor_gain | 0.9800 |
| 7:100467169:C:CC | acceptor_gain | 0.9800 |
| 7:100467179:C:CT | acceptor_gain | 0.9800 |
AlphaMissense
2501 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:100467116:A:G | L344P | 1.000 |
| 7:100467137:A:T | V337D | 1.000 |
| 7:100467149:A:G | L333P | 1.000 |
| 7:100467149:A:T | L333H | 1.000 |
| 7:100467153:G:C | H332D | 1.000 |
| 7:100467156:A:G | S331P | 1.000 |
| 7:100467157:C:A | K330N | 1.000 |
| 7:100467157:C:G | K330N | 1.000 |
| 7:100467557:C:G | A325P | 1.000 |
| 7:100467565:A:C | I322S | 1.000 |
| 7:100467565:A:T | I322N | 1.000 |
| 7:100477769:C:A | W90C | 1.000 |
| 7:100477769:C:G | W90C | 1.000 |
| 7:100477771:A:G | W90R | 1.000 |
| 7:100477771:A:T | W90R | 1.000 |
| 7:100477823:G:C | F72L | 1.000 |
| 7:100477823:G:T | F72L | 1.000 |
| 7:100477824:A:G | F72S | 1.000 |
| 7:100477825:A:G | F72L | 1.000 |
| 7:100478004:A:G | I12T | 1.000 |
| 7:100467053:A:G | L365P | 0.999 |
| 7:100467074:A:G | L358P | 0.999 |
| 7:100467104:A:G | I348T | 0.999 |
| 7:100467134:C:G | R338P | 0.999 |
| 7:100467141:C:G | A336P | 0.999 |
| 7:100467150:G:A | L333F | 0.999 |
| 7:100467151:G:C | H332Q | 0.999 |
| 7:100467151:G:T | H332Q | 0.999 |
| 7:100467158:T:A | K330M | 0.999 |
| 7:100467159:T:C | K330E | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000076772 (7:100468996 C>A,T), RS1000131233 (7:100474997 C>G,T), RS1000423470 (7:100474864 C>A), RS1000500983 (7:100477085 G>C), RS1000875952 (7:100467440 G>A,C), RS1001036218 (7:100479780 G>C), RS1001053067 (7:100470387 G>A), RS1001136562 (7:100476680 G>A), RS1001461507 (7:100473173 C>T), RS1001504587 (7:100478335 G>C), RS1002043366 (7:100478118 G>C), RS1002068328 (7:100472100 G>A), RS1002133679 (7:100467475 A>G,T), RS1002435006 (7:100472064 C>T), RS1002591435 (7:100473204 G>A,C)
Disease associations
OMIM: gene MIM:611914 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004603_40 | Platelet count | 6.000000e-15 |
| GCST010002_259 | Refractive error | 3.000000e-16 |
| GCST010702_48 | Subcortical volume (MOSTest) | 6.000000e-10 |
| GCST010703_289 | Brain morphology (MOSTest) | 6.000000e-15 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004309 | platelet count |
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression | 2 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, affects expression | 2 |
| Ozone | increases oxidation, increases abundance, affects expression, affects cotreatment | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| bisphenol A | decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | decreases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Selenomethionine | affects expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | increases expression | 1 |
| Urethane | increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_AW46 | K562 eGFP-TSC22D4 | Cancer cell line | Female |
| CVCL_B2JT | Abcam HeLa TSC22D4 KO | 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.