TGIF2
gene geneOn this page
Summary
TGIF2 (TGFB induced factor homeobox 2, HGNC:15764) is a protein-coding gene on chromosome 20q11.23, encoding Homeobox protein TGIF2 (Q9GZN2). Transcriptional repressor, which probably repress transcription by binding directly the 5’-CTGTCAA-3’ DNA sequence or by interacting with TGF-beta activated SMAD proteins.
The protein encoded by this gene is a DNA-binding homeobox protein and a transcriptional repressor, which appears to repress transcription by recruiting histone deacetylases to TGF beta-responsive genes. This gene is amplified and over-expressed in some ovarian cancers. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. Read-through transcription also exists between this gene and the neighboring downstream C20orf24 (chromosome 20 open reading frame 24) gene.
Source: NCBI Gene 60436 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 23 total
- MANE Select transcript:
NM_021809
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15764 |
| Approved symbol | TGIF2 |
| Name | TGFB induced factor homeobox 2 |
| Location | 20q11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000118707 |
| Ensembl biotype | protein_coding |
| OMIM | 607294 |
| Entrez | 60436 |
Gene structure
Transcript identifiers
Ensembl transcripts: 23 — 23 protein_coding
ENST00000373872, ENST00000373874, ENST00000557885, ENST00000558028, ENST00000558465, ENST00000560025, ENST00000561398, ENST00000611732, ENST00000650844, ENST00000874678, ENST00000874679, ENST00000874680, ENST00000874681, ENST00000874682, ENST00000914035, ENST00000914036, ENST00000914037, ENST00000914038, ENST00000914039, ENST00000914040, ENST00000914041, ENST00000914042, ENST00000945722
RefSeq mRNA: 4 — MANE Select: NM_021809
NM_001199513, NM_001199514, NM_001199515, NM_021809
CCDS: CCDS13278
Canonical transcript exons
ENST00000373872 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001104469 | 36573597 | 36573745 |
| ENSE00001461802 | 36590910 | 36593950 |
| ENSE00003658897 | 36578741 | 36578966 |
Expression profiles
Bgee: expression breadth ubiquitous, 231 present calls, max score 93.77.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.7666 / max 169.5902, expressed in 1750 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 184440 | 15.1812 | 1732 |
| 184442 | 1.7395 | 593 |
| 184439 | 0.5854 | 341 |
Top tissues by expression
278 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 93.77 | gold quality |
| embryo | UBERON:0000922 | 90.91 | gold quality |
| ganglionic eminence | UBERON:0004023 | 90.09 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 88.83 | silver quality |
| sural nerve | UBERON:0015488 | 88.49 | gold quality |
| endometrium epithelium | UBERON:0004811 | 87.71 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.65 | gold quality |
| buccal mucosa cell | CL:0002336 | 86.38 | gold quality |
| granulocyte | CL:0000094 | 84.93 | gold quality |
| right uterine tube | UBERON:0001302 | 84.85 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.84 | gold quality |
| leukocyte | CL:0000738 | 84.37 | gold quality |
| monocyte | CL:0000576 | 84.33 | gold quality |
| oocyte | CL:0000023 | 84.22 | gold quality |
| lymph node | UBERON:0000029 | 84.18 | gold quality |
| mononuclear cell | CL:0000842 | 84.15 | gold quality |
| secondary oocyte | CL:0000655 | 83.86 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 83.79 | gold quality |
| adrenal tissue | UBERON:0018303 | 83.49 | gold quality |
| body of uterus | UBERON:0009853 | 83.09 | gold quality |
| ovary | UBERON:0000992 | 83.07 | gold quality |
| tonsil | UBERON:0002372 | 82.98 | gold quality |
| pancreatic ductal cell | CL:0002079 | 82.73 | gold quality |
| body of pancreas | UBERON:0001150 | 82.61 | gold quality |
| bone marrow cell | CL:0002092 | 82.54 | gold quality |
| fallopian tube | UBERON:0003889 | 82.45 | gold quality |
| spleen | UBERON:0002106 | 82.33 | gold quality |
| left ovary | UBERON:0002119 | 81.97 | gold quality |
| blood | UBERON:0000178 | 81.86 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 81.74 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.91 |
Regulation
Is transcription factor: yes
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0797.1 | TGIF2 | TALE-type homeo domain factors |
JASPAR matrix evidence (PMIDs): PMID:8537382
Upstream regulators (CollecTRI, top): HDAC4
miRNA regulators (miRDB)
124 targeting TGIF2, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
Literature-anchored findings (GeneRIF, showing 16)
- Shows that the homologous mouse Tgif2 gene is necessary for gastrulation. (PMID:20040491)
- Corneal fibroblasts demonstrate the expression of TGIF1 and TGIF2 transcription factors. These transcriptional repressors are critical, at least partially, in mediating the antifibrotic effect of vorinostat in the cornea. (PMID:26330748)
- miR-34a could inhibit tumor invasion and metastasis in gastric cancer by targeting Tgif2 (PMID:26464633)
- expression of miR-148a was regulated by DNA methylation and targeted by TGIF2. Its methylation may be a potential prognostic indicator in skin cancer (PMID:26638007)
- Data show that TGFB-induced factor 2 protein (TGIF2) is involved in microRNA miR-541-3p-regulated cell proliferation, invasion, migration, as well as cell cycle of non-small lung cancer (NSCLC) cells. (PMID:27448300)
- Authors suggest that miR-148a inhibits OC cell proliferation and invasion partly through inhibition of TGFI2. Therefore, this study highlights the importance of the miR-148a/TGFI2 axis in the malignant progression of OC. (PMID:27712592)
- Tgifs regulate ciliogenesis and suggests that Evi5l mediates at least part of this effect. (PMID:27956704)
- our study identified three mRNAs (TBX21, TGIF2, and CYCS) that were significantly altered between high- and low-risk patients with breast cancer. The three-mRNA model was independent and predicted the prognosis of patients robustly. Furthermore, this model could predict survival probability precisely in patients with or without metastasis. (PMID:30632703)
- Overexpression of TGIF1 lowers levels of cholesterol, triglycerides, and apoB. Overexpression of TGIF2 has more limited effects on lipid metabolism. (PMID:30825648)
- miRNA-34a could induce osteoarthritis synovial cell apoptosis via regulation of TGIF2 in vitro (PMID:31113203)
- TGIF2 promotes cervical cancer metastasis by negatively regulating FCMR. (PMID:32572908)
- miR-541 serves as a prognostic biomarker of osteosarcoma and its regulatory effect on tumor cell proliferation, migration and invasion by targeting TGIF2. (PMID:32709240)
- Circ-RNF13, as an oncogene, regulates malignant progression of HBV-associated hepatocellular carcinoma cells and HBV infection through ceRNA pathway of circ-RNF13/miR-424-5p/TGIF2. (PMID:33714261)
- Circular RNA circMMP1 Contributes to the Progression of Glioma Through Regulating TGIF2 Expression by Sponging miR-195-5p. (PMID:34471941)
- Circular RNA circCPA4 promotes tumorigenesis by regulating miR-214-3p/TGIF2 in lung cancer. (PMID:34741437)
- Phosphorylation of TGIF2 represents a therapeutic target that drives EMT and metastasis of lung adenocarcinoma. (PMID:36647029)
Cross-species orthologs
11 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ENSDARG00000112895 | |
| mus_musculus | Tgif2 | ENSMUSG00000062175 |
| rattus_norvegicus | AABR07027925.2 | ENSRNOG00000030925 |
| rattus_norvegicus | Tgif2 | ENSRNOG00000042374 |
| 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), 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
Homeobox protein TGIF2 — Q9GZN2 (reviewed: Q9GZN2)
Alternative names: 5’-TG-3’-interacting factor 2, TGF-beta-induced transcription factor 2
All UniProt accessions (5): Q9GZN2, H0YKN5, U3KQ25, U3KQB5, U3KQS0
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional repressor, which probably repress transcription by binding directly the 5’-CTGTCAA-3’ DNA sequence or by interacting with TGF-beta activated SMAD proteins. Probably represses transcription via the recruitment of histone deacetylase proteins.
Subunit / interactions. Interacts with the transcriptional modulator SMAD3 and the histone deacetylase HDAC1.
Subcellular location. Nucleus.
Tissue specificity. Widely expressed. Highly expressed in heart, kidney and testis. Weakly expressed in brain and prostate.
Post-translational modifications. The C-terminal part is phosphorylated in response to EGF signaling by the Ras/MAPK pathway.
Miscellaneous. TGIF2 is amplified and overexpressed in several ovarian cancer cell lines.
Similarity. Belongs to the TALE/TGIF homeobox family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9GZN2-1 | 1 | yes |
| Q9GZN2-2 | 2 |
RefSeq proteins (4): NP_001186442, NP_001186443, NP_001186444, NP_068581* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001356 | HD | Domain |
| IPR008422 | KN_HD | Domain |
| IPR009057 | Homeodomain-like_sf | Homologous_superfamily |
| IPR050224 | TALE_homeobox | Family |
Pfam: PF05920
UniProt features (12 total): region of interest 4, mutagenesis site 2, modified residue 2, splice variant 2, chain 1, DNA-binding region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9GZN2-F1 | 69.83 | 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 (2): 182, 186
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 182 | decrease of phosphorylation. strong decrease of phosphorylation; when associated with v-186. |
| 186 | decrease of phosphorylation. strong decrease of phosphorylation; when associated with v-182. |
Function
Pathways and Gene Ontology
Reactome pathways
10 pathways
| ID | Pathway |
|---|---|
| R-HSA-2173795 | Downregulation of SMAD2/3:SMAD4 transcriptional activity |
| R-HSA-2173796 | SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription |
| R-HSA-9764725 | Negative Regulation of CDH1 Gene Transcription |
| R-HSA-162582 | Signal Transduction |
| R-HSA-170834 | Signaling by TGF-beta Receptor Complex |
| R-HSA-212436 | Generic Transcription Pathway |
| R-HSA-2173793 | Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer |
| R-HSA-73857 | RNA Polymerase II Transcription |
| R-HSA-74160 | Gene expression (Transcription) |
| R-HSA-9006936 | Signaling by TGFB family members |
MSigDB gene sets: 310 (showing top):
GGGACCA_MIR133A_MIR133B, RNGTGGGC_UNKNOWN, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, REACTOME_SIGNALING_BY_TGF_BETA_RECEPTOR_COMPLEX, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GCANCTGNY_MYOD_Q6, GOBP_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION, GOZGIT_ESR1_TARGETS_DN, GOBP_NEUROGENESIS, CREBP1_Q2, CAGCTG_AP4_Q5, BONCI_TARGETS_OF_MIR15A_AND_MIR16_1, REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS, CREB_Q4, BROWNE_HCMV_INFECTION_24HR_UP
GO Biological Process (8): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of DNA-templated transcription (GO:0006355), regulation of gastrulation (GO:0010470), amacrine cell differentiation (GO:0035881), nodal signaling pathway (GO:0038092), positive regulation of amacrine cell differentiation (GO:1902871), neuron differentiation (GO:0030182), retina development in camera-type eye (GO:0060041)
GO Molecular Function (5): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA-binding transcription factor activity (GO:0003700), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677)
GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), centrosome (GO:0005813)
Reactome top-level categories
Rollup of top-8 pathways:
| Category | Pathways |
|---|---|
| Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer | 2 |
| Regulation of CDH1 Gene Transcription | 1 |
| Signaling by TGFB family members | 1 |
| RNA Polymerase II Transcription | 1 |
| Signaling by TGF-beta Receptor Complex | 1 |
| Generic Transcription Pathway | 1 |
| Gene expression (Transcription) | 1 |
| Signal Transduction | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of transcription by RNA polymerase II | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| cellular anatomical structure | 2 |
| transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| gastrulation | 1 |
| regulation of anatomical structure morphogenesis | 1 |
| regulation of embryonic development | 1 |
| neural retina development | 1 |
| central nervous system neuron differentiation | 1 |
| activin receptor signaling pathway | 1 |
| amacrine cell differentiation | 1 |
| positive regulation of neuron differentiation | 1 |
| regulation of amacrine cell differentiation | 1 |
| cell differentiation | 1 |
| generation of neurons | 1 |
| camera-type eye development | 1 |
| anatomical structure development | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| negative regulation of transcription by RNA polymerase II | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription repressor activity | 1 |
| transcription cis-regulatory region binding | 1 |
| regulation of DNA-templated transcription | 1 |
| transcription regulator activity | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
Protein interactions and networks
STRING
806 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TGIF2 | TGFBI | Q15582 | 884 |
| TGIF2 | PABPC5 | Q96DU9 | 784 |
| TGIF2 | PCDH11X | Q9BZA7 | 587 |
| TGIF2 | RBP2 | P50120 | 585 |
| TGIF2 | PKM | P14618 | 579 |
| TGIF2 | CTBP1 | Q13363 | 551 |
| TGIF2 | HDAC1 | Q13547 | 460 |
| TGIF2 | HDAC3 | O15379 | 454 |
| TGIF2 | SMAD3 | P84022 | 438 |
| TGIF2 | FOXA2 | Q9Y261 | 405 |
| TGIF2 | CYP26A1 | O43174 | 393 |
| TGIF2 | SOX17 | Q9H6I2 | 390 |
| TGIF2 | CDYL2 | Q8N8U2 | 374 |
| TGIF2 | ZFYVE9 | O95405 | 373 |
| TGIF2 | SKIL | P12756 | 366 |
IntAct
6 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| H3-4 | TGIF2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TARBP2 | TGIF2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TGIF2 | SAP30 | psi-mi:“MI:0914”(association) | 0.350 |
| TGIF2 | ZNF213 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (36): TGIF2-C20orf24 (Affinity Capture-RNA), TGIF2 (Synthetic Lethality), TGIF2 (Affinity Capture-RNA), TGIF2-C20orf24 (Affinity Capture-RNA), TGIF2 (Negative Genetic), TGIF2 (Positive Genetic), TGIF2 (Positive Genetic), TGIF2 (Negative Genetic), TGIF2 (Biochemical Activity), TGIF2-C20orf24 (Positive Genetic), TGIF2 (Affinity Capture-Western), SMAD3 (Affinity Capture-Western), HIST3H3 (Proximity Label-MS), TGIF2 (Negative Genetic), TGIF2 (Negative Genetic)
ESM2 similar proteins: A0A1W2PPF3, A0A1W2PPM1, A1A546, A1YGI6, A2T763, A5YC49, A6NFQ7, A6NJG6, D2HQI1, G3X9P6, O42173, O57374, P09632, P0C7M4, P10242, P14837, P17278, P31272, P31538, Q1KKS8, Q28ET4, Q28G02, Q3LTE0, Q3UT54, Q4JM65, Q4KL20, Q5TM83, Q5TM84, Q5W1J6, Q68EH7, Q6NSW7, Q80Z64, Q8IUE1, Q8JH55, Q8JIT7, Q8JJ26, Q8MIB7, Q8MIB8, Q8MIE9, Q91685
Diamond homologs: A1YGI6, A6NDR6, A8K0S8, A8WL06, B7ZRT8, O00470, O04136, O14770, O22300, O42261, O46339, O65685, O70477, P41779, P41817, P46606, P48000, P48001, P48002, P48731, P53147, P54269, P55347, P56659, P56660, P56664, P56665, P56669, P70284, P78412, P78413, P78414, P78415, P79937, P81067, P81068, P97367, P97368, Q0E3C3, Q0J6N4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
23 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 23 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1231 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:36574631:GACAC:G | donor_gain | 1.0000 |
| 20:36574636:G:GG | donor_gain | 1.0000 |
| 20:36578963:GCAA:G | donor_gain | 1.0000 |
| 20:36578966:AG:A | donor_loss | 1.0000 |
| 20:36578967:G:GG | donor_gain | 1.0000 |
| 20:36578967:GT:G | donor_loss | 1.0000 |
| 20:36578968:T:G | donor_loss | 1.0000 |
| 20:36573746:G:GG | donor_gain | 0.9900 |
| 20:36573756:G:GT | donor_gain | 0.9900 |
| 20:36574633:CACGT:C | donor_loss | 0.9900 |
| 20:36574636:G:C | donor_loss | 0.9900 |
| 20:36574637:T:A | donor_loss | 0.9900 |
| 20:36574638:GAG:G | donor_loss | 0.9900 |
| 20:36578736:CCCAG:C | acceptor_gain | 0.9900 |
| 20:36578737:CCA:C | acceptor_loss | 0.9900 |
| 20:36578737:CCAGG:C | acceptor_gain | 0.9900 |
| 20:36578738:CAGG:C | acceptor_loss | 0.9900 |
| 20:36578738:CAGGT:C | acceptor_gain | 0.9900 |
| 20:36578739:A:AG | acceptor_gain | 0.9900 |
| 20:36578740:G:GG | acceptor_gain | 0.9900 |
| 20:36578928:C:G | donor_gain | 0.9900 |
| 20:36578962:TGCAA:T | donor_gain | 0.9900 |
| 20:36578963:GCAAG:G | donor_gain | 0.9900 |
| 20:36578964:C:T | donor_gain | 0.9900 |
| 20:36578964:CAA:C | donor_gain | 0.9900 |
| 20:36578965:AA:A | donor_gain | 0.9900 |
| 20:36578972:G:GT | donor_gain | 0.9900 |
| 20:36590909:GATAT:G | acceptor_gain | 0.9900 |
| 20:36574632:ACAC:A | donor_gain | 0.9800 |
| 20:36574633:CAC:C | donor_gain | 0.9800 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000256939 (20:36586386 C>G), RS1000416318 (20:36580339 G>A), RS1000556837 (20:36586513 G>A,T), RS1000809647 (20:36592564 A>C), RS1000817519 (20:36575085 G>A,C), RS1000828862 (20:36574801 G>T), RS1001237808 (20:36579463 G>A), RS1001362459 (20:36573445 G>C), RS1001370628 (20:36573272 G>A,T), RS1001632893 (20:36579374 T>C), RS1001643983 (20:36592218 C>T), RS1001719653 (20:36585860 G>A), RS1001752114 (20:36585629 C>T), RS1001845138 (20:36585524 C>G,T), RS1001888824 (20:36592643 T>C)
Disease associations
OMIM: gene MIM:607294 | 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
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, decreases expression | 5 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 2 |
| perfluorooctane sulfonic acid | decreases expression | 2 |
| (+)-JQ1 compound | decreases expression | 2 |
| Resveratrol | affects cotreatment, increases expression, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Cadmium Chloride | decreases expression | 2 |
| dicrotophos | increases expression | 1 |
| uranyl acetate | affects expression | 1 |
| quercitrin | decreases expression | 1 |
| trichostatin A | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| arsenite | increases methylation | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Glyphosate | increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Copper | affects binding, decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A7J9 | SEES3-1V human TGIF2, clone1 | Embryonic stem cell | Male |
| CVCL_A7K0 | SEES3-1V human TGIF2, clone2 | Embryonic stem cell | Male |
| CVCL_A7K1 | SEES3-1V human TGIF2, clone3 | Embryonic stem cell | Male |
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.