GTF3C2
gene geneOn this page
Also known as KIAA0011TFIIIC110
Summary
GTF3C2 (general transcription factor IIIC subunit 2, HGNC:4665) is a protein-coding gene on chromosome 2p23.3, encoding General transcription factor 3C polypeptide 2 (Q8WUA4). Required for RNA polymerase III-mediated transcription. It is a selective cancer dependency (DepMap: 63.7% of cell lines).
Enables RNA polymerase III general transcription initiation factor activity. Contributes to DNA binding activity. Involved in transcription by RNA polymerase III. Located in nucleoplasm. Part of transcription factor TFIIIC complex.
Source: NCBI Gene 2976 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 118 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 63.7% of screened cell lines
- MANE Select transcript:
NM_001035521
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4665 |
| Approved symbol | GTF3C2 |
| Name | general transcription factor IIIC subunit 2 |
| Location | 2p23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0011, TFIIIC110 |
| Ensembl gene | ENSG00000115207 |
| Ensembl biotype | protein_coding |
| OMIM | 604883 |
| Entrez | 2976 |
Gene structure
Transcript identifiers
Ensembl transcripts: 38 — 32 protein_coding, 5 retained_intron, 1 nonsense_mediated_decay
ENST00000264720, ENST00000359541, ENST00000415683, ENST00000423998, ENST00000431028, ENST00000454704, ENST00000457098, ENST00000457748, ENST00000470115, ENST00000480989, ENST00000484680, ENST00000493511, ENST00000495298, ENST00000872596, ENST00000872597, ENST00000872598, ENST00000872599, ENST00000872600, ENST00000872601, ENST00000872602, ENST00000872603, ENST00000872604, ENST00000872605, ENST00000872606, ENST00000912118, ENST00000912119, ENST00000912120, ENST00000912121, ENST00000912122, ENST00000912123, ENST00000912124, ENST00000912125, ENST00000912126, ENST00000912127, ENST00000912128, ENST00000957128, ENST00000957129, ENST00000957130
RefSeq mRNA: 17 — MANE Select: NM_001035521
NM_001035521, NM_001318909, NM_001388380, NM_001394503, NM_001394504, NM_001394505, NM_001394506, NM_001394507, NM_001394508, NM_001394509, NM_001394510, NM_001394511, NM_001394512, NM_001394514, NM_001394515, NM_001394516, NM_001521
CCDS: CCDS1749
Canonical transcript exons
ENST00000264720 — 19 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000733153 | 27328037 | 27328189 |
| ENSE00000733155 | 27328468 | 27328596 |
| ENSE00000733158 | 27329121 | 27329282 |
| ENSE00000733159 | 27329379 | 27329523 |
| ENSE00000733164 | 27333974 | 27333999 |
| ENSE00000809119 | 27335598 | 27335706 |
| ENSE00001078309 | 27333655 | 27333784 |
| ENSE00001167114 | 27335917 | 27336028 |
| ENSE00001167121 | 27336198 | 27336425 |
| ENSE00001167142 | 27337926 | 27338020 |
| ENSE00001167149 | 27341948 | 27342233 |
| ENSE00001167157 | 27342826 | 27343147 |
| ENSE00001417649 | 27343308 | 27343578 |
| ENSE00001418726 | 27356739 | 27356764 |
| ENSE00003492881 | 27328844 | 27328931 |
| ENSE00003529659 | 27337244 | 27337342 |
| ENSE00003533095 | 27327177 | 27327284 |
| ENSE00003637789 | 27337481 | 27337558 |
| ENSE00003963840 | 27325854 | 27326893 |
Expression profiles
Bgee: expression breadth ubiquitous, 184 present calls, max score 96.15.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.7287 / max 163.3255, expressed in 1810 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 27484 | 12.8417 | 1793 |
| 27486 | 5.8833 | 1753 |
| 27485 | 1.5651 | 1058 |
| 27483 | 0.4274 | 218 |
| 27482 | 0.0112 | 3 |
Top tissues by expression
279 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 96.15 | gold quality |
| skin of leg | UBERON:0001511 | 95.37 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 95.06 | gold quality |
| right uterine tube | UBERON:0001302 | 94.99 | gold quality |
| skin of abdomen | UBERON:0001416 | 94.94 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 94.73 | gold quality |
| minor salivary gland | UBERON:0001830 | 94.13 | gold quality |
| body of pancreas | UBERON:0001150 | 94.04 | gold quality |
| mucosa of stomach | UBERON:0001199 | 93.86 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 93.72 | gold quality |
| granulocyte | CL:0000094 | 93.47 | gold quality |
| metanephros cortex | UBERON:0010533 | 93.34 | gold quality |
| nerve | UBERON:0001021 | 93.26 | gold quality |
| tibial nerve | UBERON:0001323 | 93.26 | gold quality |
| rectum | UBERON:0001052 | 93.22 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 93.22 | gold quality |
| right ovary | UBERON:0002118 | 93.19 | gold quality |
| ectocervix | UBERON:0012249 | 93.15 | gold quality |
| adenohypophysis | UBERON:0002196 | 93.03 | gold quality |
| right testis | UBERON:0004534 | 92.94 | gold quality |
| left testis | UBERON:0004533 | 92.91 | gold quality |
| left ovary | UBERON:0002119 | 92.84 | gold quality |
| body of stomach | UBERON:0001161 | 92.74 | gold quality |
| esophagus mucosa | UBERON:0002469 | 92.72 | gold quality |
| transverse colon | UBERON:0001157 | 92.66 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 92.59 | gold quality |
| body of uterus | UBERON:0009853 | 92.57 | gold quality |
| right adrenal gland | UBERON:0001233 | 92.52 | gold quality |
| thyroid gland | UBERON:0002046 | 92.50 | gold quality |
| right lung | UBERON:0002167 | 92.46 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.22 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NFIC
miRNA regulators (miRDB)
81 targeting GTF3C2, 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-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-520G-5P | 99.99 | 66.76 | 658 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-605-3P | 99.88 | 69.22 | 1833 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-6817-3P | 99.79 | 68.35 | 2126 |
| HSA-MIR-449C-5P | 99.78 | 67.63 | 1168 |
| HSA-MIR-34B-5P | 99.78 | 67.56 | 1175 |
| HSA-MIR-26A-5P | 99.78 | 73.52 | 2303 |
| HSA-MIR-26B-5P | 99.78 | 73.51 | 2305 |
| HSA-MIR-4658 | 99.77 | 64.94 | 514 |
| HSA-MIR-6790-5P | 99.77 | 65.24 | 505 |
| HSA-MIR-4517 | 99.76 | 69.19 | 1867 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 63.7% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 2)
- Evidence against the model that pol III transcription can be effectively modulated through the specific induction of TFIIIC110. (PMID:16822860)
- The transcription factor Sp1 modulates RNA polymerase III gene transcription by controlling BRF1 and GTF3C2 expression in human cells. (PMID:32115405)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gtf3c2 | ENSDARG00000004574 |
| mus_musculus | Gtf3c2 | ENSMUSG00000106864 |
| rattus_norvegicus | Gtf3c2 | ENSRNOG00000056904 |
Protein
Protein identifiers
General transcription factor 3C polypeptide 2 — Q8WUA4 (reviewed: Q8WUA4)
Alternative names: TF3C-beta, Transcription factor IIIC 110 kDa subunit, Transcription factor IIIC subunit beta
All UniProt accessions (7): Q8WUA4, C9JNH7, C9JQ12, H0Y4Q6, H7C1A9, H7C318, H7C3X9
UniProt curated annotations — full annotation on UniProt →
Function. Required for RNA polymerase III-mediated transcription. Component of TFIIIC that initiates transcription complex assembly on tRNA and is required for transcription of 5S rRNA and other stable nuclear and cytoplasmic RNAs. May play a direct role in stabilizing interactions of TFIIIC2 with TFIIIC1.
Subunit / interactions. Part of the TFIIIC subcomplex TFIIIC2, consisting of six subunits, GTF3C1, GTF3C2, GTF3C3, GTF3C4, GTF3C5 and GTF3C6.
Subcellular location. Nucleus.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8WUA4-1 | 1 | yes |
| Q8WUA4-2 | 2 |
RefSeq proteins (17): NP_001030598, NP_001305838, NP_001375309, NP_001381432, NP_001381433, NP_001381434, NP_001381435, NP_001381436, NP_001381437, NP_001381438, NP_001381439, NP_001381440, NP_001381441, NP_001381443, NP_001381444, NP_001381445, NP_001512 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR019775 | WD40_repeat_CS | Conserved_site |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR052416 | GTF3C_component | Family |
Pfam: PF00400
UniProt features (91 total): strand 38, modified residue 12, helix 11, turn 10, repeat 6, compositionally biased region 6, region of interest 4, splice variant 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8CLI | ELECTRON MICROSCOPY | 3.2 |
| 8CLJ | ELECTRON MICROSCOPY | 3.2 |
| 8CLL | ELECTRON MICROSCOPY | 3.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8WUA4-F1 | 73.32 | 0.53 |
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 (12): 63, 132, 165, 167, 220, 260, 597, 871, 892, 893, 895, 901
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-749476 | RNA Polymerase III Abortive And Retractive Initiation |
| R-HSA-76061 | RNA Polymerase III Transcription Initiation From Type 1 Promoter |
| R-HSA-76066 | RNA Polymerase III Transcription Initiation From Type 2 Promoter |
| R-HSA-74158 | RNA Polymerase III Transcription |
| R-HSA-74160 | Gene expression (Transcription) |
| R-HSA-76046 | RNA Polymerase III Transcription Initiation |
MSigDB gene sets: 173 (showing top):
MYAATNNNNNNNGGC_UNKNOWN, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, PAX4_01, GOBP_TRNA_METABOLIC_PROCESS, GOBP_TRANSCRIPTION_BY_RNA_POLYMERASE_III, GOBP_RRNA_TRANSCRIPTION, TTGGGAG_MIR150, CTCTAGA_MIR526C_MIR518F_MIR526A, YY1_02, BLALOCK_ALZHEIMERS_DISEASE_UP, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_DN, HNF4_DR1_Q3, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, BENPORATH_ES_CORE_NINE_CORRELATED, MYB_Q3
GO Biological Process (3): transcription by RNA polymerase III (GO:0006383), 5S class rRNA transcription by RNA polymerase III (GO:0042791), tRNA transcription by RNA polymerase III (GO:0042797)
GO Molecular Function (3): RNA polymerase III general transcription initiation factor activity (GO:0000995), DNA binding (GO:0003677), protein binding (GO:0005515)
GO Cellular Component (3): transcription factor TFIIIC complex (GO:0000127), nucleoplasm (GO:0005654), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| RNA Polymerase III Transcription | 2 |
| RNA Polymerase III Transcription Initiation | 2 |
| Gene expression (Transcription) | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transcription by RNA polymerase III | 3 |
| DNA-templated transcription | 1 |
| rRNA transcription | 1 |
| tRNA transcription | 1 |
| general transcription initiation factor activity | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| RNA polymerase III transcription regulator complex | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1558 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GTF3C2 | GTF3C1 | Q12789 | 969 |
| GTF3C2 | GTF3C4 | Q9UKN8 | 822 |
| GTF3C2 | GTF3C3 | Q9Y5Q9 | 819 |
| GTF3C2 | GTF3C5 | Q9Y5Q8 | 779 |
| GTF3C2 | POLR3A | O14802 | 689 |
| GTF3C2 | BDP1 | A6H8Y1 | 648 |
| GTF3C2 | POLR3G | O15318 | 627 |
| GTF3C2 | SNRNP200 | O75643 | 484 |
| GTF3C2 | CCDC121 | Q6ZUS5 | 477 |
| GTF3C2 | KRTCAP3 | Q53RY4 | 474 |
| GTF3C2 | FNDC4 | Q9H6D8 | 469 |
| GTF3C2 | DIDO1 | Q9BTC0 | 450 |
| GTF3C2 | GTF3C6 | Q969F1 | 448 |
| GTF3C2 | NRBP1 | Q9UHY1 | 446 |
| GTF3C2 | GRHL2 | Q6ISB3 | 426 |
IntAct
130 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FBL | NOP56 | psi-mi:“MI:0914”(association) | 0.800 |
| GTF3C2 | GTF3C1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| GTF3C1 | GTF3C2 | psi-mi:“MI:0914”(association) | 0.670 |
| NEUROG3 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.640 |
| SDC2 | PDPK1 | psi-mi:“MI:0914”(association) | 0.640 |
| GTF3C3 | POLR3D | psi-mi:“MI:0914”(association) | 0.640 |
| PLK1 | C1orf226 | psi-mi:“MI:0914”(association) | 0.560 |
| ZNF764 | IPO8 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF764 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.530 |
| FBL | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| NHLH2 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| CASQ2 | PES1 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| CLEC3A | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| PRR20E | SIAH2 | psi-mi:“MI:0914”(association) | 0.530 |
| GTF3C2 | C1QBP | psi-mi:“MI:0914”(association) | 0.530 |
| GTF3C2 | RPTOR | psi-mi:“MI:0915”(physical association) | 0.500 |
| GTF3C2 | MTOR | psi-mi:“MI:0914”(association) | 0.500 |
| GTF3C2 | MTOR | psi-mi:“MI:0915”(physical association) | 0.500 |
| ESR2 | FBLL1 | psi-mi:“MI:0914”(association) | 0.460 |
| H3C1 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.410 |
| GTF3C5 | GTF3C2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Gtf3c6 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (252): GTF3C2 (Affinity Capture-MS), GTF3C2 (Affinity Capture-MS), GTF3C2 (Affinity Capture-MS), GTF3C2 (Affinity Capture-MS), GTF3C2 (Affinity Capture-MS), GTF3C2 (Affinity Capture-MS), GTF3C2 (Reconstituted Complex), GTF3C2 (Affinity Capture-Western), GTF3C2 (Proximity Label-MS), GTF3C2 (Affinity Capture-MS), GTF3C2 (Affinity Capture-MS), GTF3C2 (Affinity Capture-MS), GTF3C2 (Affinity Capture-MS), GTF3C2 (Affinity Capture-MS), GTF3C2 (Affinity Capture-MS)
ESM2 similar proteins: A0A087WRI3, A2AIP0, A2RRW4, A4D2P6, A6QPC0, A8E5W8, A8MTA8, A9JS51, E9PGG2, G3X6E2, H3BNL1, O08856, O43247, O43566, O70373, P54098, P54099, Q0VB26, Q12770, Q2TA11, Q2TBR5, Q3ZBN4, Q400G9, Q4QR77, Q5MNU5, Q5RDC3, Q6J272, Q6ZQR2, Q70EL4, Q8BL74, Q8BUM9, Q8BX43, Q8C0R7, Q8C4S8, Q8N1D5, Q8N6G2, Q8WUA4, Q8WW14, Q969Z4, Q96MK2
Diamond homologs: Q3KPT3, Q4R571, Q53HC9, Q5M8I4, Q5PPK9, Q5RDC3, Q5RE10, Q8BL74, Q8K0G5, Q8WUA4
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| GTF3C2 | “form complex” | TFIIIC | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 171 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 |
|---|---|---|---|
| RNA Polymerase III Transcription Initiation From Type 2 Promoter | 5 | 19.6× | 3e-04 |
| RNA Polymerase III Transcription Initiation From Type 1 Promoter | 5 | 18.9× | 3e-04 |
| RNA Polymerase III Transcription Initiation | 5 | 15.6× | 5e-04 |
| RNA Polymerase III Abortive And Retractive Initiation | 6 | 15.5× | 2e-04 |
| RNA Polymerase III Transcription | 5 | 15.1× | 6e-04 |
| Signaling by FGFR1 in disease | 5 | 13.6× | 9e-04 |
| G1/S Transition | 5 | 10.8× | 3e-03 |
| Peptide chain elongation | 8 | 9.4× | 2e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of signal transduction by p53 class mediator | 5 | 13.3× | 6e-03 |
| cytoplasmic translation | 8 | 10.3× | 3e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
118 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 91 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2913 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:27327172:ACTAC:A | donor_loss | 1.0000 |
| 2:27327173:CTACC:C | donor_loss | 1.0000 |
| 2:27327174:TAC:T | donor_loss | 1.0000 |
| 2:27327175:ACC:A | donor_loss | 1.0000 |
| 2:27327176:C:G | donor_loss | 1.0000 |
| 2:27327280:GAACC:G | acceptor_gain | 1.0000 |
| 2:27327281:AACC:A | acceptor_gain | 1.0000 |
| 2:27327283:CC:C | acceptor_gain | 1.0000 |
| 2:27327284:CC:C | acceptor_gain | 1.0000 |
| 2:27327285:C:CA | acceptor_loss | 1.0000 |
| 2:27327285:C:CC | acceptor_gain | 1.0000 |
| 2:27327285:C:T | acceptor_gain | 1.0000 |
| 2:27328186:TAGG:T | acceptor_gain | 1.0000 |
| 2:27328188:GG:G | acceptor_gain | 1.0000 |
| 2:27328464:GTACA:G | donor_loss | 1.0000 |
| 2:27328465:TACAA:T | donor_loss | 1.0000 |
| 2:27328466:A:AC | donor_gain | 1.0000 |
| 2:27328466:A:T | donor_loss | 1.0000 |
| 2:27328467:C:CA | donor_loss | 1.0000 |
| 2:27328467:C:CC | donor_gain | 1.0000 |
| 2:27328467:CAAAT:C | donor_gain | 1.0000 |
| 2:27328471:T:C | donor_gain | 1.0000 |
| 2:27328593:GACT:G | acceptor_gain | 1.0000 |
| 2:27328595:CT:C | acceptor_gain | 1.0000 |
| 2:27328837:GGCTC:G | donor_loss | 1.0000 |
| 2:27328838:GCTC:G | donor_loss | 1.0000 |
| 2:27328839:CTCAC:C | donor_loss | 1.0000 |
| 2:27328840:TCAC:T | donor_loss | 1.0000 |
| 2:27328841:CA:C | donor_loss | 1.0000 |
| 2:27328842:A:AC | donor_gain | 1.0000 |
AlphaMissense
5854 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:27333703:A:G | W562R | 1.000 |
| 2:27333703:A:T | W562R | 1.000 |
| 2:27329173:A:G | W663R | 0.999 |
| 2:27329173:A:T | W663R | 0.999 |
| 2:27329239:A:G | W641R | 0.999 |
| 2:27329239:A:T | W641R | 0.999 |
| 2:27329253:C:G | R636P | 0.999 |
| 2:27329263:C:A | G633W | 0.999 |
| 2:27329395:A:G | W621R | 0.999 |
| 2:27329395:A:T | W621R | 0.999 |
| 2:27329509:A:G | W583R | 0.999 |
| 2:27329509:A:T | W583R | 0.999 |
| 2:27336349:A:G | W402R | 0.999 |
| 2:27336349:A:T | W402R | 0.999 |
| 2:27329154:C:T | G669D | 0.998 |
| 2:27329262:C:T | G633E | 0.998 |
| 2:27329523:C:A | G578V | 0.998 |
| 2:27333701:C:A | W562C | 0.998 |
| 2:27333701:C:G | W562C | 0.998 |
| 2:27326882:G:C | S843R | 0.997 |
| 2:27326882:G:T | S843R | 0.997 |
| 2:27326884:T:G | S843R | 0.997 |
| 2:27328917:C:T | G685E | 0.997 |
| 2:27329151:A:T | V670D | 0.997 |
| 2:27329155:C:G | G669R | 0.997 |
| 2:27329256:T:A | D635V | 0.997 |
| 2:27329263:C:G | G633R | 0.997 |
| 2:27329263:C:T | G633R | 0.997 |
| 2:27329523:C:T | G578D | 0.997 |
| 2:27333669:G:T | A573D | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000001619 (2:27353119 G>A), RS1000054444 (2:27357770 A>G), RS1000167052 (2:27334501 T>C), RS1000205247 (2:27354276 T>G), RS1000424488 (2:27340087 G>T), RS1000464318 (2:27356677 C>T), RS1000477931 (2:27352752 T>C), RS1000789338 (2:27329742 C>G,T), RS1000812831 (2:27327543 T>C,G), RS1000867515 (2:27345114 T>C), RS1000976333 (2:27351712 A>T), RS1001059047 (2:27356828 T>G), RS1001105197 (2:27358134 G>T), RS1001198274 (2:27332667 G>C), RS1001334706 (2:27330976 T>C)
Disease associations
OMIM: gene MIM:604883 | 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 |
|---|---|---|
| GCST005312_31 | Menopause (age at onset) | 2.000000e-15 |
| GCST009391_1137 | Metabolite levels | 2.000000e-06 |
| GCST009391_695 | Metabolite levels | 7.000000e-07 |
| GCST010736_1 | Urinary albumin-to-creatinine ratio | 1.000000e-07 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004704 | age at menopause |
| EFO:0010458 | alpha-hydroxybutyric acid measurement |
| EFO:0007745 | lactate measurement |
| EFO:0007778 | urinary albumin to creatinine ratio |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067205 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.86 | Kd | 13.89 | nM | CHEMBL5653589 |
| 7.86 | ED50 | 13.89 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148474: Binding affinity to human GTF3C2 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0139 | uM |
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, decreases expression, increases abundance | 3 |
| Acetaminophen | decreases expression | 2 |
| Lead | decreases expression, affects expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases abundance | 1 |
| trichostatin A | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases abundance | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| avobenzone | increases expression | 1 |
| K 7174 | decreases expression | 1 |
| motexafin gadolinium | increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| Bortezomib | decreases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Acrolein | affects cotreatment, decreases expression, increases abundance | 1 |
| Air Pollutants | increases abundance, affects cotreatment, decreases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Benzene | increases expression | 1 |
| Benzo(a)pyrene | increases mutagenesis | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Catechin | affects cotreatment, decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Ozone | affects cotreatment, decreases expression, increases abundance | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651516 | Binding | Binding affinity to human GTF3C2 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
3 cell lines: 3 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A2J3 | SEES3-1V human GTF3C2, clone1 | Embryonic stem cell | Male |
| CVCL_A2J4 | SEES3-1V human GTF3C2, clone2 | Embryonic stem cell | Male |
| CVCL_A2J5 | SEES3-1V human GTF3C2, 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.