TCF19
geneOn this page
Also known as SC1
Summary
TCF19 (transcription factor 19, HGNC:11629) is a protein-coding gene on chromosome 6p21.33, encoding Transcription factor 19 (Q9Y242). Potential transcription factor that may play a role in the regulation of genes involved in cell cycle G1/S transition.
This gene encodes a protein that contains a PHD-type zinc finger domain and likely functions as a transcription factor. The encoded protein plays a role proliferation and apoptosis of pancreatic beta cells. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 6941 — RefSeq curated summary.
At a glance
- GWAS associations: 47
- Clinical variants (ClinVar): 53 total
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_007109
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11629 |
| Approved symbol | TCF19 |
| Name | transcription factor 19 |
| Location | 6p21.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SC1 |
| Ensembl gene | ENSG00000137310 |
| Ensembl biotype | protein_coding |
| OMIM | 600912 |
| Entrez | 6941 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 14 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000376255, ENST00000376257, ENST00000496421, ENST00000542218, ENST00000706778, ENST00000706779, ENST00000706780, ENST00000706781, ENST00000706782, ENST00000706783, ENST00000706784, ENST00000706785, ENST00000706786, ENST00000706787, ENST00000706788, ENST00000866485, ENST00000971426, ENST00000971427
RefSeq mRNA: 3 — MANE Select: NM_007109
NM_001077511, NM_001318908, NM_007109
CCDS: CCDS43446
Canonical transcript exons
ENST00000376257 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001826145 | 31158589 | 31158722 |
| ENSE00002202203 | 31161447 | 31162005 |
| ENSE00003996944 | 31158897 | 31159707 |
| ENSE00003996951 | 31162477 | 31164215 |
Expression profiles
Bgee: expression breadth ubiquitous, 133 present calls, max score 86.66.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.1033 / max 155.1186, expressed in 1639 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 66867 | 15.1033 | 1639 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.66 | gold quality |
| ventricular zone | UBERON:0003053 | 85.95 | gold quality |
| lymph node | UBERON:0000029 | 83.85 | gold quality |
| ganglionic eminence | UBERON:0004023 | 82.99 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 82.79 | gold quality |
| bone marrow | UBERON:0002371 | 82.46 | gold quality |
| vermiform appendix | UBERON:0001154 | 81.70 | gold quality |
| stromal cell of endometrium | CL:0002255 | 81.32 | gold quality |
| esophagus mucosa | UBERON:0002469 | 80.91 | gold quality |
| bone marrow cell | CL:0002092 | 80.74 | gold quality |
| granulocyte | CL:0000094 | 79.07 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 78.75 | gold quality |
| rectum | UBERON:0001052 | 78.49 | gold quality |
| skin of leg | UBERON:0001511 | 77.77 | gold quality |
| zone of skin | UBERON:0000014 | 77.68 | gold quality |
| skin of abdomen | UBERON:0001416 | 77.54 | gold quality |
| spleen | UBERON:0002106 | 77.45 | gold quality |
| apex of heart | UBERON:0002098 | 77.33 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 76.99 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 76.89 | gold quality |
| ectocervix | UBERON:0012249 | 76.72 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 76.39 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 76.37 | gold quality |
| endometrium | UBERON:0001295 | 76.34 | gold quality |
| cerebellum | UBERON:0002037 | 76.34 | gold quality |
| cerebellar cortex | UBERON:0002129 | 76.33 | gold quality |
| vagina | UBERON:0000996 | 76.31 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 75.99 | gold quality |
| calcaneal tendon | UBERON:0003701 | 75.93 | gold quality |
| esophagus | UBERON:0001043 | 75.80 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.60 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| CCNE1 | Repression |
miRNA regulators (miRDB)
55 targeting TCF19, 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-10401-5P | 99.99 | 65.79 | 948 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-4755-5P | 99.71 | 70.34 | 2716 |
| HSA-MIR-5006-3P | 99.71 | 70.26 | 2728 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-5197-5P | 99.64 | 69.08 | 1494 |
| HSA-MIR-7150 | 99.62 | 66.80 | 1322 |
| HSA-MIR-4437 | 99.52 | 65.29 | 1266 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-4480 | 99.42 | 66.02 | 735 |
| HSA-MIR-3182 | 99.40 | 68.15 | 2454 |
| HSA-MIR-135A-5P | 99.36 | 71.85 | 1601 |
| HSA-MIR-135B-5P | 99.36 | 71.63 | 1613 |
| HSA-MIR-4284 | 99.36 | 65.25 | 1293 |
| HSA-MIR-3160-5P | 99.28 | 69.07 | 1938 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
| HSA-MIR-4763-3P | 99.10 | 67.83 | 2649 |
| HSA-MIR-7113-3P | 98.75 | 65.71 | 1120 |
| HSA-MIR-1301-3P | 98.64 | 68.27 | 1071 |
| HSA-MIR-5047 | 98.64 | 68.62 | 1035 |
| HSA-MIR-4680-3P | 98.64 | 68.60 | 2093 |
| HSA-MIR-9500 | 98.62 | 66.54 | 1845 |
| HSA-MIR-6811-3P | 98.62 | 66.54 | 944 |
Literature-anchored findings (GeneRIF, showing 12)
- A linkage disequilibrium analysis established TCF19, POU5F1, CCHCR1 and PSORS1C1 as potential causal genes for the type 1 diabetes. (PMID:21076979)
- Genome association studies identified TCF19 as a new risk-associated loci for chronic hepatitis B on the HLA region of chromosome 6. (PMID:23760081)
- Data shows increased apoptosis and susceptibility to endoplasmic reticulum (ER) stress after Tcf19 knockdown. (PMID:23860123)
- Knockdown of Tcf19 reduces proliferation and increases apoptosis. Tcf19 is found in pancreatic islets in mouse and human. (PMID:23860123)
- Data suggest TCF19 interacts with histone 3 lysine 4 trimethylation through its plant homeodomain finger; TCF19 expression appears to regulate gluconeogenesis in hepatocytes; TCF19 interacts with CHD4 causing NuRD complex recruitment to gene promoters of enzymes involved in gluconeogenesis. (TCF19 = transcription factor 19; CHD4 = chromodomain helicase DNA binding protein 4; NuRD = nucleosome-remodeling-deacetylase) (PMID:29042441)
- AKT/FOXO1 signaling is essential for TCF19 influence on hepatocellular carcinoma progression (PMID:30509085)
- TCF19 Promotes Cell Proliferation through Binding to the Histone H3K4me3 Mark. (PMID:31746185)
- TCF19 aggravates the malignant progression of colorectal cancer by negatively regulating WWC1. (PMID:32016966)
- Genetic variants associated with expression of TCF19 contribute to the risk of head and neck cancer in Chinese population. (PMID:34085947)
- TCF19 and p53 regulate transcription of TIGAR and SCO2 in HCC for mitochondrial energy metabolism and stress adaptation. (PMID:34369624)
- Exon and intron sharing in opposite direction-an undocumented phenomenon in human genome-between Pou5f1 and Tcf19 genes. (PMID:34610795)
- Multidimensional data analysis revealed thyroiditis-associated TCF19 SNP rs2073724 as a highly ranked protective variant in thyroid cancer. (PMID:38579171)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tcf19l | ENSDARG00000040036 |
| mus_musculus | Tcf19 | ENSMUSG00000050410 |
| rattus_norvegicus | Tcf19 | ENSRNOG00000058288 |
| caenorhabditis_elegans | WBGENE00007227 |
Protein
Protein identifiers
Transcription factor 19 — Q9Y242 (reviewed: Q9Y242)
Alternative names: Transcription factor SC1
All UniProt accessions (6): Q9Y242, A0A1U9X8M7, A0A9L9PXI0, A0A9L9PXV2, A0A9L9PXX5, H0YFN0
UniProt curated annotations — full annotation on UniProt →
Function. Potential transcription factor that may play a role in the regulation of genes involved in cell cycle G1/S transition. May bind to regulatory elements of genes, including the promoter of the transcription factor FOXO1.
Subcellular location. Nucleus.
RefSeq proteins (3): NP_001070979, NP_001305837, NP_009040* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000253 | FHA_dom | Domain |
| IPR001965 | Znf_PHD | Domain |
| IPR008984 | SMAD_FHA_dom_sf | Homologous_superfamily |
| IPR011011 | Znf_FYVE_PHD | Homologous_superfamily |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR019786 | Zinc_finger_PHD-type_CS | Conserved_site |
| IPR019787 | Znf_PHD-finger | Domain |
| IPR039095 | TCF19_PHD | Domain |
| IPR042803 | TCF19 | Family |
Pfam: PF00498, PF00628
UniProt features (20 total): binding site 8, sequence conflict 4, sequence variant 3, chain 1, domain 1, modified residue 1, zinc finger region 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y242-F1 | 63.17 | 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.
Ligand- & substrate-binding residues (8): 336; 339; 296; 298; 310; 313; 318; 321
Post-translational modifications (1): 78
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9940951 | Interaction of NuRD complexes with transcription factors |
MSigDB gene sets: 0 (showing top):
GO Biological Process (1): regulation of gene expression (GO:0010468)
GO Molecular Function (3): zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (1): nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| NuRD complex assembly | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| gene expression | 1 |
| regulation of macromolecule biosynthetic process | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1670 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TCF19 | CCHCR1 | Q8TD31 | 785 |
| TCF19 | HLA-C | P04222 | 757 |
| TCF19 | POU5F1 | P31359 | 706 |
| TCF19 | PRMT5 | O14744 | 693 |
| TCF19 | CDSN | Q15517 | 646 |
| TCF19 | PSORS1C1 | Q9UIG5 | 594 |
| TCF19 | C6orf15 | Q6UXA7 | 579 |
| TCF19 | EHMT2 | Q96KQ7 | 561 |
| TCF19 | RNF39 | Q9H2S5 | 560 |
| TCF19 | INTS10 | Q9NVR2 | 557 |
| TCF19 | GNL1 | P36915 | 508 |
| TCF19 | PSORS1C2 | Q9UIG4 | 507 |
| TCF19 | FGD2 | Q7Z6J4 | 489 |
| TCF19 | MUC22 | E2RYF6 | 476 |
| TCF19 | ABCF1 | Q8NE71 | 474 |
IntAct
57 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GOLGA2 | TCF19 | psi-mi:“MI:0915”(physical association) | 0.740 |
| TCF19 | E2F6 | psi-mi:“MI:0914”(association) | 0.620 |
| TCF19 | E2F6 | psi-mi:“MI:0915”(physical association) | 0.620 |
| TCF19 | ZGPAT | psi-mi:“MI:0915”(physical association) | 0.560 |
| TCF19 | DDIT4L | psi-mi:“MI:0915”(physical association) | 0.560 |
| BLZF1 | TCF19 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZGPAT | TCF19 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DDIT4L | TCF19 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HSF2BP | TCF19 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CEP76 | TCF19 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NOXA1 | TCF19 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PFDN5 | TCF19 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PRKAB2 | TCF19 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RHOH | TCF19 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIB3 | TCF19 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HOXA1 | TCF19 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PDLIM7 | TCF19 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NFKBID | TCF19 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF474 | TCF19 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DNAJA3 | TCF19 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TCF19 | LZTR1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TCF19 | UBE3A | psi-mi:“MI:0915”(physical association) | 0.370 |
| TCF19 | HSF2BP | psi-mi:“MI:0915”(physical association) | 0.000 |
| TCF19 | BLZF1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (47): TCF19 (Two-hybrid), DNAJA3 (Two-hybrid), TCF19 (Reconstituted Complex), TCF19 (Two-hybrid), E2F6 (Affinity Capture-MS), MBD3 (Affinity Capture-MS), MTA3 (Affinity Capture-MS), MTA2 (Affinity Capture-MS), LIN9 (Affinity Capture-MS), GATAD2B (Affinity Capture-MS), MTA1 (Affinity Capture-MS), HIST3H3 (Reconstituted Complex), HIST4H4 (Reconstituted Complex), HIST3H3 (Affinity Capture-Western), HIST4H4 (Affinity Capture-Western)
ESM2 similar proteins: A5D7F8, A5H447, A5WW08, A6NIX2, E1BKA3, O54967, O70142, O97581, P50481, Q04584, Q07912, Q0VA45, Q14202, Q15654, Q15942, Q17R13, Q1JQB5, Q3SX26, Q3T0C8, Q5JV73, Q5REN1, Q5RF77, Q5TM48, Q5U2X5, Q5U2Z2, Q62523, Q63767, Q6ZQM0, Q71FD7, Q7TQJ8, Q7TSG2, Q7YR48, Q810L3, Q86XL3, Q8BMC3, Q8CIN9, Q8K0W3, Q8R1G6, Q8WUP2, Q91XC0
Diamond homologs: A2Y0Q2, B8AMA8, B8B8I3, B8BJV8, E6ZGB4, F4JGB7, F4JL28, O75151, P0CF52, P0CH95, P26358, Q08D35, Q12830, Q23541, Q2R837, Q3UHR0, Q3UWM4, Q54DV0, Q5EA28, Q5RHD1, Q5TM48, Q6BER5, Q6P949, Q6ZMT4, Q75IR6, Q7YR48, Q80TJ7, Q84TV4, Q8H383, Q8LA16, Q8S8M9, Q92576, Q9CWW7, Q9FEN9, Q9P0U4, Q9P281, Q9TSV4, Q9UPP1, Q9UT79, Q9W0T1
SIGNOR signaling
0 interactions.
Disease & clinical
Cancer significance
Clinical variants and AI predictions
ClinVar
53 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 43 |
| Likely benign | 3 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1414 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:31159708:G:GA | donor_loss | 1.0000 |
| 6:31161419:T:G | acceptor_gain | 1.0000 |
| 6:31161420:ATTT:A | acceptor_gain | 1.0000 |
| 6:31164864:CCAC:C | acceptor_gain | 1.0000 |
| 6:31164865:CAC:C | acceptor_gain | 1.0000 |
| 6:31164865:CACC:C | acceptor_gain | 1.0000 |
| 6:31164867:CCT:C | acceptor_loss | 1.0000 |
| 6:31164868:C:CC | acceptor_gain | 1.0000 |
| 6:31164874:G:C | acceptor_gain | 1.0000 |
| 6:31165123:CTCA:C | donor_loss | 1.0000 |
| 6:31165124:TCACA:T | donor_loss | 1.0000 |
| 6:31165125:CACAT:C | donor_loss | 1.0000 |
| 6:31165126:A:AC | donor_gain | 1.0000 |
| 6:31165126:ACAT:A | donor_gain | 1.0000 |
| 6:31165126:ACATC:A | donor_gain | 1.0000 |
| 6:31165127:C:CG | donor_gain | 1.0000 |
| 6:31165127:CAT:C | donor_gain | 1.0000 |
| 6:31165127:CATC:C | donor_gain | 1.0000 |
| 6:31165127:CATCC:C | donor_gain | 1.0000 |
| 6:31165129:T:TA | donor_gain | 1.0000 |
| 6:31165282:CATAT:C | acceptor_gain | 1.0000 |
| 6:31165565:CCTTA:C | donor_loss | 1.0000 |
| 6:31165566:CTTAC:C | donor_loss | 1.0000 |
| 6:31165567:TTA:T | donor_loss | 1.0000 |
| 6:31165568:TA:T | donor_loss | 1.0000 |
| 6:31165569:A:T | donor_loss | 1.0000 |
| 6:31165569:ACCT:A | donor_gain | 1.0000 |
| 6:31165570:C:A | donor_loss | 1.0000 |
| 6:31165570:CCTC:C | donor_gain | 1.0000 |
| 6:31165572:T:TA | donor_gain | 1.0000 |
AlphaMissense
2221 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:31159530:T:C | F21L | 0.992 |
| 6:31159532:C:A | F21L | 0.992 |
| 6:31159532:C:G | F21L | 0.992 |
| 6:31161599:T:C | F131L | 0.991 |
| 6:31161601:T:A | F131L | 0.991 |
| 6:31161601:T:G | F131L | 0.991 |
| 6:31159531:T:C | F21S | 0.990 |
| 6:31161495:T:C | L96S | 0.990 |
| 6:31161569:T:C | F121L | 0.990 |
| 6:31161571:C:A | F121L | 0.990 |
| 6:31161571:C:G | F121L | 0.990 |
| 6:31159641:G:C | A58P | 0.989 |
| 6:31159642:C:A | A58D | 0.989 |
| 6:31161570:T:C | F121S | 0.989 |
| 6:31161732:T:C | I175T | 0.989 |
| 6:31159560:T:G | Y31D | 0.988 |
| 6:31159483:T:C | F5S | 0.985 |
| 6:31161456:T:A | V83D | 0.985 |
| 6:31161600:T:C | F131S | 0.985 |
| 6:31162628:T:C | F317L | 0.984 |
| 6:31162630:C:A | F317L | 0.984 |
| 6:31162630:C:G | F317L | 0.984 |
| 6:31159654:C:A | A62D | 0.983 |
| 6:31162607:T:C | C310R | 0.983 |
| 6:31159648:T:C | L60P | 0.982 |
| 6:31162600:G:C | W307C | 0.982 |
| 6:31162600:G:T | W307C | 0.982 |
| 6:31159567:T:C | L33S | 0.981 |
| 6:31161459:A:T | N84I | 0.981 |
| 6:31162607:T:A | C310S | 0.981 |
dbSNP variants (sampled 300 via entrez): RS1000226564 (6:31158753 G>C), RS1000507363 (6:31158499 C>G,T), RS1000615578 (6:31164140 A>G), RS1000654068 (6:31158477 T>A,C), RS1001481045 (6:31157529 G>A), RS1001787820 (6:31160126 A>G), RS1001853689 (6:31163746 T>A,C), RS1002114329 (6:31160484 G>A), RS1003382497 (6:31162421 C>G,T), RS1003981245 (6:31161987 C>T), RS1004012272 (6:31161584 G>T), RS1004406067 (6:31159314 T>C), RS1004713163 (6:31158199 A>G), RS1004742618 (6:31157998 C>G), RS1005007835 (6:31159761 A>C)
Disease associations
OMIM: gene MIM:600912 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): sensorineural hearing loss disorder (MONDO:0020678)
Orphanet (0):
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000407 | Sensorineural hearing impairment |
GWAS associations
47 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000984_6 | Idiopathic membranous nephropathy | 3.000000e-58 |
| GCST001239_1 | Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) | 2.000000e-08 |
| GCST002068_6 | Chronic hepatitis B infection | 1.000000e-18 |
| GCST002140_3 | Multiple myeloma | 1.000000e-10 |
| GCST002352_17 | Type 2 diabetes | 4.000000e-09 |
| GCST002742_2 | Marginal zone lymphoma | 2.000000e-09 |
| GCST002879_12 | Chronic hepatitis B infection | 3.000000e-07 |
| GCST003542_141 | Night sleep phenotypes | 5.000000e-06 |
| GCST004131_25 | Inflammatory bowel disease | 2.000000e-31 |
| GCST004133_79 | Ulcerative colitis | 5.000000e-65 |
| GCST004521_103 | Autism spectrum disorder or schizophrenia | 2.000000e-08 |
| GCST004521_107 | Autism spectrum disorder or schizophrenia | 2.000000e-08 |
| GCST004521_114 | Autism spectrum disorder or schizophrenia | 3.000000e-17 |
| GCST004521_117 | Autism spectrum disorder or schizophrenia | 3.000000e-15 |
| GCST004521_124 | Autism spectrum disorder or schizophrenia | 3.000000e-12 |
| GCST004521_126 | Autism spectrum disorder or schizophrenia | 2.000000e-10 |
| GCST004521_132 | Autism spectrum disorder or schizophrenia | 2.000000e-09 |
| GCST004521_16 | Autism spectrum disorder or schizophrenia | 2.000000e-12 |
| GCST004521_167 | Autism spectrum disorder or schizophrenia | 4.000000e-16 |
| GCST004521_19 | Autism spectrum disorder or schizophrenia | 2.000000e-12 |
| GCST004521_209 | Autism spectrum disorder or schizophrenia | 5.000000e-16 |
| GCST004521_210 | Autism spectrum disorder or schizophrenia | 5.000000e-15 |
| GCST004521_211 | Autism spectrum disorder or schizophrenia | 5.000000e-15 |
| GCST004521_213 | Autism spectrum disorder or schizophrenia | 5.000000e-13 |
| GCST004521_229 | Autism spectrum disorder or schizophrenia | 4.000000e-11 |
| GCST004521_257 | Autism spectrum disorder or schizophrenia | 6.000000e-10 |
| GCST004521_265 | Autism spectrum disorder or schizophrenia | 7.000000e-14 |
| GCST004521_27 | Autism spectrum disorder or schizophrenia | 1.000000e-09 |
| GCST004521_282 | Autism spectrum disorder or schizophrenia | 5.000000e-09 |
| GCST004521_295 | Autism spectrum disorder or schizophrenia | 6.000000e-18 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008002 | physical activity measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs2073724 | Toxicity | 3 | nevirapine | HIV infectious disease |
PharmGKB variants
2 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs2073724 | TCF19 | 3 | 3.25 | 1 | nevirapine |
| rs3130931 | POU5F1, TCF19 | 3 | 0.00 | 1 | allopurinol |
CTD chemical–gene interactions
78 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 7 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 4 |
| Cyclosporine | decreases expression | 3 |
| bisphenol A | affects expression, decreases expression | 2 |
| cobaltous chloride | decreases expression, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| Estradiol | increases expression | 2 |
| Aflatoxin B1 | affects expression, increases expression | 2 |
| Cadmium Chloride | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| lasiocarpine | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| sulforaphane | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| zinc chromate | increases abundance, decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | increases expression, affects cotreatment | 1 |
| beta-glycerophosphoric acid | affects cotreatment, decreases expression | 1 |
| methacrylaldehyde | increases oxidation, increases abundance, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | increases abundance, decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | decreases expression, increases response to substance | 1 |
| jinfukang | increases expression | 1 |
Cellosaurus cell lines
5 cell lines: 3 embryonic stem cell, 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A7C2 | SEES3-1V human TCF19, clone1 | Embryonic stem cell | Male |
| CVCL_A7C3 | SEES3-1V human TCF19, clone2 | Embryonic stem cell | Male |
| CVCL_A7C4 | SEES3-1V human TCF19, clone3 | Embryonic stem cell | Male |
| CVCL_TR80 | HAP1 TCF19 (-) 1 | Cancer cell line | Male |
| CVCL_XU10 | HAP1 TCF19 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
89 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01655212 | PHASE3 | TERMINATED | Congenital Cytomegalovirus: Efficacy of Antiviral Treatment in a Randomized Controlled Trial |
| NCT02005822 | PHASE3 | COMPLETED | Congenital Cytomegalovirus: Efficacy of Antiviral Treatment |
| NCT03374514 | PHASE3 | UNKNOWN | Cochlear Electrical Impedance and the Effect of Topical Dexamethasone on Cochlear Implant Surgery |
| NCT02497690 | PHASE2 | COMPLETED | Effectiveness of Therapy Via Telemedicine Following Cochlear Implants |
| NCT03107871 | PHASE2 | ACTIVE_NOT_RECRUITING | Randomized Controlled Trial of Valganciclovir for Cytomegalovirus Infected Hearing Impaired Infants |
| NCT04120116 | PHASE2 | COMPLETED | FX-322 in Adults With Stable Sensorineural Hearing Loss |
| NCT05061758 | PHASE2 | WITHDRAWN | A Trial of LY3056480 in Patients With SNLH |
| NCT07364747 | PHASE2 | RECRUITING | Protective Effect of Acetylcysteine Against Cisplatinum-Induced Ototoxicity: A Randomized Controlled Trial |
| NCT02259595 | PHASE1 | COMPLETED | Study to Determine the Safety, Tolerability, and Pharmacokinetic Profile of HPN-07 and HPN-07 Plus NAC |
| NCT02693704 | PHASE2/PHASE3 | COMPLETED | Evaluation of a Binaural Spatialization Method for Hearing Aids |
| NCT02882477 | PHASE2/PHASE3 | UNKNOWN | Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based Therapy |
| NCT01267994 | PHASE1/PHASE2 | COMPLETED | A Clinical Trial of Anakinra for Steroid-Resistant Autoimmune Inner Ear Disease |
| NCT01902914 | PHASE1/PHASE2 | UNKNOWN | Effectiveness of P02 Digital Hearing Aids |
| NCT02038972 | PHASE1/PHASE2 | COMPLETED | Safety of Autologous Stem Cell Infusion for Children With Acquired Hearing Loss |
| NCT02616172 | PHASE1/PHASE2 | SUSPENDED | Autologous Bone Marrow Harvest and Transplant for Sensorineural Hearing Loss |
| NCT03616223 | PHASE1/PHASE2 | COMPLETED | FX-322 in Sensorineural Hearing Loss |
| NCT04129775 | PHASE1/PHASE2 | COMPLETED | OTO-413 in Subjects With Speech-in-Noise Hearing Impairment |
| NCT04462198 | PHASE1/PHASE2 | COMPLETED | Phase I/IIa Study Evaluating Safety and Efficacy of an Intratympanic Dose of PIPE-505 in Subjects With Hearing Loss |
| NCT07032038 | PHASE1/PHASE2 | NOT_YET_RECRUITING | First In Human Randomised Trial of Rincell-1 in Adults With a Cochlear Implant |
| NCT06025097 | EARLY_PHASE1 | COMPLETED | Intra-Tympanic Steroid With PRP Combination in Sensorineural Hearing Loss and Tinnitus. |
| NCT06707389 | EARLY_PHASE1 | NOT_YET_RECRUITING | Autologous Blood Monocyte Vesicles for the Treatment of Sudden Deafness |
| NCT07472023 | EARLY_PHASE1 | ENROLLING_BY_INVITATION | Regenerative Medicine and Stem Cell-Based Interventions for Inner Ear Trauma, Tinnitus, and Sensorineural Hearing Loss |
| NCT00023036 | Not specified | COMPLETED | Clinical and Genetic Analysis of Enlarged Vestibular Aqueducts |
| NCT00023049 | Not specified | COMPLETED | Genetic Analysis of Hereditary Disorders of Hearing and Balance |
| NCT00261768 | Not specified | COMPLETED | Efficacy of Digital Noise Reduction Strategies: A Hearing Aid Trial |
| NCT00589511 | Not specified | COMPLETED | Nucleus Freedom Cochlear Implant System Pediatric Post-approval Study |
| NCT00678899 | Not specified | COMPLETED | Evaluation of the Nucleus Hybrid™ L24 Cochlear Implant System |
| NCT00787189 | Not specified | COMPLETED | Study of Low Level Laser Therapy and Word Recognition in Hearing Impaired Individuals |
| NCT01184248 | Not specified | COMPLETED | The Effect of Sound Stimulation on Pure-tone Hearing Threshold |
| NCT01434446 | Not specified | COMPLETED | The Effect of Sound Stimulation on Hearing Ability |
| NCT01749592 | Not specified | COMPLETED | Single-sided Deafness and Cochlear Implants |
| NCT01781039 | Not specified | COMPLETED | Investigation of Anatomical Correlates of Speech Discrimination |
| NCT02082431 | Not specified | COMPLETED | Determine the Incidence of Long QT Amongst a Large Cohort of Subjects Diagnosed With Unilateral or Bilateral Sensorineural Hearing Loss. |
| NCT02093806 | Not specified | UNKNOWN | Clinical Applications of Round Window Imaging Anatomy in Cochlear Implant Surgery |
| NCT02252601 | Not specified | UNKNOWN | Evaluation of the High Frequency Digit Triplet Test in Cystic Fibrosis |
| NCT02584361 | Not specified | UNKNOWN | Cochlear Implant and Vestibular Function. |
| NCT02638883 | Not specified | COMPLETED | Implantation of the Cochlear™ Nucleus® Hybrid S Round Window (S-RW) in Adults |
| NCT02689349 | Not specified | COMPLETED | Esteem New Subject Enrollment Post Approval Study |
| NCT02698787 | Not specified | COMPLETED | Fundamental Asynchronous Stimulus Timing Sound Coding Study |
| NCT02798783 | Not specified | COMPLETED | Enlarged Vestibular Aqueduct Registry |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): childhood onset asthma, chronic hepatitis B virus infection, chronic obstructive pulmonary disease, hepatitis B virus infection, inflammatory bowel disease, major depressive disorder, marginal zone lymphoma, membranous glomerulonephritis, plasma cell myeloma, sensorineural hearing loss disorder, Stevens-Johnson syndrome, toxic epidermal necrolysis, type 2 diabetes mellitus, ulcerative colitis