TLE2
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Also known as ESG2GRG2ESGFLJ41188
Summary
TLE2 (TLE family member 2, transcriptional corepressor, HGNC:11838) is a protein-coding gene on chromosome 19p13.3, encoding Transducin-like enhancer protein 2 (Q04725). Transcriptional corepressor that binds to a number of transcription factors.
Enables transcription corepressor activity. Involved in negative regulation of DNA-templated transcription and negative regulation of canonical Wnt signaling pathway. Located in focal adhesion and nuclear body.
Source: NCBI Gene 7089 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 155 total
- Phenotypes (HPO): 2
- MANE Select transcript:
NM_003260
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11838 |
| Approved symbol | TLE2 |
| Name | TLE family member 2, transcriptional corepressor |
| Location | 19p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ESG2, GRG2, ESG, FLJ41188 |
| Ensembl gene | ENSG00000065717 |
| Ensembl biotype | protein_coding |
| OMIM | 601041 |
| Entrez | 7089 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 15 protein_coding, 6 retained_intron, 5 protein_coding_CDS_not_defined
ENST00000262953, ENST00000426948, ENST00000443826, ENST00000586422, ENST00000586492, ENST00000587137, ENST00000587217, ENST00000587672, ENST00000587770, ENST00000587893, ENST00000589205, ENST00000589291, ENST00000589364, ENST00000590101, ENST00000590183, ENST00000590536, ENST00000591457, ENST00000591529, ENST00000591720, ENST00000592305, ENST00000592584, ENST00000881232, ENST00000958737, ENST00000958738, ENST00000958739, ENST00000958740
RefSeq mRNA: 4 — MANE Select: NM_003260
NM_001144761, NM_001144762, NM_001300846, NM_003260
CCDS: CCDS45911, CCDS45912, CCDS45913, CCDS74255
Canonical transcript exons
ENST00000262953 — 20 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000663892 | 3008869 | 3008945 |
| ENSE00000663897 | 3000647 | 3000723 |
| ENSE00000859585 | 3002353 | 3002503 |
| ENSE00001149506 | 3006420 | 3006669 |
| ENSE00001149523 | 3009542 | 3009702 |
| ENSE00001724845 | 3005721 | 3005968 |
| ENSE00001792487 | 3005437 | 3005584 |
| ENSE00002210673 | 3028881 | 3029280 |
| ENSE00002885593 | 2997644 | 2997955 |
| ENSE00003466678 | 3025020 | 3025082 |
| ENSE00003472047 | 3028319 | 3028382 |
| ENSE00003480455 | 3013669 | 3013818 |
| ENSE00003499703 | 3028706 | 3028803 |
| ENSE00003509679 | 3019699 | 3019773 |
| ENSE00003523475 | 3014570 | 3014614 |
| ENSE00003532336 | 3017840 | 3017859 |
| ENSE00003607265 | 3011022 | 3011160 |
| ENSE00003638864 | 3015653 | 3015760 |
| ENSE00003654994 | 3027829 | 3027873 |
| ENSE00003673556 | 3019283 | 3019463 |
Expression profiles
Bgee: expression breadth ubiquitous, 293 present calls, max score 99.32.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.5996 / max 517.3361, expressed in 1111 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 178224 | 4.3107 | 861 |
| 178225 | 3.1118 | 854 |
| 178223 | 0.0684 | 23 |
| 178221 | 0.0682 | 35 |
| 178222 | 0.0405 | 24 |
Top tissues by expression
299 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cerebellar hemisphere | UBERON:0002245 | 99.32 | gold quality |
| cerebellar cortex | UBERON:0002129 | 99.31 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 99.26 | gold quality |
| cerebellum | UBERON:0002037 | 99.05 | gold quality |
| cerebellar vermis | UBERON:0004720 | 98.64 | gold quality |
| nerve | UBERON:0001021 | 97.99 | gold quality |
| tibial nerve | UBERON:0001323 | 97.99 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.70 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.54 | gold quality |
| left uterine tube | UBERON:0001303 | 97.27 | gold quality |
| thyroid gland | UBERON:0002046 | 97.08 | gold quality |
| parotid gland | UBERON:0001831 | 96.97 | gold quality |
| apex of heart | UBERON:0002098 | 96.93 | gold quality |
| sural nerve | UBERON:0015488 | 96.89 | gold quality |
| body of uterus | UBERON:0009853 | 96.86 | gold quality |
| right atrium auricular region | UBERON:0006631 | 96.54 | gold quality |
| paraflocculus | UBERON:0005351 | 96.29 | gold quality |
| cardiac atrium | UBERON:0002081 | 95.99 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 95.65 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 95.49 | gold quality |
| minor salivary gland | UBERON:0001830 | 95.16 | gold quality |
| endocervix | UBERON:0000458 | 94.84 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 94.55 | gold quality |
| myometrium | UBERON:0001296 | 94.53 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 94.29 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 94.07 | gold quality |
| metanephros cortex | UBERON:0010533 | 93.99 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 93.99 | gold quality |
| lower esophagus | UBERON:0013473 | 93.97 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 93.95 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.74 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): HLF, PROP1, TCF3
miRNA regulators (miRDB)
18 targeting TLE2, 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-6722-3P | 99.45 | 67.62 | 1919 |
| HSA-MIR-6808-5P | 99.31 | 66.23 | 2150 |
| HSA-MIR-422A | 99.18 | 65.83 | 550 |
| HSA-MIR-1909-3P | 99.03 | 66.56 | 1662 |
| HSA-MIR-4764-5P | 98.88 | 65.53 | 894 |
| HSA-MIR-331-3P | 98.76 | 64.91 | 793 |
| HSA-MIR-378A-3P | 98.43 | 66.10 | 548 |
| HSA-MIR-378B | 98.43 | 65.36 | 573 |
| HSA-MIR-378C | 98.43 | 66.10 | 548 |
| HSA-MIR-378D | 98.43 | 66.10 | 548 |
| HSA-MIR-378E | 98.43 | 65.99 | 551 |
| HSA-MIR-378F | 98.43 | 65.66 | 554 |
| HSA-MIR-378H | 98.43 | 66.16 | 545 |
| HSA-MIR-378I | 98.43 | 66.10 | 548 |
| HSA-MIR-6810-3P | 97.96 | 64.57 | 1023 |
| HSA-MIR-5571-3P | 97.80 | 66.07 | 640 |
| HSA-MIR-2278 | 97.30 | 66.19 | 1130 |
| HSA-MIR-4435 | 95.90 | 65.47 | 1201 |
Literature-anchored findings (GeneRIF, showing 1)
- Immunofluorescence analysis showed that TLE2 and RTA were colocalized in the same nuclear compartment in KSHV-infected cells. (PMID:19939918)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tle2b | ENSDARG00000008767 |
| danio_rerio | tle2a | ENSDARG00000042484 |
| danio_rerio | tle2c | ENSDARG00000067832 |
| mus_musculus | Tle2 | ENSMUSG00000034771 |
| rattus_norvegicus | Tle2 | ENSRNOG00000005874 |
Paralogs (6): TLE6 (ENSG00000104953), TLE5 (ENSG00000104964), TLE4 (ENSG00000106829), TLE3 (ENSG00000140332), TLE1 (ENSG00000196781), TLE7 (ENSG00000260734)
Protein
Protein identifiers
Transducin-like enhancer protein 2 — Q04725 (reviewed: Q04725)
Alternative names: Enhancer of split groucho-like protein 2
All UniProt accessions (7): Q04725, K7EJR7, K7EK93, K7EMK7, K7EPD4, K7EPF3, K7ESD8
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional corepressor that binds to a number of transcription factors. Inhibits the transcriptional activation mediated by CTNNB1 and TCF family members in Wnt signaling. The effects of full-length TLE family members may be modulated by association with dominant-negative AES.
Subunit / interactions. Homooligomer and heterooligomer with other family members. Binds LEF1, TCF7, TCF7L1, TCF7L2, UTY, HES1 and HES5.
Subcellular location. Nucleus.
Tissue specificity. In all tissues examined, mostly in heart, brain, and muscle.
Post-translational modifications. Ubiquitinated by XIAP/BIRC4.
Domain organisation. WD repeat Groucho/TLE family members are characterized by 5 regions, a glutamine-rich Q domain, a glycine/proline-rich GP domain, a central CcN domain, containing a nuclear localization signal, and a serine/proline-rich SP domain. The most highly conserved are the N-terminal Q domain and the C-terminal WD-repeat domain.
Similarity. Belongs to the WD repeat Groucho/TLE family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q04725-1 | 1 | yes |
| Q04725-2 | 2 | |
| Q04725-3 | 3 |
RefSeq proteins (4): NP_001138233, NP_001138234, NP_001287775, NP_003251* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR005617 | Groucho/TLE_N | Domain |
| IPR009146 | Groucho_enhance | Family |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR019775 | WD40_repeat_CS | Conserved_site |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
Pfam: PF00400, PF03920
UniProt features (34 total): region of interest 7, sequence conflict 7, repeat 6, splice variant 5, modified residue 4, compositionally biased region 2, chain 1, short sequence motif 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q04725-F1 | 68.40 | 0.41 |
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 (4): 228, 249, 253, 281
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-201722 | Formation of the beta-catenin:TCF transactivating complex |
| R-HSA-2122947 | NOTCH1 Intracellular Domain Regulates Transcription |
| R-HSA-3769402 | Deactivation of the beta-catenin transactivating complex |
| R-HSA-4641265 | Repression of WNT target genes |
MSigDB gene sets: 148 (showing top):
REACTOME_SIGNALING_BY_NOTCH, BENPORATH_ES_WITH_H3K27ME3, XU_GH1_AUTOCRINE_TARGETS_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A5, MODULE_66, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_CANONICAL_WNT_SIGNALING_PATHWAY, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, MODULE_88, MODULE_6, MODULE_11, MODULE_60, MODULE_38
GO Biological Process (6): signal transduction (GO:0007165), animal organ morphogenesis (GO:0009887), Wnt signaling pathway (GO:0016055), negative regulation of DNA-templated transcription (GO:0045892), negative regulation of canonical Wnt signaling pathway (GO:0090090), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (2): transcription corepressor activity (GO:0003714), protein binding (GO:0005515)
GO Cellular Component (6): obsolete extracellular space (GO:0005615), nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription regulator complex (GO:0005667), focal adhesion (GO:0005925), nuclear body (GO:0016604)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| TCF dependent signaling in response to WNT | 2 |
| Signaling by NOTCH1 | 1 |
| Degradation of beta-catenin by the destruction complex | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA-templated transcription | 2 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| anatomical structure morphogenesis | 1 |
| animal organ development | 1 |
| cell surface receptor signaling pathway | 1 |
| regulation of DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| negative regulation of Wnt signaling pathway | 1 |
| canonical Wnt signaling pathway | 1 |
| regulation of canonical Wnt signaling pathway | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| transcription coregulator activity | 1 |
| negative regulation of DNA-templated transcription | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| protein-containing complex | 1 |
| cell-substrate junction | 1 |
| nucleoplasm | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
750 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TLE2 | HLF | Q16534 | 755 |
| TLE2 | SRPX2 | O60687 | 667 |
| TLE2 | PIK3R1 | P27986 | 656 |
| TLE2 | A0A087WTN9 | A0A087WTN9 | 639 |
| TLE2 | DBP | Q10586 | 586 |
| TLE2 | TFPT | P0C1Z6 | 559 |
| TLE2 | PPP1R3A | Q16821 | 557 |
| TLE2 | RUNX1 | Q01196 | 547 |
| TLE2 | ASTN2 | O75129 | 547 |
| TLE2 | FBXO40 | Q9UH90 | 543 |
| TLE2 | TEF | Q10587 | 541 |
| TLE2 | CDH9 | Q9ULB4 | 540 |
| TLE2 | CTNNB1 | P35222 | 535 |
| TLE2 | CDH10 | Q9Y6N8 | 532 |
| TLE2 | GRB2 | P29354 | 518 |
IntAct
44 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CTNNBIP1 | APC | psi-mi:“MI:0914”(association) | 0.740 |
| TLE2 | CCT6A | psi-mi:“MI:0914”(association) | 0.640 |
| RIPPLY1 | TLE2 | psi-mi:“MI:0914”(association) | 0.530 |
| RIPPLY2 | TLE2 | psi-mi:“MI:0914”(association) | 0.530 |
| TLE2 | TCP1 | psi-mi:“MI:0914”(association) | 0.530 |
| TLE4 | TLE1 | psi-mi:“MI:0914”(association) | 0.530 |
| LYZL6 | COL6A1 | psi-mi:“MI:0914”(association) | 0.530 |
| TLE2 | HSPA8 | psi-mi:“MI:0914”(association) | 0.530 |
| DDB1 | TLE2 | psi-mi:“MI:0915”(physical association) | 0.500 |
| NUDC | TLE2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TLE2 | VENTX | psi-mi:“MI:0915”(physical association) | 0.370 |
| TLE2 | TLX3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TLE2 | BARHL1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| EMX2 | TLE2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FOXA3 | TLE2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MSX1 | TLE2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MSX2 | TLE2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PAX9 | TLE2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CUL4B | TLE1 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL4B | TLE2 | psi-mi:“MI:0914”(association) | 0.350 |
| TLE2 | CUL4B | psi-mi:“MI:0914”(association) | 0.350 |
| TLE3 | ATP2A1 | psi-mi:“MI:0914”(association) | 0.350 |
| HLX | SCAF4 | psi-mi:“MI:0914”(association) | 0.350 |
| TLE4 | TLE2 | psi-mi:“MI:0914”(association) | 0.350 |
| DCAF4 | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
| MFAP4 | CRLF1 | psi-mi:“MI:0914”(association) | 0.350 |
| RIPPLY3 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| EN1 | MEIS1 | psi-mi:“MI:0914”(association) | 0.350 |
| ANKRD50 | PPP1R12A | psi-mi:“MI:0914”(association) | 0.350 |
| MFAP4 | PEX1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (425): TLE2 (Affinity Capture-MS), TLE2 (Affinity Capture-MS), TLE2 (Affinity Capture-MS), TLE2 (Affinity Capture-MS), TLE2 (Affinity Capture-MS), TLE2 (Affinity Capture-MS), TLE2 (Affinity Capture-MS), TLE2 (Two-hybrid), TLE2 (Affinity Capture-MS), TLE2 (Affinity Capture-MS), TLE2 (Affinity Capture-MS), TLE2 (Affinity Capture-MS), TLE2 (Affinity Capture-MS), CCT7 (Affinity Capture-MS), TLE2 (Affinity Capture-MS)
ESM2 similar proteins: A3KMV1, B9EHT4, D3YWQ0, D5SHR0, F1MAB7, F5HB62, O42406, O75426, O75592, O75912, O95343, P03177, P0C5J9, P42859, P51111, P59114, P59438, Q04725, Q08274, Q0VD00, Q1HVD1, Q2TAL5, Q3KSQ2, Q3V0G7, Q4G017, Q4R327, Q4VC12, Q5R686, Q5U464, Q5VVW2, Q6NRL1, Q6P7W2, Q7TPH6, Q80TM9, Q80VW5, Q810W9, Q8BFX3, Q8CH72, Q8CI12, Q8K0E1
Diamond homologs: A0A1W2PR48, O02482, O13166, O13168, O42469, O42478, P16371, Q04724, Q04725, Q04726, Q04727, Q07141, Q08122, Q62440, Q62441, Q9H808, Q9JIT3, Q9WVB2, Q9WVB3, A0A223GEB2, A1L271, A6H603, G4MQX3, O14775, P23232, P25387, P62881, P62882, Q01369, Q10051, Q149M9, Q5GIS3, Q5RDY7, Q61FW2, Q6NUD0, Q6PBY0, Q6PNB6, Q80ZD0, Q9BYB4, A0JMQ0
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TLE2 | down-regulates | LEF1 | binding |
| PHF12 | “up-regulates activity” | TLE2 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 44 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 |
|---|---|---|---|
| Deactivation of the beta-catenin transactivating complex | 5 | 38.8× | 3e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein folding | 6 | 14.1× | 7e-04 |
| negative regulation of canonical Wnt signaling pathway | 5 | 13.4× | 2e-03 |
| Wnt signaling pathway | 5 | 11.3× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
155 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 118 |
| Likely benign | 10 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3106 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:2997961:A:T | acceptor_gain | 1.0000 |
| 19:3000643:GTACC:G | donor_loss | 1.0000 |
| 19:3000644:TACC:T | donor_loss | 1.0000 |
| 19:3000645:A:T | donor_loss | 1.0000 |
| 19:3000723:CCT:C | acceptor_gain | 1.0000 |
| 19:3000725:T:C | acceptor_gain | 1.0000 |
| 19:3000725:T:TC | acceptor_gain | 1.0000 |
| 19:3002368:T:TA | donor_gain | 1.0000 |
| 19:3002384:G:C | donor_gain | 1.0000 |
| 19:3002499:AAAAT:A | acceptor_gain | 1.0000 |
| 19:3002500:AAAT:A | acceptor_gain | 1.0000 |
| 19:3002501:AAT:A | acceptor_gain | 1.0000 |
| 19:3002502:AT:A | acceptor_gain | 1.0000 |
| 19:3002504:C:CC | acceptor_gain | 1.0000 |
| 19:3002510:G:GC | acceptor_gain | 1.0000 |
| 19:3005940:T:C | acceptor_gain | 1.0000 |
| 19:3005964:CGGTT:C | acceptor_gain | 1.0000 |
| 19:3005965:GGTT:G | acceptor_gain | 1.0000 |
| 19:3005967:TT:T | acceptor_gain | 1.0000 |
| 19:3005969:C:CA | acceptor_loss | 1.0000 |
| 19:3005969:C:CC | acceptor_gain | 1.0000 |
| 19:3005970:T:A | acceptor_loss | 1.0000 |
| 19:3005976:C:CT | acceptor_gain | 1.0000 |
| 19:3005977:G:T | acceptor_gain | 1.0000 |
| 19:3013849:T:TC | acceptor_gain | 1.0000 |
| 19:3014565:CTCA:C | donor_loss | 1.0000 |
| 19:3014567:CA:C | donor_loss | 1.0000 |
| 19:3014568:A:AC | donor_gain | 1.0000 |
| 19:3014569:C:CC | donor_gain | 1.0000 |
| 19:3014569:C:CT | donor_loss | 1.0000 |
AlphaMissense
4826 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:2997891:C:T | G730D | 1.000 |
| 19:3000679:A:G | W698R | 1.000 |
| 19:3000679:A:T | W698R | 1.000 |
| 19:3000703:C:A | G690W | 1.000 |
| 19:3000707:G:C | S688R | 1.000 |
| 19:3000707:G:T | S688R | 1.000 |
| 19:3000709:T:G | S688R | 1.000 |
| 19:3002498:G:C | F634L | 1.000 |
| 19:3002498:G:T | F634L | 1.000 |
| 19:3002500:A:G | F634L | 1.000 |
| 19:3005485:C:A | W616C | 1.000 |
| 19:3005485:C:G | W616C | 1.000 |
| 19:3005487:A:G | W616R | 1.000 |
| 19:3005487:A:T | W616R | 1.000 |
| 19:3005504:T:A | D610V | 1.000 |
| 19:3005504:T:G | D610A | 1.000 |
| 19:3005505:C:G | D610H | 1.000 |
| 19:3005511:C:G | G608R | 1.000 |
| 19:3005513:C:T | G607E | 1.000 |
| 19:3005514:C:A | G607W | 1.000 |
| 19:3005551:G:C | C594W | 1.000 |
| 19:3005554:G:C | S593R | 1.000 |
| 19:3005554:G:T | S593R | 1.000 |
| 19:3005556:T:G | S593R | 1.000 |
| 19:3005561:C:T | G591D | 1.000 |
| 19:3005574:C:G | G587R | 1.000 |
| 19:3005749:A:G | W574R | 1.000 |
| 19:3005749:A:T | W574R | 1.000 |
| 19:3005751:A:T | V573D | 1.000 |
| 19:3005763:C:A | G569V | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000135067 (19:3016233 G>A), RS1000204481 (19:3030747 C>G), RS1000219547 (19:3043197 C>T), RS1000260471 (19:3010424 C>T), RS1000273671 (19:3001793 T>C), RS1000407448 (19:3048964 A>C), RS1000464638 (19:3016608 T>A), RS1000474893 (19:3031029 C>T), RS1000504053 (19:2999982 G>A), RS1000684649 (19:2997257 G>C), RS1000756326 (19:3024875 G>A), RS1000779583 (19:3041695 C>T), RS1000807593 (19:3020834 A>C,G), RS1000815547 (19:3033747 T>A), RS1000827487 (19:3006917 G>C,T)
Disease associations
OMIM: gene MIM:601041 | disease phenotypes:
GenCC curated gene-disease
Mondo (2): neutropenia (MONDO:0001475), lymphopenia (MONDO:0003783)
Orphanet (0):
HPO phenotypes
2 total (2 of 2 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0001875 | Decreased total neutrophil count |
| HP:0001888 | Decreased total lymphocyte count |
GWAS associations
0 associations (top):
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008231 | Lymphopenia | C15.378.243.750.605; C15.378.553.546.605; C20.673.627 |
| D009503 | Neutropenia | C15.378.243.750.184.564; C15.378.553.546.184.564 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| entinostat | increases expression, affects cotreatment | 2 |
| Arsenic Trioxide | decreases expression, increases expression | 2 |
| Nickel | decreases expression | 2 |
| Valproic Acid | increases expression, increases methylation | 2 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol A | decreases methylation | 1 |
| methylselenic acid | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Folic Acid | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Lead | affects expression | 1 |
| Phenobarbital | affects expression | 1 |
| Plant Extracts | decreases expression, affects cotreatment | 1 |
| Progesterone | increases expression | 1 |
| Selenium | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D8X6 | Ubigene HCT 116 TLE2 KO | Cancer cell line | Male |
Clinical trials (associated diseases)
199 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00030758 | PHASE4 | UNKNOWN | Filgrastim or Pegfilgrastim in Preventing Neutropenia in Women Receiving Chemotherapy Following Surgery for Breast Cancer |
| NCT00125723 | PHASE4 | COMPLETED | FIRST - Study of Pegfilgrastim Administered in the First and Subsequent Cycles of Myelosuppressive Chemotherapy |
| NCT00194857 | PHASE4 | TERMINATED | Treatment of Anemia and Neutropenia in HIV/HCV Coinfected Patients Treated With Pegylated Interferon and Ribavirin |
| NCT00257790 | PHASE4 | COMPLETED | The Tobramycin Study |
| NCT00277160 | PHASE4 | COMPLETED | A Study of Primary Prophylaxis With Neulasta (Pegfilgrastim) Versus Secondary Prophylaxis After Chemotherapy in Elderly Subjects (>/= 65 Years Old) With Cancer |
| NCT00686543 | PHASE4 | COMPLETED | Oral Posaconazole in High Risk Patients With Gastrointestinal Dysfunction (Study P05115) |
| NCT01086878 | PHASE4 | COMPLETED | Safety of Cotrimoxazole in HIV- and HAART-exposed Infants |
| NCT01114165 | PHASE4 | COMPLETED | Value of the LightCycler® SeptiFast Test MGRADE for the Pathogen Detection in Neutropenic Hematological Patients |
| NCT01135589 | PHASE4 | UNKNOWN | Micafungin Prevention Study for Fungal Disease in Child Receiving Allogenic Hematopoietic Stem Cell Transplantation |
| NCT01571518 | PHASE4 | UNKNOWN | Prevention of Neutropenia After Using G-CSF With TAC Chemotherapy |
| NCT02621905 | PHASE4 | COMPLETED | Steady-State Comparative Bioavailability Study in Prophylaxis Patients of Lozanoc® 50 mg With Sporanox® 100 mg |
| NCT02967341 | PHASE4 | UNKNOWN | Blood Draw Validation for Ciprofloxacin Pharmacokinetic Research in Pediatric Cancer Patients |
| NCT04009941 | PHASE4 | COMPLETED | Efficacy and Safety of 4.5mg PEG-rhG-CSF Per Cycle in Preventing Neutropenia After Intensive Chemotherapy for Breast Cancer |
| NCT04904614 | PHASE4 | COMPLETED | Letermovir Use in Heart Transplant Recipients |
| NCT05626530 | PHASE4 | RECRUITING | Letermovir for Secondary Prophylaxis in Solid Organ Transplant Recipients |
| NCT06145321 | PHASE4 | ACTIVE_NOT_RECRUITING | Continuous Versus Bolus Administration of G-CSF in Children With Cancer |
| NCT00001338 | PHASE3 | COMPLETED | A Prospective, Randomized, Phase III Trial of FLAC (5-Fluorouracil, Leucovorin, Adriamycin, Cytoxan) Chemotherapy With GM-CSF (Granulocyte-Macrophage Colony-Stimulating Factor) Versus PIXY 321 in Advanced Breast Cancer |
| NCT00001646 | PHASE3 | COMPLETED | Voriconazole vs. Amphotericin B in the Treatment of Invasive Aspergillosis |
| NCT00002658 | PHASE3 | UNKNOWN | Combination Chemotherapy, Biological Therapy, and Bone Marrow Transplantation in Treating Patients With Acute Myeloid Leukemia |
| NCT00002719 | PHASE3 | COMPLETED | Combination Chemotherapy With or Without G-CSF in Treating Older Patients With Acute Myeloid Leukemia |
| NCT00003739 | PHASE3 | COMPLETED | Antibiotic Therapy With or Without G-CSF in Treating Children With Neutropenia and Fever Caused by Chemotherapy |
| NCT00020865 | PHASE3 | UNKNOWN | Levofloxacin Compared With Cefepime in Treating Cancer Patients With Fever and Neutropenia |
| NCT00035594 | PHASE3 | COMPLETED | Pegfilgrastim as Support to Advanced Breast Cancer Patients Receiving Chemotherapy |
| NCT00044486 | PHASE3 | COMPLETED | Prophylaxis Trial of Posaconazole Versus Standard Azole Therapy for Neutropenic Patients (Study P01899) |
| NCT00107081 | PHASE3 | TERMINATED | Low-risk Fever and Neutropenia in Children With Cancer: Safety and Efficacy of Oral Antibiotics in an Outpatient Setting |
| NCT00445497 | PHASE3 | UNKNOWN | Early Hospital Discharge or Standard Inpatient Care in Cancer Patients Receiving Antibiotics for Febrile Neutropenia |
| NCT00529282 | PHASE3 | TERMINATED | A Study of Ceftobiprole in Patients With Fever and Neutropenia. |
| NCT00627393 | PHASE3 | COMPLETED | Safety and Effectiveness of Granulocyte Transfusions in Resolving Infection in People With Neutropenia (The RING Study) |
| NCT00770172 | PHASE3 | COMPLETED | G-CSF in Preventing Neutropenia in Patients With Solid Tumors Who Are Receiving Chemotherapy |
| NCT00784368 | PHASE3 | COMPLETED | A Pharmacokinetic Study of JK1211(Itraconazole [Itrizole]) Oral Solution in Participants With Deep Mycosis and Those With Febrile Neutropenia Suspected of Fungal Infection |
| NCT00806351 | PHASE3 | TERMINATED | An Evaluation Of The Effectiveness And Safety Of Anidulafungin Compared To Caspofungin For The Treatment Of Serious Fungal Infection Due To Candida In Patients With A Dysfunctional Immune System |
| NCT00911170 | PHASE3 | COMPLETED | PAVES: Pegfilgrastim Anti-vascular Endothelial Growth Factor (VEGF) Evaluation Study |
| NCT01307579 | PHASE3 | COMPLETED | Caspofungin Versus Fluconazole in Preventing Invasive Fungal Infections (IFI) in Patients Undergoing Chemotherapy for Acute Myeloid Leukemia |
| NCT01371656 | PHASE3 | COMPLETED | Levofloxacin in Preventing Infection in Young Patients With Acute Leukemia Receiving Chemotherapy or Undergoing Stem Cell Transplantation |
| NCT01560195 | PHASE3 | UNKNOWN | A Study of Pegylated rhG-CSF as Support to Advanced Non-Small-Cell Lung Cancer (NSCLC) Patients Receiving Chemotherapy Receiving Chemotherapy |
| NCT01611051 | PHASE3 | COMPLETED | A Study Comparing Pegylated rhG-CSF and rhG-CSF as Support to Breast Cancer Patients Receiving Chemotherapy |
| NCT02238873 | PHASE3 | UNKNOWN | Pegfilgrastim on Day +3 Compared to Day +1 After Salvage Chemotherapy for Patients With Refractory or Relapsed Aggressive Lymphoma |
| NCT02414581 | PHASE3 | COMPLETED | Mouthwash With Chlorhexidine 0.12%/Ethyl Alcohol 7% Compared to Ethyl Alcohol 7% |
| NCT02643420 | PHASE3 | COMPLETED | SPI-2012 vs Pegfilgrastim in the Management of Neutropenia in Participants With Breast Cancer With Docetaxel and Cyclophosphamide (ADVANCE) |
| NCT02872103 | PHASE3 | COMPLETED | Placebo-controlled Trial of F-627 in Women With Breast Cancer Receiving Myelotoxic Chemotherapy |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): lymphopenia, neutropenia