ZC3H3
geneOn this page
Also known as KIAA0150
Summary
ZC3H3 (zinc finger CCCH-type containing 3, HGNC:28972) is a protein-coding gene on chromosome 8q24.3, encoding Zinc finger CCCH domain-containing protein 3 (Q8IXZ2). Required for the export of polyadenylated mRNAs from the nucleus. It is a selective cancer dependency (DepMap: 16.4% of cell lines).
Predicted to enable DNA binding activity; R-SMAD binding activity; and zinc ion binding activity. Predicted to be involved in mRNA transport. Predicted to act upstream of or within mRNA 3’-end processing and positive regulation of activin receptor signaling pathway. Located in nucleus.
Source: NCBI Gene 23144 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 246 total
- Phenotypes (HPO): 2
- Cancer dependency (DepMap): dependent in 16.4% of screened cell lines
- MANE Select transcript:
NM_015117
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28972 |
| Approved symbol | ZC3H3 |
| Name | zinc finger CCCH-type containing 3 |
| Location | 8q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0150 |
| Ensembl gene | ENSG00000014164 |
| Ensembl biotype | protein_coding |
| OMIM | 618640 |
| Entrez | 23144 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 5 protein_coding
ENST00000262577, ENST00000528401, ENST00000875766, ENST00000932295, ENST00000932296
RefSeq mRNA: 1 — MANE Select: NM_015117
NM_015117
CCDS: CCDS6402
Canonical transcript exons
ENST00000262577 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000487293 | 143536257 | 143536453 |
| ENSE00000876572 | 143541376 | 143541447 |
| ENSE00001140266 | 143465717 | 143465848 |
| ENSE00001140276 | 143468209 | 143468278 |
| ENSE00001140283 | 143468382 | 143468540 |
| ENSE00001140289 | 143468617 | 143468659 |
| ENSE00001140296 | 143475398 | 143475585 |
| ENSE00001209896 | 143507746 | 143507899 |
| ENSE00001209902 | 143538003 | 143539320 |
| ENSE00001254909 | 143440936 | 143441120 |
| ENSE00001254986 | 143440041 | 143440363 |
| ENSE00001338604 | 143437659 | 143438087 |
Expression profiles
Bgee: expression breadth ubiquitous, 184 present calls, max score 90.16.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.9028 / max 57.0692, expressed in 1769 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 95477 | 8.8210 | 1769 |
| 95478 | 0.0648 | 18 |
| 95470 | 0.0170 | 8 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 90.16 | gold quality |
| oocyte | CL:0000023 | 88.71 | gold quality |
| secondary oocyte | CL:0000655 | 86.50 | gold quality |
| granulocyte | CL:0000094 | 86.09 | gold quality |
| gastrocnemius | UBERON:0001388 | 85.97 | gold quality |
| endometrium epithelium | UBERON:0004811 | 85.93 | silver quality |
| hindlimb stylopod muscle | UBERON:0004252 | 85.63 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 84.94 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 84.68 | gold quality |
| apex of heart | UBERON:0002098 | 84.24 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 84.23 | gold quality |
| muscle of leg | UBERON:0001383 | 84.19 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.45 | gold quality |
| skin of leg | UBERON:0001511 | 83.32 | gold quality |
| right testis | UBERON:0004534 | 83.01 | gold quality |
| left testis | UBERON:0004533 | 82.95 | gold quality |
| omental fat pad | UBERON:0010414 | 82.95 | gold quality |
| peritoneum | UBERON:0002358 | 82.83 | gold quality |
| transverse colon | UBERON:0001157 | 82.57 | gold quality |
| lower esophagus | UBERON:0013473 | 82.49 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 82.49 | gold quality |
| skin of abdomen | UBERON:0001416 | 82.45 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 82.44 | gold quality |
| small intestine | UBERON:0002108 | 82.04 | gold quality |
| popliteal artery | UBERON:0002250 | 81.92 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 81.92 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 81.91 | gold quality |
| tibial artery | UBERON:0007610 | 81.90 | gold quality |
| left uterine tube | UBERON:0001303 | 81.88 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 81.85 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-5061 | yes | 15.52 |
| E-ANND-3 | no | 2.53 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
31 targeting ZC3H3, 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-4500 | 99.99 | 72.72 | 2367 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-9718 | 99.94 | 68.91 | 918 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-5695 | 99.41 | 67.48 | 1047 |
| HSA-MIR-4316 | 99.37 | 65.75 | 1360 |
| HSA-MIR-661 | 99.09 | 65.94 | 2062 |
| HSA-MIR-6848-5P | 98.81 | 65.49 | 1126 |
| HSA-MIR-6804-5P | 98.39 | 65.77 | 1084 |
| HSA-MIR-7111-3P | 97.80 | 66.75 | 1467 |
| HSA-MIR-6781-3P | 97.44 | 66.85 | 970 |
| HSA-MIR-6501-5P | 97.41 | 68.24 | 712 |
| HSA-MIR-6131 | 97.22 | 66.72 | 960 |
| HSA-MIR-2682-3P | 97.10 | 66.16 | 840 |
| HSA-MIR-1226-5P | 96.50 | 65.28 | 643 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 16.4% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 1)
- three additional proteins required for Poly(A) Tail eXosome Targeting (PAXT) function: ZC3H3, RBM26 and RBM27 along with the known PAXT-associated protein, PABPN1, were identified. (PMID:31950173)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zc3h3 | ENSDARG00000090751 |
| mus_musculus | Zc3h3 | ENSMUSG00000075600 |
| rattus_norvegicus | Zc3h3 | ENSRNOG00000007684 |
| drosophila_melanogaster | ZC3H3 | FBGN0035900 |
Paralogs (2): CPSF4 (ENSG00000160917), CPSF4L (ENSG00000187959)
Protein
Protein identifiers
Zinc finger CCCH domain-containing protein 3 — Q8IXZ2 (reviewed: Q8IXZ2)
Alternative names: Smad-interacting CPSF-like factor
All UniProt accessions (2): Q8IXZ2, H0YEY2
UniProt curated annotations — full annotation on UniProt →
Function. Required for the export of polyadenylated mRNAs from the nucleus. Enhances ACVR1B-induced SMAD-dependent transcription. Binds to single-stranded DNA but not to double-stranded DNA in vitro. Involved in RNA cleavage.
Subunit / interactions. Interacts with SMAD1, SMAD3, SMAD4, CPSF2 and CPSF3.
Subcellular location. Nucleus.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8IXZ2-1 | 1 | yes |
| Q8IXZ2-2 | 2 |
RefSeq proteins (1): NP_055932* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000571 | Znf_CCCH | Domain |
| IPR036855 | Znf_CCCH_sf | Homologous_superfamily |
Pfam: PF00642
UniProt features (43 total): sequence variant 16, compositionally biased region 9, region of interest 6, zinc finger region 5, modified residue 3, splice variant 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IXZ2-F1 | 52.45 | 0.12 |
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 (3): 408, 918, 920
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9930044 | Nuclear RNA decay |
MSigDB gene sets: 100 (showing top):
SHEPARD_BMYB_MORPHOLINO_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY, MODULE_256, GOBP_MRNA_3_END_PROCESSING, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, LIAO_METASTASIS, GOBP_ACTIVIN_RECEPTOR_SIGNALING_PATHWAY, GOMF_SMAD_BINDING, MODULE_333, GOBP_RNA_LOCALIZATION, GOBP_POSITIVE_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY, GOBP_REGULATION_OF_ACTIVIN_RECEPTOR_SIGNALING_PATHWAY, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_UP, REACTOME_METABOLISM_OF_RNA
GO Biological Process (3): mRNA 3’-end processing (GO:0031124), positive regulation of activin receptor signaling pathway (GO:0032927), mRNA transport (GO:0051028)
GO Molecular Function (5): DNA binding (GO:0003677), zinc ion binding (GO:0008270), R-SMAD binding (GO:0070412), SMAD binding (GO:0046332), metal ion binding (GO:0046872)
GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Metabolism of RNA | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| mRNA processing | 1 |
| RNA 3’-end processing | 1 |
| activin receptor signaling pathway | 1 |
| regulation of activin receptor signaling pathway | 1 |
| positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 1 |
| RNA transport | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| SMAD binding | 1 |
| protein binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| mRNA cleavage factor complex | 1 |
Protein interactions and networks
STRING
1032 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZC3H3 | VIRMA | Q69YN4 | 718 |
| ZC3H3 | RBM15 | Q96T37 | 695 |
| ZC3H3 | RBM26 | Q5T8P6 | 581 |
| ZC3H3 | RBM15B | Q8NDT2 | 581 |
| ZC3H3 | TMEM276 | P0DTL5 | 572 |
| ZC3H3 | XKR7 | Q5GH72 | 501 |
| ZC3H3 | RBM27 | Q9P2N5 | 469 |
| ZC3H3 | ZFC3H1 | O60293 | 464 |
| ZC3H3 | TIGD5 | Q53EQ6 | 435 |
| ZC3H3 | EXOSC4 | Q9NPD3 | 410 |
| ZC3H3 | MPHOSPH6 | Q99547 | 408 |
| ZC3H3 | CRACDL | Q6NV74 | 403 |
| ZC3H3 | MRPL12 | P52815 | 396 |
| ZC3H3 | EXOSC1 | Q9Y3B2 | 391 |
| ZC3H3 | DIPK1A | Q5T7M9 | 390 |
IntAct
54 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CTBP2 | ZNF217 | psi-mi:“MI:0914”(association) | 0.690 |
| CACNG5 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| LTBR | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| MTMR9 | CENPF | psi-mi:“MI:0914”(association) | 0.530 |
| PNMA2 | CCDC85C | psi-mi:“MI:0914”(association) | 0.530 |
| TRMT1 | ZC3H3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Anapc13 | ANAPC15 | psi-mi:“MI:0914”(association) | 0.350 |
| KIF3C | ZC3H3 | psi-mi:“MI:0914”(association) | 0.350 |
| PTTG1 | PMS1 | psi-mi:“MI:0914”(association) | 0.350 |
| LLGL2 | RBBP6 | psi-mi:“MI:0914”(association) | 0.350 |
| THOC1 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| Ddb1 | psi-mi:“MI:0914”(association) | 0.350 | |
| Set | ZKSCAN1 | psi-mi:“MI:0914”(association) | 0.350 |
| ZFC3H1 | UNC119B | psi-mi:“MI:0914”(association) | 0.350 |
| SETD1B | WBP4 | psi-mi:“MI:0914”(association) | 0.350 |
| Klc3 | KLC1 | psi-mi:“MI:0914”(association) | 0.350 |
| Dnaaf5 | TPRN | psi-mi:“MI:0914”(association) | 0.350 |
| MIDEAS | SEC16A | psi-mi:“MI:0914”(association) | 0.350 |
| MZT1 | ZC3H18 | psi-mi:“MI:0914”(association) | 0.350 |
| LGALS3BP | CEP290 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNRD2 | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| APP | ZNF724 | psi-mi:“MI:0914”(association) | 0.350 |
| CTDSP2 | TBC1D4 | psi-mi:“MI:0914”(association) | 0.350 |
| ZC3H3 | ANKHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| APOBEC3D | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.350 |
| NKAPD1 | CASC3 | psi-mi:“MI:0914”(association) | 0.350 |
| IKZF5 | PEX14 | psi-mi:“MI:0914”(association) | 0.350 |
| PIPSL | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (376): ZC3H3 (Affinity Capture-RNA), ZC3H3 (Affinity Capture-RNA), ZC3H3 (Affinity Capture-MS), LARP7 (Affinity Capture-MS), RPL26L1 (Affinity Capture-MS), NIP7 (Affinity Capture-MS), NOP10 (Affinity Capture-MS), RPF1 (Affinity Capture-MS), RBM28 (Affinity Capture-MS), POP1 (Affinity Capture-MS), DDX24 (Affinity Capture-MS), MRPS9 (Affinity Capture-MS), FTSJ3 (Affinity Capture-MS), MRPS26 (Affinity Capture-MS), DDX21 (Affinity Capture-MS)
ESM2 similar proteins: A2BDC9, D3ZAP3, O08999, O35806, O60303, P04370, P24054, P53814, Q00918, Q09101, Q13438, Q14766, Q14767, Q28019, Q2Q0I9, Q3MHX6, Q4ZHG4, Q569E4, Q5BIR3, Q5R7R7, Q5RD34, Q5RKH6, Q5TCY1, Q5VUB5, Q5XI62, Q6A065, Q6WRH9, Q6ZPY7, Q7Z7G0, Q80U49, Q86UR5, Q8BJS7, Q8BSD5, Q8C8N3, Q8CG19, Q8CHP0, Q8IXZ2, Q8K2C7, Q91Z96, Q92615
Diamond homologs: O74823, Q8CHP0, Q8IXZ2, Q3ED78
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
246 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 199 |
| Likely benign | 26 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4083 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:143465713:TCA:T | donor_loss | 1.0000 |
| 8:143465715:A:AC | donor_gain | 1.0000 |
| 8:143465715:A:T | donor_loss | 1.0000 |
| 8:143465716:C:CC | donor_gain | 1.0000 |
| 8:143468205:TCAC:T | donor_loss | 1.0000 |
| 8:143468206:CACCT:C | donor_loss | 1.0000 |
| 8:143468207:A:C | donor_loss | 1.0000 |
| 8:143468208:CCTT:C | donor_gain | 1.0000 |
| 8:143468288:C:CT | acceptor_gain | 1.0000 |
| 8:143468378:GCACC:G | donor_loss | 1.0000 |
| 8:143468379:CA:C | donor_loss | 1.0000 |
| 8:143468381:C:T | donor_loss | 1.0000 |
| 8:143468401:T:A | donor_gain | 1.0000 |
| 8:143468536:CCCGG:C | acceptor_gain | 1.0000 |
| 8:143468537:CCGG:C | acceptor_gain | 1.0000 |
| 8:143468537:CCGGC:C | acceptor_gain | 1.0000 |
| 8:143468538:CGG:C | acceptor_gain | 1.0000 |
| 8:143468538:CGGC:C | acceptor_gain | 1.0000 |
| 8:143468539:GG:G | acceptor_gain | 1.0000 |
| 8:143468539:GGC:G | acceptor_loss | 1.0000 |
| 8:143468541:C:CC | acceptor_gain | 1.0000 |
| 8:143468541:CT:C | acceptor_loss | 1.0000 |
| 8:143475393:CTCAC:C | donor_loss | 1.0000 |
| 8:143475396:ACCTG:A | donor_loss | 1.0000 |
| 8:143475584:ACCT:A | acceptor_loss | 1.0000 |
| 8:143475585:CCT:C | acceptor_loss | 1.0000 |
| 8:143475586:C:CC | acceptor_gain | 1.0000 |
| 8:143475586:CTGCA:C | acceptor_loss | 1.0000 |
| 8:143475587:T:A | acceptor_loss | 1.0000 |
| 8:143507898:CG:C | acceptor_gain | 1.0000 |
AlphaMissense
6045 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:143465734:A:G | C764R | 1.000 |
| 8:143465747:G:C | F759L | 1.000 |
| 8:143465747:G:T | F759L | 1.000 |
| 8:143465749:A:G | F759L | 1.000 |
| 8:143465758:A:G | C756R | 1.000 |
| 8:143465800:A:G | C742R | 1.000 |
| 8:143465813:G:C | C737W | 1.000 |
| 8:143465839:A:G | C729R | 1.000 |
| 8:143468241:A:G | C715R | 1.000 |
| 8:143468387:G:C | C700W | 1.000 |
| 8:143468388:C:T | C700Y | 1.000 |
| 8:143468389:A:G | C700R | 1.000 |
| 8:143441050:C:G | C793S | 0.999 |
| 8:143441051:A:T | C793S | 0.999 |
| 8:143441095:C:G | C778S | 0.999 |
| 8:143441096:A:G | C778R | 0.999 |
| 8:143441096:A:T | C778S | 0.999 |
| 8:143441119:C:G | C770S | 0.999 |
| 8:143441120:A:G | C770R | 0.999 |
| 8:143441120:A:T | C770S | 0.999 |
| 8:143465732:G:C | C764W | 0.999 |
| 8:143465733:C:G | C764S | 0.999 |
| 8:143465733:C:T | C764Y | 0.999 |
| 8:143465734:A:T | C764S | 0.999 |
| 8:143465748:A:C | F759C | 0.999 |
| 8:143465748:A:G | F759S | 0.999 |
| 8:143465756:G:C | C756W | 0.999 |
| 8:143465757:C:A | C756F | 0.999 |
| 8:143465757:C:G | C756S | 0.999 |
| 8:143465757:C:T | C756Y | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000017760 (8:143455187 G>A), RS1000019482 (8:143517660 G>A), RS1000026970 (8:143530204 C>T), RS1000065577 (8:143475063 T>C), RS1000069540 (8:143439916 G>A,C), RS1000078780 (8:143442969 AG>A), RS1000127776 (8:143466701 T>C), RS1000131769 (8:143478372 C>T), RS1000173128 (8:143481025 C>T), RS1000231435 (8:143542486 C>T), RS1000231949 (8:143445813 G>A), RS1000234521 (8:143488789 G>C), RS1000246067 (8:143488538 C>A,G), RS1000282194 (8:143519964 C>G), RS1000318626 (8:143449375 C>T)
Disease associations
OMIM: gene MIM:618640 | 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
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009531_8 | Body fat percentage | 5.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007800 | body fat percentage |
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
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 3 |
| Arsenic | affects methylation, affects cotreatment, increases abundance, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression | 2 |
| Valproic Acid | affects cotreatment, increases expression, increases methylation | 2 |
| Aflatoxin B1 | affects expression, affects methylation | 2 |
| FR900359 | decreases phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| terbufos | increases methylation | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| cupric chloride | increases expression | 1 |
| abrine | increases expression | 1 |
| Decitabine | decreases expression, affects reaction | 1 |
| Sunitinib | decreases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Fonofos | increases methylation | 1 |
| Fluorouracil | affects expression | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Parathion | increases methylation | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases methylation | 1 |
| Cyclosporine | decreases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
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