ZC3H8
gene geneOn this page
Also known as Fliz1
Summary
ZC3H8 (zinc finger CCCH-type containing 8, HGNC:30941) is a protein-coding gene on chromosome 2q14.1, encoding Zinc finger CCCH domain-containing protein 8 (Q8N5P1). Acts as a transcriptional repressor of the GATA3 promoter. It is a common-essential gene (DepMap: required in 90.8% of cancer cell lines).
Enables RNA binding activity. Involved in several processes, including positive regulation of thymocyte apoptotic process; regulation of DNA-templated transcription; and snRNA transcription. Located in Cajal body; euchromatin; and histone locus body. Part of transcription elongation factor complex.
Source: NCBI Gene 84524 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 7 total
- Cancer dependency (DepMap): dependent in 90.8% of screened cell lines (common-essential)
- MANE Select transcript:
NM_032494
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30941 |
| Approved symbol | ZC3H8 |
| Name | zinc finger CCCH-type containing 8 |
| Location | 2q14.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Fliz1 |
| Ensembl gene | ENSG00000144161 |
| Ensembl biotype | protein_coding |
| OMIM | 621273 |
| Entrez | 84524 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 6 protein_coding, 3 protein_coding_CDS_not_defined, 2 retained_intron
ENST00000409573, ENST00000464305, ENST00000466259, ENST00000474234, ENST00000476902, ENST00000495264, ENST00000866699, ENST00000866700, ENST00000866701, ENST00000924270, ENST00000957654
RefSeq mRNA: 1 — MANE Select: NM_032494
NM_032494
CCDS: CCDS46392
Canonical transcript exons
ENST00000409573 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001009521 | 112230903 | 112230950 |
| ENSE00001579262 | 112254908 | 112255042 |
| ENSE00001579413 | 112211529 | 112216468 |
| ENSE00001587459 | 112231838 | 112231947 |
| ENSE00002462855 | 112233260 | 112233371 |
| ENSE00003463321 | 112234120 | 112234236 |
| ENSE00003491463 | 112238315 | 112238528 |
| ENSE00003518863 | 112250191 | 112250272 |
| ENSE00003566309 | 112236562 | 112236695 |
Expression profiles
Bgee: expression breadth ubiquitous, 253 present calls, max score 96.06.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.5166 / max 229.6578, expressed in 1761 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 30143 | 17.5166 | 1761 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 96.06 | gold quality |
| oocyte | CL:0000023 | 94.20 | gold quality |
| buccal mucosa cell | CL:0002336 | 92.69 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 91.19 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.17 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.65 | gold quality |
| endothelial cell | CL:0000115 | 88.54 | gold quality |
| tendon | UBERON:0000043 | 87.95 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.02 | gold quality |
| primary visual cortex | UBERON:0002436 | 86.77 | gold quality |
| corpus callosum | UBERON:0002336 | 86.07 | gold quality |
| body of pancreas | UBERON:0001150 | 86.00 | gold quality |
| occipital lobe | UBERON:0002021 | 85.34 | gold quality |
| muscle of leg | UBERON:0001383 | 85.15 | gold quality |
| gastrocnemius | UBERON:0001388 | 85.06 | gold quality |
| pituitary gland | UBERON:0000007 | 85.02 | gold quality |
| colonic epithelium | UBERON:0000397 | 85.01 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 84.80 | gold quality |
| cortical plate | UBERON:0005343 | 84.62 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 84.48 | gold quality |
| sural nerve | UBERON:0015488 | 84.24 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 84.21 | gold quality |
| vastus lateralis | UBERON:0001379 | 84.12 | gold quality |
| esophagus mucosa | UBERON:0002469 | 84.03 | gold quality |
| embryo | UBERON:0000922 | 84.00 | gold quality |
| ganglionic eminence | UBERON:0004023 | 84.00 | gold quality |
| quadriceps femoris | UBERON:0001377 | 83.99 | gold quality |
| cartilage tissue | UBERON:0002418 | 83.80 | gold quality |
| tibialis anterior | UBERON:0001385 | 83.52 | gold quality |
| muscle tissue | UBERON:0002385 | 83.42 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.62 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| GATA3 | Repression |
miRNA regulators (miRDB)
29 targeting ZC3H8, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-147B-5P | 99.45 | 70.62 | 2432 |
| HSA-MIR-377-3P | 99.37 | 70.18 | 1905 |
| HSA-MIR-4311 | 99.31 | 70.47 | 3041 |
| HSA-MIR-4738-3P | 98.98 | 67.98 | 1846 |
| HSA-MIR-224-3P | 98.91 | 68.42 | 1815 |
| HSA-MIR-522-3P | 98.91 | 68.56 | 1817 |
| HSA-MIR-29B-1-5P | 98.86 | 68.35 | 1364 |
| HSA-MIR-4477A | 98.83 | 69.75 | 2952 |
| HSA-MIR-513B-3P | 98.76 | 68.12 | 1577 |
| HSA-MIR-6512-5P | 98.76 | 69.29 | 1195 |
| HSA-MIR-4518 | 98.12 | 66.82 | 1030 |
| HSA-MIR-18B-3P | 98.05 | 65.55 | 595 |
| HSA-MIR-4769-3P | 97.95 | 68.17 | 1002 |
| HSA-MIR-6817-5P | 97.95 | 67.86 | 1026 |
| HSA-MIR-3652 | 97.71 | 65.43 | 1890 |
| HSA-MIR-1266-5P | 97.71 | 66.92 | 1052 |
| HSA-MIR-6782-3P | 97.60 | 67.75 | 931 |
| HSA-MIR-4430 | 97.47 | 65.61 | 1813 |
| HSA-MIR-6500-3P | 97.42 | 67.20 | 867 |
| HSA-MIR-6826-5P | 93.80 | 67.42 | 514 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 90.8% of screened cell lines, common-essential.
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Zc3h8 | ENSMUSG00000027387 |
| rattus_norvegicus | Zc3h8 | ENSRNOG00000017647 |
| caenorhabditis_elegans | WBGENE00020827 |
Paralogs (2): ZC3H4 (ENSG00000130749), ZC3H6 (ENSG00000188177)
Protein
Protein identifiers
Zinc finger CCCH domain-containing protein 8 — Q8N5P1 (reviewed: Q8N5P1)
All UniProt accessions (1): Q8N5P1
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a transcriptional repressor of the GATA3 promoter. Sequence-specific DNA-binding factor that binds to the 5’-AGGTCTC-3’ sequence within the negative cis-acting element intronic regulatory region (IRR) of the GATA3 gene. Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III. Induces thymocyte apoptosis when overexpressed, which may indicate a role in regulation of thymocyte homeostasis.
Subunit / interactions. Component of the little elongation complex (LEC), at least composed of ELL (ELL, ELL2 or ELL3), ZC3H8, ICE1 and ICE2. Interacts with ICE1 (via C-terminus domain).
Subcellular location. Nucleus.
Domain organisation. The N-terminal region and all three C3H1-type zinc fingers are necessary to induce transcriptional repression.
RefSeq proteins (1): NP_115883* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000571 | Znf_CCCH | Domain |
| IPR036855 | Znf_CCCH_sf | Homologous_superfamily |
| IPR045124 | Su(sable)-like | Family |
| IPR054361 | Znf-CCCH_ZC3H4/6/8 | Domain |
Pfam: PF00642, PF18345, PF22623
UniProt features (20 total): modified residue 6, zinc finger region 3, region of interest 3, compositionally biased region 3, sequence conflict 2, chain 1, cross-link 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N5P1-F1 | 67.70 | 0.14 |
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 (7): 22, 32, 59, 63, 77, 83, 43
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6807505 | RNA polymerase II transcribes snRNA genes |
MSigDB gene sets: 182 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_POSITIVE_REGULATION_OF_LYMPHOCYTE_APOPTOTIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, TGCGCANK_UNKNOWN, GOBP_POSITIVE_REGULATION_OF_LEUKOCYTE_APOPTOTIC_PROCESS, GOBP_REGULATION_OF_LEUKOCYTE_APOPTOTIC_PROCESS, GOBP_T_CELL_HOMEOSTASIS, GOBP_LYMPHOCYTE_HOMEOSTASIS, GOBP_TRANSCRIPTION_BY_RNA_POLYMERASE_III, GOBP_REGULATION_OF_LYMPHOCYTE_APOPTOTIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_CELL_CELL_ADHESION, GOBP_CELL_CELL_ADHESION
GO Biological Process (10): apoptotic process (GO:0006915), negative regulation of T cell differentiation in thymus (GO:0033085), snRNA transcription by RNA polymerase II (GO:0042795), snRNA transcription by RNA polymerase III (GO:0042796), T cell homeostasis (GO:0043029), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of transcription by RNA polymerase III (GO:0045945), response to antibiotic (GO:0046677), positive regulation of thymocyte apoptotic process (GO:0070245), negative regulation of transcription by RNA polymerase II (GO:0000122)
GO Molecular Function (6): RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), RNA binding (GO:0003723), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (8): chromatin (GO:0000785), euchromatin (GO:0000791), nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription elongation factor complex (GO:0008023), Cajal body (GO:0015030), nuclear body (GO:0016604), histone locus body (GO:0035363)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| RNA Polymerase II Transcription | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transcription by RNA polymerase II | 2 |
| snRNA transcription | 2 |
| transcription by RNA polymerase III | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| cellular anatomical structure | 2 |
| nucleoplasm | 2 |
| nuclear ribonucleoprotein granule | 2 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| T cell differentiation in thymus | 1 |
| regulation of T cell differentiation in thymus | 1 |
| negative regulation of T cell differentiation | 1 |
| lymphocyte homeostasis | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| regulation of transcription by RNA polymerase III | 1 |
| positive regulation of DNA-templated transcription | 1 |
| response to chemical | 1 |
| positive regulation of T cell apoptotic process | 1 |
| thymocyte apoptotic process | 1 |
| regulation of thymocyte apoptotic process | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| intronic transcription regulatory region sequence-specific DNA binding | 1 |
| negative regulation of transcription by RNA polymerase II | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription repressor activity | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| chromosome | 1 |
| chromatin | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| nuclear protein-containing complex | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1378 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZC3H8 | ICE1 | Q9Y2F5 | 878 |
| ZC3H8 | ICE2 | Q659A1 | 834 |
| ZC3H8 | ELL | P55199 | 781 |
| ZC3H8 | SMIM12 | Q96EX1 | 525 |
| ZC3H8 | SUB1 | P53999 | 501 |
| ZC3H8 | DPY19L3 | Q6ZPD9 | 494 |
| ZC3H8 | SYNE1 | Q8NF91 | 483 |
| ZC3H8 | LRRC40 | Q9H9A6 | 480 |
| ZC3H8 | PRPSAP1 | Q14558 | 477 |
| ZC3H8 | CMTM4 | Q8IZR5 | 475 |
| ZC3H8 | TMEM87B | Q96K49 | 470 |
| ZC3H8 | MNMIP1 | A4FU49 | 470 |
| ZC3H8 | LEPROTL1 | O95214 | 466 |
| ZC3H8 | PPP1R3G | B7ZBB8 | 459 |
| ZC3H8 | NLRP13 | Q86W25 | 452 |
IntAct
90 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LARP7 | CCNT1 | psi-mi:“MI:0914”(association) | 0.850 |
| H1-1 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| SNRPA1 | U2SURP | psi-mi:“MI:0914”(association) | 0.640 |
| ZNF764 | ZNF316 | psi-mi:“MI:0914”(association) | 0.640 |
| H1-6 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| MACROH2A2 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| E4F1 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| ZCRB1 | DKC1 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS3 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| ZC3H8 | RSL1D1 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| H1-1 | SURF6 | psi-mi:“MI:0914”(association) | 0.530 |
| THUMPD1 | YBX1 | psi-mi:“MI:0914”(association) | 0.530 |
| LIN28B | ELAVL2 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| RSL1D1 | METAP1 | psi-mi:“MI:0914”(association) | 0.530 |
| CSNK2A1 | ZC3H8 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| ZC3H8 | H3-4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZC3H8 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| NLRP3 | PHRF1 | psi-mi:“MI:0914”(association) | 0.350 |
| Tyw3 | PPP6C | psi-mi:“MI:0914”(association) | 0.350 |
| KSR1 | FAM168B | psi-mi:“MI:0914”(association) | 0.350 |
| k8 | RGL2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (109): ZC3H8 (Affinity Capture-MS), ZC3H8 (Affinity Capture-MS), ZC3H8 (Affinity Capture-MS), LARP7 (Affinity Capture-MS), THUMPD1 (Affinity Capture-MS), RPL26L1 (Affinity Capture-MS), ZCRB1 (Affinity Capture-MS), C8orf33 (Affinity Capture-MS), TUBA8 (Affinity Capture-MS), SF3B2 (Affinity Capture-MS), ZC3H8 (Affinity Capture-MS), ZC3H8 (Affinity Capture-MS), THUMPD1 (Affinity Capture-MS), TUBA8 (Affinity Capture-MS), ZC3H8 (Affinity Capture-MS)
ESM2 similar proteins: A5WW08, D3ZND0, D4A7V9, E1C760, E7EXT2, F7AEX0, O57589, P09926, P51612, Q01831, Q07617, Q07G43, Q08288, Q0VBD2, Q15527, Q28E45, Q28EG9, Q2YDS5, Q3KQ71, Q5D1Z3, Q5EAW4, Q5I0E6, Q5RDL2, Q5RET9, Q5RHY1, Q5U4Z3, Q5ZJF6, Q6AYK5, Q6DE94, Q6DFQ2, Q6IQ49, Q6XV80, Q7L590, Q7T293, Q7ZVP1, Q7ZZ00, Q80Y44, Q80ZX8, Q8BG17, Q8BVE8
Diamond homologs: P61129, Q6ZPZ3, Q8BYK8, Q8N5P1, Q9JJ48, Q9UPT8, Q9LTS7, P22293
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 112 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 |
|---|---|---|---|
| Eukaryotic Translation Initiation | 7 | 32.7× | 3e-08 |
| Cap-dependent Translation Initiation | 7 | 32.7× | 3e-08 |
| SARS-CoV-1 modulates host translation machinery | 7 | 32.7× | 3e-08 |
| Eukaryotic Translation Elongation | 7 | 29.5× | 6e-08 |
| Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S | 7 | 28.8× | 6e-08 |
| Nonsense-Mediated Decay (NMD) | 8 | 28.2× | 7e-09 |
| rRNA processing in the nucleus and cytosol | 10 | 24.4× | 2e-10 |
| SARS-CoV-2 modulates host translation machinery | 7 | 23.8× | 3e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 12 | 21.6× | 2e-10 |
| ribosomal large subunit biogenesis | 5 | 21.5× | 3e-04 |
| ribosomal small subunit biogenesis | 8 | 17.7× | 3e-06 |
| negative regulation of translation | 7 | 13.3× | 9e-05 |
| RNA processing | 6 | 12.8× | 6e-04 |
| rRNA processing | 9 | 12.4× | 7e-06 |
| translation | 12 | 12.0× | 1e-07 |
| RNA splicing | 10 | 8.6× | 3e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
7 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 3 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2213 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:112234107:CA:C | donor_gain | 1.0000 |
| 2:112234163:C:A | donor_gain | 1.0000 |
| 2:112235857:AGTGG:A | donor_gain | 1.0000 |
| 2:112236566:T:TA | donor_gain | 1.0000 |
| 2:112236693:CAG:C | acceptor_gain | 1.0000 |
| 2:112236696:C:CC | acceptor_gain | 1.0000 |
| 2:112238524:CTAAA:C | acceptor_gain | 1.0000 |
| 2:112238529:C:CC | acceptor_gain | 1.0000 |
| 2:112250189:A:AC | donor_gain | 1.0000 |
| 2:112250190:C:CC | donor_gain | 1.0000 |
| 2:112231953:CCAAG:C | acceptor_gain | 0.9900 |
| 2:112231954:CAAG:C | acceptor_gain | 0.9900 |
| 2:112233316:CA:C | donor_gain | 0.9900 |
| 2:112234106:A:AC | donor_gain | 0.9900 |
| 2:112234107:C:CC | donor_gain | 0.9900 |
| 2:112234131:T:A | donor_gain | 0.9900 |
| 2:112234150:A:AC | donor_gain | 0.9900 |
| 2:112234151:C:CC | donor_gain | 0.9900 |
| 2:112234162:T:A | donor_gain | 0.9900 |
| 2:112234236:CCTT:C | acceptor_gain | 0.9900 |
| 2:112236556:CAATA:C | donor_loss | 0.9900 |
| 2:112236557:AATAC:A | donor_loss | 0.9900 |
| 2:112236558:ATACC:A | donor_loss | 0.9900 |
| 2:112236559:TA:T | donor_loss | 0.9900 |
| 2:112236561:CC:C | donor_loss | 0.9900 |
| 2:112236563:T:TA | donor_gain | 0.9900 |
| 2:112236692:GCAG:G | acceptor_gain | 0.9900 |
| 2:112236693:CAGC:C | acceptor_gain | 0.9900 |
| 2:112236695:GCTA:G | acceptor_loss | 0.9900 |
| 2:112236697:T:C | acceptor_loss | 0.9900 |
AlphaMissense
1952 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:112233317:A:G | C226R | 1.000 |
| 2:112233361:C:G | C211S | 1.000 |
| 2:112233362:A:T | C211S | 1.000 |
| 2:112231883:A:C | F266L | 0.999 |
| 2:112231883:A:T | F266L | 0.999 |
| 2:112231885:A:G | F266L | 0.999 |
| 2:112231889:G:C | C264W | 0.999 |
| 2:112231890:C:G | C264S | 0.999 |
| 2:112231890:C:T | C264Y | 0.999 |
| 2:112231891:A:G | C264R | 0.999 |
| 2:112231891:A:T | C264S | 0.999 |
| 2:112231908:C:G | C258S | 0.999 |
| 2:112231909:A:G | C258R | 0.999 |
| 2:112231909:A:T | C258S | 0.999 |
| 2:112231924:G:C | H253D | 0.999 |
| 2:112231934:A:C | C249W | 0.999 |
| 2:112231935:C:A | C249F | 0.999 |
| 2:112231935:C:G | C249S | 0.999 |
| 2:112231935:C:T | C249Y | 0.999 |
| 2:112231936:A:G | C249R | 0.999 |
| 2:112231936:A:T | C249S | 0.999 |
| 2:112233275:A:G | C240R | 0.999 |
| 2:112233291:A:C | C234W | 0.999 |
| 2:112233292:C:G | C234S | 0.999 |
| 2:112233292:C:T | C234Y | 0.999 |
| 2:112233293:A:G | C234R | 0.999 |
| 2:112233293:A:T | C234S | 0.999 |
| 2:112233309:A:C | F228L | 0.999 |
| 2:112233309:A:T | F228L | 0.999 |
| 2:112233311:A:G | F228L | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000029067 (2:112214182 A>G), RS1000213601 (2:112230368 T>C), RS1000225168 (2:112243963 T>C), RS1000278159 (2:112251435 A>G), RS1000304748 (2:112237037 G>A), RS1000325434 (2:112246717 G>T), RS1000339991 (2:112216163 A>G), RS1000343936 (2:112223840 T>TAATC), RS1000461246 (2:112245898 C>A,T), RS1000462440 (2:112216636 A>G), RS1000501391 (2:112232489 TTATAA>T), RS1000565640 (2:112230635 T>C), RS1000607336 (2:112225310 G>A), RS1000614092 (2:112252928 G>A), RS1000788182 (2:112218677 CAT>C)
Disease associations
OMIM: gene MIM:621273 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cyclosporine | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| trichostatin A | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| K 7174 | increases expression | 1 |
| MT19c compound | increases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Cisplatin | increases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Nickel | increases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | decreases expression | 1 |
| Sodium Dodecyl Sulfate | decreases expression | 1 |
| T-2 Toxin | increases expression | 1 |
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.