ZNF830
gene geneOn this page
Also known as MGC20398OMCG1
Summary
ZNF830 (zinc finger protein 830, HGNC:28291) is a protein-coding gene on chromosome 17q12, encoding Zinc finger protein 830 (Q96NB3). May play a role in pre-mRNA splicing as component of the spliceosome. It is a common-essential gene (DepMap: required in 99.4% of cancer cell lines).
Predicted to enable nucleic acid binding activity and zinc ion binding activity. Predicted to be involved in several processes, including mitotic DNA integrity checkpoint signaling; nuclear DNA replication; and preantral ovarian follicle growth. Predicted to act upstream of or within several processes, including blastocyst growth; chromosome organization; and intestinal epithelial structure maintenance. Predicted to be located in nucleoplasm. Predicted to be part of spliceosomal complex. Predicted to be active in nucleus.
Source: NCBI Gene 91603 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 39 total
- Cancer dependency (DepMap): dependent in 99.4% of screened cell lines (common-essential)
- MANE Select transcript:
NM_052857
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28291 |
| Approved symbol | ZNF830 |
| Name | zinc finger protein 830 |
| Location | 17q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC20398, OMCG1 |
| Ensembl gene | ENSG00000198783 |
| Ensembl biotype | protein_coding |
| Entrez | 91603 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 1 protein_coding, 1 nonsense_mediated_decay
ENST00000361952, ENST00000578339
RefSeq mRNA: 1 — MANE Select: NM_052857
NM_052857
CCDS: CCDS32618
Canonical transcript exons
ENST00000361952 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001106040 | 34961540 | 34963777 |
Expression profiles
Bgee: expression breadth ubiquitous, 255 present calls, max score 95.81.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.1583 / max 139.9218, expressed in 1727 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 160324 | 7.1583 | 1727 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tendon of biceps brachii | UBERON:0008188 | 95.81 | gold quality |
| kidney epithelium | UBERON:0004819 | 94.02 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 93.75 | gold quality |
| upper arm skin | UBERON:0004263 | 92.76 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 92.70 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 92.59 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 92.43 | gold quality |
| parotid gland | UBERON:0001831 | 91.83 | gold quality |
| thymus | UBERON:0002370 | 91.82 | gold quality |
| medial globus pallidus | UBERON:0002477 | 91.06 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 90.69 | gold quality |
| tendon | UBERON:0000043 | 90.58 | gold quality |
| pylorus | UBERON:0001166 | 89.88 | gold quality |
| globus pallidus | UBERON:0001875 | 89.77 | gold quality |
| cerebellar vermis | UBERON:0004720 | 89.65 | gold quality |
| cardia of stomach | UBERON:0001162 | 89.30 | gold quality |
| amniotic fluid | UBERON:0000173 | 88.77 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 88.75 | gold quality |
| tibialis anterior | UBERON:0001385 | 88.64 | gold quality |
| pericardium | UBERON:0002407 | 88.64 | gold quality |
| calcaneal tendon | UBERON:0003701 | 88.60 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 88.25 | gold quality |
| mammalian vulva | UBERON:0000997 | 87.87 | gold quality |
| urethra | UBERON:0000057 | 87.79 | gold quality |
| decidua | UBERON:0002450 | 87.76 | gold quality |
| deltoid | UBERON:0001476 | 87.74 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 87.67 | gold quality |
| ileal mucosa | UBERON:0000331 | 87.60 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 87.13 | gold quality |
| granulocyte | CL:0000094 | 87.07 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.78 |
| E-GEOD-110499 | no | 397.63 |
| E-CURD-10 | no | 246.14 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
41 targeting ZNF830, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-383-3P | 99.85 | 65.84 | 1359 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-4766-5P | 99.75 | 69.23 | 2662 |
| HSA-MIR-4255 | 99.72 | 67.70 | 1541 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-1179 | 99.71 | 68.70 | 1040 |
| HSA-MIR-5093 | 99.67 | 69.26 | 2291 |
| HSA-MIR-3616-5P | 99.55 | 67.02 | 989 |
| HSA-MIR-573 | 99.55 | 67.44 | 955 |
| HSA-MIR-5683 | 99.36 | 68.59 | 2083 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.4% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 1)
- ZNF830 mediates cancer chemoresistance through promoting homologous recombination repair. (PMID:29244158)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Zfp830 | ENSMUSG00000046010 |
| rattus_norvegicus | Zfp830 | ENSRNOG00000073735 |
| drosophila_melanogaster | CG11839 | FBGN0039271 |
| caenorhabditis_elegans | WBGENE00011411 |
Protein
Protein identifiers
Zinc finger protein 830 — Q96NB3 (reviewed: Q96NB3)
Alternative names: Coiled-coil domain-containing protein 16
All UniProt accessions (2): Q96NB3, J3QQQ3
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in pre-mRNA splicing as component of the spliceosome. Acts as an important regulator of the cell cycle that participates in the maintenance of genome integrity. During cell cycle progression in embryonic fibroblast, prevents replication fork collapse, double-strand break formation and cell cycle checkpoint activation. Controls mitotic cell cycle progression and cell survival in rapidly proliferating intestinal epithelium and embryonic stem cells. During the embryo preimplantation, controls different aspects of M phase. During early oocyte growth, plays a role in oocyte survival by preventing chromosomal breaks formation, activation of TP63 and reduction of transcription.
Subunit / interactions. Component of the XAB2 complex, a multimeric protein complex composed of XAB2, PRPF19, AQR, ZNF830, ISY1, and PPIE; this complex binds preferentially to RNA. Interacts with XAB2. Identified in a pentameric intron-binding (IB) complex composed of AQR, XAB2, ISY1, ZNF830 and PPIE that is incorporated into the spliceosome as a preassembled complex. The IB complex does not contain PRPF19.
Subcellular location. Nucleus. Chromosome. Nucleus speckle.
Post-translational modifications. Phosphorylated in response to DNA damage by the cell cycle checkpoint kinases ATR/ATM.
RefSeq proteins (1): NP_443089* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003604 | Matrin/U1-like-C_Znf_C2H2 | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR040050 | ZNF830-like | Family |
| IPR059039 | ZNF380_CC | Domain |
Pfam: PF12874, PF23406
UniProt features (19 total): sequence variant 5, modified residue 4, compositionally biased region 4, region of interest 2, initiator methionine 1, chain 1, zinc finger region 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96NB3-F1 | 66.50 | 0.19 |
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): 2, 225, 351, 362
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-6781823 | Formation of TC-NER Pre-Incision Complex |
| R-HSA-6781827 | Transcription-Coupled Nucleotide Excision Repair (TC-NER) |
| R-HSA-6782135 | Dual incision in TC-NER |
| R-HSA-6782210 | Gap-filling DNA repair synthesis and ligation in TC-NER |
| R-HSA-72163 | mRNA Splicing - Major Pathway |
MSigDB gene sets: 155 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, GOBP_CELL_CYCLE_DNA_REPLICATION, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_GROWTH, GOBP_OOGENESIS, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, GOBP_MITOTIC_G2_M_TRANSITION_CHECKPOINT, GOBP_REGULATION_OF_CELL_CYCLE_G2_M_PHASE_TRANSITION, GOBP_OVARIAN_FOLLICLE_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_REPRODUCTIVE_SYSTEM_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE
GO Biological Process (14): ovarian follicle development (GO:0001541), preantral ovarian follicle growth (GO:0001546), blastocyst growth (GO:0001832), RNA processing (GO:0006396), mRNA processing (GO:0006397), RNA splicing (GO:0008380), nuclear DNA replication (GO:0033260), mitotic DNA replication checkpoint signaling (GO:0033314), negative regulation of apoptotic process (GO:0043066), mitotic DNA damage checkpoint signaling (GO:0044773), chromosome organization (GO:0051276), cell division (GO:0051301), intestinal epithelial structure maintenance (GO:0060729), mitotic cell cycle (GO:0000278)
GO Molecular Function (4): nucleic acid binding (GO:0003676), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681), chromosome (GO:0005694), nuclear speck (GO:0016607)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Transcription-Coupled Nucleotide Excision Repair (TC-NER) | 3 |
| Nucleotide Excision Repair | 1 |
| mRNA Splicing | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| developmental growth | 2 |
| RNA processing | 2 |
| cell cycle | 2 |
| mitotic cell cycle | 2 |
| mitotic DNA integrity checkpoint signaling | 2 |
| binding | 2 |
| female gonad development | 1 |
| anatomical structure development | 1 |
| ovarian follicle development | 1 |
| ovulation cycle process | 1 |
| multi-layer follicle stage | 1 |
| blastocyst development | 1 |
| gene expression | 1 |
| RNA biosynthetic process | 1 |
| primary metabolic process | 1 |
| mRNA metabolic process | 1 |
| nucleus | 1 |
| cell cycle DNA replication | 1 |
| DNA replication checkpoint signaling | 1 |
| mitotic G2/M transition checkpoint | 1 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| negative regulation of programmed cell death | 1 |
| DNA damage checkpoint signaling | 1 |
| organelle organization | 1 |
| cellular process | 1 |
| maintenance of gastrointestinal epithelium | 1 |
| mitotic nuclear division | 1 |
| transition metal ion binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| nuclear protein-containing complex | 1 |
| ribonucleoprotein complex | 1 |
| intracellular membraneless organelle | 1 |
| nuclear ribonucleoprotein granule | 1 |
Protein interactions and networks
STRING
704 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF830 | PPIE | Q9UNP9 | 926 |
| ZNF830 | PRPF19 | Q9UMS4 | 874 |
| ZNF830 | CRNKL1 | Q9BZJ0 | 792 |
| ZNF830 | XAB2 | Q9HCS7 | 785 |
| ZNF830 | AQR | O60306 | 753 |
| ZNF830 | PRCC | Q92733 | 696 |
| ZNF830 | KANSL2 | Q9H9L4 | 665 |
| ZNF830 | PIM2 | Q9P1W9 | 646 |
| ZNF830 | CDC5L | Q99459 | 593 |
| ZNF830 | SNW1 | Q13573 | 498 |
| ZNF830 | RBBP8 | Q99708 | 494 |
| ZNF830 | ZNF281 | Q9Y2X9 | 478 |
| ZNF830 | ASCC2 | Q9H1I8 | 474 |
| ZNF830 | CFAP221 | Q4G0U5 | 471 |
| ZNF830 | FKBP6 | O75344 | 465 |
IntAct
69 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BCL2L1 | BCL2L11 | psi-mi:“MI:0914”(association) | 0.870 |
| CDK8 | MED19 | psi-mi:“MI:2364”(proximity) | 0.850 |
| PPIE | AQR | psi-mi:“MI:0914”(association) | 0.810 |
| PRPF19 | PLRG1 | psi-mi:“MI:0914”(association) | 0.770 |
| AQR | ZNF830 | psi-mi:“MI:0407”(direct interaction) | 0.760 |
| AQR | ZNF830 | psi-mi:“MI:0915”(physical association) | 0.760 |
| AQR | ZNF830 | psi-mi:“MI:0914”(association) | 0.760 |
| ISY1 | AQR | psi-mi:“MI:0914”(association) | 0.740 |
| SNW1 | AQR | psi-mi:“MI:0914”(association) | 0.650 |
| SNW1 | ZNF830 | psi-mi:“MI:0915”(physical association) | 0.630 |
| ZNF830 | PPIL2 | psi-mi:“MI:0915”(physical association) | 0.630 |
| ZNF830 | SNW1 | psi-mi:“MI:0915”(physical association) | 0.630 |
| PPIL2 | ZNF830 | psi-mi:“MI:0915”(physical association) | 0.630 |
| APPL1 | ZNF830 | psi-mi:“MI:0915”(physical association) | 0.590 |
| SESTD1 | ZNF830 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SNRPE | PRMT5 | psi-mi:“MI:0914”(association) | 0.530 |
| PRPF19 | STRN | psi-mi:“MI:0914”(association) | 0.530 |
| SNRPE | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.530 |
| PRPF8 | ZNF830 | psi-mi:“MI:0915”(physical association) | 0.510 |
BioGRID (131): ZNF830 (Affinity Capture-MS), ZNF830 (Co-fractionation), ZNF830 (Co-fractionation), ZNF830 (Co-fractionation), ZNF830 (Affinity Capture-MS), ZNF830 (Affinity Capture-MS), AQR (Affinity Capture-MS), XAB2 (Affinity Capture-MS), ISY1 (Affinity Capture-MS), PPIE (Affinity Capture-MS), PPIL2 (Affinity Capture-MS), ZNF830 (Affinity Capture-MS), ZNF830 (Affinity Capture-MS), ZNF830 (Affinity Capture-MS), ZNF830 (Affinity Capture-MS)
ESM2 similar proteins: A4PB26, D3ZTQ1, G1SW77, O16053, O88271, Q12872, Q32LE2, Q3MHS2, Q3U155, Q3USH5, Q4ADK4, Q4ADK7, Q4VAA2, Q5M8L3, Q5PQP2, Q5PQS7, Q5RKH3, Q5VSY0, Q5XHI2, Q5XIG5, Q5XIM5, Q5ZLH9, Q60FC2, Q63ZM9, Q6AXS5, Q6DIS2, Q6DJ13, Q6GNQ4, Q6NWC9, Q6PFK1, Q75UQ2, Q7T370, Q7ZYA6, Q8HXY9, Q8K039, Q8MMC4, Q8NC51, Q8R1N0, Q92733, Q96NB3
Diamond homologs: Q3MHS2, Q63ZM9, Q6DJ13, Q6P0I6, Q8R1N0, Q96NB3, Q9M8S7
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 55 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 |
|---|---|---|---|
| mRNA Splicing - Minor Pathway | 6 | 29.9× | 1e-06 |
| mRNA Splicing - Major Pathway | 21 | 25.5× | 8e-23 |
| mRNA Splicing | 10 | 24.4× | 4e-10 |
| Processing of Capped Intron-Containing Pre-mRNA | 13 | 23.7× | 4e-13 |
| mRNA Polyadenylation | 10 | 19.5× | 3e-09 |
| CHD1 and CHD2 subfamily | 8 | 19.3× | 3e-07 |
| Dengue Virus-Host Interactions | 18 | 18.3× | 1e-16 |
| Metabolism of RNA | 12 | 11.1× | 2e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| U2-type prespliceosome assembly | 6 | 76.4× | 2e-08 |
| mRNA splicing, via spliceosome | 22 | 41.1× | 3e-28 |
| RNA splicing | 7 | 12.6× | 1e-04 |
| mRNA processing | 7 | 11.2× | 2e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
39 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 38 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
51 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:34962599:G:GT | donor_gain | 0.8800 |
| 17:34962629:G:GT | donor_gain | 0.7200 |
| 17:34962641:G:GT | donor_gain | 0.7000 |
| 17:34962656:G:GT | donor_gain | 0.5300 |
| 17:34962211:CAAGG:C | acceptor_gain | 0.5100 |
| 17:34962666:TGA:T | donor_gain | 0.4400 |
| 17:34962210:CCAAG:C | acceptor_gain | 0.4300 |
| 17:34962632:G:T | donor_gain | 0.4300 |
| 17:34962212:AAGGC:A | acceptor_gain | 0.4100 |
| 17:34961938:AC:A | donor_gain | 0.3800 |
| 17:34962133:C:T | donor_gain | 0.3800 |
| 17:34962209:CCCAA:C | acceptor_gain | 0.3800 |
| 17:34962161:G:GT | donor_gain | 0.3600 |
| 17:34962204:ATCCT:A | acceptor_gain | 0.3500 |
| 17:34962213:AGG:A | acceptor_gain | 0.3500 |
| 17:34962624:A:G | donor_gain | 0.3400 |
| 17:34962161:G:T | donor_gain | 0.3200 |
| 17:34962208:TCCCA:T | acceptor_gain | 0.3200 |
| 17:34962632:G:GT | donor_gain | 0.3100 |
| 17:34961983:A:T | donor_gain | 0.3000 |
| 17:34962205:TCCTC:T | acceptor_gain | 0.3000 |
| 17:34962206:CCTCC:C | acceptor_gain | 0.3000 |
| 17:34962207:CTCCC:C | acceptor_gain | 0.3000 |
| 17:34962668:A:AG | donor_gain | 0.2700 |
| 17:34961931:CTCAG:C | donor_loss | 0.2600 |
| 17:34961932:TCAG:T | donor_loss | 0.2600 |
| 17:34961933:CAGGT:C | donor_loss | 0.2600 |
| 17:34961934:AG:A | donor_loss | 0.2600 |
| 17:34961935:GGT:G | donor_loss | 0.2600 |
| 17:34961936:GTACA:G | donor_loss | 0.2600 |
AlphaMissense
2445 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:34962314:T:C | F250L | 1.000 |
| 17:34962316:T:A | F250L | 1.000 |
| 17:34962316:T:G | F250L | 1.000 |
| 17:34962395:T:C | F277L | 1.000 |
| 17:34962396:T:C | F277S | 1.000 |
| 17:34962397:C:A | F277L | 1.000 |
| 17:34962397:C:G | F277L | 1.000 |
| 17:34962498:A:C | Q311P | 1.000 |
| 17:34962661:G:C | W365C | 1.000 |
| 17:34962661:G:T | W365C | 1.000 |
| 17:34961723:T:C | C53R | 0.999 |
| 17:34961745:T:A | V60D | 0.999 |
| 17:34961762:T:A | W66R | 0.999 |
| 17:34961762:T:C | W66R | 0.999 |
| 17:34961764:G:C | W66C | 0.999 |
| 17:34961764:G:T | W66C | 0.999 |
| 17:34962303:T:C | L246S | 0.999 |
| 17:34962315:T:C | F250S | 0.999 |
| 17:34962317:T:C | F251L | 0.999 |
| 17:34962318:T:G | F251C | 0.999 |
| 17:34962319:T:A | F251L | 0.999 |
| 17:34962319:T:G | F251L | 0.999 |
| 17:34962386:T:A | W274R | 0.999 |
| 17:34962386:T:C | W274R | 0.999 |
| 17:34962388:G:C | W274C | 0.999 |
| 17:34962388:G:T | W274C | 0.999 |
| 17:34962396:T:G | F277C | 0.999 |
| 17:34962404:G:C | A280P | 0.999 |
| 17:34962434:G:C | A290P | 0.999 |
| 17:34962443:G:C | A293P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1001361386 (17:34963770 T>C), RS1002989528 (17:34962284 G>A), RS1003114732 (17:34962842 G>A,T), RS1003321442 (17:34961173 C>A,T), RS1003378809 (17:34960984 C>G), RS1005432992 (17:34961452 C>G,T), RS1005539603 (17:34963444 T>C), RS1005801525 (17:34961510 G>A,T), RS1007066420 (17:34960348 C>A,T), RS1007163112 (17:34959939 A>C), RS1007521674 (17:34960161 C>A,T), RS1008948409 (17:34963078 T>C), RS1009877886 (17:34964053 C>T), RS1010059103 (17:34963160 A>G), RS1011345508 (17:34961926 G>C,T)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003542_132 | Night sleep phenotypes | 2.000000e-07 |
| GCST003542_133 | Night sleep phenotypes | 4.000000e-07 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| potassium chromate(VI) | increases expression, affects cotreatment | 1 |
| beta-methylcholine | affects expression | 1 |
| epigallocatechin gallate | affects cotreatment, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Benzo(a)pyrene | decreases methylation, increases methylation | 1 |
| Doxorubicin | decreases phosphorylation, affects phosphorylation, affects response to substance | 1 |
| Manganese | increases abundance, increases expression, affects cotreatment | 1 |
| Potassium Dichromate | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Urethane | decreases expression | 1 |
| Vincristine | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Vitamin K 3 | affects 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.