ZNF622
gene geneOn this page
Also known as MGC2485MGC17552ZPR9
Summary
ZNF622 (zinc finger protein 622, HGNC:30958) is a protein-coding gene on chromosome 5p15.1, encoding Cytoplasmic 60S subunit biogenesis factor ZNF622 (Q969S3). Pre-60S-associated cytoplasmic factor involved in the cytoplasmic maturation of the 60S subunit. It is a selective cancer dependency (DepMap: 14.9% of cell lines).
Enables preribosome binding activity. Involved in several processes, including intrinsic apoptotic signaling pathway in response to oxidative stress; positive regulation of JNK cascade; and positive regulation of kinase activity. Located in Golgi apparatus; cytosol; and nuclear lumen.
Source: NCBI Gene 90441 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 77 total
- Cancer dependency (DepMap): dependent in 14.9% of screened cell lines
- MANE Select transcript:
NM_033414
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30958 |
| Approved symbol | ZNF622 |
| Name | zinc finger protein 622 |
| Location | 5p15.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC2485, MGC17552, ZPR9 |
| Ensembl gene | ENSG00000173545 |
| Ensembl biotype | protein_coding |
| OMIM | 608694 |
| Entrez | 90441 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 6 protein_coding
ENST00000308683, ENST00000933612, ENST00000933613, ENST00000933614, ENST00000933615, ENST00000933616
RefSeq mRNA: 1 — MANE Select: NM_033414
NM_033414
CCDS: CCDS3886
Canonical transcript exons
ENST00000308683 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001208506 | 16453013 | 16453156 |
| ENSE00001208510 | 16458517 | 16458629 |
| ENSE00001208517 | 16463108 | 16463270 |
| ENSE00001208521 | 16463482 | 16463742 |
| ENSE00001208523 | 16451519 | 16451784 |
| ENSE00001208528 | 16465041 | 16465800 |
Expression profiles
Bgee: expression breadth ubiquitous, 257 present calls, max score 98.53.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 31.8767 / max 251.8593, expressed in 1822 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 60998 | 20.6565 | 1814 |
| 60997 | 11.2201 | 1799 |
Top tissues by expression
258 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left ventricle myocardium | UBERON:0006566 | 98.53 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 97.13 | gold quality |
| myocardium | UBERON:0002349 | 96.69 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 94.84 | gold quality |
| amniotic fluid | UBERON:0000173 | 94.63 | gold quality |
| kidney epithelium | UBERON:0004819 | 94.54 | gold quality |
| heart right ventricle | UBERON:0002080 | 94.45 | gold quality |
| apex of heart | UBERON:0002098 | 94.39 | gold quality |
| heart left ventricle | UBERON:0002084 | 93.85 | gold quality |
| cardiac ventricle | UBERON:0002082 | 93.77 | gold quality |
| body of pancreas | UBERON:0001150 | 93.71 | gold quality |
| pancreas | UBERON:0001264 | 92.22 | gold quality |
| upper arm skin | UBERON:0004263 | 92.16 | gold quality |
| heart | UBERON:0000948 | 91.71 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 91.08 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 91.01 | gold quality |
| gastrocnemius | UBERON:0001388 | 90.92 | gold quality |
| colonic mucosa | UBERON:0000317 | 90.84 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 90.75 | gold quality |
| islet of Langerhans | UBERON:0000006 | 90.67 | gold quality |
| cardiac atrium | UBERON:0002081 | 90.60 | gold quality |
| medial globus pallidus | UBERON:0002477 | 90.45 | gold quality |
| right atrium auricular region | UBERON:0006631 | 90.40 | gold quality |
| muscle of leg | UBERON:0001383 | 90.32 | gold quality |
| endothelial cell | CL:0000115 | 90.23 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 90.10 | gold quality |
| tendon | UBERON:0000043 | 89.92 | gold quality |
| cartilage tissue | UBERON:0002418 | 89.92 | gold quality |
| parotid gland | UBERON:0001831 | 89.85 | gold quality |
| globus pallidus | UBERON:0001875 | 89.68 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7052 | yes | 683.01 |
| E-GEOD-100618 | yes | 257.78 |
| E-MTAB-6386 | no | 192.63 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MYBL2
miRNA regulators (miRDB)
25 targeting ZNF622, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-10393-3P | 99.72 | 66.56 | 961 |
| HSA-MIR-6801-5P | 99.72 | 66.50 | 981 |
| HSA-MIR-646 | 99.68 | 67.84 | 1645 |
| HSA-MIR-4524A-5P | 99.57 | 71.73 | 1193 |
| HSA-MIR-4524B-5P | 99.57 | 71.68 | 1195 |
| HSA-MIR-182-3P | 99.57 | 67.57 | 825 |
| HSA-MIR-766-5P | 99.47 | 67.91 | 2225 |
| HSA-MIR-6830-3P | 98.62 | 68.07 | 1760 |
| HSA-MIR-4768-3P | 98.16 | 66.02 | 2330 |
| HSA-MIR-12126 | 98.09 | 64.82 | 637 |
| HSA-MIR-503-5P | 97.87 | 66.83 | 575 |
| HSA-MIR-562 | 97.66 | 65.63 | 698 |
| HSA-MIR-597-3P | 96.46 | 68.03 | 1035 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 14.9% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 3)
- ZPR9 plays an important role in modulation of the transactivation by B-MYB and cellular growth of neuroblastoma cells (PMID:12645566)
- ZPR9 was found to physically interact with ASK1 through a disulfide linkage;ZPR9 functions as a novel positive regulator of ASK1. (PMID:21771788)
- Results from a study on gene expression variability markers in early-stage human embryos shows that ZNF622 is a putative expression variability marker for the 3-day, 8-cell embryo stage. (PMID:26288249)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | znf622 | ENSDARG00000014692 |
| mus_musculus | Zfp622 | ENSMUSG00000052253 |
| rattus_norvegicus | Zfp622l1 | ENSRNOG00000010589 |
| rattus_norvegicus | ENSRNOG00000065109 | |
| drosophila_melanogaster | CG6769 | FBGN0030878 |
| caenorhabditis_elegans | WBGENE00015809 |
Protein
Protein identifiers
Cytoplasmic 60S subunit biogenesis factor ZNF622 — Q969S3 (reviewed: Q969S3)
Alternative names: Zinc finger protein 622, Zinc finger-like protein 9
All UniProt accessions (1): Q969S3
UniProt curated annotations — full annotation on UniProt →
Function. Pre-60S-associated cytoplasmic factor involved in the cytoplasmic maturation of the 60S subunit.
Subunit / interactions. Homo- and heterodimer. Associates with pre-60S ribosomal particles. Interacts with MELK and MYBL2. Interacts with DNAJC21.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Expressed in lung, kidney, spleen, liver and brain with lowest expression in kidney.
Post-translational modifications. Phosphorylated by MELK. The phosphorylation may redirect the protein to the nucleus. Ubiquitinated by HECTD1, leading to its degradation.
Similarity. Belongs to the REI1 family.
RefSeq proteins (1): NP_219482* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003604 | Matrin/U1-like-C_Znf_C2H2 | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR022755 | Znf_C2H2_jaz | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR040025 | Znf622/Rei1/Reh1 | Family |
| IPR041661 | ZN622/Rei1/Reh1_Znf-C2H2 | Domain |
Pfam: PF12171, PF12756
UniProt features (9 total): zinc finger region 2, compositionally biased region 2, modified residue 2, initiator methionine 1, chain 1, region of interest 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9GMO | ELECTRON MICROSCOPY | 2.59 |
| 6LQM | ELECTRON MICROSCOPY | 3.09 |
| 6LSR | ELECTRON MICROSCOPY | 3.13 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q969S3-F1 | 73.05 | 0.27 |
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 (2): 2, 276
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 131 (showing top):
SHEPARD_BMYB_MORPHOLINO_UP, GOBP_RIBOSOME_BIOGENESIS, GOBP_REGULATION_OF_PHOSPHORYLATION, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, GOBP_REGULATION_OF_TRANSFERASE_ACTIVITY, GOBP_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, GOBP_APOPTOTIC_SIGNALING_PATHWAY, WANG_LMO4_TARGETS_DN, GOBP_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS, GOBP_JNK_CASCADE, MARTIN_VIRAL_GPCR_SIGNALING_DN
GO Biological Process (7): intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631), positive regulation of kinase activity (GO:0033674), ribosomal large subunit biogenesis (GO:0042273), positive regulation of apoptotic process (GO:0043065), positive regulation of MAPK cascade (GO:0043410), positive regulation of JNK cascade (GO:0046330), ribosome biogenesis (GO:0042254)
GO Molecular Function (6): RNA binding (GO:0003723), zinc ion binding (GO:0008270), preribosome binding (GO:1990275), nucleic acid binding (GO:0003676), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (7): nucleoplasm (GO:0005654), nucleolus (GO:0005730), Golgi apparatus (GO:0005794), cytosol (GO:0005829), preribosome, large subunit precursor (GO:0030687), nucleus (GO:0005634), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| ribonucleoprotein complex biogenesis | 2 |
| binding | 2 |
| nuclear lumen | 2 |
| cytoplasm | 2 |
| intracellular membrane-bounded organelle | 2 |
| intrinsic apoptotic signaling pathway | 1 |
| kinase activity | 1 |
| positive regulation of phosphorylation | 1 |
| positive regulation of catalytic activity | 1 |
| regulation of kinase activity | 1 |
| ribosome biogenesis | 1 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| positive regulation of programmed cell death | 1 |
| MAPK cascade | 1 |
| regulation of MAPK cascade | 1 |
| positive regulation of intracellular signal transduction | 1 |
| JNK cascade | 1 |
| positive regulation of MAPK cascade | 1 |
| regulation of JNK cascade | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| ribonucleoprotein complex binding | 1 |
| cation binding | 1 |
| intracellular membraneless organelle | 1 |
| endomembrane system | 1 |
| preribosome | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1812 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF622 | MELK | Q14680 | 958 |
| ZNF622 | MYBL2 | P10244 | 914 |
| ZNF622 | PA2G4 | Q9UQ80 | 641 |
| ZNF622 | RSL24D1 | Q9UHA3 | 487 |
| ZNF622 | ZNF593 | O00488 | 483 |
| ZNF622 | NMD3 | Q96D46 | 478 |
| ZNF622 | LSG1 | Q9H089 | 473 |
| ZNF622 | CRLS1 | Q9UJA2 | 468 |
| ZNF622 | MRTO4 | Q9UKD2 | 468 |
| ZNF622 | HSPA8 | P11142 | 449 |
| ZNF622 | EIF6 | P56537 | 449 |
| ZNF622 | DNAJC21 | Q5F1R6 | 449 |
| ZNF622 | SAFB2 | Q14151 | 445 |
| ZNF622 | TXN | P10599 | 439 |
| ZNF622 | LY6H | O94772 | 438 |
IntAct
110 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MAP3K5 | MAP2K3 | psi-mi:“MI:0914”(association) | 0.760 |
| MAP3K5 | YWHAB | psi-mi:“MI:0914”(association) | 0.720 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| MAP3K5 | TXN | psi-mi:“MI:0914”(association) | 0.680 |
| MAP3K5 | ZNF622 | psi-mi:“MI:0915”(physical association) | 0.660 |
| ZNF622 | MAP3K5 | psi-mi:“MI:0915”(physical association) | 0.660 |
| MAP3K5 | ZNF622 | psi-mi:“MI:0407”(direct interaction) | 0.660 |
| ZNF622 | MAP3K5 | psi-mi:“MI:0407”(direct interaction) | 0.660 |
| ZNF622 | MAP3K5 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.660 |
| YAF2 | E2F6 | psi-mi:“MI:0914”(association) | 0.640 |
| PRPF31 | PRPF4 | psi-mi:“MI:0914”(association) | 0.640 |
| BEND7 | ZNF622 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MACROH2A1 | ZNF622 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CAVIN1 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| EZR | BCR | psi-mi:“MI:0914”(association) | 0.480 |
| ZNF622 | Dlg4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| HMGB2 | ZNF622 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF622 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (176): MRTO4 (Co-fractionation), ZNF622 (Co-fractionation), ZNF622 (Reconstituted Complex), ZNF622 (Proximity Label-MS), ZNF622 (Proximity Label-MS), ZNF622 (Proximity Label-MS), ZNF622 (Proximity Label-MS), ZNF622 (Affinity Capture-MS), ZNF622 (Affinity Capture-MS), ZNF622 (Affinity Capture-MS), ZNF622 (Affinity Capture-MS), ZNF622 (Affinity Capture-MS), ZNF622 (Affinity Capture-MS), ZNF622 (Affinity Capture-MS), ZNF622 (Affinity Capture-MS)
ESM2 similar proteins: A1CFJ6, A1CYJ1, A2QGZ1, A3LU29, A4R9U5, A5DFT1, A5DYR5, A6RC73, A6RNR4, A6RVU0, A6SK81, A6ZQU8, A7E664, A7EGB5, A7EPT0, A7TP28, B8MSM6, C5P263, P0CP24, P0CP25, P0CS78, P0CS79, P40007, Q0CDP3, Q0UBQ5, Q1DLJ4, Q1EBC4, Q4IPB3, Q4PII9, Q4SQ06, Q4W9V0, Q4WIK9, Q4WNY4, Q59YD8, Q5AVK6, Q5AWM5, Q5B4T5, Q5BEG5, Q6BWR0, Q6CE60
Diamond homologs: G0S920, O59811, Q58CQ5, Q7TM96, Q80UU1, Q90Y35, Q91VY9, Q969S3, Q9H8Y5, Q9HET8, O74977, P38344, Q66H85, Q04311, Q06709, Q8H1G5, Q9ZQ18
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MAP3K5 | up-regulates | ZNF622 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 117 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 | 5 | 19.8× | 1e-04 |
| Cap-dependent Translation Initiation | 5 | 19.8× | 1e-04 |
| SARS-CoV-1 modulates host translation machinery | 5 | 19.8× | 1e-04 |
| Eukaryotic Translation Elongation | 5 | 17.9× | 2e-04 |
| Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S | 5 | 17.4× | 2e-04 |
| Influenza Viral RNA Transcription and Replication | 6 | 16.6× | 5e-05 |
| SARS-CoV-1-host interactions | 7 | 15.8× | 1e-05 |
| SRP-dependent cotranslational protein targeting to membrane | 12 | 15.4× | 7e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 10 | 18.7× | 1e-07 |
| regulation of alternative mRNA splicing, via spliceosome | 5 | 12.3× | 7e-03 |
| translation | 8 | 8.3× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
77 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 60 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
618 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:16453008:TGTAC:T | donor_loss | 1.0000 |
| 5:16453009:GTACC:G | donor_loss | 1.0000 |
| 5:16453010:TACCT:T | donor_loss | 1.0000 |
| 5:16453011:A:C | donor_loss | 1.0000 |
| 5:16453012:C:CT | donor_loss | 1.0000 |
| 5:16453154:CAC:C | acceptor_gain | 1.0000 |
| 5:16453157:C:CA | acceptor_loss | 1.0000 |
| 5:16453157:C:CC | acceptor_gain | 1.0000 |
| 5:16453158:T:A | acceptor_loss | 1.0000 |
| 5:16458510:CACTT:C | donor_loss | 1.0000 |
| 5:16458511:ACTTA:A | donor_loss | 1.0000 |
| 5:16458512:CTTAC:C | donor_loss | 1.0000 |
| 5:16458513:TTA:T | donor_loss | 1.0000 |
| 5:16458514:TACC:T | donor_loss | 1.0000 |
| 5:16458515:A:AC | donor_gain | 1.0000 |
| 5:16458515:ACCAG:A | donor_loss | 1.0000 |
| 5:16458516:C:CC | donor_gain | 1.0000 |
| 5:16458516:C:G | donor_loss | 1.0000 |
| 5:16458625:TACTC:T | acceptor_gain | 1.0000 |
| 5:16458627:CTC:C | acceptor_gain | 1.0000 |
| 5:16458629:CCTA:C | acceptor_loss | 1.0000 |
| 5:16458630:C:CC | acceptor_gain | 1.0000 |
| 5:16458630:CTAT:C | acceptor_loss | 1.0000 |
| 5:16463102:GCTTA:G | donor_loss | 1.0000 |
| 5:16463103:CTTAC:C | donor_loss | 1.0000 |
| 5:16463104:TTACC:T | donor_loss | 1.0000 |
| 5:16463105:TACC:T | donor_loss | 1.0000 |
| 5:16463106:A:AC | donor_gain | 1.0000 |
| 5:16463106:ACCTA:A | donor_loss | 1.0000 |
| 5:16463107:C:CC | donor_gain | 1.0000 |
AlphaMissense
3185 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:16463244:A:G | C305R | 0.998 |
| 5:16465525:G:C | F47L | 0.998 |
| 5:16465525:G:T | F47L | 0.998 |
| 5:16465526:A:G | F47S | 0.998 |
| 5:16465527:A:G | F47L | 0.998 |
| 5:16465571:A:G | L32P | 0.998 |
| 5:16465573:G:C | N31K | 0.998 |
| 5:16465573:G:T | N31K | 0.998 |
| 5:16465587:A:G | W27R | 0.998 |
| 5:16465587:A:T | W27R | 0.998 |
| 5:16465641:A:G | C9R | 0.998 |
| 5:16463187:G:C | H324D | 0.997 |
| 5:16463234:C:G | C308S | 0.997 |
| 5:16463235:A:T | C308S | 0.997 |
| 5:16463242:G:C | C305W | 0.997 |
| 5:16465640:C:T | C9Y | 0.997 |
| 5:16465650:A:G | C6R | 0.997 |
| 5:16463167:G:C | H330Q | 0.996 |
| 5:16463167:G:T | H330Q | 0.996 |
| 5:16463185:A:C | H324Q | 0.996 |
| 5:16463185:A:T | H324Q | 0.996 |
| 5:16463235:A:G | C308R | 0.996 |
| 5:16463243:C:T | C305Y | 0.996 |
| 5:16465565:C:G | R34P | 0.996 |
| 5:16465584:G:C | H28D | 0.996 |
| 5:16465585:C:A | W27C | 0.996 |
| 5:16465585:C:G | W27C | 0.996 |
| 5:16465639:G:C | C9W | 0.996 |
| 5:16465640:C:A | C9F | 0.996 |
| 5:16465648:G:C | C6W | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000081874 (5:16456032 G>A), RS1000254191 (5:16454157 A>G), RS1000909423 (5:16461826 G>C), RS1000950932 (5:16455011 A>T), RS1001085413 (5:16454765 T>C), RS1001167717 (5:16456751 G>A), RS1001305412 (5:16456510 A>C), RS1002077343 (5:16462268 A>C), RS1002165238 (5:16455290 G>A), RS1002281554 (5:16459952 G>A), RS1002314056 (5:16459516 T>C,G), RS1002797209 (5:16465349 A>C), RS1002840167 (5:16458657 T>C), RS1002988725 (5:16462869 C>A), RS1003107031 (5:16451970 C>T)
Disease associations
OMIM: gene MIM:608694 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003025_12 | Attention function in attention deficit hyperactive disorder | 3.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007636 | attention function measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases activity, increases expression | 3 |
| Valproic Acid | affects cotreatment, increases expression | 3 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| licochalcone B | increases expression | 1 |
| PCI 5002 | increases expression, affects cotreatment | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Copper | affects binding, decreases expression | 1 |
| Disulfiram | decreases expression, affects binding | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Phenobarbital | affects expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2LW | Abcam HeLa ZNF622 KO | Cancer cell line | Female |
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.