ZNF16
gene geneOn this page
Also known as KOX9
Summary
ZNF16 (zinc finger protein 16, HGNC:12947) is a protein-coding gene on chromosome 8q24.3, encoding Zinc finger protein 16 (P17020). Acts as a transcriptional activator.
The protein encoded by this gene contains multiple tandem zinc finger motifs. The encoded protein is involved in the differentiation of erythroid and megakaryocytic cells. This gene is located in a cluster of related genes on chromosome 8 encoding zinc finger proteins. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 7564 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 110 total
- MANE Select transcript:
NM_006958
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12947 |
| Approved symbol | ZNF16 |
| Name | zinc finger protein 16 |
| Location | 8q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KOX9 |
| Ensembl gene | ENSG00000170631 |
| Ensembl biotype | protein_coding |
| OMIM | 601262 |
| Entrez | 7564 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 9 protein_coding, 4 retained_intron
ENST00000276816, ENST00000394909, ENST00000527427, ENST00000527512, ENST00000527811, ENST00000529378, ENST00000532351, ENST00000532811, ENST00000611477, ENST00000871992, ENST00000871993, ENST00000871994, ENST00000957674
RefSeq mRNA: 6 — MANE Select: NM_006958
NM_001029976, NM_001413564, NM_001413565, NM_001413566, NM_001413567, NM_006958
CCDS: CCDS6437
Canonical transcript exons
ENST00000394909 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002160551 | 144930358 | 144932590 |
| ENSE00003564928 | 144946011 | 144946215 |
| ENSE00003850325 | 144950797 | 144950880 |
Expression profiles
Bgee: expression breadth ubiquitous, 229 present calls, max score 88.91.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.0189 / max 27.0525, expressed in 1607 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 95730 | 4.0189 | 1607 |
Top tissues by expression
270 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.91 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.07 | gold quality |
| oocyte | CL:0000023 | 80.91 | gold quality |
| ganglionic eminence | UBERON:0004023 | 79.68 | gold quality |
| gastrocnemius | UBERON:0001388 | 79.49 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 79.36 | gold quality |
| cortical plate | UBERON:0005343 | 79.22 | gold quality |
| muscle of leg | UBERON:0001383 | 79.16 | gold quality |
| secondary oocyte | CL:0000655 | 78.71 | gold quality |
| ventricular zone | UBERON:0003053 | 78.44 | gold quality |
| skin of leg | UBERON:0001511 | 78.30 | gold quality |
| gingival epithelium | UBERON:0001949 | 78.19 | gold quality |
| left ovary | UBERON:0002119 | 78.01 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 77.92 | gold quality |
| skin of abdomen | UBERON:0001416 | 77.90 | gold quality |
| stromal cell of endometrium | CL:0002255 | 77.74 | gold quality |
| body of pancreas | UBERON:0001150 | 77.55 | gold quality |
| popliteal artery | UBERON:0002250 | 77.53 | gold quality |
| tibial artery | UBERON:0007610 | 77.53 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 77.39 | gold quality |
| zone of skin | UBERON:0000014 | 77.34 | gold quality |
| ovary | UBERON:0000992 | 77.33 | gold quality |
| muscle organ | UBERON:0001630 | 77.32 | gold quality |
| pancreas | UBERON:0001264 | 77.27 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 77.22 | gold quality |
| gall bladder | UBERON:0002110 | 77.17 | gold quality |
| endothelial cell | CL:0000115 | 76.76 | silver quality |
| islet of Langerhans | UBERON:0000006 | 76.73 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 76.71 | gold quality |
| renal glomerulus | UBERON:0000074 | 76.53 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6911 | no | 72.20 |
| E-ANND-3 | no | 3.25 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets.
| Target | Regulation |
|---|---|
| CDKN2A | |
| KIT |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA1654.1 | ZNF16 | More than 3 adjacent zinc fingers |
| MA1654.2 | ZNF16 | More than 3 adjacent zinc fingers |
JASPAR matrix evidence (PMIDs): PMID:27852650
miRNA regulators (miRDB)
29 targeting ZNF16, 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-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-6715A-3P | 99.83 | 68.05 | 1473 |
| HSA-MIR-7154-5P | 99.69 | 70.52 | 1900 |
| HSA-MIR-5693 | 99.24 | 66.67 | 1106 |
| HSA-MIR-4528 | 99.18 | 69.77 | 1936 |
| HSA-MIR-499A-3P | 99.18 | 69.20 | 1392 |
| HSA-MIR-499B-3P | 99.18 | 69.27 | 1391 |
| HSA-MIR-371A-5P | 99.08 | 66.51 | 1914 |
| HSA-MIR-3926 | 98.95 | 69.26 | 1438 |
| HSA-MIR-606 | 98.72 | 67.34 | 960 |
| HSA-MIR-1537-5P | 98.70 | 68.33 | 999 |
| HSA-MIR-548S | 98.50 | 67.17 | 1213 |
| HSA-MIR-6867-3P | 98.12 | 66.07 | 1305 |
| HSA-MIR-618 | 97.62 | 67.46 | 861 |
| HSA-MIR-4287 | 97.55 | 67.24 | 1247 |
| HSA-MIR-4685-3P | 97.55 | 67.35 | 1255 |
| HSA-MIR-7108-5P | 96.42 | 66.17 | 598 |
| HSA-MIR-6806-5P | 96.37 | 68.74 | 587 |
| HSA-MIR-423-3P | 95.99 | 67.75 | 62 |
| HSA-MIR-571 | 95.38 | 66.54 | 671 |
Literature-anchored findings (GeneRIF, showing 3)
- study demonstrate that ZNF16 plays an important role in erythropoiesis and megakaryocytopoiesis via its regulation of the c-Kit/c-Raf/MEK/ERK/c-Jun/HEY1/GATA1 cascade (PMID:24180487)
- Exome sequencing identifies new somatic alterations and mutation patterns of tongue squamous cell carcinoma in a Chinese population. (PMID:32432340)
- Expression of FAM83H and ZNF16 are associated with shorter survival of patients with gallbladder carcinoma. (PMID:32460791)
Cross-species orthologs
0 orthologs
Paralogs (176): ZNF195 (ENSG00000005801), ZNF112 (ENSG00000062370), ZNF275 (ENSG00000063587), ZNF37A (ENSG00000075407), ZNF510 (ENSG00000081386), ZNF506 (ENSG00000081665), ZNF268 (ENSG00000090612), MZF1 (ENSG00000099326), ZNF629 (ENSG00000102870), ZNF175 (ENSG00000105497), ZNF85 (ENSG00000105750), ZFP30 (ENSG00000120784), ZNF45 (ENSG00000124459), ZNF391 (ENSG00000124613), ZNF436 (ENSG00000125945), ZNF484 (ENSG00000127081), ZNF835 (ENSG00000127903), ZNF780B (ENSG00000128000), ZSCAN10 (ENSG00000130182), ZNF317 (ENSG00000130803), ZNF331 (ENSG00000130844), ZNF227 (ENSG00000131115), ZNF141 (ENSG00000131127), ZNF132 (ENSG00000131849), ZNF189 (ENSG00000136870), ZIM3 (ENSG00000141946), ZFP14 (ENSG00000142065), ZNF514 (ENSG00000144026), ZNF300 (ENSG00000145908), RBAK (ENSG00000146587), ZNF157 (ENSG00000147117), ZNF182 (ENSG00000147118), ZNF41 (ENSG00000147124), ZNF7 (ENSG00000147789), ZNF117 (ENSG00000152926), ZNF221 (ENSG00000159905), ZNF235 (ENSG00000159917), ZNF714 (ENSG00000160352), ZNF577 (ENSG00000161551), ZNF12 (ENSG00000164631)
Protein
Protein identifiers
Zinc finger protein 16 — P17020 (reviewed: P17020)
Alternative names: Zinc finger protein KOX9
All UniProt accessions (3): P17020, E9PNT9, E9PQV1
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a transcriptional activator. Promotes cell proliferation by facilitating the cell cycle phase transition from the S to G2/M phase. Involved in both the hemin- and phorbol myristate acetate (PMA)-induced erythroid and megakaryocytic differentiation, respectively. Also plays a role as an inhibitor of cell apoptosis.
Subunit / interactions. Interacts with INCA1; the interaction inhibits INCA1 activity and induces the cell cycle process.
Subcellular location. Nucleus.
Tissue specificity. Ubiquitous.
Induction. Up-regulated by hemin during erythroid differentiation. Up-regulated by phorbol myristate acetate (PMA) during megakaryocytic differentiation. Up-regulated by the transcriptional activator MEF2A.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
RefSeq proteins (6): NP_001025147, NP_001400493, NP_001400494, NP_001400495, NP_001400496, NP_008889* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR050331 | Zinc_finger_PRDM4/PRDM1/PRDM14 | Family |
Pfam: PF00096
UniProt features (28 total): zinc finger region 17, region of interest 5, sequence variant 2, chain 1, compositionally biased region 1, modified residue 1, cross-link 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P17020-F1 | 69.30 | 0.13 |
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): 487, 253
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 109 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_ERYTHROCYTE_DIFFERENTIATION, GOBP_MYELOID_CELL_HOMEOSTASIS, MODULE_169, GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_ERYTHROCYTE_HOMEOSTASIS, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_REGULATION_OF_TRANSFERASE_ACTIVITY, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY, GOBP_REGULATION_OF_HEMOPOIESIS, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, GOBP_POSITIVE_REGULATION_OF_CELL_DIVISION, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION
GO Biological Process (12): regulation of transcription by RNA polymerase II (GO:0006357), positive regulation of cell population proliferation (GO:0008284), positive regulation of kinase activity (GO:0033674), negative regulation of apoptotic process (GO:0043066), positive regulation of erythrocyte differentiation (GO:0045648), positive regulation of megakaryocyte differentiation (GO:0045654), cell division (GO:0051301), positive regulation of cell division (GO:0051781), cellular response to sodium dodecyl sulfate (GO:0072707), positive regulation of cell cycle phase transition (GO:1901989), positive regulation of metabolic process (GO:0009893), regulation of multicellular organismal process (GO:0051239)
GO Molecular Function (6): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| positive regulation of cellular process | 3 |
| positive regulation of myeloid cell differentiation | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| nuclear lumen | 2 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| kinase activity | 1 |
| positive regulation of phosphorylation | 1 |
| positive regulation of catalytic activity | 1 |
| regulation of kinase activity | 1 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| negative regulation of programmed cell death | 1 |
| erythrocyte differentiation | 1 |
| regulation of erythrocyte differentiation | 1 |
| megakaryocyte differentiation | 1 |
| regulation of megakaryocyte differentiation | 1 |
| cellular process | 1 |
| cell division | 1 |
| regulation of cell division | 1 |
| response to sodium dodecyl sulfate | 1 |
| cellular response to oxygen-containing compound | 1 |
| cell cycle phase transition | 1 |
| positive regulation of cell cycle process | 1 |
| regulation of cell cycle phase transition | 1 |
| metabolic process | 1 |
| regulation of metabolic process | 1 |
| multicellular organismal process | 1 |
| regulation of biological process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transition metal ion binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
586 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF16 | NOX4 | Q9NPH5 | 767 |
| ZNF16 | ZPR1 | O75312 | 480 |
| ZNF16 | H1-10 | Q92522 | 461 |
| ZNF16 | INCA1 | Q0VD86 | 431 |
| ZNF16 | H1-1 | Q02539 | 421 |
| ZNF16 | C8orf33 | Q9H7E9 | 400 |
| ZNF16 | POP1 | Q99575 | 396 |
| ZNF16 | SACK1H | Q6ZRV2 | 380 |
| ZNF16 | ZHX1-C8orf76 | Q96EF9 | 375 |
| ZNF16 | ZBTB25 | P24278 | 374 |
| ZNF16 | TIGD5 | Q53EQ6 | 373 |
| ZNF16 | C8orf76 | Q96K31 | 370 |
| ZNF16 | LRRC14 | Q15048 | 350 |
| ZNF16 | COMMD5 | Q9GZQ3 | 322 |
| ZNF16 | MROH1 | Q8NDA8 | 311 |
IntAct
78 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NOP53 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| ZNF16 | ZNF101 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF101 | ZNF16 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF16 | AQP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF16 | FAIM | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF16 | ZBTB47 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF16 | ZCCHC17 | psi-mi:“MI:0915”(physical association) | 0.560 |
| H1-4 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| THAP3 | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| PPAN | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| H1-4 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| INCA1 | ZNF16 | psi-mi:“MI:0915”(physical association) | 0.510 |
| GORAB | ZNF16 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF16 | ACTA1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FHL1 | ZNF16 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF16 | DEFA1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF16 | ZXDC | psi-mi:“MI:0915”(physical association) | 0.370 |
| S100A8 | ZNF16 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PFN1 | ZNF16 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF16 | CEACAM8 | psi-mi:“MI:0915”(physical association) | 0.370 |
| COL1A1 | ZNF16 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF16 | COL1A2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF16 | ACSL6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FABP4 | ZNF16 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF16 | GMPS | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF16 | ATP5ME | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (40): ZNF101 (Two-hybrid), ZNF16 (Affinity Capture-MS), ZNF16 (Affinity Capture-MS), ZNF16 (Affinity Capture-MS), ZNF16 (Affinity Capture-MS), ZNF16 (Affinity Capture-MS), ZNF16 (Two-hybrid), ZNF16 (Two-hybrid), ZNF16 (Two-hybrid), AQP1 (Two-hybrid), ZNF16 (Affinity Capture-RNA), ZNF16 (Affinity Capture-MS), ZNF16 (Affinity Capture-MS), ZNF16 (Affinity Capture-MS), ZNF16 (Affinity Capture-MS)
ESM2 similar proteins: A0JNB1, A1YF12, A1YG88, A2T759, A6QLU5, B2RUI1, D3ZVT0, O14709, O43296, O75123, P10072, P15621, P17020, P17097, P51814, P85977, Q08ER8, Q0VGE8, Q14590, Q32KN0, Q3KQV3, Q4V8A8, Q5CZA5, Q5RBX0, Q5RCD9, Q5VIY5, Q61116, Q61967, Q6GQR8, Q6P9A3, Q6ZMS4, Q7TSH9, Q7TSI0, Q7Z3I7, Q86UD4, Q86WZ6, Q8BFS8, Q8IZ26, Q8N9F8, Q8TAF7
Diamond homologs: A1YF12, A1YG88, A2T759, P17020, Q96NJ6, Q1LZ87, Q8NF99
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 75 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 |
|---|---|---|---|
| Peptide chain elongation | 12 | 29.3× | 2e-12 |
| Viral mRNA Translation | 11 | 26.8× | 2e-11 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 11 | 26.6× | 2e-11 |
| Selenocysteine synthesis | 11 | 25.4× | 2e-11 |
| Eukaryotic Translation Termination | 11 | 25.4× | 2e-11 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 11 | 24.9× | 2e-11 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 11 | 24.9× | 2e-11 |
| Formation of a pool of free 40S subunits | 11 | 23.7× | 4e-11 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 12 | 30.4× | 2e-12 |
| translation | 12 | 16.9× | 1e-09 |
| ribosomal small subunit biogenesis | 5 | 15.6× | 2e-03 |
| rRNA processing | 6 | 11.6× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
110 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 95 |
| Likely benign | 11 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
660 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:144932587:CAAT:C | acceptor_gain | 1.0000 |
| 8:144932590:TCTGA:T | acceptor_loss | 1.0000 |
| 8:144932591:C:CC | acceptor_gain | 1.0000 |
| 8:144950793:TAACC:T | donor_loss | 1.0000 |
| 8:144950794:AAC:A | donor_loss | 1.0000 |
| 8:144932586:ACAAT:A | acceptor_gain | 0.9900 |
| 8:144932587:CAATC:C | acceptor_gain | 0.9900 |
| 8:144932588:AAT:A | acceptor_gain | 0.9900 |
| 8:144932589:AT:A | acceptor_gain | 0.9900 |
| 8:144932597:C:CT | acceptor_gain | 0.9900 |
| 8:144932598:A:T | acceptor_gain | 0.9900 |
| 8:144933349:CAATT:C | donor_gain | 0.9900 |
| 8:144933357:A:AC | donor_gain | 0.9800 |
| 8:144933358:C:CC | donor_gain | 0.9800 |
| 8:144946070:C:CT | donor_gain | 0.9800 |
| 8:144950795:A:AC | donor_gain | 0.9800 |
| 8:144950796:C:CC | donor_gain | 0.9800 |
| 8:144950796:CCT:C | donor_gain | 0.9800 |
| 8:144932589:ATCT:A | acceptor_gain | 0.9700 |
| 8:144950293:CAGAG:C | donor_gain | 0.9700 |
| 8:144950294:AGAGA:A | donor_gain | 0.9700 |
| 8:144950754:A:AT | donor_gain | 0.9700 |
| 8:144932588:AATCT:A | acceptor_gain | 0.9600 |
| 8:144946010:CCTGG:C | donor_gain | 0.9600 |
| 8:144946040:T:TA | donor_gain | 0.9600 |
| 8:144932599:A:AC | acceptor_gain | 0.9300 |
| 8:144946214:ACCTG:A | acceptor_loss | 0.9300 |
| 8:144946215:CCTGA:C | acceptor_loss | 0.9300 |
| 8:144946216:CTGA:C | acceptor_loss | 0.9300 |
| 8:144946217:T:G | acceptor_loss | 0.9300 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000144827 (8:144936076 C>G), RS1000276905 (8:144950844 G>A,C), RS1000299480 (8:144941976 ATTTTTTTT>A,AT,ATTT,ATTTT,ATTTTT,ATTTTTT,ATTTTTTT,ATTTTTTTTT,ATTTTTTTTTT,ATTTTTTTTTTT,ATTTTTTTTTTTT,ATTTTTTTTTTTTT,ATTTTTTTTTTTTTT,ATTTTTTTTTTTTTTTT), RS1000537313 (8:144939405 G>A), RS1000860790 (8:144948684 C>T), RS1001138942 (8:144933386 G>A,C), RS1001166140 (8:144942715 C>A), RS1001217101 (8:144942921 T>C), RS1001372014 (8:144935890 A>G), RS1001780679 (8:144936181 T>G), RS1001896146 (8:144951765 C>A,G,T), RS1001946775 (8:144952061 T>A), RS1002005340 (8:144947723 T>A,C), RS1002290530 (8:144930161 A>G), RS1002464271 (8:144947965 G>A)
Disease associations
OMIM: gene MIM:601262 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003013_31 | White matter hyperintensity burden | 3.000000e-07 |
| GCST007005_3 | Logical memory (immediate recall) in normal cognition | 5.000000e-07 |
| GCST007005_4 | Logical memory (immediate recall) in normal cognition | 2.000000e-07 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005665 | white matter hyperintensity measurement |
| EFO:0004874 | memory performance |
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 | 3 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | increases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Zinc | affects cotreatment, increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Magnetite Nanoparticles | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_HD11 | HEK293 eGFP-ZNF16 | Transformed 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.