ZNF202
gene geneOn this page
Also known as ZKSCAN10ZSCAN42
Summary
ZNF202 (zinc finger protein 202, HGNC:12994) is a protein-coding gene on chromosome 11q23.3, encoding Zinc finger protein 202 (O95125). Transcriptional repressor that binds to elements found predominantly in genes that participate in lipid metabolism.
Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in chromosome; nuclear body; and nucleolus.
Source: NCBI Gene 7753 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 69 total
- MANE Select transcript:
NM_003455
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12994 |
| Approved symbol | ZNF202 |
| Name | zinc finger protein 202 |
| Location | 11q23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZKSCAN10, ZSCAN42 |
| Ensembl gene | ENSG00000166261 |
| Ensembl biotype | protein_coding |
| OMIM | 603430 |
| Entrez | 7753 |
Gene structure
Transcript identifiers
Ensembl transcripts: 37 — 34 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000336139, ENST00000525391, ENST00000526252, ENST00000528306, ENST00000529250, ENST00000529691, ENST00000530393, ENST00000530944, ENST00000533463, ENST00000880206, ENST00000880207, ENST00000880208, ENST00000880209, ENST00000880210, ENST00000880211, ENST00000925721, ENST00000925722, ENST00000925723, ENST00000925724, ENST00000925725, ENST00000925726, ENST00000925727, ENST00000925728, ENST00000925729, ENST00000925730, ENST00000925731, ENST00000925732, ENST00000925733, ENST00000925734, ENST00000925735, ENST00000925736, ENST00000925737, ENST00000925738, ENST00000925739, ENST00000965489, ENST00000965490, ENST00000965491
RefSeq mRNA: 4 — MANE Select: NM_003455
NM_001301779, NM_001301780, NM_001301819, NM_003455
CCDS: CCDS8443
Canonical transcript exons
ENST00000530393 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001101510 | 123727476 | 123727595 |
| ENSE00001101512 | 123728133 | 123728262 |
| ENSE00001101515 | 123729126 | 123729214 |
| ENSE00001101523 | 123729615 | 123729825 |
| ENSE00001378603 | 123730487 | 123730985 |
| ENSE00001424554 | 123740417 | 123740536 |
| ENSE00001425163 | 123740117 | 123740192 |
| ENSE00002146557 | 123741549 | 123741660 |
| ENSE00003842847 | 123723914 | 123726991 |
Expression profiles
Bgee: expression breadth ubiquitous, 217 present calls, max score 87.02.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.3392 / max 75.1101, expressed in 1696 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 122922 | 5.3392 | 1696 |
Top tissues by expression
276 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 87.02 | gold quality |
| oocyte | CL:0000023 | 86.63 | gold quality |
| body of pancreas | UBERON:0001150 | 83.98 | gold quality |
| granulocyte | CL:0000094 | 83.20 | gold quality |
| cortical plate | UBERON:0005343 | 83.03 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.52 | gold quality |
| right ovary | UBERON:0002118 | 81.92 | gold quality |
| ventricular zone | UBERON:0003053 | 81.74 | gold quality |
| left ovary | UBERON:0002119 | 81.63 | gold quality |
| left uterine tube | UBERON:0001303 | 81.09 | gold quality |
| pancreas | UBERON:0001264 | 81.07 | gold quality |
| body of uterus | UBERON:0009853 | 81.02 | gold quality |
| rectum | UBERON:0001052 | 80.97 | gold quality |
| ganglionic eminence | UBERON:0004023 | 80.72 | gold quality |
| right testis | UBERON:0004534 | 80.70 | gold quality |
| ovary | UBERON:0000992 | 80.56 | gold quality |
| left testis | UBERON:0004533 | 80.36 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 79.93 | gold quality |
| monocyte | CL:0000576 | 79.88 | gold quality |
| testis | UBERON:0000473 | 79.75 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 79.62 | gold quality |
| gastrocnemius | UBERON:0001388 | 79.59 | gold quality |
| leukocyte | CL:0000738 | 79.58 | gold quality |
| mononuclear cell | CL:0000842 | 79.58 | gold quality |
| endocervix | UBERON:0000458 | 79.49 | gold quality |
| muscle of leg | UBERON:0001383 | 79.15 | gold quality |
| transverse colon | UBERON:0001157 | 79.14 | gold quality |
| spleen | UBERON:0002106 | 79.05 | gold quality |
| stromal cell of endometrium | CL:0002255 | 78.96 | gold quality |
| islet of Langerhans | UBERON:0000006 | 78.95 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.56 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
7 targets.
| Target | Regulation |
|---|---|
| ABCA1 | Repression |
| ABCG1 | Repression |
| AMACR | Unknown |
| APOA1 | Repression |
| APOE | |
| FSHR | Repression |
| POMGNT1 | Repression |
Upstream regulators (CollecTRI, top): SCAND1, SOX17
miRNA regulators (miRDB)
70 targeting ZNF202, 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-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| 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-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
| HSA-MIR-20A-5P | 99.88 | 74.76 | 2769 |
| HSA-MIR-20B-5P | 99.88 | 74.01 | 2621 |
| HSA-MIR-519D-3P | 99.88 | 73.97 | 2607 |
| HSA-MIR-93-5P | 99.88 | 73.98 | 2606 |
| HSA-MIR-526B-3P | 99.88 | 74.06 | 2587 |
| HSA-MIR-6505-5P | 99.73 | 69.25 | 1595 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-3660 | 99.68 | 67.33 | 1149 |
| HSA-MIR-4526 | 99.68 | 67.07 | 1136 |
| HSA-MIR-6516-3P | 99.65 | 68.57 | 1238 |
| HSA-MIR-586 | 99.65 | 70.40 | 2051 |
| HSA-MIR-5700 | 99.64 | 69.88 | 2280 |
| HSA-MIR-587 | 99.64 | 70.86 | 2611 |
| HSA-MIR-651-5P | 99.64 | 68.49 | 1104 |
Literature-anchored findings (GeneRIF, showing 4)
- This is the first study to suggest that ZNF202 could be a new candidate gene for ischemic heart disease and myocardial infarction in the general population. (PMID:16289551)
- findings show that genetic variation in ZNF202 is common in the general population. However, SNPs in the protein-coding region of ZNF202 do not make a major contribution to HDL cholesterol levels. (PMID:16467280)
- SOX17-Chromatin immunoprecipitation identified zinc finger protein 202 (Zfp202) as a direct target of SOX17 during endoderm differentiation of F9 embryonal carcinoma cells. (PMID:18523156)
- Homozygosity for a common functional promoter variant in ZNF202 predicts severe atherosclerosis and an increased risk of IHD. (PMID:18652945)
Cross-species orthologs
11 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | plagx | ENSDARG00000036855 |
| danio_rerio | ovol1a | ENSDARG00000076472 |
| danio_rerio | plagl2 | ENSDARG00000076657 |
| danio_rerio | ovol1b | ENSDARG00000078256 |
| mus_musculus | Zfp202 | ENSMUSG00000025602 |
| rattus_norvegicus | Zfp202 | ENSRNOG00000058932 |
| drosophila_melanogaster | hb | FBGN0001180 |
| drosophila_melanogaster | CG12391 | FBGN0033581 |
| caenorhabditis_elegans | WBGENE00001824 | |
| caenorhabditis_elegans | WBGENE00003033 | |
| caenorhabditis_elegans | WBGENE00012385 |
Paralogs (29): ZNF446 (ENSG00000083838), REST (ENSG00000084093), ZNF174 (ENSG00000103343), OVOL3 (ENSG00000105261), PLAGL1 (ENSG00000118495), ZSCAN18 (ENSG00000121413), ZNF576 (ENSG00000124444), OVOL2 (ENSG00000125850), PLAGL2 (ENSG00000126003), ZSCAN5A (ENSG00000131848), ZSCAN29 (ENSG00000140265), ZSCAN32 (ENSG00000140987), ZSCAN1 (ENSG00000152467), ZNF18 (ENSG00000154957), ZKSCAN2 (ENSG00000155592), ZNF496 (ENSG00000162714), ZNF641 (ENSG00000167528), ZNF444 (ENSG00000167685), SCAND1 (ENSG00000171222), ZNF274 (ENSG00000171606), ZNF131 (ENSG00000172262), OVOL1 (ENSG00000172818), ZNF518A (ENSG00000177853), ZNF518B (ENSG00000178163), PLAG1 (ENSG00000181690), ZSCAN5B (ENSG00000197213), ZNF770 (ENSG00000198146), PEG3 (ENSG00000198300), ZSCAN5C (ENSG00000204532)
Protein
Protein identifiers
Zinc finger protein 202 — O95125 (reviewed: O95125)
Alternative names: Zinc finger protein with KRAB and SCAN domains 10
All UniProt accessions (4): A0A1D5RMT9, E9PJL4, E9PM99, O95125
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional repressor that binds to elements found predominantly in genes that participate in lipid metabolism. Among its targets are structural components of lipoprotein particles (apolipoproteins AIV, CIII, and E), enzymes involved in lipid processing (lipoprotein lipase, lecithin cholesteryl ester transferase), transporters involved in lipid homeostasis (ABCA1, ABCG1), and several genes involved in processes related to energy metabolism and vascular disease.
Subunit / interactions. Interacts with SDP1.
Subcellular location. Nucleus.
Tissue specificity. Highly expressed in testis. Also expressed in breast carcinoma cell lines.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O95125-1 | Beta, 2 | yes |
| O95125-2 | Alpha, 1 |
RefSeq proteins (4): NP_001288708, NP_001288709, NP_001288748, NP_003446* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001909 | KRAB | Domain |
| IPR003309 | SCAN_dom | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036051 | KRAB_dom_sf | Homologous_superfamily |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR038269 | SCAN_sf | Homologous_superfamily |
Pfam: PF00096, PF01352, PF02023
UniProt features (25 total): zinc finger region 8, cross-link 5, sequence conflict 3, domain 2, sequence variant 2, chain 1, region of interest 1, compositionally biased region 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95125-F1 | 59.20 | 0.05 |
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 (6): 466, 22, 454, 460, 507, 521
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
MSigDB gene sets: 138 (showing top):
BROWNE_HCMV_INFECTION_4HR_UP, MORF_BRCA1, MORF_RAD51L3, MORF_CTSB, BLALOCK_ALZHEIMERS_DISEASE_UP, MORF_IL4, MORF_PRKCA, GOBP_LIPID_METABOLIC_PROCESS, AFP1_Q6, AACTTT_UNKNOWN, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, MORF_ATF2, MORF_PPP2R5B, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN, BROWNE_HCMV_INFECTION_14HR_UP
GO Biological Process (5): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), lipid metabolic process (GO:0006629), regulation of DNA-templated transcription (GO:0006355), negative regulation of DNA-templated transcription (GO:0045892)
GO Molecular Function (9): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), zinc ion binding (GO:0008270), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565), metal ion binding (GO:0046872)
GO Cellular Component (4): chromosome (GO:0005694), nucleolus (GO:0005730), nuclear body (GO:0016604), nucleus (GO:0005634)
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 |
|---|---|
| regulation of DNA-templated transcription | 3 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| intracellular membraneless organelle | 3 |
| regulation of transcription by RNA polymerase II | 2 |
| transcription by RNA polymerase II | 2 |
| DNA-templated transcription | 2 |
| negative regulation of DNA-templated transcription | 1 |
| primary metabolic process | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 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 |
| transition metal ion binding | 1 |
| nucleic acid binding | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| binding | 1 |
| DNA binding | 1 |
| cation binding | 1 |
| nuclear lumen | 1 |
| nucleoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1008 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF202 | MZF1 | P28698 | 787 |
| ZNF202 | ZNF474 | Q6S9Z5 | 660 |
| ZNF202 | ADTRP | Q96IZ2 | 618 |
| ZNF202 | ZNF534 | Q76KX8 | 611 |
| ZNF202 | SCN3B | Q9NY72 | 504 |
| ZNF202 | STK32B | Q9NY57 | 500 |
| ZNF202 | TBX10 | O75333 | 495 |
| ZNF202 | TRMO | Q9BU70 | 495 |
| ZNF202 | STX18 | Q9P2W9 | 493 |
| ZNF202 | CRMP1 | Q14194 | 492 |
| ZNF202 | EVC2 | Q86UK5 | 492 |
| ZNF202 | HEMGN | Q9BXL5 | 491 |
| ZNF202 | WNT11 | O96014 | 490 |
| ZNF202 | SATB2 | Q9UPW6 | 476 |
| ZNF202 | LCAT | P04180 | 460 |
IntAct
77 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KRT40 | ZNF202 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ZNF202 | KRT40 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ZNF202 | SCAND1 | psi-mi:“MI:0915”(physical association) | 0.660 |
| ZNF202 | SCAND1 | psi-mi:“MI:0914”(association) | 0.660 |
| ZNF202 | LMO4 | psi-mi:“MI:0915”(physical association) | 0.600 |
| ZNF202 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| ZNF202 | MTIF3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF202 | CEP70 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF202 | CARD10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF202 | MCC | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF202 | ZNF837 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF202 | SSX2IP | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF202 | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF202 | SEPHS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF202 | NAA11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF202 | MAD2L1BP | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF202 | NAA10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF202 | ZNF438 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF202 | ZNF250 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF202 | SCNM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF202 | EAF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF202 | ZNF835 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF202 | SNX2 | psi-mi:“MI:0915”(physical association) | 0.440 |
BioGRID (35): KRT40 (Two-hybrid), KRTAP10-3 (Two-hybrid), ZNF473 (Two-hybrid), ZMYM2 (Affinity Capture-MS), ZMYM3 (Affinity Capture-MS), SCAND1 (Affinity Capture-MS), TK1 (Affinity Capture-MS), ZNF202 (Affinity Capture-MS), RCOR3 (Affinity Capture-MS), ZNF202 (Two-hybrid), ZNF202 (Two-hybrid), ZNF202 (Two-hybrid), ZNF202 (Two-hybrid), ZNF202 (Two-hybrid), ZNF202 (Two-hybrid)
ESM2 similar proteins: A1YEQ3, A1YEV9, A1YFW6, A1YG26, A1YG48, A1YG60, A2T6W2, A2T712, A2T736, A2T7L7, A6QNZ0, O14978, O15535, O95125, P17022, P17029, P49910, P51815, P59923, Q07231, Q15776, Q16670, Q1LZ87, Q3MJ62, Q3URR7, Q4KLI1, Q4R8H9, Q53GI3, Q5R670, Q5R741, Q5RJ54, Q63HK3, Q642B9, Q6P9G9, Q810A1, Q86W11, Q8BGS3, Q8CF60, Q8NF99, Q92670
Diamond homologs: A1YEP8, A1YEQ3, A1YEV9, A1YFW2, A1YFW6, A1YG26, A1YG48, A1YG60, A1YGJ4, A1YGK6, A2T6E3, A2T6V8, A2T6W2, A2T712, A2T736, A2T7D2, A2T7D7, A2T7F2, A2T7F4, A2T7L7, A2T812, A6QNZ0, A6QPT6, B2KFW1, O14709, O14771, O14978, O15535, O43309, O60304, O95125, P10073, P17022, P17028, P17029, P17040, P28698, P49910, P51815, P59923
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ZNF202 | “down-regulates quantity by repression” | POMGNT1 | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
69 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 60 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1490 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:123728126:T:TA | donor_gain | 1.0000 |
| 11:123728128:CTTA:C | donor_loss | 1.0000 |
| 11:123728131:A:AC | donor_gain | 1.0000 |
| 11:123728131:A:T | donor_loss | 1.0000 |
| 11:123728132:C:CC | donor_gain | 1.0000 |
| 11:123728132:C:CG | donor_loss | 1.0000 |
| 11:123728132:CA:C | donor_gain | 1.0000 |
| 11:123728132:CACAG:C | donor_gain | 1.0000 |
| 11:123728162:T:TA | donor_gain | 1.0000 |
| 11:123729213:CT:C | acceptor_gain | 1.0000 |
| 11:123729215:C:CC | acceptor_gain | 1.0000 |
| 11:123729610:C:A | donor_gain | 1.0000 |
| 11:123729620:T:A | donor_gain | 1.0000 |
| 11:123729644:T:TA | donor_gain | 1.0000 |
| 11:123730542:T:TA | donor_gain | 1.0000 |
| 11:123730986:C:CC | acceptor_gain | 1.0000 |
| 11:123740432:T:TA | donor_gain | 1.0000 |
| 11:123741547:A:AC | donor_gain | 1.0000 |
| 11:123741548:C:CC | donor_gain | 1.0000 |
| 11:123741548:CGG:C | donor_gain | 1.0000 |
| 11:123741548:CGGCT:C | donor_gain | 1.0000 |
| 11:123726989:CTC:C | acceptor_gain | 0.9900 |
| 11:123726993:T:A | acceptor_loss | 0.9900 |
| 11:123727003:G:GC | acceptor_gain | 0.9900 |
| 11:123727470:CCTCA:C | donor_loss | 0.9900 |
| 11:123727471:CTCA:C | donor_loss | 0.9900 |
| 11:123727472:TCA:T | donor_loss | 0.9900 |
| 11:123727473:CACC:C | donor_loss | 0.9900 |
| 11:123727474:ACC:A | donor_loss | 0.9900 |
| 11:123727475:C:G | donor_loss | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000107100 (11:123731430 C>T), RS1000375346 (11:123725255 A>G), RS1000477735 (11:123731872 A>G), RS1000575230 (11:123741107 G>A), RS1000702029 (11:123731206 C>G,T), RS1000753845 (11:123742025 A>C), RS1000762377 (11:123724115 G>A), RS1000786123 (11:123737326 G>A), RS1001108285 (11:123737013 C>T), RS1001317758 (11:123728962 G>A), RS1001362147 (11:123741507 G>C), RS1001386055 (11:123730820 C>T), RS1001427092 (11:123742968 G>A), RS1001498516 (11:123736306 C>G,T), RS1001569461 (11:123735954 G>C)
Disease associations
OMIM: gene MIM:603430 | 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 |
|---|---|---|
| GCST000514_8 | Response to antipsychotic therapy (extrapyramidal side effects) | 4.000000e-07 |
| GCST003802_5 | Response to citalopram or escitalopram in depression | 7.000000e-07 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cyclosporine | increases expression | 3 |
| Valproic Acid | affects expression, decreases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| TAK-243 | decreases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | decreases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| ICG 001 | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Adenine | decreases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Cisplatin | decreases expression | 1 |
| Colchicine | decreases expression | 1 |
| Diuron | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Etoposide | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Herbicides | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Testosterone | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Mitomycin | decreases 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_XW17 | HEK293 eGFP-ZNF202 | 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.