ZNF195
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Summary
ZNF195 (zinc finger protein 195, HGNC:12986) is a protein-coding gene on chromosome 11p15.5, encoding Zinc finger protein 195 (O14628). May be involved in transcriptional regulation.
This gene encodes a protein belonging to the Krueppel C2H2-type zinc-finger protein family. These family members are transcription factors that are implicated in a variety of cellular processes. This gene is located near the centromeric border of chromosome 11p15.5, next to an imprinted domain that is associated with maternal-specific loss of heterozygosity in Wilms’ tumors. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 7748 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 67 total
- MANE Select transcript:
NM_001130520
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12986 |
| Approved symbol | ZNF195 |
| Name | zinc finger protein 195 |
| Location | 11p15.5 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000005801 |
| Ensembl biotype | protein_coding |
| OMIM | 602187 |
| Entrez | 7748 |
Gene structure
Transcript identifiers
Ensembl transcripts: 36 — 22 protein_coding, 5 nonsense_mediated_decay, 5 retained_intron, 4 protein_coding_CDS_not_defined
ENST00000005082, ENST00000330692, ENST00000343338, ENST00000354599, ENST00000399602, ENST00000427810, ENST00000429541, ENST00000438262, ENST00000524857, ENST00000525313, ENST00000525502, ENST00000526501, ENST00000526540, ENST00000526598, ENST00000526601, ENST00000527386, ENST00000528218, ENST00000528410, ENST00000528636, ENST00000528796, ENST00000529085, ENST00000529228, ENST00000529678, ENST00000529789, ENST00000530643, ENST00000532539, ENST00000533036, ENST00000534569, ENST00000618467, ENST00000620374, ENST00000649622, ENST00000859310, ENST00000928995, ENST00000928996, ENST00000941946, ENST00000941947
RefSeq mRNA: 9 — MANE Select: NM_001130520
NM_001130519, NM_001130520, NM_001242841, NM_001242842, NM_001242843, NM_001256823, NM_001256824, NM_001256825, NM_007152
CCDS: CCDS41604, CCDS44521, CCDS44522, CCDS55736, CCDS55737, CCDS58111
Canonical transcript exons
ENST00000399602 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001886012 | 3357927 | 3360565 |
| ENSE00003547169 | 3370975 | 3371070 |
| ENSE00003547407 | 3360720 | 3360788 |
| ENSE00003577235 | 3379038 | 3379146 |
| ENSE00003586536 | 3361743 | 3361889 |
| ENSE00003685429 | 3371577 | 3371703 |
Expression profiles
Bgee: expression breadth ubiquitous, 275 present calls, max score 96.30.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.0515 / max 126.8765, expressed in 1806 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 118291 | 18.1171 | 1804 |
| 118292 | 0.6458 | 391 |
| 206164 | 0.2886 | 137 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 96.30 | gold quality |
| cortical plate | UBERON:0005343 | 94.66 | gold quality |
| ganglionic eminence | UBERON:0004023 | 93.34 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.02 | gold quality |
| embryo | UBERON:0000922 | 87.92 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 87.56 | gold quality |
| rectum | UBERON:0001052 | 87.53 | gold quality |
| cerebellar cortex | UBERON:0002129 | 87.41 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 87.24 | gold quality |
| islet of Langerhans | UBERON:0000006 | 86.70 | gold quality |
| body of pancreas | UBERON:0001150 | 86.61 | gold quality |
| ventricular zone | UBERON:0003053 | 86.52 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 86.15 | gold quality |
| pancreas | UBERON:0001264 | 85.53 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 84.96 | gold quality |
| cerebellum | UBERON:0002037 | 84.95 | gold quality |
| monocyte | CL:0000576 | 84.79 | gold quality |
| transverse colon | UBERON:0001157 | 84.75 | gold quality |
| granulocyte | CL:0000094 | 84.62 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 84.60 | gold quality |
| mononuclear cell | CL:0000842 | 84.53 | gold quality |
| adrenal tissue | UBERON:0018303 | 84.50 | gold quality |
| leukocyte | CL:0000738 | 84.49 | gold quality |
| spleen | UBERON:0002106 | 84.30 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.26 | gold quality |
| right frontal lobe | UBERON:0002810 | 84.22 | gold quality |
| gastrocnemius | UBERON:0001388 | 84.06 | gold quality |
| minor salivary gland | UBERON:0001830 | 83.94 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 83.89 | gold quality |
| metanephros cortex | UBERON:0010533 | 83.60 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.77 |
| E-MTAB-6386 | no | 748.70 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| JUN |
miRNA regulators (miRDB)
56 targeting ZNF195, 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-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-4503 | 99.85 | 71.45 | 1869 |
| HSA-MIR-383-3P | 99.85 | 65.84 | 1359 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-4766-5P | 99.75 | 69.23 | 2662 |
| HSA-MIR-3913-3P | 99.74 | 66.53 | 938 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-7154-5P | 99.69 | 70.52 | 1900 |
| HSA-MIR-580-3P | 99.67 | 69.23 | 1841 |
| HSA-MIR-1249-5P | 99.61 | 66.55 | 2049 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
| HSA-MIR-4276 | 99.56 | 67.66 | 2514 |
| HSA-MIR-6751-5P | 99.56 | 64.99 | 1145 |
| HSA-MIR-6733-3P | 99.54 | 67.80 | 1281 |
| HSA-MIR-657 | 99.48 | 66.02 | 848 |
| HSA-MIR-122B-5P | 99.46 | 70.81 | 1457 |
| HSA-MIR-12113 | 99.32 | 67.54 | 1072 |
| HSA-MIR-1264 | 99.25 | 66.81 | 1317 |
Literature-anchored findings (GeneRIF, showing 1)
- ZNF195 and SBF1 are potential biomarkers for gemcitabine sensitivity in head and neck squamous cell carcinoma cell lines. (PMID:24817947)
Cross-species orthologs
0 orthologs
Paralogs (176): 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), ZNF3 (ENSG00000166526)
Protein
Protein identifiers
Zinc finger protein 195 — O14628 (reviewed: O14628)
All UniProt accessions (13): O14628, A0A087WT67, C9JG37, E9PIN4, E9PIT0, E9PIY8, E9PLF5, E9PLW9, E9PMX5, E9PNM0, E9PPF8, E9PSE6, H0YDV1
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in transcriptional regulation.
Subcellular location. Nucleus.
Tissue specificity. Expressed in adult heart, brain, placenta, skeletal muscle and pancreas, and in fetal lung, kidney and brain. There is little expression in adult lung, liver and kidney.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
Isoforms (8)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O14628-1 | 1, A | yes |
| O14628-2 | 2, B | |
| O14628-3 | 3, C | |
| O14628-4 | 4 | |
| O14628-5 | 5 | |
| O14628-6 | 6 | |
| O14628-7 | 7 | |
| O14628-8 | 8 |
RefSeq proteins (9): NP_001123991, NP_001123992, NP_001229770, NP_001229771, NP_001229772, NP_001243752, NP_001243753, NP_001243754, NP_009083 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001909 | KRAB | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036051 | KRAB_dom_sf | Homologous_superfamily |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
Pfam: PF00096, PF01352, PF13912
UniProt features (25 total): zinc finger region 10, splice variant 5, sequence conflict 4, cross-link 2, chain 1, domain 1, region of interest 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O14628-F1 | 55.00 | 0.09 |
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 (3): 408, 383, 492
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
MSigDB gene sets: 113 (showing top):
PUJANA_CHEK2_PCC_NETWORK, BROWNE_HCMV_INFECTION_24HR_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, BILD_E2F3_ONCOGENIC_SIGNATURE, MODULE_123, DODD_NASOPHARYNGEAL_CARCINOMA_UP, MODULE_98, MODULE_48, MODULE_95, CHEN_HOXA5_TARGETS_9HR_UP, JAIN_NFKB_SIGNALING, MODULE_198, BENPORATH_ES_1, HAMAI_APOPTOSIS_VIA_TRAIL_UP, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING
GO Biological Process (2): regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357)
GO Molecular Function (5): 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), metal ion binding (GO:0046872)
GO Cellular Component (1): 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 |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 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 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
648 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF195 | SS18L2 | Q9UHA2 | 516 |
| ZNF195 | SMCO4 | Q9NRQ5 | 491 |
| ZNF195 | SLC66A1LP | A1A4F0 | 446 |
| ZNF195 | TRIM28 | Q13263 | 429 |
| ZNF195 | BEND2 | Q8NDZ0 | 407 |
| ZNF195 | MRGPRE | Q86SM8 | 398 |
| ZNF195 | AASDH | Q4L235 | 379 |
| ZNF195 | NEK4 | P51957 | 374 |
| ZNF195 | USP19 | O94966 | 363 |
| ZNF195 | SLC3A2 | P08195 | 353 |
| ZNF195 | LIN28B | Q6ZN17 | 350 |
| ZNF195 | DLGAP5 | Q15398 | 349 |
| ZNF195 | ZNF474 | Q6S9Z5 | 349 |
| ZNF195 | CXorf38 | Q8TB03 | 348 |
| ZNF195 | FAM90A1 | Q86YD7 | 348 |
IntAct
63 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZNF195 | BAG2 | psi-mi:“MI:0914”(association) | 0.530 |
| TRIM28 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| TRIM28 | ZNF320 | psi-mi:“MI:0914”(association) | 0.530 |
| IL13RA2 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| SKP2 | DPYSL4 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF764 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.530 |
| HSPB8 | VWA8 | psi-mi:“MI:0914”(association) | 0.530 |
| PCBD1 | ZNF195 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF195 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| CBX5 | ZNF568 | psi-mi:“MI:0914”(association) | 0.350 |
| KRT2 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| FBLN5 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF460 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| SPANXN2 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF677 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| CFAP184 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| TRIM52 | MEIOC | psi-mi:“MI:0914”(association) | 0.350 |
| RFPL4B | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| C6orf141 | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| THSD4 | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| KRT38 | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| TEX19 | ZNF316 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL15 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| F9 | APBB1 | psi-mi:“MI:0914”(association) | 0.350 |
| LYPD4 | PIK3C2A | psi-mi:“MI:0914”(association) | 0.350 |
| MAP3K20 | MEIS1 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF484 | ZNF195 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (69): ZNF195 (Affinity Capture-MS), ZNF195 (Affinity Capture-MS), ZNF195 (Affinity Capture-MS), ZNF195 (Affinity Capture-MS), ZNF195 (Affinity Capture-MS), ZNF195 (Affinity Capture-MS), ZNF195 (Affinity Capture-MS), ZNF195 (Affinity Capture-MS), ZNF195 (Affinity Capture-MS), ZNF195 (Affinity Capture-MS), ZNF195 (Affinity Capture-MS), ZNF195 (Affinity Capture-MS), ZNF195 (Affinity Capture-MS), ZNF195 (Affinity Capture-MS), ZNF195 (Affinity Capture-MS)
ESM2 similar proteins: A0JPL0, A6NK53, E7ETH6, E9Q8G5, O14628, P21506, P51508, Q09FC8, Q13360, Q2M218, Q2M3X9, Q2VY69, Q3KQV3, Q3SY52, Q4R882, Q5HY98, Q5REN4, Q5RES8, Q68DI1, Q6NX49, Q6P280, Q6PG37, Q6V9R5, Q6ZMW2, Q7Z340, Q86XU0, Q8IYI8, Q8N587, Q8N720, Q8N859, Q8NB42, Q8NDW4, Q8NEK5, Q8WXB4, Q96MR9, Q96MU6, Q96NG8, Q96NJ3, Q96SR6, Q9BR84
Diamond homologs: A0A1W2PQL4, A6NK75, A6NN14, A6NNF4, A6NP11, A8MQ14, A8MTY0, A8MUV8, A8MXY4, B4DX44, B4DXR9, E9PYI1, O14628, O43345, O75290, O75346, O75373, O75437, O95780, P0CB33, P0DKX0, P0DPD5, P16373, P17019, P17038, P21506, P35789, P52736, P52738, P52744, Q03923, Q03924, Q03936, Q03938, Q05481, Q14586, Q14593, Q14929, Q15928, Q3KNS6
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
67 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 59 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1260 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:3368790:A:C | donor_gain | 1.0000 |
| 11:3371554:C:CT | donor_gain | 1.0000 |
| 11:3371555:T:TT | donor_gain | 1.0000 |
| 11:3371560:A:AC | donor_gain | 1.0000 |
| 11:3371569:AT:A | donor_gain | 1.0000 |
| 11:3371576:CCAA:C | donor_gain | 1.0000 |
| 11:3371616:C:A | donor_gain | 1.0000 |
| 11:3379033:CTCA:C | donor_loss | 1.0000 |
| 11:3379036:A:AC | donor_gain | 1.0000 |
| 11:3379037:C:CC | donor_gain | 1.0000 |
| 11:3379037:CCAT:C | donor_gain | 1.0000 |
| 11:3360561:CATAG:C | acceptor_gain | 0.9900 |
| 11:3360563:TAG:T | acceptor_gain | 0.9900 |
| 11:3368795:T:C | donor_gain | 0.9900 |
| 11:3369355:AC:A | donor_gain | 0.9900 |
| 11:3369356:CC:C | donor_gain | 0.9900 |
| 11:3369465:T:TC | acceptor_gain | 0.9900 |
| 11:3370995:T:TA | donor_gain | 0.9900 |
| 11:3371071:CT:C | acceptor_loss | 0.9900 |
| 11:3371072:T:G | acceptor_loss | 0.9900 |
| 11:3371076:T:TC | acceptor_gain | 0.9900 |
| 11:3371571:CCTCA:C | donor_loss | 0.9900 |
| 11:3371572:CTCA:C | donor_loss | 0.9900 |
| 11:3371573:TCA:T | donor_loss | 0.9900 |
| 11:3371574:C:CG | donor_loss | 0.9900 |
| 11:3371575:A:AC | donor_gain | 0.9900 |
| 11:3371575:A:AG | donor_loss | 0.9900 |
| 11:3371576:C:A | donor_loss | 0.9900 |
| 11:3371576:C:CC | donor_gain | 0.9900 |
| 11:3371615:T:TA | donor_gain | 0.9900 |
AlphaMissense
4202 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:3359163:G:C | F615L | 0.997 |
| 11:3359163:G:T | F615L | 0.997 |
| 11:3359165:A:G | F615L | 0.997 |
| 11:3359247:A:C | F587L | 0.997 |
| 11:3359247:A:T | F587L | 0.997 |
| 11:3359249:A:G | F587L | 0.997 |
| 11:3359230:A:G | L593P | 0.996 |
| 11:3359248:A:G | F587S | 0.996 |
| 11:3359398:A:G | L537P | 0.996 |
| 11:3359415:A:C | F531L | 0.996 |
| 11:3359415:A:T | F531L | 0.996 |
| 11:3359417:A:G | F531L | 0.996 |
| 11:3359331:G:C | F559L | 0.995 |
| 11:3359331:G:T | F559L | 0.995 |
| 11:3359333:A:G | F559L | 0.995 |
| 11:3359146:A:G | L621P | 0.994 |
| 11:3359416:A:G | F531S | 0.994 |
| 11:3359583:G:C | F475L | 0.994 |
| 11:3359583:G:T | F475L | 0.994 |
| 11:3359585:A:G | F475L | 0.994 |
| 11:3359222:G:C | H596D | 0.993 |
| 11:3359354:A:G | C552R | 0.993 |
| 11:3359390:G:C | H540D | 0.993 |
| 11:3359482:A:G | L509P | 0.993 |
| 11:3359164:A:G | F615S | 0.992 |
| 11:3359270:A:G | C580R | 0.992 |
| 11:3359438:A:G | C524R | 0.992 |
| 11:3371668:G:C | F13L | 0.992 |
| 11:3371668:G:T | F13L | 0.992 |
| 11:3371670:A:G | F13L | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000085505 (11:3370288 A>G), RS1000116895 (11:3370029 C>A,T), RS1000129116 (11:3363384 T>C), RS1000148922 (11:3358218 G>A,C), RS1000420362 (11:3364664 A>G), RS1000735289 (11:3380816 C>G), RS1000765161 (11:3380396 G>A), RS1001333035 (11:3375349 C>G), RS1001444366 (11:3379636 G>A,T), RS1001470119 (11:3375643 C>G), RS1001585057 (11:3373838 G>A), RS1001711257 (11:3366892 C>T), RS1001892398 (11:3375049 T>TA), RS1002298380 (11:3369706 A>G), RS1002313399 (11:3363205 A>G)
Disease associations
OMIM: gene MIM:602187 | 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 |
|---|---|---|
| GCST010725_20 | Malaria | 4.000000e-69 |
| GCST010725_33 | Malaria | 2.000000e-67 |
| GCST010725_51 | Malaria | 1.000000e-55 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Aflatoxin B1 | increases expression, increases methylation | 3 |
| Arsenic | affects methylation, decreases expression, increases abundance | 2 |
| Benzo(a)pyrene | decreases expression, increases methylation | 2 |
| Cisplatin | increases expression | 2 |
| Formaldehyde | decreases expression, increases expression | 2 |
| Particulate Matter | increases expression, increases abundance | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| geraniol | increases expression | 1 |
| 2-butenal | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | decreases expression, increases abundance | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| ochratoxin A | decreases expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Gallic Acid | decreases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Nickel | 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_XW15 | HEK293 eGFP-ZNF195 | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): malaria