ZSCAN18
gene geneOn this page
Also known as FLJ12895
Summary
ZSCAN18 (zinc finger and SCAN domain containing 18, HGNC:21037) is a protein-coding gene on chromosome 19q13.43, encoding Zinc finger and SCAN domain-containing protein 18 (Q8TBC5). May be involved in transcriptional regulation.
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus.
Source: NCBI Gene 65982 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 98 total
- MANE Select transcript:
NM_001145543
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21037 |
| Approved symbol | ZSCAN18 |
| Name | zinc finger and SCAN domain containing 18 |
| Location | 19q13.43 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ12895 |
| Ensembl gene | ENSG00000121413 |
| Ensembl biotype | protein_coding |
| Entrez | 65982 |
Gene structure
Transcript identifiers
Ensembl transcripts: 39 — 33 protein_coding, 5 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000240727, ENST00000421612, ENST00000433686, ENST00000594191, ENST00000594567, ENST00000595721, ENST00000595784, ENST00000595944, ENST00000596372, ENST00000598497, ENST00000600318, ENST00000600404, ENST00000600522, ENST00000600845, ENST00000600897, ENST00000601063, ENST00000601144, ENST00000861637, ENST00000861638, ENST00000861639, ENST00000861640, ENST00000861641, ENST00000861642, ENST00000861643, ENST00000861644, ENST00000861645, ENST00000861646, ENST00000861647, ENST00000861648, ENST00000861649, ENST00000861650, ENST00000861651, ENST00000861652, ENST00000861653, ENST00000932259, ENST00000932260, ENST00000932261, ENST00000941784, ENST00000941785
RefSeq mRNA: 4 — MANE Select: NM_001145543
NM_001145542, NM_001145543, NM_001145544, NM_023926
CCDS: CCDS12971, CCDS46214, CCDS46215
Canonical transcript exons
ENST00000601144 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000822507 | 58087316 | 58087404 |
| ENSE00003004982 | 58098174 | 58098231 |
| ENSE00003127539 | 58083856 | 58085379 |
| ENSE00003592705 | 58086906 | 58087008 |
| ENSE00003602144 | 58089865 | 58090386 |
| ENSE00003679515 | 58086174 | 58086266 |
| ENSE00003788930 | 58088688 | 58088837 |
Expression profiles
Bgee: expression breadth ubiquitous, 293 present calls, max score 98.44.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.8075 / max 146.6726, expressed in 1557 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 182932 | 14.4257 | 1556 |
| 182933 | 0.2770 | 100 |
| 182931 | 0.1047 | 42 |
Top tissues by expression
296 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 98.44 | gold quality |
| pituitary gland | UBERON:0000007 | 97.66 | gold quality |
| adenohypophysis | UBERON:0002196 | 97.65 | gold quality |
| nucleus accumbens | UBERON:0001882 | 97.16 | gold quality |
| postcentral gyrus | UBERON:0002581 | 97.13 | gold quality |
| hypothalamus | UBERON:0001898 | 97.10 | gold quality |
| right frontal lobe | UBERON:0002810 | 97.05 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.03 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 96.94 | gold quality |
| thyroid gland | UBERON:0002046 | 96.73 | gold quality |
| caudate nucleus | UBERON:0001873 | 96.71 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 96.71 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 96.67 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 96.65 | gold quality |
| cingulate cortex | UBERON:0003027 | 96.64 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 96.64 | gold quality |
| cerebellar cortex | UBERON:0002129 | 96.62 | gold quality |
| parietal lobe | UBERON:0001872 | 96.54 | gold quality |
| left ovary | UBERON:0002119 | 96.41 | gold quality |
| putamen | UBERON:0001874 | 96.37 | gold quality |
| cerebellum | UBERON:0002037 | 96.33 | gold quality |
| amygdala | UBERON:0001876 | 96.32 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 96.26 | gold quality |
| forebrain | UBERON:0001890 | 96.23 | gold quality |
| Ammon’s horn | UBERON:0001954 | 96.22 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 96.22 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 96.21 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 96.20 | gold quality |
| lower esophagus | UBERON:0013473 | 96.19 | gold quality |
| temporal lobe | UBERON:0001871 | 96.15 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.24 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| CDKN2A |
miRNA regulators (miRDB)
21 targeting ZSCAN18, 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-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-4679 | 99.76 | 69.19 | 1229 |
| HSA-MIR-1324 | 99.46 | 66.57 | 1302 |
| HSA-MIR-3922-3P | 99.25 | 64.96 | 1136 |
| HSA-MIR-3176 | 99.25 | 64.35 | 954 |
| HSA-MIR-4774-3P | 98.90 | 67.82 | 737 |
| HSA-MIR-7977 | 98.65 | 66.18 | 2590 |
| HSA-MIR-1178-3P | 98.57 | 67.09 | 890 |
| HSA-MIR-550A-3P | 98.37 | 69.61 | 632 |
| HSA-MIR-1262 | 98.17 | 66.52 | 757 |
| HSA-MIR-4701-3P | 98.17 | 66.25 | 788 |
| HSA-MIR-6736-5P | 98.17 | 66.43 | 760 |
| HSA-MIR-200C-5P | 97.71 | 67.73 | 596 |
| HSA-MIR-3127-5P | 97.52 | 65.24 | 786 |
| HSA-MIR-3121-5P | 97.30 | 66.62 | 1146 |
| HSA-MIR-3152-5P | 96.98 | 66.88 | 819 |
| HSA-MIR-4474-5P | 94.23 | 67.95 | 568 |
| HSA-MIR-5090 | 93.28 | 60.86 | 94 |
| HSA-MIR-6775-5P | 92.43 | 61.00 | 132 |
| HSA-MIR-6090 | 91.01 | 62.65 | 222 |
Literature-anchored findings (GeneRIF, showing 3)
- A high negative correlation between promoter DNA methylation and gene expression was observed for CDO1, ZNF331 and ZSCAN18 in gastrointestinal tumors. (PMID:24948044)
- Inactivation of ZSCAN18 by promoter hypermethylation drives the proliferation via attenuating TP53INP2-mediated autophagy in gastric cancer cells. (PMID:36650573)
- Zinc finger and SCAN domain-containing protein 18 is a potential DNA methylation-modified tumor suppressor and biomarker in breast cancer. (PMID:37223020)
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 | Zscan18 | ENSMUSG00000070822 |
| rattus_norvegicus | Zscan18 | ENSRNOG00000026861 |
| 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), ZNF576 (ENSG00000124444), OVOL2 (ENSG00000125850), PLAGL2 (ENSG00000126003), ZSCAN5A (ENSG00000131848), ZSCAN29 (ENSG00000140265), ZSCAN32 (ENSG00000140987), ZSCAN1 (ENSG00000152467), ZNF18 (ENSG00000154957), ZKSCAN2 (ENSG00000155592), ZNF496 (ENSG00000162714), ZNF202 (ENSG00000166261), 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 and SCAN domain-containing protein 18 — Q8TBC5 (reviewed: Q8TBC5)
Alternative names: Zinc finger protein 447
All UniProt accessions (8): A0A0C4DG78, Q8TBC5, M0QXJ0, M0QZ65, M0R111, M0R1U9, M0R364, M0R3C6
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in transcriptional regulation.
Subcellular location. Nucleus.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TBC5-1 | 1 | yes |
| Q8TBC5-2 | 2 | |
| Q8TBC5-3 | 3 | |
| Q8TBC5-4 | 4 |
RefSeq proteins (4): NP_001139014, NP_001139015, NP_001139016, NP_076415 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003309 | SCAN_dom | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR038269 | SCAN_sf | Homologous_superfamily |
| IPR050916 | SCAN-C2H2_zinc_finger | Family |
Pfam: PF02023
UniProt features (19 total): compositionally biased region 5, region of interest 5, splice variant 3, zinc finger region 2, chain 1, domain 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TBC5-F1 | 53.99 | 0.01 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 85 (showing top):
SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A5, ROSS_LEUKEMIA_WITH_MLL_FUSIONS, GATA1_01, BOYAULT_LIVER_CANCER_SUBCLASS_G1_UP, ACEVEDO_LIVER_CANCER_UP, TGCCTTA_MIR124A, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_DN, HUTTMANN_B_CLL_POOR_SURVIVAL_UP, TORCHIA_TARGETS_OF_EWSR1_FLI1_FUSION_DN, LIM_MAMMARY_LUMINAL_MATURE_UP, ONKEN_UVEAL_MELANOMA_DN, EGFR_UP.V1_DN, WINTER_HYPOXIA_DN
GO Biological Process (1): regulation of transcription by RNA polymerase II (GO:0006357)
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 (1): nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| 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 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
670 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZSCAN18 | CDO1 | P78513 | 678 |
| ZSCAN18 | DCLK1 | O15075 | 613 |
| ZSCAN18 | SFRP1 | Q8N474 | 570 |
| ZSCAN18 | KLHL35 | Q6PF15 | 507 |
| ZSCAN18 | ZNF331 | Q9NQX6 | 423 |
| ZSCAN18 | ATP5MC2 | Q06055 | 403 |
| ZSCAN18 | CNRIP1 | Q96F85 | 399 |
| ZSCAN18 | CORO6 | Q6QEF8 | 392 |
| ZSCAN18 | CCDC8 | Q9H0W5 | 391 |
| ZSCAN18 | FOXI2 | Q6ZQN5 | 391 |
| ZSCAN18 | ANKUB1 | A6NFN9 | 369 |
| ZSCAN18 | SCUBE3 | Q8IX30 | 367 |
| ZSCAN18 | RUBCNL | Q9H714 | 348 |
| ZSCAN18 | SCAND1 | P57086 | 342 |
| ZSCAN18 | WDR17 | Q8IZU2 | 336 |
IntAct
67 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MSH2 | MSH3 | psi-mi:“MI:0914”(association) | 0.920 |
| CSNK1A1 | FAM83G | psi-mi:“MI:0914”(association) | 0.900 |
| PGBD1 | ZNF24 | psi-mi:“MI:0914”(association) | 0.900 |
| ZSCAN18 | PGBD1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| SCAND1 | ZSCAN18 | psi-mi:“MI:0915”(physical association) | 0.740 |
| ZSCAN18 | SCAND1 | psi-mi:“MI:0914”(association) | 0.740 |
| EPM2AIP1 | ZSCAN18 | psi-mi:“MI:0915”(physical association) | 0.670 |
| ZSCAN18 | SUFU | psi-mi:“MI:0915”(physical association) | 0.670 |
| ZNF397 | ZNF213 | psi-mi:“MI:0914”(association) | 0.640 |
| ZSCAN18 | FDXACB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZSCAN22 | ZSCAN18 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF174 | ZSCAN18 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZSCAN18 | ZNF446 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZSCAN32 | ZNF197 | psi-mi:“MI:0914”(association) | 0.530 |
| PGBD1 | ZNF213 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF396 | ZNF24 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF213 | ZNF24 | psi-mi:“MI:0914”(association) | 0.530 |
| ZSCAN18 | ZNF24 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF215 | SCAND1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZKSCAN4 | FN1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZSCAN9 | SCAND1 | psi-mi:“MI:0914”(association) | 0.530 |
| HOXD4 | ZSCAN18 | psi-mi:“MI:0915”(physical association) | 0.370 |
| LIG4 | ZSCAN18 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SAFB2 | ZSCAN18 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MAPT | MEX3A | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| GLI2 | SPOP | psi-mi:“MI:0914”(association) | 0.350 |
| FGFR2 | LANCL1 | psi-mi:“MI:0914”(association) | 0.350 |
| ZKSCAN8 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (68): ZSCAN18 (Affinity Capture-MS), ZSCAN18 (Affinity Capture-MS), ZSCAN18 (Affinity Capture-MS), ZSCAN18 (Affinity Capture-MS), ZSCAN18 (Affinity Capture-MS), ZSCAN18 (Affinity Capture-MS), ZSCAN18 (Affinity Capture-MS), ZSCAN18 (Affinity Capture-MS), ZSCAN18 (Affinity Capture-MS), ZSCAN18 (Affinity Capture-MS), ZSCAN18 (Two-hybrid), ZSCAN18 (Two-hybrid), ZSCAN18 (Two-hybrid), PGBD1 (Two-hybrid), SCAND1 (Two-hybrid)
ESM2 similar proteins: A0A0U1RRK4, A0A1W2PR82, A1YGK1, A2T7E6, A4D1S0, A6NEL2, A6QP24, A6QPM6, O43593, O43918, O94850, O95873, P0C7X2, P50617, P97609, Q3B7M4, Q3UM83, Q5FWE3, Q5JPB2, Q5M844, Q5XJV6, Q61645, Q64322, Q6GQX2, Q6NZ36, Q6PE13, Q6UWD8, Q6ZMS7, Q6ZW13, Q76NI1, Q7Z6P3, Q8BWG4, Q8BZW2, Q8IWN7, Q8NBB4, Q8NDX1, Q8NHY3, Q8TBC5, Q8TER5, Q91XA5
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
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 64 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 |
|---|---|---|---|
| Hedgehog ‘on’ state | 5 | 24.0× | 7e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
98 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 84 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1360 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:58086168:CCTCA:C | donor_loss | 1.0000 |
| 19:58086169:CTCA:C | donor_loss | 1.0000 |
| 19:58086170:TCA:T | donor_loss | 1.0000 |
| 19:58086171:CAC:C | donor_loss | 1.0000 |
| 19:58086187:T:TA | donor_gain | 1.0000 |
| 19:58086262:ATACC:A | acceptor_gain | 1.0000 |
| 19:58086263:TACC:T | acceptor_gain | 1.0000 |
| 19:58086264:ACC:A | acceptor_gain | 1.0000 |
| 19:58086264:ACCC:A | acceptor_loss | 1.0000 |
| 19:58086265:CC:C | acceptor_gain | 1.0000 |
| 19:58086265:CCC:C | acceptor_gain | 1.0000 |
| 19:58086266:CC:C | acceptor_gain | 1.0000 |
| 19:58086267:C:CC | acceptor_gain | 1.0000 |
| 19:58086267:C:T | acceptor_gain | 1.0000 |
| 19:58086271:G:C | acceptor_gain | 1.0000 |
| 19:58086271:G:GC | acceptor_gain | 1.0000 |
| 19:58086276:G:C | acceptor_gain | 1.0000 |
| 19:58086276:G:GC | acceptor_gain | 1.0000 |
| 19:58086277:T:C | acceptor_gain | 1.0000 |
| 19:58086277:T:TC | acceptor_gain | 1.0000 |
| 19:58086285:C:CT | acceptor_gain | 1.0000 |
| 19:58086905:CCCCA:C | donor_gain | 1.0000 |
| 19:58086921:T:TA | donor_gain | 1.0000 |
| 19:58087311:CCCA:C | donor_loss | 1.0000 |
| 19:58087313:CAC:C | donor_loss | 1.0000 |
| 19:58087315:C:CA | donor_loss | 1.0000 |
| 19:58087400:CCAGG:C | acceptor_gain | 1.0000 |
| 19:58087401:CAGG:C | acceptor_gain | 1.0000 |
| 19:58087401:CAGGC:C | acceptor_gain | 1.0000 |
| 19:58087402:AGG:A | acceptor_gain | 1.0000 |
AlphaMissense
3282 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:58084952:G:C | F422L | 0.999 |
| 19:58084952:G:T | F422L | 0.999 |
| 19:58084954:A:G | F422L | 0.999 |
| 19:58084868:G:C | F450L | 0.998 |
| 19:58084868:G:T | F450L | 0.998 |
| 19:58084870:A:G | F450L | 0.998 |
| 19:58084935:A:G | L428P | 0.997 |
| 19:58089977:G:C | F97L | 0.995 |
| 19:58089977:G:T | F97L | 0.995 |
| 19:58089979:A:G | F97L | 0.995 |
| 19:58090059:A:G | L70P | 0.995 |
| 19:58090101:A:T | V56D | 0.995 |
| 19:58084841:G:C | H459Q | 0.994 |
| 19:58084841:G:T | H459Q | 0.994 |
| 19:58084891:A:G | C443R | 0.994 |
| 19:58084953:A:G | F422S | 0.994 |
| 19:58084975:A:G | C415R | 0.994 |
| 19:58089987:A:G | L94P | 0.994 |
| 19:58089996:A:G | L91P | 0.994 |
| 19:58090113:A:G | F52S | 0.994 |
| 19:58084869:A:G | F450S | 0.993 |
| 19:58084880:G:C | C446W | 0.993 |
| 19:58084882:A:G | C446R | 0.993 |
| 19:58089978:A:G | F97S | 0.993 |
| 19:58084881:C:T | C446Y | 0.992 |
| 19:58084925:G:C | H431Q | 0.992 |
| 19:58084925:G:T | H431Q | 0.992 |
| 19:58084964:G:C | C418W | 0.992 |
| 19:58084965:C:G | C418S | 0.992 |
| 19:58084966:A:T | C418S | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000049058 (19:58105744 T>C), RS1000158585 (19:58088238 A>G), RS1000202331 (19:58112861 G>C), RS1000313220 (19:58091212 A>G), RS1000324608 (19:58118028 G>C), RS1000357595 (19:58116583 C>G,T), RS1000378340 (19:58118233 C>A), RS1000399095 (19:58105522 G>A), RS1000811893 (19:58116852 T>C,G), RS1000824719 (19:58085504 C>A,G,T), RS1000841590 (19:58112607 C>T), RS1000893946 (19:58112758 T>C), RS1000900323 (19:58098195 C>A,G), RS1000949850 (19:58113990 C>T), RS1000955570 (19:58098308 A>G,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
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases methylation, affects cotreatment, decreases expression | 5 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, decreases expression, affects cotreatment | 2 |
| aristolochic acid I | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| pirinixic acid | increases expression, affects binding, increases activity | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| geraniol | increases expression | 1 |
| arsenite | decreases expression, increases methylation | 1 |
| sodium arsenite | decreases expression | 1 |
| potassium chromate(VI) | increases expression | 1 |
| methacrylaldehyde | increases oxidation, increases abundance, affects cotreatment | 1 |
| pentabromodiphenyl ether | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | increases methylation | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| NSC 689534 | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation | 1 |
| Benzo(a)pyrene | decreases methylation, increases methylation | 1 |
| Fluorouracil | affects response to substance | 1 |
| Mitoxantrone | affects response to substance | 1 |
| Ozone | increases oxidation, increases abundance, affects cotreatment | 1 |
| Polychlorinated Biphenyls | affects expression | 1 |
| Smoke | 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_XW90 | HEK293 eGFP-ZSCAN18 | 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.