ZSCAN25
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Also known as FLJ32468
Summary
ZSCAN25 (zinc finger and SCAN domain containing 25, HGNC:21961) is a protein-coding gene on chromosome 7q22.1, encoding Zinc finger and SCAN domain-containing protein 25 (Q6NSZ9). May be involved in transcriptional regulation.
This gene encodes a protein that bears some similarity to zinc finger proteins, which are involved in DNA binding and protein-protein interactions. Multiple alternatively spliced transcript variants have been identified, but the full-length nature for most of them has not been determined.
Source: NCBI Gene 221785 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 84 total
- MANE Select transcript:
NM_145115
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21961 |
| Approved symbol | ZSCAN25 |
| Name | zinc finger and SCAN domain containing 25 |
| Location | 7q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ32468 |
| Ensembl gene | ENSG00000197037 |
| Ensembl biotype | protein_coding |
| Entrez | 221785 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 16 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000394150, ENST00000394152, ENST00000431485, ENST00000466948, ENST00000473646, ENST00000481424, ENST00000485586, ENST00000493443, ENST00000873815, ENST00000873816, ENST00000873817, ENST00000873818, ENST00000873819, ENST00000873820, ENST00000873821, ENST00000873822, ENST00000873823, ENST00000873824, ENST00000873825, ENST00000919726, ENST00000919727, ENST00000964553
RefSeq mRNA: 9 — MANE Select: NM_145115
NM_001350979, NM_001350980, NM_001350981, NM_001350982, NM_001350983, NM_001350984, NM_001350985, NM_001350986, NM_145115
CCDS: CCDS5671
Canonical transcript exons
ENST00000394152 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001517630 | 99619561 | 99619993 |
| ENSE00001517631 | 99619048 | 99619132 |
| ENSE00001517632 | 99618525 | 99618651 |
| ENSE00001854753 | 99616946 | 99617016 |
| ENSE00003467099 | 99621373 | 99621574 |
| ENSE00003484736 | 99622549 | 99622640 |
| ENSE00003500678 | 99624057 | 99624180 |
| ENSE00003849931 | 99629191 | 99632408 |
Expression profiles
Bgee: expression breadth ubiquitous, 223 present calls, max score 93.09.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.5256 / max 103.8722, expressed in 1793 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 79897 | 13.5256 | 1793 |
Top tissues by expression
243 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 93.09 | silver quality |
| tibialis anterior | UBERON:0001385 | 86.40 | silver quality |
| secondary oocyte | CL:0000655 | 83.81 | gold quality |
| ileal mucosa | UBERON:0000331 | 82.21 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 81.77 | gold quality |
| bone marrow cell | CL:0002092 | 81.60 | gold quality |
| granulocyte | CL:0000094 | 80.79 | gold quality |
| oviduct epithelium | UBERON:0004804 | 80.49 | gold quality |
| oocyte | CL:0000023 | 80.46 | gold quality |
| colonic epithelium | UBERON:0000397 | 80.35 | gold quality |
| sural nerve | UBERON:0015488 | 80.12 | gold quality |
| ventricular zone | UBERON:0003053 | 80.04 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 79.82 | gold quality |
| calcaneal tendon | UBERON:0003701 | 79.80 | gold quality |
| cortical plate | UBERON:0005343 | 79.74 | gold quality |
| adrenal tissue | UBERON:0018303 | 78.89 | gold quality |
| ganglionic eminence | UBERON:0004023 | 78.78 | gold quality |
| tonsil | UBERON:0002372 | 78.37 | gold quality |
| ovary | UBERON:0000992 | 78.19 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 78.00 | gold quality |
| leukocyte | CL:0000738 | 77.70 | gold quality |
| deltoid | UBERON:0001476 | 77.47 | silver quality |
| smooth muscle tissue | UBERON:0001135 | 77.45 | gold quality |
| monocyte | CL:0000576 | 77.38 | gold quality |
| vermiform appendix | UBERON:0001154 | 77.26 | gold quality |
| stromal cell of endometrium | CL:0002255 | 77.25 | gold quality |
| left ovary | UBERON:0002119 | 77.20 | gold quality |
| fallopian tube | UBERON:0003889 | 77.06 | gold quality |
| skin of leg | UBERON:0001511 | 77.00 | gold quality |
| right ovary | UBERON:0002118 | 77.00 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.80 |
Regulation
Is transcription factor: yes
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA2517.1 | ZSCAN25 | More than 3 adjacent zinc fingers |
JASPAR matrix evidence (PMIDs): PMID:39605320
Upstream regulators (CollecTRI, top): TP53
miRNA regulators (miRDB)
78 targeting ZSCAN25, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-454-3P | 99.91 | 74.01 | 1925 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-6079 | 99.84 | 68.54 | 1170 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-320A-3P | 99.77 | 69.73 | 2107 |
| HSA-MIR-320B | 99.77 | 69.73 | 2107 |
| HSA-MIR-320C | 99.77 | 69.73 | 2107 |
| HSA-MIR-320D | 99.77 | 69.73 | 2107 |
| HSA-MIR-4429 | 99.77 | 69.62 | 2111 |
| HSA-MIR-4679 | 99.76 | 69.19 | 1229 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-378A-5P | 99.65 | 66.33 | 1311 |
Literature-anchored findings (GeneRIF, showing 2)
- ZNF498 promotes hepatocellular carcinogenesis by suppressing p53-mediated apoptosis and ferroptosis via the attenuation of p53 Ser46 phosphorylation. (PMID:35227287)
- ZSCAN25 methylation predicts seizures and severe alcohol withdrawal syndrome. (PMID:38166538)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Zscan25 | ENSMUSG00000070420 |
| rattus_norvegicus | Zscan25 | ENSRNOG00000042213 |
Paralogs (30): ZNF263 (ENSG00000006194), ZNF213 (ENSG00000085644), ZNF500 (ENSG00000103199), ZKSCAN1 (ENSG00000106261), ZNF205 (ENSG00000122386), ZSCAN9 (ENSG00000137185), PGBD1 (ENSG00000137338), ZNF215 (ENSG00000149054), ZSCAN12 (ENSG00000158691), ZNF394 (ENSG00000160908), ZNF75A (ENSG00000162086), ZSCAN21 (ENSG00000166529), ZNF232 (ENSG00000167840), ZNF24 (ENSG00000172466), ZNF449 (ENSG00000173275), ZSCAN4 (ENSG00000180532), ZSCAN22 (ENSG00000182318), ZNF75D (ENSG00000186376), ZNF396 (ENSG00000186496), ZNF397 (ENSG00000186812), ZSCAN30 (ENSG00000186814), ZKSCAN4 (ENSG00000187626), ZSCAN23 (ENSG00000187987), ZKSCAN3 (ENSG00000189298), ZSCAN16 (ENSG00000196812), ZSCAN26 (ENSG00000197062), ZNF165 (ENSG00000197279), ZKSCAN8 (ENSG00000198315), ZSCAN31 (ENSG00000235109), ZNF853 (ENSG00000236609)
Protein
Protein identifiers
Zinc finger and SCAN domain-containing protein 25 — Q6NSZ9 (reviewed: Q6NSZ9)
Alternative names: Zinc finger protein 498
All UniProt accessions (2): C9K079, Q6NSZ9
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? |
|---|---|---|
| Q6NSZ9-1 | 1 | yes |
| Q6NSZ9-2 | 2 | |
| Q6NSZ9-3 | 3 | |
| Q6NSZ9-4 | 4 |
RefSeq proteins (9): NP_001337908, NP_001337909, NP_001337910, NP_001337911, NP_001337912, NP_001337913, NP_001337914, NP_001337915, NP_660090* (*=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, PF02023
UniProt features (19 total): zinc finger region 7, cross-link 5, splice variant 3, chain 1, domain 1, sequence variant 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6NSZ9-F1 | 63.26 | 0.19 |
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 (5): 3, 22, 128, 278, 285
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
MSigDB gene sets: 68 (showing top):
GCANCTGNY_MYOD_Q6, SCGGAAGY_ELK1_02, YOSHIMURA_MAPK8_TARGETS_UP, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, KOINUMA_TARGETS_OF_SMAD2_OR_SMAD3, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, DIDO1_TARGET_GENES, DYRK1A_TARGET_GENES, E2F2_TARGET_GENES, ELF2_TARGET_GENES, GLI4_TARGET_GENES, SNAI1_TARGET_GENES, SNIP1_TARGET_GENES, TEAD2_TARGET_GENES, ZFP3_TARGET_GENES
GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355)
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), metal ion binding (GO:0046872), sequence-specific double-stranded DNA binding (GO:1990837)
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 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic 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 |
| cation binding | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
946 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZSCAN25 | ZBED8L | Q8TCP9 | 506 |
| ZSCAN25 | CYP3A5 | P20815 | 447 |
| ZSCAN25 | SSC4D | Q8WTU2 | 391 |
| ZSCAN25 | THEMIS2 | Q5TEJ8 | 388 |
| ZSCAN25 | CYP3A7 | P24462 | 363 |
| ZSCAN25 | TRMT1L | Q7Z2T5 | 356 |
| ZSCAN25 | CLEC18A | A5D8T8 | 355 |
| ZSCAN25 | SLC35E1 | Q96K37 | 328 |
| ZSCAN25 | RNF217 | Q8TC41 | 322 |
| ZSCAN25 | RBM19 | Q9Y4C8 | 317 |
| ZSCAN25 | MAFF | Q9ULX9 | 313 |
| ZSCAN25 | SH2D1B | O14796 | 312 |
| ZSCAN25 | PTCD1 | O75127 | 301 |
| ZSCAN25 | RBPMS2 | Q6ZRY4 | 298 |
| ZSCAN25 | CEP85L | Q5SZL2 | 290 |
IntAct
84 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LARP7 | CCNT1 | psi-mi:“MI:0914”(association) | 0.850 |
| H2AX | PPM1G | psi-mi:“MI:0914”(association) | 0.730 |
| RPL14 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| H1-1 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| ZNF169 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF324B | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| RBM34 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RPS2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF483 | ZNF197 | psi-mi:“MI:0914”(association) | 0.530 |
| PGBD1 | ZNF213 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL30 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| ZBTB48 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| E4F1 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS3 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL7A | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| H1-1 | SURF6 | psi-mi:“MI:0914”(association) | 0.530 |
| WTAP | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| ZSCAN20 | ZNF197 | psi-mi:“MI:0914”(association) | 0.350 |
| PPAN | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.350 |
| SART3 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (92): ZSCAN25 (Affinity Capture-MS), ZSCAN25 (Affinity Capture-MS), ZSCAN25 (Affinity Capture-MS), ZSCAN25 (Affinity Capture-MS), ZSCAN25 (Affinity Capture-MS), ZSCAN25 (Affinity Capture-MS), ZSCAN25 (Affinity Capture-MS), ZSCAN25 (Affinity Capture-MS), ZSCAN25 (Affinity Capture-MS), ZSCAN25 (Affinity Capture-MS), ZSCAN25 (Affinity Capture-MS), ZSCAN25 (Affinity Capture-MS), ZSCAN25 (Affinity Capture-MS), ZSCAN25 (Affinity Capture-MS), ZSCAN25 (Affinity Capture-MS)
ESM2 similar proteins: A1YEQ3, A1YEV9, A1YFW6, A1YG26, A2T6W2, A2T712, A2T7G6, A2T7L7, A6NGD5, A6NJL1, A6QPT6, D2HQI1, O14771, O60304, O95125, O95201, P0CG00, P10754, P17022, P17029, P51815, Q15697, Q3B7M4, Q3URR7, Q4KLI1, Q4R8H9, Q58DK7, Q5DTZ0, Q5R670, Q5SXI5, Q5T619, Q642B9, Q6NSZ9, Q6P9G9, Q6ZMS7, Q810A1, Q8BGS3, Q8BZ34, Q8CF60, Q91VW9
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 89 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 | 7 | 42.4× | 3e-09 |
| Cap-dependent Translation Initiation | 7 | 42.4× | 3e-09 |
| SARS-CoV-1 modulates host translation machinery | 7 | 42.4× | 3e-09 |
| Eukaryotic Translation Elongation | 7 | 38.2× | 5e-09 |
| Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S | 7 | 37.3× | 6e-09 |
| Peptide chain elongation | 14 | 34.8× | 9e-17 |
| Viral mRNA Translation | 14 | 34.8× | 9e-17 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 14 | 34.5× | 9e-17 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 15 | 34.3× | 6e-17 |
| ribosomal small subunit biogenesis | 8 | 22.5× | 3e-07 |
| translation | 13 | 16.5× | 2e-10 |
| rRNA processing | 8 | 14.0× | 8e-06 |
| nucleosome assembly | 5 | 8.7× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
84 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 75 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1148 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:99619128:GGAGG:G | donor_gain | 1.0000 |
| 7:99619129:GAGGG:G | donor_gain | 1.0000 |
| 7:99619556:A:AG | acceptor_gain | 1.0000 |
| 7:99619556:AAAAG:A | acceptor_gain | 1.0000 |
| 7:99619557:AAAG:A | acceptor_gain | 1.0000 |
| 7:99619558:AAG:A | acceptor_gain | 1.0000 |
| 7:99619559:A:G | acceptor_gain | 1.0000 |
| 7:99619559:AG:A | acceptor_gain | 1.0000 |
| 7:99619560:G:A | acceptor_gain | 1.0000 |
| 7:99619990:GGCG:G | donor_gain | 1.0000 |
| 7:99619991:GCGG:G | donor_gain | 1.0000 |
| 7:99621878:G:GG | donor_gain | 1.0000 |
| 7:99618650:CT:C | donor_gain | 0.9900 |
| 7:99618652:G:GG | donor_gain | 0.9900 |
| 7:99619130:A:T | donor_gain | 0.9900 |
| 7:99619131:GG:G | donor_gain | 0.9900 |
| 7:99619132:GG:G | donor_gain | 0.9900 |
| 7:99619557:A:G | acceptor_gain | 0.9900 |
| 7:99619557:AAAGG:A | acceptor_gain | 0.9900 |
| 7:99619558:A:G | acceptor_gain | 0.9900 |
| 7:99619560:G:GG | acceptor_gain | 0.9900 |
| 7:99619936:C:T | donor_gain | 0.9900 |
| 7:99619956:TG:T | donor_gain | 0.9900 |
| 7:99619957:GG:G | donor_gain | 0.9900 |
| 7:99619961:G:GT | donor_gain | 0.9900 |
| 7:99619971:A:T | donor_gain | 0.9900 |
| 7:99619982:G:GT | donor_gain | 0.9900 |
| 7:99619994:GTGG:G | donor_gain | 0.9900 |
| 7:99624055:AGG:A | acceptor_gain | 0.9900 |
| 7:99624056:GGG:G | acceptor_gain | 0.9900 |
AlphaMissense
3565 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:99629454:T:C | F357L | 1.000 |
| 7:99629456:C:A | F357L | 1.000 |
| 7:99629456:C:G | F357L | 1.000 |
| 7:99629535:T:C | F384L | 1.000 |
| 7:99629537:T:A | F384L | 1.000 |
| 7:99629537:T:G | F384L | 1.000 |
| 7:99629619:T:C | F412L | 1.000 |
| 7:99629621:C:A | F412L | 1.000 |
| 7:99629621:C:G | F412L | 1.000 |
| 7:99629703:T:C | F440L | 1.000 |
| 7:99629705:C:A | F440L | 1.000 |
| 7:99629705:C:G | F440L | 1.000 |
| 7:99629784:T:C | F467L | 1.000 |
| 7:99629786:C:A | F467L | 1.000 |
| 7:99629786:C:G | F467L | 1.000 |
| 7:99629868:T:C | F495L | 1.000 |
| 7:99629870:C:A | F495L | 1.000 |
| 7:99629870:C:G | F495L | 1.000 |
| 7:99629455:T:C | F357S | 0.999 |
| 7:99629785:T:C | F467S | 0.999 |
| 7:99629869:T:C | F495S | 0.999 |
| 7:99629895:C:A | H504N | 0.999 |
| 7:99629897:C:A | H504Q | 0.999 |
| 7:99629897:C:G | H504Q | 0.999 |
| 7:99629952:T:C | F523L | 0.999 |
| 7:99629954:C:A | F523L | 0.999 |
| 7:99629954:C:G | F523L | 0.999 |
| 7:99629536:T:C | F384S | 0.998 |
| 7:99629653:G:C | R423P | 0.998 |
| 7:99629660:C:A | H425Q | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000006168 (7:99642880 T>C), RS1000093241 (7:99683083 A>T), RS1000111953 (7:99680238 C>T), RS1000123857 (7:99634865 C>G), RS1000188828 (7:99654881 T>C), RS1000189515 (7:99723701 A>T), RS1000192281 (7:99698266 C>G,T), RS1000203154 (7:99654534 A>G), RS1000240401 (7:99686821 G>A), RS1000298793 (7:99663016 C>G,T), RS1000318792 (7:99735367 T>C,G), RS1000335541 (7:99691751 A>G), RS1000385372 (7:99647557 G>A), RS1000472813 (7:99722816 A>G), RS1000500743 (7:99629918 G>A,C)
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
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000327_12 | Anthropometric traits | 6.000000e-06 |
| GCST000327_3 | Anthropometric traits | 5.000000e-06 |
| GCST000327_4 | Anthropometric traits | 4.000000e-06 |
| GCST006249_46 | Serum metabolite levels | 4.000000e-21 |
| GCST006249_47 | Serum metabolite levels | 1.000000e-45 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004302 | anthropometric measurement |
| EFO:0004338 | body weight |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
5 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs15524 | Toxicity | 3 | opioids | Opioid-Related Disorders |
| rs4646450 | Metabolism/PK | 3 | tacrolimus | Kidney Transplantation;Liver transplantation |
| rs776746 | Metabolism/PK | 3 | lumefantrine | Malaria |
| rs776746 | Metabolism/PK | 3 | lopinavir | HIV infectious disease |
| rs776746 | Toxicity | 3 | opioids | Opioid-Related Disorders |
PharmGKB variants
28 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs15524 | CYP3A5, ZSCAN25 | 3 | 4.00 | 3 | tacrolimus;carbamazepine;opioids |
| rs776746 | CYP3A5, ZSCAN25 | 3 | 6.25 | 62 | sunitinib;atorvastatin;carbamazepine;lumefantrine;lovastatin;simvastatin;nifedipine;ondansetron;apixaban;tacrolimus |
| rs2257401 | CYP3A7, ZSCAN25 | 0.00 | 0 | ||
| rs4646457 | ZSCAN25 | 0.00 | 0 | ||
| rs4646458 | ZSCAN25 | 0.00 | 0 | ||
| rs10242455 | ZSCAN25 | 0.00 | 0 | ||
| rs10264272 | CYP3A5, ZSCAN25 | 3 | 0.00 | 8 | lumefantrine |
| rs17161788 | CYP3A5, ZSCAN25 | 3 | 1.75 | 1 | atorvastatin |
| rs28383479 | CYP3A5, ZSCAN25 | 0.00 | 0 | ||
| rs41279854 | CYP3A5, ZSCAN25 | 0.00 | 0 | ||
| rs41303343 | CYP3A5, ZSCAN25 | 4 | -1.25 | 7 | lumefantrine |
| rs55817950 | CYP3A5, ZSCAN25 | 0.00 | 0 | ||
| rs56244447 | CYP3A5, ZSCAN25 | 0.00 | 0 | ||
| rs72552791 | CYP3A5, ZSCAN25 | 0.00 | 0 | ||
| rs10211 | CYP3A7, ZSCAN25 | 0.00 | 0 | ||
| rs4646450 | CYP3A5, ZSCAN25 | 3 | 4.75 | 1 | tacrolimus |
| rs3800959 | CYP3A5, ZSCAN25 | 0.00 | 0 | ||
| rs45446698 | CYP3A7, ZSCAN25 | 0.00 | 1 | ||
| rs4646453 | CYP3A5, ZSCAN25 | 0.00 | 0 | ||
| rs11568824 | CYP3A7, ZSCAN25 | 0.00 | 1 | ||
| rs45494802 | CYP3A7, ZSCAN25 | 0.00 | 1 | ||
| rs45575938 | CYP3A7, ZSCAN25 | 0.00 | 1 | ||
| rs45467892 | CYP3A7, ZSCAN25 | 0.00 | 1 | ||
| rs11568825 | CYP3A7, ZSCAN25 | 0.00 | 1 | ||
| rs11568826 | CYP3A7, ZSCAN25 | 0.00 | 1 | ||
| rs6977165 | CYP3A5, ZSCAN25 | 0.00 | 0 | ||
| rs4646449 | CYP3A5, ZSCAN25 | 0.00 | 0 | ||
| rs776744 | ZSCAN25 | 0.00 | 0 |
CTD chemical–gene interactions
17 total (human), top 17 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Doxorubicin | decreases expression, decreases response to substance | 2 |
| aristolochic acid I | increases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| TAK-243 | affects sumoylation | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| pentanal | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Sunitinib | increases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Manganese | increases abundance, increases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Acrylamide | increases expression | 1 |
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.