ZCWPW1
gene geneOn this page
Also known as FLJ10057DKFZp434N0510ZCW1
Summary
ZCWPW1 (zinc finger CW-type and PWWP domain containing 1, HGNC:23486) is a protein-coding gene on chromosome 7q22.1, encoding Zinc finger CW-type PWWP domain protein 1 (Q9H0M4). Dual histone methylation reader specific for PRDM9-catalyzed histone marks (H3K4me3 and H3K36me3).
Enables histone reader activity; methyl-CpG binding activity; and methylated histone binding activity. Predicted to be involved in meiosis I; positive regulation of DNA metabolic process; and spermatogenesis. Predicted to act upstream of or within homologous chromosome pairing at meiosis. Predicted to be located in XY body. Predicted to be active in nucleus.
Source: NCBI Gene 55063 — RefSeq curated summary.
At a glance
- GWAS associations: 15
- Clinical variants (ClinVar): 111 total — 1 pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_001386010
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23486 |
| Approved symbol | ZCWPW1 |
| Name | zinc finger CW-type and PWWP domain containing 1 |
| Location | 7q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10057, DKFZp434N0510, ZCW1 |
| Ensembl gene | ENSG00000078487 |
| Ensembl biotype | protein_coding |
| OMIM | 618900 |
| Entrez | 55063 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 23 protein_coding, 3 retained_intron
ENST00000360951, ENST00000398027, ENST00000464510, ENST00000471336, ENST00000472716, ENST00000479315, ENST00000490089, ENST00000490721, ENST00000684423, ENST00000857285, ENST00000857286, ENST00000857287, ENST00000857288, ENST00000857289, ENST00000857291, ENST00000857292, ENST00000857293, ENST00000857294, ENST00000857295, ENST00000857296, ENST00000857297, ENST00000857298, ENST00000857299, ENST00000958741, ENST00000958742, ENST00000958743
RefSeq mRNA: 18 — MANE Select: NM_001386010
NM_001258008, NM_001386008, NM_001386009, NM_001386010, NM_001386011, NM_001386012, NM_001386013, NM_001386015, NM_001386016, NM_001386017, NM_001386018, NM_001386019, NM_001386020, NM_001386021, NM_001386022, NM_001386023, NM_001388066, NM_017984
CCDS: CCDS43623, CCDS59067, CCDS94155
Canonical transcript exons
ENST00000684423 — 18 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001180416 | 100402516 | 100402576 |
| ENSE00001350580 | 100425030 | 100425136 |
| ENSE00001481569 | 100401889 | 100402041 |
| ENSE00003469144 | 100409428 | 100409544 |
| ENSE00003471064 | 100417066 | 100417183 |
| ENSE00003476155 | 100404178 | 100404244 |
| ENSE00003489214 | 100415975 | 100416097 |
| ENSE00003538394 | 100403694 | 100403785 |
| ENSE00003557354 | 100416305 | 100416456 |
| ENSE00003601557 | 100406694 | 100406798 |
| ENSE00003614669 | 100419111 | 100419189 |
| ENSE00003617005 | 100405013 | 100405093 |
| ENSE00003633351 | 100419630 | 100419883 |
| ENSE00003660056 | 100420622 | 100420678 |
| ENSE00003681962 | 100407228 | 100407303 |
| ENSE00003684545 | 100408539 | 100408659 |
| ENSE00003918846 | 100400872 | 100401336 |
| ENSE00003920013 | 100428568 | 100428703 |
Expression profiles
Bgee: expression breadth ubiquitous, 189 present calls, max score 96.85.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.9216 / max 113.2223, expressed in 1398 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 85192 | 1.7659 | 960 |
| 85193 | 0.9887 | 352 |
| 85189 | 0.6366 | 268 |
| 85191 | 0.4733 | 222 |
| 85190 | 0.0571 | 14 |
Top tissues by expression
266 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right testis | UBERON:0004534 | 96.85 | gold quality |
| left testis | UBERON:0004533 | 96.76 | gold quality |
| testis | UBERON:0000473 | 94.87 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 92.74 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 92.70 | gold quality |
| sural nerve | UBERON:0015488 | 88.74 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 86.48 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 86.44 | gold quality |
| cerebellar cortex | UBERON:0002129 | 86.42 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 85.94 | gold quality |
| cerebellum | UBERON:0002037 | 85.36 | gold quality |
| spinal cord | UBERON:0002240 | 85.36 | gold quality |
| calcaneal tendon | UBERON:0003701 | 84.53 | gold quality |
| monocyte | CL:0000576 | 84.19 | gold quality |
| mononuclear cell | CL:0000842 | 84.04 | gold quality |
| apex of heart | UBERON:0002098 | 83.74 | gold quality |
| leukocyte | CL:0000738 | 83.58 | gold quality |
| vena cava | UBERON:0004087 | 83.27 | gold quality |
| tendon | UBERON:0000043 | 83.20 | gold quality |
| cerebellar vermis | UBERON:0004720 | 82.67 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 82.09 | silver quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 82.02 | gold quality |
| right uterine tube | UBERON:0001302 | 81.89 | gold quality |
| type B pancreatic cell | CL:0000169 | 81.31 | gold quality |
| olfactory bulb | UBERON:0002264 | 81.27 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 80.96 | gold quality |
| right lobe of liver | UBERON:0001114 | 80.62 | gold quality |
| substantia nigra | UBERON:0002038 | 80.53 | gold quality |
| granulocyte | CL:0000094 | 80.52 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 80.51 | silver quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-124263 | yes | 2615.78 |
| E-MTAB-9543 | yes | 1303.12 |
| E-GEOD-134144 | yes | 29.07 |
| E-ANND-3 | no | 4.53 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
8 targeting ZCWPW1, 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-3154 | 98.94 | 66.55 | 1455 |
| HSA-MIR-6760-5P | 98.87 | 66.73 | 1515 |
| HSA-MIR-4477A | 98.83 | 69.75 | 2952 |
| HSA-MIR-583 | 98.71 | 67.44 | 1791 |
| HSA-MIR-6878-5P | 98.49 | 67.91 | 2142 |
| HSA-MIR-4662A-5P | 98.48 | 67.18 | 1007 |
| HSA-MIR-103B | 95.51 | 66.85 | 441 |
| HSA-MIR-3130-3P | 94.98 | 66.97 | 574 |
Literature-anchored findings (GeneRIF, showing 7)
- Of those 394 variants, 34 showed strong evidence of regulatory function (RegulomeDB score <3), and only 3 of them were genome-wide significant SNPs (ZCWPW1/rs1476679, CLU/rs1532278 and ABCA7/rs3764650). (PMID:24743338)
- PILRB and GATS expression levels, within the ZCWPW1 locus, were associated with Alzheimer’s disease status. (PMID:26919393)
- rs1476679 polymorphism in ZCWPW1 is associated with late-onset Alzheimer’s disease. (PMID:26958812)
- ZCWPW1 is recruited to recombination hotspots by PRDM9 and is essential for meiotic double strand break repair. (PMID:32744506)
- PRDM9 losses in vertebrates are coupled to those of paralogs ZCWPW1 and ZCWPW2. (PMID:35217607)
- The histone modification reader ZCWPW1 promotes double-strand break repair by regulating cross-talk of histone modifications and chromatin accessibility at meiotic hotspots. (PMID:36068616)
- A loss-of-function variant in ZCWPW1 causes human male infertility with sperm head defect and high DNA fragmentation. (PMID:38310235)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Zcwpw1 | ENSMUSG00000037108 |
| rattus_norvegicus | Zcwpw1 | ENSRNOG00000052199 |
Paralogs (1): ZCWPW2 (ENSG00000206559)
Protein
Protein identifiers
Zinc finger CW-type PWWP domain protein 1 — Q9H0M4 (reviewed: Q9H0M4)
All UniProt accessions (5): Q9H0M4, A0A0S2Z5N7, A0A804HK41, C9JUV7, H7C4V9
UniProt curated annotations — full annotation on UniProt →
Function. Dual histone methylation reader specific for PRDM9-catalyzed histone marks (H3K4me3 and H3K36me3). Facilitates the repair of PRDM9-induced meiotic double-strand breaks (DSBs). Essential for male fertility and spermatogenesis. Required for meiosis prophase I progression in male but not in female germ cells.
Subcellular location. Nucleus. Chromosome.
Tissue specificity. Testis.
Domain organisation. The CW-TYPE zinc finger mediates its binding to trimethylated histone H3K4me3.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H0M4-1 | 1 | yes |
| Q9H0M4-2 | 2 | |
| Q9H0M4-3 | 3 | |
| Q9H0M4-4 | 4 | |
| Q9H0M4-5 | 5 |
RefSeq proteins (18): NP_001244937, NP_001372937, NP_001372938, NP_001372939, NP_001372940, NP_001372941, NP_001372942, NP_001372944, NP_001372945, NP_001372946, NP_001372947, NP_001372948, NP_001372949, NP_001372950, NP_001372951, NP_001372952, NP_001374995, NP_060454 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000313 | PWWP_dom | Domain |
| IPR011124 | Znf_CW | Domain |
| IPR042778 | ZCWPW1/ZCWPW2 | Family |
Pfam: PF00855, PF07496
UniProt features (45 total): compositionally biased region 8, splice variant 8, mutagenesis site 7, binding site 4, strand 4, region of interest 3, sequence variant 2, turn 2, helix 2, chain 1, domain 1, modified residue 1, zinc finger region 1, coiled-coil region 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2E61 | SOLUTION NMR | |
| 2RR4 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H0M4-F1 | 56.15 | 0.23 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (4): 259; 264; 285; 296
Post-translational modifications (1): 636
Mutagenesis-validated functional residues (7):
| Position | Phenotype |
|---|---|
| 256 | loss of histone h3k4me3 binding; when associated with r-301; l-302 and p-303. |
| 300 | reduced histone h3k4me3 binding but complete loss of non-methylated histone h3k4 binding. |
| 301 | loss of histone h3k4me3 binding; when associated with i-256; l-302 and p-303. |
| 302 | loss of histone h3k4me3 binding; when associated with i-256; r-301 and p-303. |
| 303 | reduced histone h3k4me3 binding but no effect on non-methylated histone h3k4 binding. |
| 303 | slightly reduced histone h3k4me3 and non-methylated histone h3k4 binding. |
| 303 | loss of histone h3k4me3 binding; when associated with i-256; r-301 and l-302. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 149 (showing top):
GOBP_MEIOTIC_CHROMOSOME_SEGREGATION, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, RNGTGGGC_UNKNOWN, GOBP_CHROMOSOME_ORGANIZATION, GOBP_REGULATION_OF_DNA_RECOMBINATION, TGCGCANK_UNKNOWN, E2F4DP1_01, GOBP_MALE_GAMETE_GENERATION, GGGTGGRR_PAX4_03, GOBP_REGULATION_OF_DNA_REPAIR, AACWWCAANK_UNKNOWN, E2F1DP1_01, E2F1DP2_01, GOBP_ORGANELLE_FISSION, BACH2_01
GO Biological Process (9): meiosis I (GO:0007127), homologous chromosome pairing at meiosis (GO:0007129), spermatogenesis (GO:0007283), cell differentiation (GO:0030154), epigenetic regulation of gene expression (GO:0040029), positive regulation of DNA recombination (GO:0045911), positive regulation of double-strand break repair (GO:2000781), chromatin organization (GO:0006325), double-strand break repair involved in meiotic recombination (GO:1990918)
GO Molecular Function (6): zinc ion binding (GO:0008270), histone H3K4me3 reader activity (GO:0140002), protein binding (GO:0005515), metal ion binding (GO:0046872), histone H3K36me3 reader activity (GO:0140003), histone reader activity (GO:0140566)
GO Cellular Component (3): nucleus (GO:0005634), chromosome (GO:0005694), XY body (GO:0001741)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| double-strand break repair | 2 |
| histone H3 reader activity | 2 |
| meiotic telophase I | 1 |
| meiosis I cell cycle process | 1 |
| meiotic nuclear division | 1 |
| homologous chromosome segregation | 1 |
| chromosome organization involved in meiotic cell cycle | 1 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| cellular developmental process | 1 |
| chromatin remodeling | 1 |
| regulation of gene expression | 1 |
| regulation of DNA recombination | 1 |
| DNA recombination | 1 |
| positive regulation of DNA metabolic process | 1 |
| positive regulation of DNA repair | 1 |
| regulation of double-strand break repair | 1 |
| cellular component organization | 1 |
| reciprocal meiotic recombination | 1 |
| meiotic cell cycle process | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| nucleosome | 1 |
| histone binding | 1 |
| chromatin-protein adaptor activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
| sex chromosome | 1 |
| condensed chromatin of inactivated sex chromosome | 1 |
Protein interactions and networks
STRING
1437 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZCWPW1 | SLC24A4 | Q8NFF2 | 827 |
| ZCWPW1 | CASS4 | Q9NQ75 | 800 |
| ZCWPW1 | NME8 | Q8N427 | 794 |
| ZCWPW1 | FERMT2 | Q96AC1 | 764 |
| ZCWPW1 | ABCA7 | Q8IZY2 | 762 |
| ZCWPW1 | RIN3 | Q8TB24 | 720 |
| ZCWPW1 | SORL1 | Q92673 | 720 |
| ZCWPW1 | CELF1 | Q92879 | 720 |
| ZCWPW1 | MS4A6A | Q9H2W1 | 719 |
| ZCWPW1 | PICALM | Q13492 | 718 |
| ZCWPW1 | CD2AP | Q9Y5K6 | 713 |
| ZCWPW1 | HLA-DRB5 | Q30154 | 698 |
| ZCWPW1 | INPP5D | Q92835 | 692 |
| ZCWPW1 | BIN1 | O00499 | 670 |
| ZCWPW1 | EPHA1 | P21709 | 661 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZCWPW1 | psi-mi:“MI:0407”(direct interaction) | 0.440 | |
| ZCWPW1 | H1-2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZCWPW1 | PLXDC2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MEF2A | REV3L | psi-mi:“MI:0914”(association) | 0.350 |
| BMI1 | MEIS3P1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (11): ZCWPW1 (Affinity Capture-MS), ZCWPW1 (Affinity Capture-MS), MEOX2 (Two-hybrid), L3MBTL3 (Two-hybrid), VAC14 (Two-hybrid), ZCWPW1 (Proximity Label-MS), ZCWPW1 (Negative Genetic), PLXDC2 (Affinity Capture-MS), ZCWPW1 (Cross-Linking-MS (XL-MS)), ZCWPW1 (Cross-Linking-MS (XL-MS)), ZCWPW1 (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A0A1B0GUA9, A0JNH1, A1L170, A2TJV2, A6H7B4, A6NFA0, A6NGY1, A6X8Z5, A7YY35, B2RQL2, D3Z1D3, M0RD54, P43359, Q05860, Q0VF49, Q1RMX6, Q1RN00, Q2M1Z3, Q32LI3, Q3URK1, Q5EBJ4, Q5M831, Q5RJL0, Q62100, Q640N3, Q64256, Q642A3, Q66H53, Q66LM6, Q68D20, Q68DA7, Q68US1, Q6AXN6, Q6AYA8, Q6IR42, Q711Q0, Q80VY2, Q86UF4, Q8IY42, Q8TDR4
Diamond homologs: A0AHX3, A0L7L5, A2RCQ8, A2RJC8, A3DE67, A4IRL1, A4VSW4, A4VZ51, A4XK62, A6TNX0, A7Z7E7, A8MHU4, A9KR74, B1YJY5, B4U143, B5XI46, B8CX98, B8DI00, B8I1Z8, B9MK78, C0MAV6, C0MEM8, C1L2D7, C5D5Q8, E1BYJ2, O04716, O51125, O74502, O96028, P52701, P54276, P61671, Q02XM1, Q03834, Q03ES2, Q03IU4, Q045P1, Q189Q3, Q18FJ9, Q3IUH3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
111 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 82 |
| Likely benign | 9 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2685254 | GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1 | Pathogenic |
SpliceAI
2823 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:100403692:A:AC | donor_gain | 1.0000 |
| 7:100403693:C:CT | donor_gain | 1.0000 |
| 7:100403693:CTG:C | donor_gain | 1.0000 |
| 7:100403707:T:TA | donor_gain | 1.0000 |
| 7:100403710:T:TA | donor_gain | 1.0000 |
| 7:100406794:TTAGA:T | acceptor_gain | 1.0000 |
| 7:100406795:TAGA:T | acceptor_gain | 1.0000 |
| 7:100406797:GA:G | acceptor_gain | 1.0000 |
| 7:100406799:C:CC | acceptor_gain | 1.0000 |
| 7:100415987:T:C | donor_gain | 1.0000 |
| 7:100415991:T:A | donor_gain | 1.0000 |
| 7:100416095:CTT:C | acceptor_gain | 1.0000 |
| 7:100403688:T:C | donor_gain | 0.9900 |
| 7:100403688:TCTTA:T | donor_loss | 0.9900 |
| 7:100403689:CTTA:C | donor_loss | 0.9900 |
| 7:100403690:TTACT:T | donor_loss | 0.9900 |
| 7:100403691:T:TG | donor_loss | 0.9900 |
| 7:100403692:ACTG:A | donor_loss | 0.9900 |
| 7:100403693:C:A | donor_loss | 0.9900 |
| 7:100403693:CT:C | donor_gain | 0.9900 |
| 7:100403693:CTGT:C | donor_gain | 0.9900 |
| 7:100403703:T:A | donor_gain | 0.9900 |
| 7:100403725:T:TA | donor_gain | 0.9900 |
| 7:100403783:AGT:A | acceptor_gain | 0.9900 |
| 7:100403786:C:CC | acceptor_gain | 0.9900 |
| 7:100403786:C:CG | acceptor_loss | 0.9900 |
| 7:100405024:T:C | donor_gain | 0.9900 |
| 7:100405089:TTTTT:T | acceptor_gain | 0.9900 |
| 7:100406688:GCTC:G | donor_loss | 0.9900 |
| 7:100406689:CT:C | donor_loss | 0.9900 |
AlphaMissense
4278 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:100406753:A:G | W371R | 0.999 |
| 7:100406753:A:T | W371R | 0.999 |
| 7:100407302:A:G | W331R | 0.999 |
| 7:100407302:A:T | W331R | 0.999 |
| 7:100409492:C:A | R268S | 0.999 |
| 7:100409492:C:G | R268S | 0.999 |
| 7:100409449:A:G | W283R | 0.998 |
| 7:100409449:A:T | W283R | 0.998 |
| 7:100409493:C:G | R268T | 0.998 |
| 7:100409497:A:G | W267R | 0.998 |
| 7:100409497:A:T | W267R | 0.998 |
| 7:100408564:A:G | W322R | 0.997 |
| 7:100408564:A:T | W322R | 0.997 |
| 7:100409495:C:A | W267C | 0.997 |
| 7:100409495:C:G | W267C | 0.997 |
| 7:100409521:A:G | C259R | 0.997 |
| 7:100407295:C:T | G333D | 0.996 |
| 7:100407300:C:A | W331C | 0.996 |
| 7:100407300:C:G | W331C | 0.996 |
| 7:100408560:G:T | A323D | 0.996 |
| 7:100408561:C:G | A323P | 0.996 |
| 7:100408573:A:G | S319P | 0.996 |
| 7:100409447:C:A | W283C | 0.996 |
| 7:100409447:C:G | W283C | 0.996 |
| 7:100406734:A:G | L377P | 0.995 |
| 7:100406751:C:A | W371C | 0.995 |
| 7:100406751:C:G | W371C | 0.995 |
| 7:100406758:C:G | R369P | 0.995 |
| 7:100406785:A:T | V360E | 0.995 |
| 7:100409443:A:G | C285R | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000070255 (7:100402528 T>C,G), RS1000135882 (7:100413824 G>C), RS1000215 (7:100406920 T>C), RS1000217 (7:100407147 C>A,G), RS1000271968 (7:100414290 G>A), RS1000333534 (7:100428392 C>T), RS1000339558 (7:100406551 C>A,T), RS1000440512 (7:100421595 T>G), RS1000450244 (7:100421232 C>A,T), RS1000645204 (7:100427491 G>A,C,T), RS1000676116 (7:100427923 C>G), RS1000719121 (7:100415137 G>A), RS1000728752 (7:100408395 T>C), RS1000730700 (7:100407814 G>C), RS1001099584 (7:100420198 T>A)
Disease associations
OMIM: gene MIM:618900 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
15 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002245_15 | Alzheimer’s disease (late onset) | 6.000000e-10 |
| GCST004607_155 | Plateletcrit | 5.000000e-13 |
| GCST004616_187 | Platelet distribution width | 5.000000e-51 |
| GCST007319_16 | Alzheimer’s disease (late onset) | 6.000000e-09 |
| GCST007319_32 | Alzheimer’s disease (late onset) | 2.000000e-07 |
| GCST007320_103 | Alzheimer’s disease or family history of Alzheimer’s disease | 6.000000e-14 |
| GCST007320_71 | Alzheimer’s disease or family history of Alzheimer’s disease | 2.000000e-15 |
| GCST007321_32 | Family history of Alzheimer’s disease | 2.000000e-10 |
| GCST007321_33 | Family history of Alzheimer’s disease | 1.000000e-09 |
| GCST009021_10 | Alzheimer’s disease | 2.000000e-06 |
| GCST010002_259 | Refractive error | 3.000000e-16 |
| GCST010083_55 | Hemoglobin levels | 2.000000e-26 |
| GCST010702_48 | Subcortical volume (MOSTest) | 6.000000e-10 |
| GCST010703_289 | Brain morphology (MOSTest) | 6.000000e-15 |
| GCST90002404_296 | Red cell distribution width | 3.000000e-14 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007985 | platelet crit |
| EFO:0007984 | platelet component distribution width |
| EFO:0009268 | family history of Alzheimer’s disease |
| EFO:0004509 | hemoglobin measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0009188 | Red cell distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4739863 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, increases methylation | 2 |
| Valproic Acid | affects expression, decreases methylation | 2 |
| Thapsigargin | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| jinfukang | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Rotenone | increases expression | 1 |
| Selenium | affects cotreatment, increases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Tunicamycin | increases expression | 1 |
| Vitamin E | affects cotreatment, increases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | increases expression | 1 |
| Particulate Matter | increases abundance, increases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4736942 | Binding | Binding affinity to ZCWPW1 PWWP1 domain (unknown origin) assessed as aggregation temperature at 400 uM by heating at 25 to 85 degC by differential static light scattering method | Discovery of Small-Molecule Antagonists of the PWWP Domain of NSD2. — J Med Chem |
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.