ZKSCAN4
gene geneOn this page
Also known as p373c6.1P1P373C6FLJ32136ZSCAN36
Summary
ZKSCAN4 (zinc finger with KRAB and SCAN domains 4, HGNC:13854) is a protein-coding gene on chromosome 6p22.1, encoding Zinc finger protein with KRAB and SCAN domains 4 (Q969J2). May be involved in the transcriptional activation of MDM2 and EP300 genes.
Enables identical protein binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in nucleoplasm.
Source: NCBI Gene 387032 — RefSeq curated summary.
At a glance
- GWAS associations: 26
- Clinical variants (ClinVar): 66 total
- MANE Select transcript:
NM_019110
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13854 |
| Approved symbol | ZKSCAN4 |
| Name | zinc finger with KRAB and SCAN domains 4 |
| Location | 6p22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | p373c6.1, P1P373C6, FLJ32136, ZSCAN36 |
| Ensembl gene | ENSG00000187626 |
| Ensembl biotype | protein_coding |
| OMIM | 611643 |
| Entrez | 387032 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 8 protein_coding
ENST00000377294, ENST00000901698, ENST00000901699, ENST00000901700, ENST00000901701, ENST00000927145, ENST00000927146, ENST00000959508
RefSeq mRNA: 2 — MANE Select: NM_019110
NM_001304506, NM_019110
CCDS: CCDS4647
Canonical transcript exons
ENST00000377294 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001473458 | 28241697 | 28245975 |
| ENSE00001836023 | 28251558 | 28252269 |
| ENSE00001970341 | 28246969 | 28247092 |
| ENSE00001977144 | 28248067 | 28248149 |
| ENSE00003571983 | 28249687 | 28249834 |
Expression profiles
Bgee: expression breadth ubiquitous, 219 present calls, max score 87.54.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.4414 / max 48.7986, expressed in 1628 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 72403 | 3.7792 | 1563 |
| 72402 | 0.5784 | 356 |
| 72405 | 0.0838 | 34 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 87.54 | gold quality |
| male germ cell | CL:0000015 | 85.55 | gold quality |
| hair follicle | UBERON:0002073 | 84.44 | gold quality |
| oocyte | CL:0000023 | 83.54 | gold quality |
| secondary oocyte | CL:0000655 | 83.08 | gold quality |
| diaphragm | UBERON:0001103 | 82.50 | gold quality |
| adult organism | UBERON:0007023 | 79.94 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 77.46 | silver quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 74.84 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 74.48 | gold quality |
| gingival epithelium | UBERON:0001949 | 73.50 | silver quality |
| spleen | UBERON:0002106 | 72.53 | gold quality |
| granulocyte | CL:0000094 | 72.52 | gold quality |
| stromal cell of endometrium | CL:0002255 | 72.49 | gold quality |
| ganglionic eminence | UBERON:0004023 | 72.43 | gold quality |
| cortical plate | UBERON:0005343 | 72.25 | gold quality |
| ventricular zone | UBERON:0003053 | 72.07 | gold quality |
| gingiva | UBERON:0001828 | 71.71 | silver quality |
| embryo | UBERON:0000922 | 71.70 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 71.39 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 71.33 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 71.09 | silver quality |
| tongue squamous epithelium | UBERON:0006919 | 70.99 | gold quality |
| jejunal mucosa | UBERON:0000399 | 70.85 | gold quality |
| leukocyte | CL:0000738 | 70.11 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 69.77 | gold quality |
| mononuclear cell | CL:0000842 | 69.72 | gold quality |
| monocyte | CL:0000576 | 69.71 | gold quality |
| lymph node | UBERON:0000029 | 69.63 | gold quality |
| squamous epithelium | UBERON:0006914 | 69.61 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.85 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets.
| Target | Regulation |
|---|---|
| EP300 | Repression |
| MDM2 | Repression |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA2544.1 | ZKSCAN4 | More than 3 adjacent zinc fingers |
JASPAR matrix evidence (PMIDs): PMID:39605530
miRNA regulators (miRDB)
115 targeting ZKSCAN4, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
Literature-anchored findings (GeneRIF, showing 4)
- ZNF307 might suppress p53-p21 pathway through activating MDM2 and EP300 expression and inducing p53 degradation (PMID:17910948)
- The SCAN- and KRAB-domain-containing zinc finger protein 307 (ZKSCAN4) was co-precipitated with the receptor when both proteins were overexpressed in HEK293 cells. (PMID:19008334)
- ZNF307 ameliorates pressure overload-induced cardiac hypertrophy by inhibiting the activity of NF-kappaB-signaling pathway (PMID:28223477)
- our results indicate that ZNF307 may serve as a tumor suppressor and inhibits cell proliferation of hepatocellular carcinoma via inducing apoptosis (PMID:28765950)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Zkscan3 | ENSMUSG00000021327 |
| mus_musculus | Zkscan4 | ENSMUSG00000054931 |
| rattus_norvegicus | Zkscan4 | ENSRNOG00000051823 |
| rattus_norvegicus | Zkscan3 | ENSRNOG00000055000 |
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), ZSCAN23 (ENSG00000187987), ZKSCAN3 (ENSG00000189298), ZSCAN16 (ENSG00000196812), ZSCAN25 (ENSG00000197037), ZSCAN26 (ENSG00000197062), ZNF165 (ENSG00000197279), ZKSCAN8 (ENSG00000198315), ZSCAN31 (ENSG00000235109), ZNF853 (ENSG00000236609)
Protein
Protein identifiers
Zinc finger protein with KRAB and SCAN domains 4 — Q969J2 (reviewed: Q969J2)
Alternative names: P373c6.1, Zinc finger protein 307, Zinc finger protein 427
All UniProt accessions (2): A0A0S2Z658, Q969J2
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in the transcriptional activation of MDM2 and EP300 genes.
Subcellular location. Nucleus.
Tissue specificity. Expressed in adult heart, brain, placenta, lung and kidney, but not in adult liver and skeletal muscle. In 17-day old embryo, detected in liver, skeletal muscle, brain, heart and small intestine.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
RefSeq proteins (2): NP_001291435, NP_061983* (*=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 (20 total): zinc finger region 7, cross-link 4, region of interest 3, domain 2, compositionally biased region 2, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q969J2-F1 | 62.00 | 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 (4): 26, 29, 178, 222
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
MSigDB gene sets: 101 (showing top):
PIT1_Q6, NAGASHIMA_NRG1_SIGNALING_DN, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_RED_DN, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, YAGI_AML_WITH_T_8_21_TRANSLOCATION, ZWANG_EGF_INTERVAL_UP, DCA_UP.V1_DN, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, ALKBH3_TARGET_GENES, DIDO1_TARGET_GENES, HMG20B_TARGET_GENES, SNIP1_TARGET_GENES, ZNF329_TARGET_GENES, ZNF561_TARGET_GENES, ZNF8_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 (7): 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), identical protein binding (GO:0042802), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (2): nucleoplasm (GO:0005654), 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 |
| protein binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
702 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZKSCAN4 | NKAPL | Q5M9Q1 | 723 |
| ZKSCAN4 | MDM2 | Q00987 | 564 |
| ZKSCAN4 | EP300 | Q09472 | 506 |
| ZKSCAN4 | TSPAN18 | Q96SJ8 | 400 |
| ZKSCAN4 | TP53 | P04637 | 373 |
| ZKSCAN4 | ZNF804A | Q7Z570 | 367 |
| ZKSCAN4 | NKAP | Q8N5F7 | 355 |
| ZKSCAN4 | KRABD4 | Q5JUW0 | 348 |
| ZKSCAN4 | TIAM1 | Q13009 | 325 |
| ZKSCAN4 | CCDC15 | Q0P6D6 | 322 |
| ZKSCAN4 | CCDC157 | Q569K6 | 317 |
| ZKSCAN4 | L3MBTL2 | Q969R5 | 302 |
| ZKSCAN4 | TCAIM | Q8N3R3 | 287 |
| ZKSCAN4 | KAT8 | Q9H7Z6 | 286 |
| ZKSCAN4 | ZNF79 | Q15937 | 285 |
IntAct
162 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZNF24 | ZKSCAN4 | psi-mi:“MI:0915”(physical association) | 0.880 |
| ZKSCAN4 | SCAND1 | psi-mi:“MI:0915”(physical association) | 0.870 |
| SCAND1 | ZKSCAN4 | psi-mi:“MI:0915”(physical association) | 0.870 |
| ZKSCAN4 | SCAND1 | psi-mi:“MI:0914”(association) | 0.870 |
| ZKSCAN4 | ZNF496 | psi-mi:“MI:0915”(physical association) | 0.850 |
| ZNF496 | ZKSCAN4 | psi-mi:“MI:0915”(physical association) | 0.850 |
| ZKSCAN4 | ZSCAN32 | psi-mi:“MI:0915”(physical association) | 0.800 |
| ZSCAN32 | ZKSCAN4 | psi-mi:“MI:0915”(physical association) | 0.800 |
| CABP5 | ZKSCAN4 | psi-mi:“MI:0915”(physical association) | 0.780 |
| ZKSCAN4 | CABP5 | psi-mi:“MI:0915”(physical association) | 0.780 |
| ZKSCAN4 | PGBD1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| ZKSCAN4 | ZSCAN21 | psi-mi:“MI:0915”(physical association) | 0.740 |
| LXN | ZKSCAN4 | psi-mi:“MI:0915”(physical association) | 0.720 |
BioGRID (134): ZKSCAN4 (Two-hybrid), ZKSCAN4 (Two-hybrid), ZKSCAN4 (Two-hybrid), ZKSCAN4 (Two-hybrid), ZKSCAN4 (Two-hybrid), ZKSCAN4 (Two-hybrid), ZKSCAN4 (Two-hybrid), ZKSCAN4 (Two-hybrid), ZKSCAN4 (Affinity Capture-MS), ZKSCAN4 (Affinity Capture-MS), ZKSCAN4 (Affinity Capture-MS), ZKSCAN4 (Affinity Capture-MS), ZKSCAN4 (Affinity Capture-MS), ZKSCAN4 (Affinity Capture-MS), ZKSCAN4 (Proximity Label-MS)
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
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 76 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| transcription by RNA polymerase II | 7 | 7.0× | 1e-02 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
66 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 57 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
772 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:28247091:CC:C | acceptor_gain | 1.0000 |
| 6:28247092:CC:C | acceptor_gain | 1.0000 |
| 6:28246963:TCTTA:T | donor_loss | 0.9900 |
| 6:28246964:CTTA:C | donor_loss | 0.9900 |
| 6:28246965:TTACC:T | donor_loss | 0.9900 |
| 6:28246966:T:TG | donor_loss | 0.9900 |
| 6:28246968:C:A | donor_loss | 0.9900 |
| 6:28247094:TAAAA:T | acceptor_loss | 0.9900 |
| 6:28251608:C:CT | donor_gain | 0.9900 |
| 6:28251613:T:TA | donor_gain | 0.9900 |
| 6:28251648:G:C | donor_gain | 0.9900 |
| 6:28246967:A:AC | donor_gain | 0.9800 |
| 6:28246968:C:CC | donor_gain | 0.9800 |
| 6:28251543:A:C | donor_gain | 0.9800 |
| 6:28251609:C:CT | donor_gain | 0.9800 |
| 6:28245974:ACCTG:A | acceptor_loss | 0.9700 |
| 6:28247505:C:CT | donor_gain | 0.9700 |
| 6:28247506:T:TT | donor_gain | 0.9700 |
| 6:28251467:CCTGG:C | donor_gain | 0.9700 |
| 6:28245977:TGAAA:T | acceptor_loss | 0.9600 |
| 6:28251466:TCCTG:T | donor_gain | 0.9600 |
| 6:28251469:TGG:T | donor_gain | 0.9600 |
| 6:28251685:TCCAG:T | donor_gain | 0.9600 |
| 6:28251686:CCAGC:C | donor_gain | 0.9600 |
| 6:28245972:CCAC:C | acceptor_gain | 0.9500 |
| 6:28245973:CACC:C | acceptor_gain | 0.9500 |
| 6:28247093:C:CC | acceptor_gain | 0.9500 |
| 6:28251605:C:CT | donor_gain | 0.9500 |
| 6:28247093:C:T | acceptor_gain | 0.9400 |
| 6:28248148:AACT:A | acceptor_gain | 0.9400 |
AlphaMissense
3598 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:28245431:A:C | F441L | 0.999 |
| 6:28245431:A:T | F441L | 0.999 |
| 6:28245433:A:G | F441L | 0.999 |
| 6:28245515:G:C | F413L | 0.999 |
| 6:28245515:G:T | F413L | 0.999 |
| 6:28245517:A:G | F413L | 0.999 |
| 6:28245599:G:C | F385L | 0.999 |
| 6:28245599:G:T | F385L | 0.999 |
| 6:28245601:A:G | F385L | 0.999 |
| 6:28245683:G:C | F357L | 0.999 |
| 6:28245683:G:T | F357L | 0.999 |
| 6:28245685:A:G | F357L | 0.999 |
| 6:28245182:G:C | F524L | 0.998 |
| 6:28245182:G:T | F524L | 0.998 |
| 6:28245184:A:G | F524L | 0.998 |
| 6:28245572:G:C | H394Q | 0.998 |
| 6:28245572:G:T | H394Q | 0.998 |
| 6:28245582:A:G | L391P | 0.998 |
| 6:28245600:A:G | F385S | 0.998 |
| 6:28245658:G:C | H366D | 0.998 |
| 6:28245767:A:C | F329L | 0.998 |
| 6:28245767:A:T | F329L | 0.998 |
| 6:28245769:A:G | F329L | 0.998 |
| 6:28245432:A:G | F441S | 0.997 |
| 6:28245574:G:C | H394D | 0.997 |
| 6:28245654:T:G | Q367P | 0.997 |
| 6:28245656:A:C | H366Q | 0.997 |
| 6:28245656:A:T | H366Q | 0.997 |
| 6:28245183:A:G | F524S | 0.996 |
| 6:28245488:A:C | H422Q | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000536019 (6:28241303 C>T), RS1000768753 (6:28248840 A>G), RS1000926885 (6:28249095 A>G), RS1000943690 (6:28256441 A>G), RS1001245941 (6:28257706 A>G), RS1001277670 (6:28255994 T>C), RS1001622637 (6:28242432 A>C), RS1001676006 (6:28258016 C>T), RS1001695204 (6:28249895 T>C), RS1001704871 (6:28250191 C>A,G), RS1001885007 (6:28248424 G>A), RS1001968701 (6:28241852 C>A,T), RS1002462807 (6:28255789 G>A), RS1002552094 (6:28244977 C>G,T), RS1002705275 (6:28260800 G>A)
Disease associations
OMIM: gene MIM:611643 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
26 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004521_112 | Autism spectrum disorder or schizophrenia | 3.000000e-26 |
| GCST004521_115 | Autism spectrum disorder or schizophrenia | 3.000000e-16 |
| GCST004521_166 | Autism spectrum disorder or schizophrenia | 4.000000e-24 |
| GCST004521_212 | Autism spectrum disorder or schizophrenia | 5.000000e-14 |
| GCST004521_22 | Autism spectrum disorder or schizophrenia | 2.000000e-11 |
| GCST004521_23 | Autism spectrum disorder or schizophrenia | 2.000000e-11 |
| GCST004521_6 | Autism spectrum disorder or schizophrenia | 2.000000e-15 |
| GCST004521_7 | Autism spectrum disorder or schizophrenia | 2.000000e-15 |
| GCST004521_73 | Autism spectrum disorder or schizophrenia | 8.000000e-11 |
| GCST004521_77 | Autism spectrum disorder or schizophrenia | 1.000000e-19 |
| GCST007201_362 | Schizophrenia | 3.000000e-23 |
| GCST008921_4 | Asthma and major depressive disorder | 2.000000e-11 |
| GCST008921_6 | Asthma and major depressive disorder | 1.000000e-09 |
| GCST009106_1 | Basal metabolic rate variance | 1.000000e-09 |
| GCST009129_1 | Basal metabolic rate | 2.000000e-09 |
| GCST010002_50 | Refractive error | 4.000000e-34 |
| GCST010142_16 | Fish- and plant-related diet | 2.000000e-10 |
| GCST010142_19 | Fish- and plant-related diet | 4.000000e-10 |
| GCST010142_34 | Fish- and plant-related diet | 7.000000e-09 |
| GCST010142_35 | Fish- and plant-related diet | 8.000000e-09 |
| GCST010142_42 | Fish- and plant-related diet | 1.000000e-08 |
| GCST010142_7 | Fish- and plant-related diet | 3.000000e-12 |
| GCST010702_75 | Subcortical volume (MOSTest) | 3.000000e-11 |
| GCST010703_272 | Brain morphology (MOSTest) | 7.000000e-16 |
| GCST90020028_834 | Hip circumference adjusted for BMI | 1.000000e-08 |
| GCST90020028_835 | Hip circumference adjusted for BMI | 2.000000e-08 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007777 | base metabolic rate measurement |
| EFO:0008111 | diet measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0008039 | BMI-adjusted hip circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Plant Extracts | affects cotreatment, increases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| bisphenol A | affects expression | 1 |
| sodium arsenite | increases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| indolo(3,2-b)carbazole | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Temozolomide | increases expression | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Tetrachlorodibenzodioxin | increases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Acrylamide | increases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Cellosaurus cell lines
3 cell lines: 3 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A8D2 | SEES3-1V human ZKSCAN4, clone1 | Embryonic stem cell | Male |
| CVCL_A8D3 | SEES3-1V human ZKSCAN4, clone2 | Embryonic stem cell | Male |
| CVCL_A8D4 | SEES3-1V human ZKSCAN4, clone3 | Embryonic stem cell | Male |
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.