ZSCAN31
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Summary
ZSCAN31 (zinc finger and SCAN domain containing 31, HGNC:14097) is a protein-coding gene on chromosome 6p22.1, encoding Zinc finger and SCAN domain-containing protein 31 (Q96LW9). May function as a transcription factor.
This gene encodes a protein containing multiple C2H2-type zinc finger motifs. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 64288 — RefSeq curated summary.
At a glance
- GWAS associations: 30
- Clinical variants (ClinVar): 42 total
- MANE Select transcript:
NM_030899
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14097 |
| Approved symbol | ZSCAN31 |
| Name | zinc finger and SCAN domain containing 31 |
| Location | 6p22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000235109 |
| Ensembl biotype | protein_coding |
| OMIM | 610794 |
| Entrez | 64288 |
Gene structure
Transcript identifiers
Ensembl transcripts: 42 — 40 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000344279, ENST00000396838, ENST00000414429, ENST00000414431, ENST00000426434, ENST00000426756, ENST00000434036, ENST00000435857, ENST00000439158, ENST00000439628, ENST00000439636, ENST00000444081, ENST00000446222, ENST00000446474, ENST00000447021, ENST00000453745, ENST00000476001, ENST00000481934, ENST00000611469, ENST00000881652, ENST00000881653, ENST00000881654, ENST00000881655, ENST00000881656, ENST00000881657, ENST00000881658, ENST00000881659, ENST00000917875, ENST00000917876, ENST00000962705, ENST00000962706, ENST00000962707, ENST00000962708, ENST00000962709, ENST00000962710, ENST00000962711, ENST00000962712, ENST00000962713, ENST00000962714, ENST00000962715, ENST00000962716, ENST00000962717
RefSeq mRNA: 8 — MANE Select: NM_030899
NM_001135215, NM_001135216, NM_001243241, NM_001243242, NM_001243243, NM_001243244, NM_030899, NM_145909
CCDS: CCDS4649, CCDS59001
Canonical transcript exons
ENST00000344279 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001715513 | 28329303 | 28329778 |
| ENSE00001813641 | 28336082 | 28336148 |
| ENSE00001975894 | 28324737 | 28326854 |
| ENSE00003660835 | 28327383 | 28327533 |
Expression profiles
Bgee: expression breadth ubiquitous, 243 present calls, max score 89.03.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.3296 / max 96.0797, expressed in 1044 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 72406 | 0.9797 | 607 |
| 72411 | 0.9300 | 366 |
| 72410 | 0.7969 | 308 |
| 72409 | 0.1893 | 98 |
| 72407 | 0.1825 | 69 |
| 72412 | 0.1194 | 51 |
| 72408 | 0.0992 | 42 |
| 72413 | 0.0326 | 12 |
Top tissues by expression
278 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 89.03 | gold quality |
| right testis | UBERON:0004534 | 89.02 | gold quality |
| testis | UBERON:0000473 | 86.90 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.79 | gold quality |
| gall bladder | UBERON:0002110 | 86.44 | gold quality |
| left ovary | UBERON:0002119 | 84.02 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.66 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 83.39 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 83.14 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 82.82 | gold quality |
| ovary | UBERON:0000992 | 82.76 | gold quality |
| islet of Langerhans | UBERON:0000006 | 82.72 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 82.43 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 82.37 | gold quality |
| lower esophagus | UBERON:0013473 | 82.36 | gold quality |
| gingiva | UBERON:0001828 | 82.07 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 82.06 | gold quality |
| right ovary | UBERON:0002118 | 81.88 | gold quality |
| thyroid gland | UBERON:0002046 | 81.60 | gold quality |
| esophagus | UBERON:0001043 | 81.30 | gold quality |
| body of uterus | UBERON:0009853 | 81.27 | gold quality |
| body of stomach | UBERON:0001161 | 81.26 | gold quality |
| gingival epithelium | UBERON:0001949 | 81.17 | gold quality |
| cerebellar cortex | UBERON:0002129 | 81.06 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 81.04 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 80.94 | gold quality |
| body of pancreas | UBERON:0001150 | 80.77 | gold quality |
| esophagus mucosa | UBERON:0002469 | 80.74 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 80.58 | gold quality |
| pancreas | UBERON:0001264 | 80.44 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.17 |
Regulation
Is transcription factor: yes
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA1722.1 | ZSCAN31 | More than 3 adjacent zinc fingers |
| MA1722.2 | ZSCAN31 | More than 3 adjacent zinc fingers |
JASPAR matrix evidence (PMIDs): PMID:27852650
miRNA regulators (miRDB)
72 targeting ZSCAN31, 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-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-9718 | 99.94 | 68.91 | 918 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-448 | 99.79 | 72.37 | 2103 |
| HSA-MIR-3150A-3P | 99.76 | 64.44 | 1640 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-4320 | 99.75 | 65.80 | 793 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-3059-5P | 99.70 | 69.93 | 2491 |
| HSA-MIR-580-3P | 99.67 | 69.23 | 1841 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-5700 | 99.64 | 69.88 | 2280 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-4524A-5P | 99.57 | 71.73 | 1193 |
Literature-anchored findings (GeneRIF, showing 4)
- role in early human embryonic development (PMID:12147252)
- ZNF323 is a schizophrenia susceptibility gene whose expression may influence schizophrenia risk. (PMID:25759474)
- ZSCAN31 hypermethylation is associated with lung cancer. (PMID:28722770)
- Functional variants fine-mapping and gene function characterization provide insights into the role of ZNF323 in schizophrenia pathogenesis. (PMID:33522098)
Cross-species orthologs
0 orthologs
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), ZSCAN25 (ENSG00000197037), ZSCAN26 (ENSG00000197062), ZNF165 (ENSG00000197279), ZKSCAN8 (ENSG00000198315), ZNF853 (ENSG00000236609)
Protein
Protein identifiers
Zinc finger and SCAN domain-containing protein 31 — Q96LW9 (reviewed: Q96LW9)
Alternative names: Zinc finger protein 323
All UniProt accessions (12): Q96LW9, C9IYT1, C9J1X2, C9J423, C9J6S7, C9JAI0, C9JBH3, C9JH14, C9JHB1, C9JIC2, C9JPM5, C9JUE1
UniProt curated annotations — full annotation on UniProt →
Function. May function as a transcription factor. May be involved in the development of multiple embryonic organs.
Subcellular location. Nucleus.
Tissue specificity. Expressed at high levels in the lung, liver, and kidney, while weakly expressed in intestine, brain, muscle, cholecyst, heart, and pancreas.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96LW9-1 | 1 | yes |
| Q96LW9-2 | 2 |
RefSeq proteins (8): NP_001128687, NP_001128688, NP_001230170, NP_001230171, NP_001230172, NP_001230173, NP_112161, NP_665916 (=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 |
Pfam: PF00096, PF02023
UniProt features (23 total): cross-link 7, zinc finger region 6, sequence variant 5, sequence conflict 2, chain 1, domain 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96LW9-F1 | 67.96 | 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 (7): 191, 205, 215, 250, 358, 14, 149
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 97 (showing top):
KOBAYASHI_EGFR_SIGNALING_24HR_UP, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, ELK1_01, KIM_WT1_TARGETS_12HR_UP, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, DODD_NASOPHARYNGEAL_CARCINOMA_DN, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_GREY_UP, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN, VERHAAK_GLIOBLASTOMA_NEURAL, CHEMNITZ_RESPONSE_TO_PROSTAGLANDIN_E2_DN, ATF2_UP.V1_DN, NOTCH_DN.V1_UP, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, CAVIN1_TARGET_GENES, CBX5_TARGET_GENES
GO Biological Process (1): regulation of transcription by RNA polymerase II (GO:0006357)
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), sequence-specific double-stranded DNA binding (GO:1990837), 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 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
488 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZSCAN31 | NKAPL | Q5M9Q1 | 512 |
| ZSCAN31 | CCDC38 | Q502W7 | 444 |
| ZSCAN31 | ARMC2 | Q8NEN0 | 375 |
| ZSCAN31 | C3orf62 | Q6ZUJ4 | 374 |
| ZSCAN31 | AS3MT | Q9HBK9 | 368 |
| ZSCAN31 | KNCN | A6PVL3 | 357 |
| ZSCAN31 | GSTCD | Q8NEC7 | 350 |
| ZSCAN31 | TSPAN18 | Q96SJ8 | 348 |
| ZSCAN31 | BEND4 | Q6ZU67 | 336 |
| ZSCAN31 | OR1C1 | Q15619 | 328 |
| ZSCAN31 | GLT8D1 | Q68CQ7 | 325 |
| ZSCAN31 | ZNF804A | Q7Z570 | 324 |
| ZSCAN31 | SPATA9 | Q9BWV2 | 323 |
| ZSCAN31 | MPV17L | Q2QL34 | 323 |
| ZSCAN31 | H3BMD7 | H3BMD7 | 310 |
IntAct
7 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZSCAN31 | DHX57 | psi-mi:“MI:0914”(association) | 0.530 |
| CCL1 | ZSCAN31 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DDIT3 | ZSCAN31 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZSCAN31 | PDCD11 | psi-mi:“MI:0914”(association) | 0.350 |
| ZSCAN31 | IPO8 | psi-mi:“MI:0914”(association) | 0.350 |
| TGIF2 | ZNF213 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (27): MTMR4 (Affinity Capture-MS), PIP5K1A (Affinity Capture-MS), CDKN2AIP (Affinity Capture-MS), DHX57 (Affinity Capture-MS), THAP11 (Affinity Capture-MS), LENG8 (Affinity Capture-MS), RPL26L1 (Affinity Capture-MS), TRMT1L (Affinity Capture-MS), YTHDC2 (Affinity Capture-MS), PDCD11 (Affinity Capture-MS), BBX (Affinity Capture-MS), DHX57 (Affinity Capture-MS), PIP5K1A (Affinity Capture-MS), MTMR4 (Affinity Capture-MS), LENG8 (Affinity Capture-MS)
ESM2 similar proteins: A1YEP8, A1YEV9, A1YFW2, A1YG26, A1YG48, A1YG60, A2T6E3, A2T6V8, A2T712, A2T736, A2T7D2, A2T7F4, A2T7L7, A2T812, A6QNZ0, O14709, O15535, O43296, O43309, P10073, P17023, P17097, P49910, Q07231, Q12901, Q15776, Q16670, Q1LZ87, Q3MJ62, Q53GI3, Q571J5, Q5JNZ3, Q5RAE6, Q5RBX0, Q5RCD9, Q5RJ54, Q7Z7L9, Q86W11, Q8IZ26, Q8NF99
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.
Disease & clinical
Clinical variants and AI predictions
ClinVar
42 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 33 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1387 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:28326851:CCAT:C | acceptor_gain | 1.0000 |
| 6:28326852:CAT:C | acceptor_gain | 1.0000 |
| 6:28326852:CATC:C | acceptor_gain | 1.0000 |
| 6:28326854:TCTGG:T | acceptor_loss | 1.0000 |
| 6:28326855:C:CC | acceptor_gain | 1.0000 |
| 6:28327379:TTA:T | donor_loss | 1.0000 |
| 6:28327380:TA:T | donor_loss | 1.0000 |
| 6:28327381:A:AC | donor_gain | 1.0000 |
| 6:28327381:ACC:A | donor_loss | 1.0000 |
| 6:28327382:C:CC | donor_gain | 1.0000 |
| 6:28327420:T:C | donor_gain | 1.0000 |
| 6:28327530:GAGCC:G | acceptor_gain | 1.0000 |
| 6:28327531:AGC:A | acceptor_gain | 1.0000 |
| 6:28327531:AGCC:A | acceptor_gain | 1.0000 |
| 6:28327532:GC:G | acceptor_gain | 1.0000 |
| 6:28327532:GCC:G | acceptor_gain | 1.0000 |
| 6:28327533:CC:C | acceptor_gain | 1.0000 |
| 6:28327533:CCT:C | acceptor_gain | 1.0000 |
| 6:28327534:C:CC | acceptor_gain | 1.0000 |
| 6:28327542:A:T | acceptor_gain | 1.0000 |
| 6:28350864:GCTT:G | donor_gain | 1.0000 |
| 6:28327381:AC:A | donor_gain | 0.9900 |
| 6:28327382:CC:C | donor_gain | 0.9900 |
| 6:28327382:CCTTG:C | donor_gain | 0.9900 |
| 6:28327529:GGAGC:G | acceptor_gain | 0.9900 |
| 6:28327530:GAGC:G | acceptor_gain | 0.9900 |
| 6:28327534:C:CA | acceptor_gain | 0.9900 |
| 6:28327534:C:T | acceptor_gain | 0.9900 |
| 6:28327535:T:C | acceptor_gain | 0.9900 |
| 6:28327541:CAGG:C | acceptor_gain | 0.9900 |
AlphaMissense
2697 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:28326475:G:C | F304L | 0.998 |
| 6:28326475:G:T | F304L | 0.998 |
| 6:28326477:A:G | F304L | 0.998 |
| 6:28326559:G:C | F276L | 0.998 |
| 6:28326559:G:T | F276L | 0.998 |
| 6:28326561:A:G | F276L | 0.998 |
| 6:28326307:G:C | F360L | 0.995 |
| 6:28326307:G:T | F360L | 0.995 |
| 6:28326309:A:G | F360L | 0.995 |
| 6:28326391:G:C | F332L | 0.995 |
| 6:28326391:G:T | F332L | 0.995 |
| 6:28326393:A:G | F332L | 0.995 |
| 6:28326643:G:C | F248L | 0.995 |
| 6:28326643:G:T | F248L | 0.995 |
| 6:28326645:A:G | F248L | 0.995 |
| 6:28326280:A:C | H369Q | 0.993 |
| 6:28326280:A:T | H369Q | 0.993 |
| 6:28326364:A:C | H341Q | 0.992 |
| 6:28326364:A:T | H341Q | 0.992 |
| 6:28326436:G:C | H317Q | 0.991 |
| 6:28326436:G:T | H317Q | 0.991 |
| 6:28326450:G:C | H313D | 0.991 |
| 6:28326520:G:C | H289Q | 0.991 |
| 6:28326520:G:T | H289Q | 0.991 |
| 6:28326527:C:G | R287P | 0.991 |
| 6:28326604:G:C | H261Q | 0.991 |
| 6:28326604:G:T | H261Q | 0.991 |
| 6:28326223:A:C | F388L | 0.990 |
| 6:28326223:A:T | F388L | 0.990 |
| 6:28326225:A:G | F388L | 0.990 |
dbSNP variants (sampled 300 via entrez): RS1000006131 (6:28344466 C>G), RS1000103709 (6:28354337 G>A), RS1000153942 (6:28330643 A>T), RS1000194106 (6:28330940 A>C), RS1000224610 (6:28331033 A>G), RS1000327745 (6:28346646 G>A), RS1000374837 (6:28338925 C>T), RS1000579281 (6:28333416 C>T), RS1000612277 (6:28346156 T>G), RS1000649330 (6:28331481 T>C), RS1000934909 (6:28332924 A>C), RS1001349275 (6:28327248 T>C), RS1001504420 (6:28356306 T>C), RS1001555425 (6:28348272 A>G), RS1001681080 (6:28354299 T>C)
Disease associations
OMIM: gene MIM:610794 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
30 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001251_11 | Pulmonary function | 2.000000e-10 |
| GCST003997_12 | Myopia | 1.000000e-12 |
| 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_23 | Autism spectrum disorder or schizophrenia | 2.000000e-11 |
| GCST004521_43 | Autism spectrum disorder or schizophrenia | 2.000000e-27 |
| 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 |
| GCST004748_92 | Lung cancer | 2.000000e-12 |
| GCST004749_74 | Lung cancer in ever smokers | 7.000000e-10 |
| GCST004946_75 | Schizophrenia | 5.000000e-36 |
| GCST007559_16 | Sleep duration (short sleep) | 4.000000e-09 |
| GCST008921_4 | Asthma and major depressive disorder | 2.000000e-11 |
| GCST008921_6 | Asthma and major depressive disorder | 1.000000e-09 |
| GCST008972_17 | Urate levels | 7.000000e-15 |
| GCST009600_116 | Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) | 1.000000e-27 |
| 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 |
| GCST010204_199 | Low density lipoprotein cholesterol levels | 4.000000e-16 |
| GCST010702_75 | Subcortical volume (MOSTest) | 3.000000e-11 |
| GCST010703_272 | Brain morphology (MOSTest) | 7.000000e-16 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003892 | pulmonary function measurement |
| EFO:0004314 | forced expiratory volume |
| EFO:0004531 | urate measurement |
| EFO:0008111 | diet measurement |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
54 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, affects cotreatment, decreases expression | 8 |
| sodium arsenite | affects expression, affects splicing, increases expression | 3 |
| trichostatin A | decreases expression, affects expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Cadmium Chloride | increases expression | 2 |
| p-Chloromercuribenzoic Acid | decreases expression, affects cotreatment | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| sotorasib | affects cotreatment, increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| geraniol | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | increases expression, affects response to substance | 1 |
| pentanal | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| trametinib | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| NVP-BKM120 | increases expression, affects cotreatment | 1 |
| Irinotecan | decreases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
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): anorexia nervosa, attention deficit-hyperactivity disorder, lung carcinoma, obsessive-compulsive disorder