PCDH18
geneOn this page
Also known as KIAA1562PCDH68L
Summary
PCDH18 (protocadherin 18, HGNC:14268) is a protein-coding gene on chromosome 4q28.3, encoding Protocadherin-18 (Q9HCL0). Potential calcium-dependent cell-adhesion protein.
This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain.
Source: NCBI Gene 54510 — RefSeq curated summary.
At a glance
- GWAS associations: 16
- Clinical variants (ClinVar): 148 total
- MANE Select transcript:
NM_019035
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14268 |
| Approved symbol | PCDH18 |
| Name | protocadherin 18 |
| Location | 4q28.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1562, PCDH68L |
| Ensembl gene | ENSG00000189184 |
| Ensembl biotype | protein_coding |
| OMIM | 608287 |
| Entrez | 54510 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 6 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000344876, ENST00000412923, ENST00000507846, ENST00000510305, ENST00000511115, ENST00000611581, ENST00000617302, ENST00000620262
RefSeq mRNA: 2 — MANE Select: NM_019035
NM_001300828, NM_019035
CCDS: CCDS34064, CCDS75193
Canonical transcript exons
ENST00000344876 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001365509 | 137528732 | 137528820 |
| ENSE00001373644 | 137518918 | 137521696 |
| ENSE00001376125 | 137529602 | 137532494 |
| ENSE00001378073 | 137528478 | 137528641 |
Expression profiles
Bgee: expression breadth ubiquitous, 238 present calls, max score 97.69.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.7964 / max 1263.1084, expressed in 1041 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 53983 | 29.4759 | 1037 |
| 53982 | 0.9690 | 358 |
| 203342 | 0.1307 | 45 |
| 53981 | 0.1273 | 53 |
| 53979 | 0.0619 | 21 |
| 53980 | 0.0316 | 13 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 97.69 | gold quality |
| calcaneal tendon | UBERON:0003701 | 95.86 | gold quality |
| parietal pleura | UBERON:0002400 | 95.72 | gold quality |
| mammary duct | UBERON:0001765 | 95.17 | gold quality |
| ileal mucosa | UBERON:0000331 | 95.11 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 94.99 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 94.87 | gold quality |
| tibia | UBERON:0000979 | 94.75 | gold quality |
| endometrium | UBERON:0001295 | 94.31 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 93.27 | gold quality |
| mammary gland | UBERON:0001911 | 93.14 | gold quality |
| placenta | UBERON:0001987 | 93.08 | gold quality |
| skin of hip | UBERON:0001554 | 93.05 | gold quality |
| visceral pleura | UBERON:0002401 | 92.90 | gold quality |
| cauda epididymis | UBERON:0004360 | 92.06 | gold quality |
| colonic epithelium | UBERON:0000397 | 92.03 | gold quality |
| tibialis anterior | UBERON:0001385 | 91.51 | silver quality |
| endothelial cell | CL:0000115 | 91.24 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 90.21 | gold quality |
| urethra | UBERON:0000057 | 90.18 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 90.10 | gold quality |
| tendon | UBERON:0000043 | 89.84 | gold quality |
| gall bladder | UBERON:0002110 | 89.76 | gold quality |
| uterus | UBERON:0000995 | 89.65 | gold quality |
| seminal vesicle | UBERON:0000998 | 89.39 | gold quality |
| synovial joint | UBERON:0002217 | 89.04 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 88.51 | gold quality |
| adrenal tissue | UBERON:0018303 | 88.09 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 88.06 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 87.81 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-30 | yes | 99.18 |
| E-HCAD-10 | yes | 57.81 |
| E-ANND-3 | yes | 20.51 |
| E-CURD-112 | yes | 9.07 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
125 targeting PCDH18, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
Literature-anchored findings (GeneRIF, showing 2)
- A homozygous PCDH18 missense mutation (S1006L)from familial hemophagocytic lymphohistiocytosis type 2 patient destabilized the protein structure. (PMID:26739415)
- Our results suggested that PCDH18 was a putative tumor suppressor with epigenetic silencing in colorectal cancer and a potential biomarker for colorectal cancer diagnosis. (PMID:28588296)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pcdh18b | ENSDARG00000052494 |
| danio_rerio | pcdh18a | ENSDARG00000089805 |
| mus_musculus | Pcdh18 | ENSMUSG00000037892 |
| rattus_norvegicus | Pcdh18 | ENSRNOG00000009949 |
Paralogs (61): PCDHB4 (ENSG00000081818), PCDHA6 (ENSG00000081842), PCDHGA2 (ENSG00000081853), PCDHB2 (ENSG00000112852), PCDHB3 (ENSG00000113205), PCDHB5 (ENSG00000113209), PCDHB6 (ENSG00000113211), PCDHB7 (ENSG00000113212), PCDHB15 (ENSG00000113248), PCDH12 (ENSG00000113555), PCDH17 (ENSG00000118946), PCDHB8 (ENSG00000120322), PCDHB10 (ENSG00000120324), PCDHB14 (ENSG00000120327), PCDHB12 (ENSG00000120328), PCDH8 (ENSG00000136099), PCDH10 (ENSG00000138650), PCDH15 (ENSG00000150275), PCDH19 (ENSG00000165194), CDH16 (ENSG00000166589), PCDHB1 (ENSG00000171815), PCDHB9 (ENSG00000177839), PCDHB13 (ENSG00000187372), CDHR4 (ENSG00000187492), PCDHB11 (ENSG00000197479), PCDHGA1 (ENSG00000204956), PCDHA9 (ENSG00000204961), PCDHA8 (ENSG00000204962), PCDHA7 (ENSG00000204963), PCDHA5 (ENSG00000204965), PCDHA4 (ENSG00000204967), PCDHA2 (ENSG00000204969), PCDHA1 (ENSG00000204970), PCDHA13 (ENSG00000239389), PCDHGC3 (ENSG00000240184), PCDHGC5 (ENSG00000240764), PCDHGC4 (ENSG00000242419), PCDHAC2 (ENSG00000243232), PCDHAC1 (ENSG00000248383), PCDHA11 (ENSG00000249158)
Protein
Protein identifiers
Protocadherin-18 — Q9HCL0 (reviewed: Q9HCL0)
All UniProt accessions (5): A0A087WTW3, B4DLR6, Q9HCL0, B4DQ29, D6RIG4
UniProt curated annotations — full annotation on UniProt →
Function. Potential calcium-dependent cell-adhesion protein.
Subunit / interactions. Interacts with DAB1.
Subcellular location. Cell membrane.
Tissue specificity. Expressed in all tissues, with highest expression in lung and ovary.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9HCL0-1 | 1 | yes |
| Q9HCL0-2 | 2 |
RefSeq proteins (2): NP_001287757, NP_061908* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002126 | Cadherin-like_dom | Domain |
| IPR013164 | Cadherin_N | Domain |
| IPR015919 | Cadherin-like_sf | Homologous_superfamily |
| IPR020894 | Cadherin_CS | Conserved_site |
| IPR050174 | Protocadherin/Cadherin-CA | Family |
Pfam: PF00028, PF08266
UniProt features (69 total): strand 30, helix 8, domain 6, glycosylation site 6, region of interest 5, turn 5, compositionally biased region 3, topological domain 2, signal peptide 1, chain 1, splice variant 1, transmembrane region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6VFR | X-RAY DIFFRACTION | 2.79 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HCL0-F1 | 68.89 | 0.39 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (6): 103, 269, 420, 559, 583, 641
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 143 (showing top):
FREAC2_01, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, RORA1_01, ROVERSI_GLIOMA_COPY_NUMBER_UP, CHX10_01, AAAYRNCTG_UNKNOWN, CHANDRAN_METASTASIS_DN, CAGCTG_AP4_Q5, SHEPARD_BMYB_MORPHOLINO_DN, GOBP_CELL_CELL_ADHESION, BRN2_01, TGCTGAY_UNKNOWN, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN
GO Biological Process (3): cell adhesion (GO:0007155), homophilic cell-cell adhesion (GO:0007156), brain development (GO:0007420)
GO Molecular Function (3): calcium ion binding (GO:0005509), cell adhesion molecule binding (GO:0050839), protein binding (GO:0005515)
GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular process | 1 |
| cell-cell adhesion | 1 |
| central nervous system development | 1 |
| animal organ development | 1 |
| head development | 1 |
| metal ion binding | 1 |
| protein binding | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
882 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PCDH18 | DIPK2A | Q8NDZ4 | 762 |
| PCDH18 | LYSMD3 | Q7Z3D4 | 458 |
| PCDH18 | PKHD1 | P08F94 | 437 |
| PCDH18 | TM4SF1 | P30408 | 424 |
| PCDH18 | SIX1 | Q15475 | 412 |
| PCDH18 | KLK2 | P20151 | 409 |
| PCDH18 | NKX3-1 | Q99801 | 401 |
| PCDH18 | LPAR1 | P78351 | 400 |
| PCDH18 | LCK | P06239 | 399 |
| PCDH18 | MDM4 | O15151 | 396 |
| PCDH18 | KLK3 | P07288 | 389 |
| PCDH18 | RNASEL | Q05823 | 377 |
| PCDH18 | TGFBR2 | P37173 | 376 |
| PCDH18 | SCN1A | P35498 | 373 |
| PCDH18 | FGFR1 | P11362 | 373 |
IntAct
26 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BRK1 | CYFIP1 | psi-mi:“MI:0914”(association) | 0.640 |
| PCDH18 | UBQLN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PCDHGB1 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.530 |
| PCDH18 | HNRNPL | psi-mi:“MI:0915”(physical association) | 0.400 |
| HAX1 | psi-mi:“MI:0914”(association) | 0.350 | |
| TEX101 | MAP4K4 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG5 | IGKV1-5 | psi-mi:“MI:0914”(association) | 0.350 |
| CACNA1C | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
| CACNA1C | CACNB4 | psi-mi:“MI:0914”(association) | 0.350 |
| CACNA1C | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.350 |
| CACNA1C | DISP2 | psi-mi:“MI:0914”(association) | 0.350 |
| HCN1 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| SPSB4 | CCDC85C | psi-mi:“MI:0914”(association) | 0.350 |
| RYK | TNFRSF10B | psi-mi:“MI:0914”(association) | 0.350 |
| CDH17 | TNFSF9 | psi-mi:“MI:0914”(association) | 0.350 |
| PCDH10 | SHMT1 | psi-mi:“MI:0914”(association) | 0.350 |
| PCDH20 | CAPN5 | psi-mi:“MI:0914”(association) | 0.350 |
| UPK2 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| PCDH18 | UBQLN1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| UBQLN1 | PCDH18 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (27): PCDH18 (Affinity Capture-MS), PCDH18 (Proximity Label-MS), PCDH18 (Synthetic Lethality), PCDH18 (Affinity Capture-MS), PCDH18 (Two-hybrid), PCDH18 (Proximity Label-MS), PCDH18 (Affinity Capture-MS), PCDH18 (Affinity Capture-MS), PCDH18 (Affinity Capture-MS), PCDH18 (Affinity Capture-MS), PCDH18 (Affinity Capture-MS), PCDH18 (Affinity Capture-MS), PCDH18 (Affinity Capture-MS), PCDH18 (Proximity Label-MS), PCDH18 (Affinity Capture-MS)
ESM2 similar proteins: A7MB46, F8W3X3, O14917, O35902, O54800, O97799, P05622, P16234, P20786, P26618, P26619, P32926, P35546, P55286, P55289, P79749, P97291, Q05030, Q08DJ5, Q13634, Q14126, Q28889, Q5RJH3, Q68SP4, Q6KEQ9, Q6W3B0, Q6WXV7, Q6WYY1, Q6X862, Q71M42, Q7TMD7, Q7TSF0, Q7YRU7, Q80TF3, Q86SJ6, Q8AXC6, Q8AXC7, Q8BIZ0, Q8N6Y1, Q8TAB3
Diamond homologs: A7MB46, D3ZE55, F8W3X3, O14917, O55134, O60330, O88689, O95206, Q5DRA2, Q5DRA3, Q5DRA4, Q5DRA5, Q5DRA6, Q5DRA7, Q5DRA8, Q5DRA9, Q5DRB0, Q5DRB1, Q5DRB2, Q5DRB3, Q5DRB4, Q5DRB5, Q5DRB6, Q5DRB7, Q5DRB8, Q5DRB9, Q5DRC0, Q5DRC1, Q5DRC2, Q5DRC6, Q5DRD3, Q5DRD6, Q5DRE0, Q5DRE1, Q5DRE3, Q5DRE4, Q5DRE5, Q5DRE6, Q5DRE7, Q5DRE8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
148 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 137 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
614 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:137528473:CTTA:C | donor_loss | 1.0000 |
| 4:137528474:TTA:T | donor_loss | 1.0000 |
| 4:137528475:TA:T | donor_loss | 1.0000 |
| 4:137528476:A:AC | donor_gain | 1.0000 |
| 4:137528476:A:C | donor_loss | 1.0000 |
| 4:137528477:C:CA | donor_loss | 1.0000 |
| 4:137528477:C:CC | donor_gain | 1.0000 |
| 4:137528477:CCTG:C | donor_gain | 1.0000 |
| 4:137528637:CATAT:C | acceptor_gain | 1.0000 |
| 4:137528638:ATAT:A | acceptor_gain | 1.0000 |
| 4:137528639:TAT:T | acceptor_gain | 1.0000 |
| 4:137528639:TATC:T | acceptor_loss | 1.0000 |
| 4:137528640:AT:A | acceptor_gain | 1.0000 |
| 4:137528641:TCTGG:T | acceptor_loss | 1.0000 |
| 4:137528642:C:CC | acceptor_gain | 1.0000 |
| 4:137528642:C:CG | acceptor_loss | 1.0000 |
| 4:137528643:T:A | acceptor_loss | 1.0000 |
| 4:137528650:A:AC | acceptor_gain | 1.0000 |
| 4:137528650:A:C | acceptor_gain | 1.0000 |
| 4:137528656:C:CT | acceptor_gain | 1.0000 |
| 4:137528726:TCATA:T | donor_loss | 1.0000 |
| 4:137528727:CATA:C | donor_loss | 1.0000 |
| 4:137528728:ATAC:A | donor_loss | 1.0000 |
| 4:137528729:TACC:T | donor_loss | 1.0000 |
| 4:137528731:C:CG | donor_loss | 1.0000 |
| 4:137528818:CTG:C | acceptor_gain | 1.0000 |
| 4:137529598:TTAC:T | donor_loss | 1.0000 |
| 4:137529599:TA:T | donor_loss | 1.0000 |
| 4:137529600:ACCTC:A | donor_loss | 1.0000 |
| 4:137528640:ATCT:A | acceptor_gain | 0.9900 |
AlphaMissense
7537 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:137531358:G:T | P244H | 1.000 |
| 4:137531367:T:A | D241V | 1.000 |
| 4:137531367:T:G | D241A | 1.000 |
| 4:137531436:G:T | A218D | 1.000 |
| 4:137531472:C:G | R206P | 1.000 |
| 4:137531694:T:G | D132A | 1.000 |
| 4:137521054:A:G | L1128P | 0.999 |
| 4:137521644:G:C | C931W | 0.999 |
| 4:137521645:C:G | C931S | 0.999 |
| 4:137521646:A:G | C931R | 0.999 |
| 4:137521646:A:T | C931S | 0.999 |
| 4:137521672:C:G | C922S | 0.999 |
| 4:137521673:A:G | C922R | 0.999 |
| 4:137521673:A:T | C922S | 0.999 |
| 4:137530731:A:T | V453D | 0.999 |
| 4:137530951:C:G | A380P | 0.999 |
| 4:137531269:C:G | D274H | 0.999 |
| 4:137531274:T:C | D272G | 0.999 |
| 4:137531274:T:G | D272A | 0.999 |
| 4:137531275:C:G | D272H | 0.999 |
| 4:137531280:G:T | A270D | 0.999 |
| 4:137531366:G:C | D241E | 0.999 |
| 4:137531366:G:T | D241E | 0.999 |
| 4:137531367:T:C | D241G | 0.999 |
| 4:137531368:C:G | D241H | 0.999 |
| 4:137531369:A:C | N240K | 0.999 |
| 4:137531369:A:T | N240K | 0.999 |
| 4:137531370:T:A | N240I | 0.999 |
| 4:137531375:G:C | D238E | 0.999 |
| 4:137531375:G:T | D238E | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000030683 (4:137519356 T>A), RS1000046391 (4:137522412 G>A), RS1000078640 (4:137523951 A>C), RS1000271264 (4:137528740 C>A,T), RS10004843 (4:137523207 C>G,T), RS10006580 (4:137528658 C>A,G,T), RS1000845548 (4:137528969 C>A,T), RS10010962 (4:137524975 C>A,G), RS1001106512 (4:137522506 C>A), RS1001361633 (4:137528697 T>C), RS1001706073 (4:137532246 T>C), RS1001726808 (4:137533749 C>T), RS10018837 (4:137528529 A>G), RS1001961231 (4:137527274 T>C), RS1002000071 (4:137533595 T>C)
Disease associations
OMIM: gene MIM:608287 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
16 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001531_7 | Temperament | 2.000000e-06 |
| GCST001762_942 | Obesity-related traits | 8.000000e-07 |
| GCST001854_2 | Retinopathy in non-diabetics | 5.000000e-06 |
| GCST002034_3 | Adverse response to radiation therapy | 1.000000e-06 |
| GCST002826_11 | Urate levels (BMI interaction) | 9.000000e-07 |
| GCST002938_36 | Copper levels | 7.000000e-06 |
| GCST004703_4 | Obsessive-compulsive disorder or autism spectrum disorder | 4.000000e-06 |
| GCST004735_31 | Epstein-Barr virus copy number in lymphoblastoid cell lines | 1.000000e-06 |
| GCST004824_8 | P wave terminal force | 3.000000e-09 |
| GCST007927_17 | Medication use (beta blocking agents) | 1.000000e-09 |
| GCST007930_49 | Medication use (agents acting on the renin-angiotensin system) | 4.000000e-09 |
| GCST009363_49 | Triglyceride levels x short total sleep time interaction (2df test) | 1.000000e-09 |
| GCST010002_15 | Refractive error | 5.000000e-11 |
| GCST010774_20 | Essential hypertension (time to event) | 4.000000e-08 |
| GCST010988_78 | Adult body size | 3.000000e-17 |
| GCST010989_245 | Body size at age 10 | 6.000000e-10 |
EFO canonical traits (10, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004825 | temperament and character inventory |
| EFO:0003939 | energy intake |
| EFO:0004340 | body mass index |
| EFO:0004531 | urate measurement |
| EFO:0008379 | P wave terminal force measurement |
| EFO:0009929 | Beta blocking agent use measurement |
| EFO:0009931 | Agents acting on the renin-angiotensin system use measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0004918 | age at diagnosis |
| EFO:0009819 | comparative body size at age 10, self-reported |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
53 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression | 5 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| sodium arsenite | increases abundance, decreases expression | 3 |
| Air Pollutants | increases expression, decreases expression, affects cotreatment, increases abundance | 3 |
| Estradiol | affects cotreatment, decreases expression | 3 |
| Particulate Matter | decreases expression, increases abundance | 3 |
| bisphenol A | decreases methylation, increases expression | 2 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, decreases expression | 2 |
| mercuric bromide | decreases expression, affects cotreatment | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Aflatoxin B1 | decreases expression, decreases methylation | 2 |
| p-Chloromercuribenzoic Acid | decreases expression, affects cotreatment | 2 |
| bisphenol F | affects cotreatment, increases methylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| alpha-pinene | affects cotreatment, increases expression, increases abundance | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| methacrylaldehyde | increases expression, increases abundance, affects cotreatment | 1 |
| diallyl trisulfide | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| epigallocatechin gallate | increases expression, affects cotreatment, decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| pentabromodiphenyl ether | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| incobotulinumtoxinA | 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): Epstein-Barr virus infection, essential hypertension, obsessive-compulsive disorder, retinal disorder