PCDH8
gene geneOn this page
Also known as PAPCARCADLIN
Summary
PCDH8 (protocadherin 8, HGNC:8660) is a protein-coding gene on chromosome 13q14.3, encoding Protocadherin-8 (O95206). Calcium-dependent cell-adhesion protein.
This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes an integral membrane protein that is thought to function in cell adhesion in a CNS-specific manner. Unlike classical cadherins, which are generally encoded by 15-17 exons, this gene includes only 3 exons. Notable is the large first exon encoding the extracellular region, including 6 cadherin domains and a transmembrane region. Alternative splicing yields isoforms with unique cytoplasmic tails.
Source: NCBI Gene 5100 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 177 total — 1 pathogenic
- MANE Select transcript:
NM_002590
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8660 |
| Approved symbol | PCDH8 |
| Name | protocadherin 8 |
| Location | 13q14.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PAPC, ARCADLIN |
| Ensembl gene | ENSG00000136099 |
| Ensembl biotype | protein_coding |
| OMIM | 603580 |
| Entrez | 5100 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 retained_intron
ENST00000338862, ENST00000377942, ENST00000613548
RefSeq mRNA: 2 — MANE Select: NM_002590
NM_002590, NM_032949
CCDS: CCDS9438, CCDS9439
Canonical transcript exons
ENST00000377942 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000836988 | 52845425 | 52845632 |
| ENSE00001475589 | 52845806 | 52848640 |
| ENSE00001932872 | 52842889 | 52844933 |
Expression profiles
Bgee: expression breadth ubiquitous, 149 present calls, max score 97.40.
FANTOM5 (CAGE): breadth broad, TPM avg 3.0570 / max 147.3356, expressed in 315 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 137433 | 3.0570 | 315 |
Top tissues by expression
274 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| Brodmann (1909) area 23 | UBERON:0013554 | 97.40 | gold quality |
| frontal pole | UBERON:0002795 | 92.15 | gold quality |
| endothelial cell | CL:0000115 | 91.85 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 91.40 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 89.95 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 88.66 | gold quality |
| primary visual cortex | UBERON:0002436 | 88.54 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 87.55 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 87.43 | gold quality |
| nucleus accumbens | UBERON:0001882 | 86.90 | gold quality |
| prefrontal cortex | UBERON:0000451 | 86.78 | gold quality |
| frontal cortex | UBERON:0001870 | 86.44 | gold quality |
| neocortex | UBERON:0001950 | 86.25 | gold quality |
| cingulate cortex | UBERON:0003027 | 86.25 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 86.19 | gold quality |
| cerebral cortex | UBERON:0000956 | 86.10 | gold quality |
| occipital lobe | UBERON:0002021 | 85.80 | gold quality |
| caudate nucleus | UBERON:0001873 | 85.31 | gold quality |
| right frontal lobe | UBERON:0002810 | 84.98 | gold quality |
| telencephalon | UBERON:0001893 | 84.46 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 84.07 | gold quality |
| parietal lobe | UBERON:0001872 | 83.82 | gold quality |
| Ammon’s horn | UBERON:0001954 | 83.52 | gold quality |
| entorhinal cortex | UBERON:0002728 | 83.37 | gold quality |
| postcentral gyrus | UBERON:0002581 | 83.30 | gold quality |
| ganglionic eminence | UBERON:0004023 | 83.23 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 82.63 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 82.63 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 82.12 | gold quality |
| forebrain | UBERON:0001890 | 81.97 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.12 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MESP2, STAT3
miRNA regulators (miRDB)
98 targeting PCDH8, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
Literature-anchored findings (GeneRIF, showing 15)
- These results suggest that any contribution of PCDH8 polymorphisms to schizophrenia susceptibility is likely to be weak, although the existence of rare variations of stronger effect cannot be excluded. (PMID:12884975)
- Loss of PCDH8 promotes oncogenesis in epithelial human cancers by disrupting cell-cell communication dedicated to tissue organization and repression of mitogenic signaling. (PMID:18408767)
- Frequently inactivation by promoter methylation of Protocadherin8 is associated with nasopharyngeal carcinoma. (PMID:22273848)
- Loss of the PCDH8 gene is one of the probable causes of psychomotor delay in RB1-deleted patients. (PMID:22909775)
- study demonstrates the epigenetic inactivation of PCDH8 by promoter methylation and its tumor suppressor function in gastric cancer (PMID:22941331)
- PCDH8 methylation may be a useful biomarker to predict the progression of clear cell renal cell carcinoma. (PMID:25416427)
- Promoter methylation of protocadherin8 is a frequent event in prostate cancer, and might be used as an independent prognostic factor for biochemical recurrence-free survival in patients with prostate cancer. (PMID:25486497)
- PCDH8 methylation may be associated with tumor progression and poor prognosis in non-muscle invasive bladder cancer. (PMID:25927589)
- The methylation of PCDH8 in serum is a potential predictive marker for prostate cancer patients with low Gleason score. (PMID:29026066)
- Protocadherin-8 might be considered as a candidate tumor suppressor and play a crucial role in the progression of Ovarian cancer. (PMID:29324532)
- Study showed that high expression of PCDH8 was significantly correlated with poorer prognosis in gastric cancer (GC). Its ectopic expression in GC cells promoted invasion, migration and, metastasis; on the contrary, its knockdown inhibited invasion and migration of GC cell lines through LAMC2 regulation. (PMID:29325230)
- Serum downregulated miR-940 may serve as a reliable diagnostic and prognostic biomarker in breast cancer patients. (PMID:29865037)
- Protocadherin 8 (PCDH8) Inhibits Proliferation, Migration, Invasion, and Angiogenesis in Esophageal Squamous Cell Carcinoma. (PMID:32330123)
- PCDH8 participates in the growth process of colorectal cancer cells by regulating the AKT/GSK3beta/beta-catenin signaling pathway. (PMID:35907345)
- PCDH8 is a novel prognostic biomarker in thyroid cancer and promotes cell proliferation and viability. (PMID:38368303)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | PCDH8 | ENSDARG00000102185 |
| mus_musculus | Pcdh8 | ENSMUSG00000036422 |
| rattus_norvegicus | Pcdh8 | ENSRNOG00000013101 |
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), PCDH10 (ENSG00000138650), PCDH15 (ENSG00000150275), PCDH19 (ENSG00000165194), CDH16 (ENSG00000166589), PCDHB1 (ENSG00000171815), PCDHB9 (ENSG00000177839), PCDHB13 (ENSG00000187372), CDHR4 (ENSG00000187492), PCDH18 (ENSG00000189184), 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-8 — O95206 (reviewed: O95206)
Alternative names: Arcadlin
All UniProt accessions (1): O95206
UniProt curated annotations — full annotation on UniProt →
Function. Calcium-dependent cell-adhesion protein. May play a role in activity-induced synaptic reorganization underlying long term memory. Could be involved in CDH2 internalization through TAOK2/p38 MAPK pathway. In hippocampal neurons, may play a role in the down-regulation of dendritic spines, maybe through its action on CDH2 endocytosis.
Subunit / interactions. The N-terminal extracellular domain forms homophilic interactions; these interactions activate p38 MAPK via TAOK2 and trigger endocytosis. Interacts with CDH2; this interaction may lead to CDH2 cointernalization. Interacts with CDH11. Interacts with TAOK2.
Subcellular location. Cell membrane. Cell projection. Dendrite. Presynaptic cell membrane. Postsynaptic cell membrane.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O95206-1 | 1 | yes |
| O95206-2 | 2 |
RefSeq proteins (2): NP_002581, NP_116567 (=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 (57 total): strand 18, domain 6, region of interest 5, sequence variant 5, compositionally biased region 4, turn 4, glycosylation site 3, helix 3, topological domain 2, sequence conflict 2, signal peptide 1, chain 1, modified residue 1, splice variant 1, transmembrane region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6VFV | X-RAY DIFFRACTION | 2.9 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95206-F1 | 70.23 | 0.43 |
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 (1): 1054
Glycosylation sites (3): 70, 464, 616
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 198 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, YAGI_AML_WITH_INV_16_TRANSLOCATION, STAEGE_EWING_FAMILY_TUMOR, GOBP_MORPHOGENESIS_OF_EMBRYONIC_EPITHELIUM, CEBPB_01, GOBP_CELL_CELL_SIGNALING, GOBP_CELL_CELL_ADHESION, GTGCCTT_MIR506, TCF4_Q5, GOBP_CELL_JUNCTION_ORGANIZATION, MODULE_205
GO Biological Process (9): somitogenesis (GO:0001756), homophilic cell-cell adhesion (GO:0007156), cell-cell signaling (GO:0007267), chemical synaptic transmission (GO:0007268), morphogenesis of embryonic epithelium (GO:0016331), modulation of chemical synaptic transmission (GO:0050804), cell-cell adhesion (GO:0098609), regulation of synaptic membrane adhesion (GO:0099179), cell adhesion (GO:0007155)
GO Molecular Function (2): calcium ion binding (GO:0005509), cell adhesion molecule binding (GO:0050839)
GO Cellular Component (9): plasma membrane (GO:0005886), dendrite (GO:0030425), presynaptic membrane (GO:0042734), synapse (GO:0045202), postsynaptic membrane (GO:0045211), Schaffer collateral - CA1 synapse (GO:0098685), glutamatergic synapse (GO:0098978), membrane (GO:0016020), cell projection (GO:0042995)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| synaptic membrane | 2 |
| synapse | 2 |
| cellular anatomical structure | 2 |
| anterior/posterior pattern specification | 1 |
| segmentation | 1 |
| chordate embryonic development | 1 |
| anatomical structure formation involved in morphogenesis | 1 |
| somite development | 1 |
| cell-cell adhesion | 1 |
| cell communication | 1 |
| signaling | 1 |
| anterograde trans-synaptic signaling | 1 |
| morphogenesis of an epithelium | 1 |
| embryonic morphogenesis | 1 |
| chemical synaptic transmission | 1 |
| regulation of trans-synaptic signaling | 1 |
| cell adhesion | 1 |
| regulation of cell-cell adhesion | 1 |
| regulation of synapse organization | 1 |
| synaptic membrane adhesion | 1 |
| cellular process | 1 |
| metal ion binding | 1 |
| protein binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| neuron projection | 1 |
| dendritic tree | 1 |
| presynapse | 1 |
| cell junction | 1 |
| postsynapse | 1 |
Protein interactions and networks
STRING
1500 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PCDH8 | DIPK2A | Q8NDZ4 | 715 |
| PCDH8 | CDH2 | P19022 | 626 |
| PCDH8 | TAOK2 | Q9UL54 | 582 |
| PCDH8 | PCDH11X | Q9BZA7 | 560 |
| PCDH8 | CDH17 | Q12864 | 555 |
| PCDH8 | ATP7B | P35670 | 553 |
| PCDH8 | STX2 | P32856 | 507 |
| PCDH8 | CALB1 | P05937 | 425 |
| PCDH8 | PENK | P01210 | 424 |
| PCDH8 | SLC17A7 | Q9P2U7 | 422 |
| PCDH8 | CFH | P08603 | 419 |
| PCDH8 | GAD1 | Q99259 | 418 |
| PCDH8 | DRD2 | P14416 | 416 |
| PCDH8 | PCDH19 | Q8TAB3 | 416 |
| PCDH8 | IREB2 | P48200 | 412 |
IntAct
7 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PCDH8 | BTRC | psi-mi:“MI:0915”(physical association) | 0.370 |
| ITM2B | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| SYNGAP1 | POM121C | psi-mi:“MI:0914”(association) | 0.350 |
| HCN1 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| BRK1 | PCDH8 | psi-mi:“MI:0914”(association) | 0.350 |
| UBQLN4 | PCDH8 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (3): PCDH8 (Affinity Capture-MS), PCDH8 (Two-hybrid), PCDH8 (Two-hybrid)
ESM2 similar proteins: A2A699, A2XVC2, A8MVW0, B0F2B4, D3ZE55, O09017, O14492, O62763, O95206, P10588, P21836, P22303, P23795, P36196, P37136, P43029, P43136, P50427, Q14003, Q29RK8, Q2QXZ2, Q2RAQ5, Q3U0S6, Q495W5, Q4ACU6, Q5T442, Q5U651, Q5ZMM1, Q62888, Q62889, Q63959, Q69ZK9, Q6UXK2, Q76KP1, Q7FA29, Q7Z4P5, Q80WV3, Q80XF7, Q869C3, Q8BQU6
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
177 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 161 |
| Likely benign | 9 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1527762 | GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217) | Pathogenic |
SpliceAI
351 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:52845093:T:TA | donor_gain | 1.0000 |
| 13:52845419:CCTCA:C | donor_loss | 1.0000 |
| 13:52845420:CTCA:C | donor_loss | 1.0000 |
| 13:52845421:TCA:T | donor_loss | 1.0000 |
| 13:52845422:CA:C | donor_loss | 1.0000 |
| 13:52845423:A:T | donor_loss | 1.0000 |
| 13:52845424:CCA:C | donor_gain | 1.0000 |
| 13:52845424:CCACT:C | donor_gain | 1.0000 |
| 13:52845134:CAG:C | acceptor_gain | 0.9900 |
| 13:52845137:C:CC | acceptor_gain | 0.9900 |
| 13:52845423:A:AC | donor_gain | 0.9900 |
| 13:52845423:AC:A | donor_gain | 0.9900 |
| 13:52845424:C:CC | donor_gain | 0.9900 |
| 13:52845424:CC:C | donor_gain | 0.9900 |
| 13:52845448:T:TA | donor_gain | 0.9900 |
| 13:52845628:TAGGG:T | acceptor_gain | 0.9900 |
| 13:52845645:A:AC | acceptor_gain | 0.9900 |
| 13:52845418:T:TA | donor_gain | 0.9800 |
| 13:52845629:AGGG:A | acceptor_gain | 0.9800 |
| 13:52845630:GGG:G | acceptor_gain | 0.9800 |
| 13:52845631:GG:G | acceptor_gain | 0.9800 |
| 13:52845632:GCTG:G | acceptor_loss | 0.9800 |
| 13:52845633:C:CC | acceptor_gain | 0.9800 |
| 13:52845633:CTG:C | acceptor_loss | 0.9800 |
| 13:52845637:A:T | acceptor_gain | 0.9800 |
| 13:52845645:A:C | acceptor_gain | 0.9800 |
| 13:52845427:CT:C | donor_gain | 0.9700 |
| 13:52846098:T:TA | donor_gain | 0.9700 |
| 13:52845133:TCAGC:T | acceptor_loss | 0.9600 |
| 13:52845135:AGCT:A | acceptor_loss | 0.9600 |
AlphaMissense
6842 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:52846160:G:C | S759R | 1.000 |
| 13:52846160:G:T | S759R | 1.000 |
| 13:52846162:T:G | S759R | 1.000 |
| 13:52845487:T:A | D926V | 0.999 |
| 13:52845487:T:G | D926A | 0.999 |
| 13:52845488:C:G | D926H | 0.999 |
| 13:52845498:A:C | S922R | 0.999 |
| 13:52845498:A:T | S922R | 0.999 |
| 13:52845500:T:G | S922R | 0.999 |
| 13:52846159:A:G | C760R | 0.999 |
| 13:52846628:G:C | N603K | 0.999 |
| 13:52846628:G:T | N603K | 0.999 |
| 13:52846629:T:A | N603I | 0.999 |
| 13:52847025:T:G | D471A | 0.999 |
| 13:52847026:C:G | D471H | 0.999 |
| 13:52847127:A:C | F437C | 0.999 |
| 13:52847127:A:G | F437S | 0.999 |
| 13:52847178:T:A | D420V | 0.999 |
| 13:52847382:G:T | P352H | 0.999 |
| 13:52847393:A:C | N348K | 0.999 |
| 13:52847393:A:T | N348K | 0.999 |
| 13:52847394:T:A | N348I | 0.999 |
| 13:52847400:T:A | D346V | 0.999 |
| 13:52847418:A:T | V340D | 0.999 |
| 13:52847520:A:T | L306H | 0.999 |
| 13:52847547:A:G | F297S | 0.999 |
| 13:52847895:A:C | F181C | 0.999 |
| 13:52847895:A:G | F181S | 0.999 |
| 13:52848050:G:C | N129K | 0.999 |
| 13:52848050:G:T | N129K | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000022179 (13:52846341 G>A,C,T), RS1000190284 (13:52845444 G>A,T), RS1000633573 (13:52843775 T>G), RS1000663322 (13:52843342 T>C), RS1000723541 (13:52845723 A>C,G), RS1000885088 (13:52849814 G>A), RS1001196346 (13:52843756 A>T), RS1001229239 (13:52850599 T>A), RS1001261742 (13:52850172 G>C,T), RS1001730836 (13:52844199 T>A), RS1002139713 (13:52844226 C>A,T), RS1003672570 (13:52846924 A>G,T), RS1004303179 (13:52842578 G>A), RS1004330925 (13:52844631 C>A), RS1004376307 (13:52848625 G>T)
Disease associations
OMIM: gene MIM:603580 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001547_4 | Immune response to anthrax vaccine | 8.000000e-06 |
| GCST001621_12 | Airflow obstruction | 8.000000e-07 |
| GCST004070_10 | Cerebrospinal P-tau181p levels | 6.000000e-09 |
| GCST009391_1401 | Metabolite levels | 2.000000e-06 |
| GCST009391_1406 | Metabolite levels | 5.000000e-06 |
| GCST009391_1788 | Metabolite levels | 5.000000e-06 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004645 | response to vaccine |
| EFO:0003892 | pulmonary function measurement |
| EFO:0004763 | p-tau measurement |
| EFO:0005132 | 5-HIAA measurement |
| EFO:0004468 | glucose measurement |
| EFO:0010477 | fructose measurement |
| EFO:0010481 | galactose measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, increases expression, increases methylation | 8 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| methylmercuric chloride | decreases expression, increases expression | 2 |
| bisphenol A | decreases methylation, increases methylation, affects cotreatment | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Panobinostat | increases expression, affects cotreatment | 2 |
| Tetrachlorodibenzodioxin | affects cotreatment, increases expression, decreases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, decreases expression | 2 |
| N(4)-hydroxycytidine | decreases expression | 1 |
| arsenite | increases methylation | 1 |
| afimoxifene | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| mercuric bromide | affects cotreatment, decreases expression | 1 |
| 4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression, decreases expression | 1 |
| 2,2’,4,4’,5-brominated diphenyl ether | increases expression | 1 |
| belinostat | increases expression | 1 |
| thifluzamide | increases expression | 1 |
| abrine | increases expression | 1 |
| pyrachlostrobin | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression, decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Amiodarone | increases expression | 1 |
| Antimycin A | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | affects expression | 1 |
| Cocaine | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects cotreatment, 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.