PCDH11X
geneOn this page
Also known as PCDH-XPCDHXPPP1R119
Summary
PCDH11X (protocadherin 11 X-linked, HGNC:8656) is a protein-coding gene on chromosome Xq21.31, encoding Protocadherin-11 X-linked (Q9BZA7). Potential calcium-dependent cell-adhesion protein.
This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog, despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell-cell recognition essential for the segmental development and function of the central nervous system. Disruption of this gene may be associated with developmental dyslexia. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 27328 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 212 total
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_032968
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8656 |
| Approved symbol | PCDH11X |
| Name | protocadherin 11 X-linked |
| Location | Xq21.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PCDH-X, PCDHX, PPP1R119 |
| Ensembl gene | ENSG00000102290 |
| Ensembl biotype | protein_coding |
| OMIM | 300246 |
| Entrez | 27328 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 7 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000298274, ENST00000361655, ENST00000361724, ENST00000373088, ENST00000373094, ENST00000373097, ENST00000406881, ENST00000504220, ENST00000682573
RefSeq mRNA: 6 — MANE Select: NM_032968
NM_001168360, NM_001168361, NM_001168362, NM_001168363, NM_032968, NM_032969
CCDS: CCDS14461, CCDS14462, CCDS55458, CCDS55459, CCDS55460, CCDS55461
Canonical transcript exons
ENST00000682573 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001300322 | 92201375 | 92201455 |
| ENSE00001327755 | 92263114 | 92263143 |
| ENSE00001459500 | 92618264 | 92623230 |
| ENSE00001718872 | 92387735 | 92387933 |
| ENSE00001786328 | 91810473 | 91810578 |
| ENSE00003659155 | 92468299 | 92468322 |
| ENSE00003756215 | 91811237 | 91811295 |
| ENSE00003757792 | 91876781 | 91879273 |
| ENSE00003919140 | 91809466 | 91809634 |
| ENSE00003921567 | 91779375 | 91779684 |
| ENSE00003922121 | 91835461 | 91836044 |
Expression profiles
Bgee: expression breadth broad, 74 present calls, max score 78.75.
FANTOM5 (CAGE): breadth broad, TPM avg 1.5885 / max 118.9487, expressed in 276 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 196886 | 1.4141 | 275 |
| 196887 | 0.1106 | 56 |
| 196888 | 0.0638 | 27 |
Top tissues by expression
121 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 78.75 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 75.51 | gold quality |
| ganglionic eminence | UBERON:0004023 | 75.01 | gold quality |
| ventricular zone | UBERON:0003053 | 73.76 | gold quality |
| primary visual cortex | UBERON:0002436 | 70.64 | gold quality |
| nucleus accumbens | UBERON:0001882 | 70.34 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 69.94 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 69.62 | gold quality |
| thoracic aorta | UBERON:0001515 | 68.76 | gold quality |
| prefrontal cortex | UBERON:0000451 | 68.55 | gold quality |
| ascending aorta | UBERON:0001496 | 68.55 | gold quality |
| placenta | UBERON:0001987 | 65.64 | gold quality |
| hypothalamus | UBERON:0001898 | 65.47 | gold quality |
| frontal cortex | UBERON:0001870 | 63.69 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 63.20 | gold quality |
| caudate nucleus | UBERON:0001873 | 61.75 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 61.73 | gold quality |
| temporal lobe | UBERON:0001871 | 61.19 | gold quality |
| amygdala | UBERON:0001876 | 60.95 | gold quality |
| corpus callosum | UBERON:0002336 | 60.82 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 60.78 | gold quality |
| cerebral cortex | UBERON:0000956 | 60.20 | gold quality |
| putamen | UBERON:0001874 | 60.17 | gold quality |
| ovary | UBERON:0000992 | 60.02 | gold quality |
| colonic epithelium | UBERON:0000397 | 58.56 | gold quality |
| calcaneal tendon | UBERON:0003701 | 58.52 | gold quality |
| left ovary | UBERON:0002119 | 58.22 | gold quality |
| right ovary | UBERON:0002118 | 58.04 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 57.79 | gold quality |
| brain | UBERON:0000955 | 56.46 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6819 | yes | 256.86 |
| E-ANND-3 | yes | 5.20 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
217 targeting PCDH11X, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
Literature-anchored findings (GeneRIF, showing 13)
- By confirming the suspected lack of X-Y homologous status for PCDH11 in non-human primates, our results reinforce the hypothesis of a hominid-specific role for this gene in brain development (PMID:16825765)
- a candidate for the evolution of hominid-specific characteristics including the sexual dimorphism of cerebral asymmetry, a putative correlate of language (PMID:16874762)
- This paper proposes that the PCDH11X/Y gene pair generates epigenetic diversity relating to the species capacity for language including predisposition to psychosis. (PMID:18502103)
- We consider that a stronger case can be mounted for the Protocadherin11X/Y gene pair located in the hominid specific Xq21.3/Yp11.2 region of homology that was generated by a duplication from the X (PMID:19125366)
- Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer’s disease. (PMID:19136949)
- The present article investigated the patterns of alternative splicing and expression of the PCDH11X/Y genes. (PMID:19859901)
- An association between late-onset Alzheimer disease and the PCDH11X polymorphisms, was not detected. (PMID:20523261)
- association not found for rs5984894 polymorphism in PCDH11X in Alzheimer’s disease in Italy (PMID:20555150)
- PCDH11X gene polymorphism does not play a major role in the genetic predisposition to late-onset Alzheimer disease in this Han Chinese population. (PMID:20707987)
- our data…failed to confirm the association between PCDH11X polymorphisms and late-onset Alzheimer’s disease (PMID:21276771)
- PCDH11X expression was detected in the fetal neocortex, ganglionic eminences, cerebellum, and inferior olive. In the adult brain, the cerebral cortex, hippocampal formation, and cerebellum and brain stem were immunoreactive. (PMID:22744706)
- the PCDH11X/Y gene pair determines cerebral asymmetry by initiating the right shift in Homo sapiens (PMID:23600975)
- PCDH11X, expressed in brain is implicated in cell-cell communication, verbal ability, cerebral asymmetry, and dendritic synaptic plasticity, may be regarded as a new candidate gene for dyslexia. (PMID:24591081)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pcdh11 | ENSDARG00000098652 |
| mus_musculus | Pcdh11x | ENSMUSG00000034755 |
| rattus_norvegicus | Pcdh11x | ENSRNOG00000069840 |
Paralogs (33): CDH1 (ENSG00000039068), CDH10 (ENSG00000040731), CDH3 (ENSG00000062038), CDH19 (ENSG00000071991), CDHR2 (ENSG00000074276), CDH17 (ENSG00000079112), CDH7 (ENSG00000081138), PCDH11Y (ENSG00000099715), CDHR5 (ENSG00000099834), CDH20 (ENSG00000101542), CDH23 (ENSG00000107736), CDH9 (ENSG00000113100), CDH6 (ENSG00000113361), CDH26 (ENSG00000124215), CDHR3 (ENSG00000128536), CDH15 (ENSG00000129910), CDH24 (ENSG00000139880), CDH11 (ENSG00000140937), CDH13 (ENSG00000140945), CDH18 (ENSG00000145526), CDHR1 (ENSG00000148600), CDH22 (ENSG00000149654), CDH8 (ENSG00000150394), CDH12 (ENSG00000154162), PCDH1 (ENSG00000156453), DCHS1 (ENSG00000166341), PCDH7 (ENSG00000169851), CDH2 (ENSG00000170558), CDH4 (ENSG00000179242), CDH5 (ENSG00000179776), PCDH9 (ENSG00000184226), DCHS2 (ENSG00000197410), PCDH20 (ENSG00000280165)
Protein
Protein identifiers
Protocadherin-11 X-linked — Q9BZA7 (reviewed: Q9BZA7)
Alternative names: Protocadherin on the X chromosome, Protocadherin-S
All UniProt accessions (1): Q9BZA7
UniProt curated annotations — full annotation on UniProt →
Function. Potential calcium-dependent cell-adhesion protein.
Subcellular location. Cell membrane.
Tissue specificity. Expressed strongly in fetal brain and brain (cortex, amygdala, thalamus, substantia nigra, hippocampus, caudate nucleus and corpus callosum). Expressed at low level in testis.
Isoforms (8)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BZA7-1 | 1 | yes |
| Q9BZA7-2 | 2 | |
| Q9BZA7-3 | 3 | |
| Q9BZA7-4 | 4 | |
| Q9BZA7-5 | 5 | |
| Q9BZA7-6 | 6 | |
| Q9BZA7-7 | 7, Protocadherin-Xa | |
| Q9BZA7-8 | 8 |
RefSeq proteins (6): NP_001161832, NP_001161833, NP_001161834, NP_001161835, NP_116750, NP_116751 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002126 | Cadherin-like_dom | Domain |
| IPR013164 | Cadherin_N | Domain |
| IPR013585 | Protocadherin | Domain |
| IPR015919 | Cadherin-like_sf | Homologous_superfamily |
| IPR020894 | Cadherin_CS | Conserved_site |
| IPR050174 | Protocadherin/Cadherin-CA | Family |
Pfam: PF00028, PF08266, PF08374
UniProt features (34 total): splice variant 9, domain 7, glycosylation site 6, region of interest 3, topological domain 2, sequence variant 2, sequence conflict 2, signal peptide 1, chain 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BZA7-F1 | 64.22 | 0.33 |
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): 27, 48, 54, 344, 553, 773
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 150 (showing top):
STAEGE_EWING_FAMILY_TUMOR, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, SCHLESINGER_METHYLATED_DE_NOVO_IN_CANCER, GOBP_CELL_CELL_ADHESION, BLALOCK_ALZHEIMERS_DISEASE_UP, SCHLOSSER_SERUM_RESPONSE_DN, AACTTT_UNKNOWN, ATCATGA_MIR433, DBP_Q6, BREDEMEYER_RAG_SIGNALING_NOT_VIA_ATM_UP, FREAC7_01, CTAWWWATA_RSRFC4_Q2, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_DN, RAMASWAMY_METASTASIS_DN, WGTTNNNNNAAA_UNKNOWN
GO Biological Process (2): cell adhesion (GO:0007155), homophilic cell-cell adhesion (GO:0007156)
GO Molecular Function (2): calcium ion binding (GO:0005509), cell adhesion molecule binding (GO:0050839)
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 |
| metal ion binding | 1 |
| protein binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1416 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PCDH11X | TGIF2LY | Q8IUE0 | 887 |
| PCDH11X | PRKY | O43930 | 859 |
| PCDH11X | TGIF2LX | Q8IUE1 | 854 |
| PCDH11X | AMELY | Q99218 | 845 |
| PCDH11X | TSPY1 | P09002 | 842 |
| PCDH11X | AMELX | Q99217 | 800 |
| PCDH11X | TBL1Y | Q9BQ87 | 789 |
| PCDH11X | PABPC5 | Q96DU9 | 762 |
| PCDH11X | MYH7B | A7E2Y1 | 654 |
| PCDH11X | NRXN1 | Q9ULB1 | 641 |
| PCDH11X | CTNNB1 | P35222 | 633 |
| PCDH11X | NRXN2 | Q9P2S2 | 630 |
| PCDH11X | FYN | P06241 | 595 |
| PCDH11X | TGIF2 | Q9GZN2 | 587 |
| PCDH11X | EPHA1 | P21709 | 578 |
IntAct
7 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PPP1CA | PCDH11X | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PCDH11X | RPL10A | psi-mi:“MI:0915”(physical association) | 0.400 |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| ATG16L1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (12): PCDH11X (Affinity Capture-RNA), PCDH11X (Positive Genetic), PCDH11X (Proximity Label-MS), PCDH11X (Affinity Capture-MS), PCDH11X (Proximity Label-MS), PCDH11X (Protein-peptide), RPL10A (Cross-Linking-MS (XL-MS)), PCDH11Y (Cross-Linking-MS (XL-MS)), PCDH11X (Cross-Linking-MS (XL-MS)), PCDH11X (Cross-Linking-MS (XL-MS)), PCDH11X (Affinity Capture-RNA), PCDH11X (Affinity Capture-Western)
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, D4ACX8, E9PVD3, F8W3X3, O14917, O35161, O55134, O60245, O60330, O88278, O95206, P58365, Q08174, Q24292, Q2PZL6, Q5DRA2, Q5DRA3, Q5DRA4, Q5DRA5, Q5DRA6, Q5DRA7, Q5DRA8, Q5DRA9, Q5DRB1, Q5DRB2, Q5DRB3, Q5DRB4, Q5DRB5, Q5DRB6, Q5DRB7, Q5DRB8, Q5DRB9, Q5DRC0, Q5DRC1, Q5DRC2, Q5DRC6, Q5DRC8, Q5DRC9, Q5DRD0
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PCDH11X | down-regulates | Neurite_outgrowth |
Disease & clinical
Clinical variants and AI predictions
ClinVar
212 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 109 |
| Likely benign | 21 |
| Benign | 12 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2743 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:91836041:TAAGG:T | donor_loss | 1.0000 |
| X:91836042:AAGG:A | donor_loss | 1.0000 |
| X:91836043:AGGT:A | donor_loss | 1.0000 |
| X:91836044:GGTG:G | donor_loss | 1.0000 |
| X:91836045:G:GA | donor_loss | 1.0000 |
| X:91836046:T:A | donor_loss | 1.0000 |
| X:91876770:A:AG | acceptor_gain | 1.0000 |
| X:91876770:AT:A | acceptor_gain | 1.0000 |
| X:91876771:T:G | acceptor_gain | 1.0000 |
| X:91876777:CCA:C | acceptor_loss | 1.0000 |
| X:91876778:CA:C | acceptor_loss | 1.0000 |
| X:91876779:A:AG | acceptor_gain | 1.0000 |
| X:91876779:A:AT | acceptor_loss | 1.0000 |
| X:91876780:G:A | acceptor_loss | 1.0000 |
| X:91876780:G:GG | acceptor_gain | 1.0000 |
| X:91876780:GA:G | acceptor_gain | 1.0000 |
| X:92082865:A:AG | donor_gain | 1.0000 |
| X:92201370:TAAAG:T | acceptor_loss | 1.0000 |
| X:92201371:A:AG | acceptor_gain | 1.0000 |
| X:92201372:A:G | acceptor_gain | 1.0000 |
| X:92201373:A:AG | acceptor_gain | 1.0000 |
| X:92201374:G:GG | acceptor_gain | 1.0000 |
| X:92201374:GCC:G | acceptor_gain | 1.0000 |
| X:92201374:GCCA:G | acceptor_gain | 1.0000 |
| X:92201452:ACAGG:A | donor_loss | 1.0000 |
| X:92201453:CAGGT:C | donor_loss | 1.0000 |
| X:92201454:AGG:A | donor_loss | 1.0000 |
| X:92201456:G:A | donor_loss | 1.0000 |
| X:92201457:T:A | donor_loss | 1.0000 |
| X:92263081:T:TA | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000003181 (X:92175355 T>C), RS1000025593 (X:92396179 C>A,T), RS1000034583 (X:91913095 C>A), RS1000037871 (X:92316874 C>A,T), RS1000039472 (X:92001692 T>C), RS1000044962 (X:91836844 G>A), RS1000046981 (X:92012871 T>G), RS1000047690 (X:92083305 C>A,T), RS1000056762 (X:92397727 T>A,C), RS1000061872 (X:91869846 G>A), RS1000067525 (X:92281023 T>A,C), RS1000077342 (X:92161425 GT>G,GTT), RS1000100480 (X:91925003 G>A), RS1000103783 (X:92306716 C>G,T), RS1000107070 (X:92174594 C>T)
Disease associations
OMIM: gene MIM:300246 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): Alzheimer disease (MONDO:0004975)
Orphanet (2): Early-onset autosomal dominant Alzheimer disease (Orphanet:1020), NON RARE IN EUROPE: Alzheimer disease (Orphanet:238616)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0002511 | Alzheimer disease |
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000315_1 | Alzheimer’s disease | 2.000000e-07 |
| GCST001613_10 | Antineutrophil cytoplasmic antibody-associated vasculitis | 4.000000e-08 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D000544 | Alzheimer Disease | C10.228.140.380.100; C10.574.945.249; F03.615.400.100 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
13 total (human), top 13 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects binding, increases reaction | 1 |
| butyraldehyde | decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Catechin | decreases expression, affects cotreatment | 1 |
| DEET | decreases expression | 1 |
| Oxygen | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Triclosan | increases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| 1-Methyl-4-phenylpyridinium | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
Cellosaurus cell lines
2 cell lines: 2 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A2QH | GM27434 | Transformed cell line | Male |
| CVCL_A2QI | GM27435 | Transformed cell line | Female |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00009191 | PHASE4 | COMPLETED | The Depression in Alzheimer’s Disease Study (DIADS) |
| NCT00009217 | PHASE4 | COMPLETED | Treatment of Behavioral Symptoms in Alzheimer’s Disease |
| NCT00018278 | PHASE4 | COMPLETED | Electrophysiologic Measures of Treatment Response in Alzheimer Disease |
| NCT00035204 | PHASE4 | COMPLETED | A Study of the Effects on Sleep, Attention, and Gastrointestinal Tolerance of Galantamine and Donepezil in Patients With Alzheimer’s Disease |
| NCT00042172 | PHASE4 | COMPLETED | Treatment for Early Memory Loss |
| NCT00046358 | PHASE4 | COMPLETED | The Effect of Short-Term Statins and NSAIDs on Levels of Beta-Amyloid, a Protein Associated With Alzheimer’s Disease |
| NCT00104442 | PHASE4 | COMPLETED | Study of the Effects of Current Drug Treatments on Levels of Certain Brain Chemicals in Alzheimer’s Disease |
| NCT00120874 | PHASE4 | COMPLETED | Memantine and Comprehensive, Individualized Management of Alzheimer’s Disease and Caregiver Training |
| NCT00142324 | PHASE4 | UNKNOWN | CALM-AD |
| NCT00165724 | PHASE4 | COMPLETED | Alzheimer’s Disease Long-term Follow-up Study (ALF Study) |
| NCT00165750 | PHASE4 | TERMINATED | Correlation Between Regional Brain Volume and Response to Donepezil Treatment in AD Patients |
| NCT00202124 | PHASE4 | COMPLETED | Double Blind Study of Trp01 in Patients With Alzheimer’s Disease |
| NCT00208819 | PHASE4 | COMPLETED | A Comparison of Two Standard Therapies in the Management of Dementia With Agitation |
| NCT00216515 | PHASE4 | COMPLETED | The Efficacy of Galantamine on the Attention and the Frontal Function of the Patients With Dementia of Alzheimer Type |
| NCT00230568 | PHASE4 | COMPLETED | EARTH 413: A Study of Aricept in Hispanic Patients With Mild to Moderate Alzheimer’s Disease (AD) |
| NCT00234637 | PHASE4 | COMPLETED | Rivastigmine Monotherapy and Combination Therapy With Memantine in Patients With Moderately Severe Alzheimer’s Disease Who Failed to Benefit From Previous Cholinesterase Inhibitor Treatment |
| NCT00245206 | PHASE4 | COMPLETED | Side Effects of Newer Antipsychotics in Older Adults |
| NCT00254033 | PHASE4 | COMPLETED | Apathy Associated With Alzheimer’s Disease |
| NCT00260624 | PHASE4 | COMPLETED | Escitalopram Treatment of Patients With Agitated Dementia |
| NCT00303277 | PHASE4 | COMPLETED | Do HMG CoA Reductase Inhibitors Affect Abeta Levels? |
| NCT00305903 | PHASE4 | COMPLETED | Safety and Tolerability of Rivastigmine With Add-on Memantine in Patients With Probable Alzheimer’s Disease |
| NCT00306124 | PHASE4 | UNKNOWN | Dopaminergic Enhancement of Learning and Memory in Healthy Adults and Patients With Dementia/Mild Cognitive Impairment |
| NCT00334906 | PHASE4 | COMPLETED | Study of Memantine in Assessment of Selected Measures of Volumetric Magnetic Resonance Imaging (MRI) and Cognition in Moderate AD (Alzheimer’s Disease) |
| NCT00369603 | PHASE4 | TERMINATED | Functional Brain Imaging of Medication Treatment Response in Mild Alzheimer’s Disease Patients |
| NCT00375557 | PHASE4 | WITHDRAWN | Safety and Efficacy of Divalproex and Quetiapine in Elderly Alzheimer’s Dementia Patients |
| NCT00381381 | PHASE4 | COMPLETED | The Clinical Response of Choline Acetyltransferase and Apolipoprotein Epsilon Gene Polymorphisms to Donepezil in Alzheimer’s Disease |
| NCT00385684 | PHASE4 | COMPLETED | Low-Dose Opiate Therapy for Discomfort in Dementia (L-DOT) |
| NCT00401167 | PHASE4 | COMPLETED | Memantine for Agitation and Aggression in Severe Alzheimer’s Disease |
| NCT00403520 | PHASE4 | COMPLETED | Hippocampus Study: Comparative Effect of Donepezil 10mg/d and Placebo on Clinical and Radiological Markers |
| NCT00417482 | PHASE4 | COMPLETED | Antipsychotic Discontinuation in Alzheimer’s Disease |
| NCT00443014 | PHASE4 | COMPLETED | The Dementia Study in Northern Norway |
| NCT00469456 | PHASE4 | COMPLETED | Effect of Memantine on Functional Communication in Patients With Alzheimer’s Disease |
| NCT00476008 | PHASE4 | COMPLETED | Delaying the Progression of Driving Impairment in Individuals With Mild Alzheimer’s Disease |
| NCT00477659 | PHASE4 | COMPLETED | Neural Correlates In Mild Alzheimer’s Disease |
| NCT00480870 | PHASE4 | COMPLETED | The Effect of Anticholinesterase Drugs on Sleep in Alzheimer’s Disease Patients |
| NCT00495820 | PHASE4 | COMPLETED | Methylphenidate for Apathy in Alzheimer’s Dementia: A Controlled Study |
| NCT00523666 | PHASE4 | UNKNOWN | Diffusion Tensor Weighted MRI in Alzheimer’s Disease Modifying Treatment Effects of Galantamine (Reminyl®) |
| NCT00549601 | PHASE4 | COMPLETED | Convenience, Tolerability, and Safety of Change in the Administration of Rivastigmine From Capsules to a Transdermal Patch in Patients With Mild to Moderate Alzheimer’s Disease |
| NCT00551161 | PHASE4 | COMPLETED | Magnetic Resonance Spectroscopy Study of Memantine in Alzheimer’s Disease |
| NCT00561392 | PHASE4 | COMPLETED | Clinical Effectiveness of 10 cm^2 Rivastigmine Patch in Patients With Alzheimer’s Disease |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Alzheimer disease, anti-neutrophil antibody associated vasculitis