CEP19
geneOn this page
Also known as MGC14126
Summary
CEP19 (centrosomal protein 19, HGNC:28209) is a protein-coding gene on chromosome 3q29, encoding Centrosomal protein of 19 kDa (Q96LK0). Required for ciliation.
The protein encoded by this gene localizes to centrosomes and primary cilia and co-localizes with a marker for the mother centriole. This gene resides in a region of human chromosome 3 that is linked to morbid obesity. A homozygous knockout of the orthologous gene in mouse resulted in mice with morbid obesity, hyperphagy, glucose intolerance, and insulin resistance. Mutations in this gene cause morbid obesity and spermatogenic failure (MOSPGF). This gene has a pseudogene on human chromosome 2.
Source: NCBI Gene 84984 — RefSeq curated summary.
At a glance
- Gene–disease (curated): obesity due to CEP19 deficiency (Strong, GenCC) — +1 more curated relationship
- GWAS associations: 4
- Clinical variants (ClinVar): 131 total — 8 pathogenic
- Phenotypes (HPO): 103
- MANE Select transcript:
NM_032898
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28209 |
| Approved symbol | CEP19 |
| Name | centrosomal protein 19 |
| Location | 3q29 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC14126 |
| Ensembl gene | ENSG00000174007 |
| Ensembl biotype | protein_coding |
| OMIM | 615586 |
| Entrez | 84984 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 13 protein_coding
ENST00000399942, ENST00000409690, ENST00000893283, ENST00000893284, ENST00000893285, ENST00000893286, ENST00000933600, ENST00000933601, ENST00000959538, ENST00000959539, ENST00000959540, ENST00000959541, ENST00000959542
RefSeq mRNA: 4 — MANE Select: NM_032898
NM_001379468, NM_001379469, NM_001379470, NM_032898
CCDS: CCDS43193, CCDS93445
Canonical transcript exons
ENST00000409690 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001189550 | 196708528 | 196708727 |
| ENSE00001577166 | 196706277 | 196707912 |
| ENSE00001903592 | 196711929 | 196712250 |
Expression profiles
Bgee: expression breadth ubiquitous, 214 present calls, max score 87.95.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.7879 / max 86.7396, expressed in 1431 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 46382 | 3.5305 | 1413 |
| 46381 | 0.1727 | 48 |
| 46380 | 0.0847 | 33 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.95 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.31 | gold quality |
| blood | UBERON:0000178 | 84.77 | gold quality |
| oviduct epithelium | UBERON:0004804 | 83.12 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 82.85 | gold quality |
| bronchial epithelial cell | CL:0002328 | 82.17 | gold quality |
| sperm | CL:0000019 | 81.95 | gold quality |
| bronchus | UBERON:0002185 | 80.95 | gold quality |
| secondary oocyte | CL:0000655 | 80.67 | gold quality |
| cortical plate | UBERON:0005343 | 80.62 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 79.02 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 78.52 | gold quality |
| postcentral gyrus | UBERON:0002581 | 77.70 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 77.62 | gold quality |
| prefrontal cortex | UBERON:0000451 | 77.36 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 77.00 | gold quality |
| entorhinal cortex | UBERON:0002728 | 76.70 | gold quality |
| primary visual cortex | UBERON:0002436 | 76.68 | gold quality |
| frontal cortex | UBERON:0001870 | 76.13 | gold quality |
| neocortex | UBERON:0001950 | 76.02 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 75.90 | gold quality |
| testis | UBERON:0000473 | 75.88 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 75.49 | gold quality |
| cerebral cortex | UBERON:0000956 | 75.47 | gold quality |
| buccal mucosa cell | CL:0002336 | 75.26 | silver quality |
| ventricular zone | UBERON:0003053 | 75.18 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 75.11 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 74.68 | gold quality |
| right frontal lobe | UBERON:0002810 | 74.61 | gold quality |
| right testis | UBERON:0004534 | 74.43 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6142 | no | 106.07 |
| E-ANND-3 | no | 2.66 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
74 targeting CEP19, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
Literature-anchored findings (GeneRIF, showing 4)
- loss of the ciliary protein CEP19 in humans and mice causes morbid obesity. (PMID:24268657)
- RABL2 binds to CEP19 and the IFT74-IFT81 heterodimer in a mutually exclusive manner. (PMID:28428259)
- CEP19 is recruited to the ciliary base by the centriolar CEP350/FOP complex and then specifically captures GTP-bound RABL2B, which is activated via its intrinsic nucleotide exchange. (PMID:28625565)
- CEP19 encodes a centrosomal and ciliary protein, as all BBS genes do. Another truncating mutation p.Arg82* has been reported as responsible for morbid obesity in a family; however, in the family we present, not all homozygotes are obese, although some are severely obese. (PMID:29127258)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cep19 | ENSDARG00000059175 |
| mus_musculus | Cep19 | ENSMUSG00000035790 |
| rattus_norvegicus | Cep19 | ENSRNOG00000024924 |
Protein
Protein identifiers
Centrosomal protein of 19 kDa — Q96LK0 (reviewed: Q96LK0)
All UniProt accessions (2): Q96LK0, A8MX07
UniProt curated annotations — full annotation on UniProt →
Function. Required for ciliation. Recruits the RABL2B GTPase to the ciliary base to initiate ciliation. After specifically capturing the activated GTP-bound RABL2B, the CEP19-RABL2B complex binds intraflagellar transport (IFT) complex B from the large pool pre-docked at the base of the cilium and thus triggers its entry into the cilia. Involved in the early steps in cilia formation by recruiting the ciliary vesicles (CVs) to the distal end of the mother centriole where they fuse to initiate cilium assembly. Involved in microtubule (MT) anchoring to the centrosomes.
Subunit / interactions. Interacts with CEP43; this interaction is required for its localization to the mother centriole. Interacts (via residues 121-150) with RABL2B. Interacts (via C-terminus) with CEP350; this interaction is required for its localization to the mother centriole.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole. Spindle pole. Cilium basal body.
Disease relevance. Morbid obesity and spermatogenic failure (MOSPGF) [MIM:615703] An autosomal recessive morbid obesity syndrome characterized by hypertension, fatty liver disease, insulin resistance, and decreased sperm counts. Variable clinical manifestations are early coronary artery disease with myocardial infarction before 45 years of age, type II diabetes mellitus, and intellectual disability. Morbid obese individuals are defined as having a BMI greater than 40. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the CEP19 family.
RefSeq proteins (4): NP_001366397, NP_001366398, NP_001366399, NP_116287* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR029412 | CEP19 | Family |
Pfam: PF14933
UniProt features (1 total): chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96LK0-F1 | 82.85 | 0.31 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 341 (showing top):
GOBP_VESICLE_LOCALIZATION, GOBP_MICROTUBULE_ANCHORING, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_VESICLE_TARGETING, GOBP_VESICLE_MEDIATED_TRANSPORT, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_CILIUM_ORGANIZATION, GOCC_CENTROSOME, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_ORGANELLE_LOCALIZATION, GOCC_SPINDLE, GOCC_CENTRIOLE, GOCC_CILIUM, GOCC_CILIARY_BASAL_BODY
GO Biological Process (4): microtubule anchoring at centrosome (GO:0034454), cilium assembly (GO:0060271), trans-Golgi to periciliary membrane compartment transport (GO:0097712), cell projection organization (GO:0030030)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (10): spindle pole (GO:0000922), nucleoplasm (GO:0005654), centrosome (GO:0005813), centriole (GO:0005814), cytosol (GO:0005829), cilium (GO:0005929), ciliary basal body (GO:0036064), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cell projection (GO:0042995)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| microtubule organizing center | 3 |
| intracellular membraneless organelle | 2 |
| microtubule anchoring at microtubule organizing center | 1 |
| axoneme assembly | 1 |
| intraciliary transport involved in cilium assembly | 1 |
| cilium organization | 1 |
| protein localization to cilium | 1 |
| organelle assembly | 1 |
| trans-Golgi to periciliary membrane compartment transport | 1 |
| plasma membrane bounded cell projection assembly | 1 |
| ciliary transition zone assembly | 1 |
| Golgi to plasma membrane transport | 1 |
| cilium assembly | 1 |
| cellular component organization | 1 |
| binding | 1 |
| spindle | 1 |
| nuclear lumen | 1 |
| centriole | 1 |
| cytoplasm | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
| cilium | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
646 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CEP19 | RABL2A | Q9UBK7 | 809 |
| CEP19 | CEP43 | O95684 | 730 |
| CEP19 | CEP350 | Q5VT06 | 693 |
| CEP19 | RABL2B | Q9UNT1 | 659 |
| CEP19 | CEP89 | Q96ST8 | 646 |
| CEP19 | SMCO1 | Q147U7 | 634 |
| CEP19 | SCLT1 | Q96NL6 | 594 |
| CEP19 | UBXN7 | O94888 | 591 |
| CEP19 | WDR53 | Q7Z5U6 | 583 |
| CEP19 | DYNLT2B | Q8WW35 | 580 |
| CEP19 | CEP20 | Q96NB1 | 577 |
| CEP19 | CEP164 | Q9UPV0 | 531 |
| CEP19 | CEP128 | Q6ZU80 | 528 |
| CEP19 | ZDHHC19 | Q8WVZ1 | 522 |
| CEP19 | ARL13B | Q3SXY8 | 516 |
IntAct
203 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KXD1 | CEP19 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CEP19 | KXD1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CEP43 | CEP19 | psi-mi:“MI:0915”(physical association) | 0.770 |
| CEP19 | CEP43 | psi-mi:“MI:0915”(physical association) | 0.770 |
| CEP19 | CEP43 | psi-mi:“MI:0914”(association) | 0.770 |
| CCDC102B | CEP19 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CEP19 | ZBTB14 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CALCOCO1 | CEP19 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CEP19 | RABL2A | psi-mi:“MI:0915”(physical association) | 0.720 |
| VCP | CEP19 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CEP19 | CCDC102B | psi-mi:“MI:0915”(physical association) | 0.720 |
| ZBTB14 | CEP19 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CEP19 | CALCOCO1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CEP19 | VCP | psi-mi:“MI:0915”(physical association) | 0.720 |
| PIK3R3 | CEP19 | psi-mi:“MI:0915”(physical association) | 0.670 |
BioGRID (188): CEP19 (Two-hybrid), CEP19 (Two-hybrid), CEP19 (Two-hybrid), CEP19 (Two-hybrid), CEP19 (Two-hybrid), CEP19 (Two-hybrid), CEP19 (Two-hybrid), CEP19 (Two-hybrid), KIAA1958 (Two-hybrid), SYNE4 (Two-hybrid), CEP19 (Affinity Capture-MS), CEP19 (Two-hybrid), CEP19 (Two-hybrid), CEP19 (Two-hybrid), FGFR1OP (Affinity Capture-Western)
ESM2 similar proteins: A0A1L8H579, A0A1L8HCK2, A1CMP1, A1DL98, A1L3H4, A2R091, A5DQ88, A5PN52, A6H7C9, A6S6B0, A7F9B8, A7S7F2, A9UL78, A9ULR1, O04438, O59731, P20147, P20290, P33716, P34316, P51406, P57076, Q02106, Q02872, Q0ULD0, Q10209, Q1DI23, Q21920, Q2NL37, Q3M6B5, Q58FF3, Q5ASI4, Q5U3Z0, Q64152, Q6DRC3, Q6T938, Q8BL95, Q8GX05, Q8N8J0, Q8RWS4
Diamond homologs: A6H7C9, A9UL78, Q4V8Z3, Q96LK0, Q9CQA8, Q9QZX9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
131 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 8 |
| Likely pathogenic | 0 |
| Uncertain significance | 83 |
| Likely benign | 29 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (8)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1340723 | GRCh37/hg19 3q29(chr3:195914129-196804639)x1 | Pathogenic |
| 1679598 | Single allele | Pathogenic |
| 430642 | NM_032898.5(CEP19):c.182dup (p.Tyr61Ter) | Pathogenic |
| 545295 | NC_000003.12:g.(?196154147)(197376501_?)del | Pathogenic |
| 562866 | GRCh37/hg19 3q29(chr3:195725290-197015654)x1 | Pathogenic |
| 57328 | GRCh38/hg38 3q29(chr3:196013486-197503306)x3 | Pathogenic |
| 57492 | GRCh38/hg38 3q29(chr3:196077857-197165715)x1 | Pathogenic |
| 997056 | GRCh37/hg19 3q29(chr3:195419168-197387258) | Pathogenic |
SpliceAI
503 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:196707909:CAAT:C | acceptor_gain | 1.0000 |
| 3:196707910:AATC:A | acceptor_loss | 1.0000 |
| 3:196707913:C:CA | acceptor_loss | 1.0000 |
| 3:196707913:C:CC | acceptor_gain | 1.0000 |
| 3:196707908:GCAAT:G | acceptor_gain | 0.9900 |
| 3:196707909:CAATC:C | acceptor_gain | 0.9900 |
| 3:196707910:AAT:A | acceptor_gain | 0.9900 |
| 3:196707911:AT:A | acceptor_gain | 0.9900 |
| 3:196707911:ATCT:A | acceptor_gain | 0.9800 |
| 3:196712110:C:CA | donor_gain | 0.9800 |
| 3:196712111:C:A | donor_gain | 0.9800 |
| 3:196707910:AATCT:A | acceptor_gain | 0.9700 |
| 3:196708728:C:CC | acceptor_gain | 0.9700 |
| 3:196707912:TCT:T | acceptor_gain | 0.9600 |
| 3:196708415:A:AC | donor_gain | 0.9600 |
| 3:196708416:C:CC | donor_gain | 0.9600 |
| 3:196708523:GGTA:G | donor_loss | 0.9600 |
| 3:196708524:GTACC:G | donor_loss | 0.9600 |
| 3:196708525:TA:T | donor_loss | 0.9600 |
| 3:196708526:A:AT | donor_loss | 0.9600 |
| 3:196708527:CCTG:C | donor_loss | 0.9600 |
| 3:196708529:TGAAA:T | donor_gain | 0.9600 |
| 3:196711927:AC:A | donor_gain | 0.9600 |
| 3:196711928:CC:C | donor_gain | 0.9600 |
| 3:196708528:C:G | donor_loss | 0.9500 |
| 3:196708725:CTG:C | acceptor_gain | 0.9500 |
| 3:196712086:A:AC | donor_gain | 0.9500 |
| 3:196712087:C:CC | donor_gain | 0.9500 |
| 3:196708721:CTTC:C | acceptor_gain | 0.9400 |
| 3:196708723:TCCTG:T | acceptor_loss | 0.9400 |
AlphaMissense
1119 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000373958 (3:196711475 A>G), RS1001543566 (3:196711841 C>T), RS1001818922 (3:196706426 G>T), RS1002102030 (3:196710767 A>C), RS1002169962 (3:196712063 G>C,T), RS1002320663 (3:196710864 A>C), RS1002559162 (3:196711144 T>G), RS1002926723 (3:196713171 C>T), RS1003598054 (3:196707273 C>T), RS1003853643 (3:196713407 A>G), RS1004115393 (3:196707036 T>C,G), RS1004609734 (3:196711739 G>C), RS1004852553 (3:196706111 T>C), RS1005275470 (3:196713861 G>A,T), RS1006139995 (3:196714095 CTAATT>C)
Disease associations
OMIM: gene MIM:615586 | disease phenotypes: MIM:615703, MIM:609425, MIM:209900, MIM:181500
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| obesity due to CEP19 deficiency | Strong | Autosomal recessive |
| Bardet-Biedl syndrome | Supportive | Autosomal recessive |
Mondo (5): optic atrophy (MONDO:0003608), obesity due to CEP19 deficiency (MONDO:0014309), chromosome 3q29 microdeletion syndrome (MONDO:0012269), Bardet-Biedl syndrome (MONDO:0015229), schizophrenia (MONDO:0005090)
Orphanet (4): Obesity due to CEP19 deficiency (Orphanet:397615), 3q29 microdeletion syndrome (Orphanet:65286), Bardet-Biedl syndrome (Orphanet:110), NON RARE IN EUROPE: Schizophrenia (Orphanet:3140)
HPO phenotypes
103 total (30 of 103 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000011 | Neurogenic bladder |
| HP:0000027 | Azoospermia |
| HP:0000028 | Cryptorchidism |
| HP:0000076 | Vesicoureteral reflux |
| HP:0000085 | Horseshoe kidney |
| HP:0000100 | Nephrotic syndrome |
| HP:0000119 | Abnormality of the genitourinary system |
| HP:0000126 | Hydronephrosis |
| HP:0000135 | Hypogonadism |
| HP:0000147 | Polycystic ovaries |
| HP:0000163 | Abnormal oral cavity morphology |
| HP:0000218 | High palate |
| HP:0000278 | Retrognathia |
| HP:0000316 | Hypertelorism |
| HP:0000343 | Long philtrum |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000365 | Hearing impairment |
| HP:0000388 | Otitis media |
| HP:0000400 | Macrotia |
| HP:0000426 | Prominent nasal bridge |
| HP:0000470 | Short neck |
| HP:0000483 | Astigmatism |
| HP:0000486 | Strabismus |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000512 | Abnormal electroretinogram |
| HP:0000518 | Cataract |
| HP:0000548 | Cone/cone-rod dystrophy |
| HP:0000551 | Color vision defect |
| HP:0000556 | Retinal dystrophy |
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005038_10 | Allergic disease (asthma, hay fever or eczema) | 2.000000e-12 |
| GCST007798_62 | Asthma | 9.000000e-13 |
| GCST009391_625 | Metabolite levels | 1.000000e-06 |
| GCST009798_34 | Asthma | 4.000000e-12 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010506 | kynurenic acid measurement |
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D020788 | Bardet-Biedl Syndrome | C10.228.140.617.200; C11.270.684.624; C16.131.077.245.125; C16.320.184.125 |
| D009896 | Optic Atrophy | C10.292.700.225; C11.640.451 |
| C567184 | Chromosome 3q29 Deletion Syndrome (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 5 |
| Benzo(a)pyrene | decreases expression, increases expression | 2 |
| Smoke | decreases expression, increases abundance, increases expression | 2 |
| Tetrachlorodibenzodioxin | increases expression | 2 |
| Particulate Matter | affects cotreatment, increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| urushiol | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases expression | 1 |
| trichostatin A | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance | 1 |
| manganese chloride | increases abundance, affects cotreatment, 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 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Glyphosate | decreases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Cisplatin | increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00000374 | PHASE4 | COMPLETED | Treatment for First-Episode Schizophrenia |
| NCT00001656 | PHASE4 | COMPLETED | Comparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders |
| NCT00007774 | PHASE4 | COMPLETED | To Determine if Olanzapine is More Cost Effective Than Haloperidol for the Treatment of Schizophrenia |
| NCT00014001 | PHASE4 | COMPLETED | CATIE- Schizophrenia Trial |
| NCT00018668 | PHASE4 | COMPLETED | Antipsychotic Response in Schizophrenia |
| NCT00034801 | PHASE4 | COMPLETED | Olanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia |
| NCT00034905 | PHASE4 | COMPLETED | A Comparison of Seroquel vs. Risperidone in Schizophrenia |
| NCT00036088 | PHASE4 | COMPLETED | Olanzapine Versus An Active Comparator in the Treatment of Schizophrenia |
| NCT00044187 | PHASE4 | COMPLETED | The Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder |
| NCT00044655 | PHASE4 | COMPLETED | Switching Medication to Treat Schizophrenia |
| NCT00048828 | PHASE4 | COMPLETED | Treating Drug-Resistant Childhood Schizophrenia |
| NCT00053703 | PHASE4 | COMPLETED | Treatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS) |
| NCT00056498 | PHASE4 | COMPLETED | Risperidone Treatment in Schizophrenia Patients Who Are Currently Taking Clozapine |
| NCT00061802 | PHASE4 | COMPLETED | Efficacy and Safety of Two Atypical Antipsychotics vs. Placebo in Patients With an Acute Exacerbation of Either Schizophrenia or Schizoaffective Disorder |
| NCT00080327 | PHASE4 | COMPLETED | Study of Three Doses of Aripiprazole in Patients With Acute Schizophrenia |
| NCT00088049 | PHASE4 | COMPLETED | Study of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia |
| NCT00090012 | PHASE4 | COMPLETED | Comparison of Continuing Olanzapine to Switching to Quetiapine in Overweight or Obese Patients With Schizophrenia and Schizoaffective Disorder |
| NCT00100776 | PHASE4 | COMPLETED | Efficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder |
| NCT00103571 | PHASE4 | COMPLETED | Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia |
| NCT00108368 | PHASE4 | COMPLETED | The Effects of Risperidone and Olanzapine on Thinking |
| NCT00114595 | PHASE4 | COMPLETED | Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia |
| NCT00130923 | PHASE4 | COMPLETED | Risperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder |
| NCT00137020 | PHASE4 | COMPLETED | Clinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder |
| NCT00140166 | PHASE4 | COMPLETED | Treatment of Acute Schizophrenia With Vitamin Therapy |
| NCT00145847 | PHASE4 | COMPLETED | Naltrexone Treatment of Alcohol Abuse in Schizophrenia |
| NCT00148564 | PHASE4 | COMPLETED | Energy Homeostasis Under Treatment With Atypical Antipsychotics |
| NCT00156715 | PHASE4 | COMPLETED | Efficacy of Quetiapine in the Treatment of Patients With Schizophrenia and a Comorbid Substance Use Disorder |
| NCT00158223 | PHASE4 | COMPLETED | Effectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia |
| NCT00159081 | PHASE4 | COMPLETED | One Year Drug Treatment in First-Episode Schizophrenia |
| NCT00159120 | PHASE4 | COMPLETED | Maintenance Treatment vs. Stepwise Drug Discontinuation in First-Episode Schizophrenia |
| NCT00159133 | PHASE4 | COMPLETED | Prodrome-Based Early Intervention With Antipsychotics vs. Benzodiazepines in First-Episode Schizophrenia |
| NCT00159757 | PHASE4 | TERMINATED | 12 Week Open, Non-Comparative Switch Study Of Oral Ziprazidone In Previously Treated Schizophrenic Patients |
| NCT00167817 | PHASE4 | COMPLETED | Effect of Switch to Aripiprazole on Health and Smoking Parameters in Patients With Schizophrenia: A Pilot Study |
| NCT00169026 | PHASE4 | TERMINATED | Alcoholism and Schizophrenia: Effects of Clozapine |
| NCT00169039 | PHASE4 | TERMINATED | Clozapine Versus Chlorpromazine for Treatment-Unresponsive Schizophrenia |
| NCT00169065 | PHASE4 | COMPLETED | Effectiveness of Clozapine Versus Olanzapine for Treatment-resistant Schizophrenia |
| NCT00169091 | PHASE4 | TERMINATED | Clozapine Versus Haloperidol for Treating the First Episode of Schizophrenia |
| NCT00176423 | PHASE4 | COMPLETED | Efficacy Study of Galantamine for Cognitive Impairments in Schizophrenia |
| NCT00176436 | PHASE4 | COMPLETED | Atomoxetine for Treatment of Weight Gain in Olanzapine or Clozapine Patients |
| NCT00177008 | PHASE4 | COMPLETED | Aripiprazole for the Treatment of Schizophrenia With Co-Morbid Social Anxiety |
Related Atlas pages
- Associated diseases: obesity due to CEP19 deficiency, Bardet-Biedl syndrome 2
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Bardet-Biedl syndrome, chromosome 3q29 microdeletion syndrome, obesity due to CEP19 deficiency