ENTREP1
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Also known as X123ENTREP
Summary
ENTREP1 (endosomal transmembrane epsin interactor 1, HGNC:24820) is a protein-coding gene on chromosome 9q21.12, encoding Endosomal transmembrane epsin interactor 1 (Q15884). Functions as an activator of the E3 ubiquitin protein ligase ITCH in the ubiquitination of the CXCL12-activated CXCR4 receptor.
Enables ubiquitin ligase activator activity. Involved in CXCL12-activated CXCR4 signaling pathway and negative adaptation of signaling pathway. Located in endosome membrane and plasma membrane.
Source: NCBI Gene 9413 — RefSeq curated summary.
At a glance
- Gene–disease (curated): schizophrenia (No Known Disease Relationship, GenCC)
- GWAS associations: 2
- Clinical variants (ClinVar): 140 total
- MANE Select transcript:
NM_001347995
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24820 |
| Approved symbol | ENTREP1 |
| Name | endosomal transmembrane epsin interactor 1 |
| Location | 9q21.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | X123, ENTREP |
| Ensembl gene | ENSG00000135063 |
| Ensembl biotype | protein_coding |
| OMIM | 607710 |
| Entrez | 9413 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 7 protein_coding, 3 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000257515, ENST00000303068, ENST00000377216, ENST00000455972, ENST00000460871, ENST00000469179, ENST00000643727, ENST00000645123, ENST00000645516, ENST00000911498, ENST00000956508, ENST00000956509, ENST00000956510
RefSeq mRNA: 3 — MANE Select: NM_001347995
NM_001127608, NM_001347995, NM_004816
CCDS: CCDS6629, CCDS87658
Canonical transcript exons
ENST00000303068 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001773387 | 69371499 | 69371609 |
| ENSE00003515721 | 69383947 | 69384025 |
| ENSE00003525288 | 69377611 | 69377744 |
| ENSE00003567738 | 69388158 | 69388450 |
| ENSE00003660631 | 69385795 | 69385947 |
| ENSE00003680182 | 69377370 | 69377477 |
| ENSE00003680915 | 69383630 | 69383759 |
| ENSE00003691570 | 69375736 | 69375864 |
| ENSE00003819766 | 69325215 | 69325723 |
| ENSE00003823211 | 69336213 | 69336269 |
| ENSE00003829037 | 69391601 | 69392456 |
Expression profiles
Bgee: expression breadth ubiquitous, 241 present calls, max score 97.54.
FANTOM5 (CAGE): breadth broad, TPM avg 4.9300 / max 118.1382, expressed in 742 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 96843 | 2.7422 | 680 |
| 96838 | 1.1003 | 236 |
| 96842 | 0.5143 | 266 |
| 96841 | 0.4151 | 222 |
| 96839 | 0.0974 | 57 |
| 96840 | 0.0608 | 32 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left lobe of thyroid gland | UBERON:0001120 | 97.54 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.51 | gold quality |
| thyroid gland | UBERON:0002046 | 97.20 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 94.42 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 93.83 | gold quality |
| triceps brachii | UBERON:0001509 | 93.44 | gold quality |
| secondary oocyte | CL:0000655 | 93.27 | gold quality |
| gastrocnemius | UBERON:0001388 | 92.62 | gold quality |
| gluteal muscle | UBERON:0002000 | 92.46 | gold quality |
| muscle of leg | UBERON:0001383 | 92.19 | gold quality |
| left ovary | UBERON:0002119 | 92.13 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 91.65 | gold quality |
| muscle organ | UBERON:0001630 | 91.65 | gold quality |
| apex of heart | UBERON:0002098 | 91.34 | gold quality |
| right lung | UBERON:0002167 | 91.16 | gold quality |
| oocyte | CL:0000023 | 91.13 | gold quality |
| deltoid | UBERON:0001476 | 90.67 | silver quality |
| biceps brachii | UBERON:0001507 | 90.38 | gold quality |
| right ovary | UBERON:0002118 | 90.36 | gold quality |
| muscle tissue | UBERON:0002385 | 90.30 | gold quality |
| vastus lateralis | UBERON:0001379 | 90.11 | silver quality |
| right uterine tube | UBERON:0001302 | 89.67 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 89.59 | gold quality |
| diaphragm | UBERON:0001103 | 89.45 | silver quality |
| quadriceps femoris | UBERON:0001377 | 89.14 | silver quality |
| tibialis anterior | UBERON:0001385 | 88.83 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 88.81 | gold quality |
| lower esophagus | UBERON:0013473 | 88.76 | gold quality |
| heart left ventricle | UBERON:0002084 | 88.19 | gold quality |
| cardiac ventricle | UBERON:0002082 | 87.91 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.56 |
| E-HCAD-25 | yes | 4.44 |
| E-GEOD-109979 | no | 139.75 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CTNNB1
miRNA regulators (miRDB)
33 targeting ENTREP1, 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-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-7152-5P | 99.60 | 69.33 | 2094 |
| HSA-MIR-3153 | 99.55 | 67.59 | 2337 |
| HSA-MIR-6727-3P | 99.49 | 65.92 | 1333 |
| HSA-MIR-19A-5P | 99.36 | 66.93 | 1675 |
| HSA-MIR-19B-1-5P | 99.36 | 67.07 | 1669 |
| HSA-MIR-19B-2-5P | 99.36 | 67.07 | 1669 |
| HSA-MIR-4722-3P | 99.35 | 65.22 | 1099 |
| HSA-MIR-4311 | 99.31 | 70.47 | 3041 |
| HSA-MIR-6734-3P | 99.15 | 66.27 | 1627 |
| HSA-MIR-6738-3P | 99.03 | 67.14 | 1326 |
| HSA-MIR-922 | 99.02 | 67.23 | 1838 |
| HSA-MIR-5001-3P | 98.91 | 67.28 | 1394 |
| HSA-MIR-4774-3P | 98.90 | 67.82 | 737 |
| HSA-MIR-1304-5P | 98.90 | 68.58 | 1054 |
| HSA-MIR-3074-5P | 98.82 | 66.56 | 1414 |
| HSA-MIR-2467-3P | 98.65 | 67.18 | 1969 |
| HSA-MIR-3188 | 98.58 | 65.60 | 878 |
| HSA-MIR-374C-3P | 98.47 | 67.93 | 451 |
| HSA-MIR-6873-5P | 98.45 | 66.14 | 1417 |
| HSA-MIR-6804-5P | 98.39 | 65.77 | 1084 |
| HSA-MIR-4799-3P | 97.78 | 65.97 | 893 |
| HSA-MIR-4720-5P | 97.46 | 65.67 | 893 |
| HSA-MIR-5588-5P | 97.46 | 65.70 | 913 |
| HSA-MIR-4448 | 97.04 | 66.22 | 752 |
Literature-anchored findings (GeneRIF, showing 2)
- ENTREP/FAM189A2 encodes a new ITCH ubiquitin ligase activator that is downregulated in breast cancer. (PMID:34927784)
- FAM189A2 plays a tumour suppressor role in lung adenocarcinoma by influencing cell apoptosis, CXCR4 expression and tight junction proteins. (PMID:38878656)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fam189a2 | ENSDARG00000099946 |
| mus_musculus | Entrep1 | ENSMUSG00000071604 |
| rattus_norvegicus | Entrep1 | ENSRNOG00000061147 |
Paralogs (2): ENTREP2 (ENSG00000104059), ENTREP3 (ENSG00000160767)
Protein
Protein identifiers
Endosomal transmembrane epsin interactor 1 — Q15884 (reviewed: Q15884)
Alternative names: Endosomal transmembrane binding with epsin
All UniProt accessions (2): A0A0A0MRU1, Q15884
UniProt curated annotations — full annotation on UniProt →
Function. Functions as an activator of the E3 ubiquitin protein ligase ITCH in the ubiquitination of the CXCL12-activated CXCR4 receptor. Thereby, triggers CXCR4 endocytosis and desensitization, negatively regulating the CXCL12/CXCR4 signaling pathway.
Subunit / interactions. Interacts with ITCH; enhances the ubiquitination of CXCR4 by ITCH and the subsequent endocytosis and desensitization of the receptor. Interacts with EPN1.
Subcellular location. Early endosome membrane. Late endosome membrane. Recycling endosome membrane. Cell membrane.
Tissue specificity. Prominently expressed in muscle.
Post-translational modifications. Monoubiquitinated at Lys-274, Lys-329 and Lys-365 by ITCH.
Domain organisation. The cytoplasmic PPxY motifs mediate interaction with the WW domains of ITCH.
Similarity. Belongs to the ENTREP family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q15884-3 | 3, ENTREP | yes |
| Q15884-1 | 1 | |
| Q15884-4 | 4 |
RefSeq proteins (3): NP_001121080, NP_001334924, NP_004807 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR030431 | ENTREP1-3 | Family |
UniProt features (27 total): sequence conflict 6, cross-link 3, compositionally biased region 2, splice variant 2, sequence variant 2, mutagenesis site 2, topological domain 2, region of interest 2, short sequence motif 2, signal peptide 1, chain 1, modified residue 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q15884-F1 | 60.47 | 0.06 |
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 (4): 275, 274, 329, 365
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 151 | decreased interaction with itch and no effect on interaction with epn1; when associated with a-197. |
| 197 | decreased interaction with itch and no effect on interaction with epn1; when associated with a-151. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 137 (showing top):
MORF_RAGE, MORF_FLT1, GOBP_RESPONSE_TO_PEPTIDE, GOZGIT_ESR1_TARGETS_DN, MORF_ATRX, GOBP_VESICLE_MEDIATED_TRANSPORT, MORF_ESR1, MODULE_16, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, CAIRO_HEPATOBLASTOMA_CLASSES_DN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, MORF_PPP5C, BLALOCK_ALZHEIMERS_DISEASE_UP, MORF_FANCG, GOBP_RECEPTOR_INTERNALIZATION
GO Biological Process (3): negative adaptation of signaling pathway (GO:0022401), receptor internalization (GO:0031623), CXCL12-activated CXCR4 signaling pathway (GO:0038160)
GO Molecular Function (2): ubiquitin ligase activator activity (GO:1990757), protein binding (GO:0005515)
GO Cellular Component (6): plasma membrane (GO:0005886), early endosome membrane (GO:0031901), late endosome membrane (GO:0031902), recycling endosome membrane (GO:0055038), endosome (GO:0005768), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| endosome membrane | 3 |
| negative regulation of signal transduction | 1 |
| adaptation of signaling pathway | 1 |
| receptor-mediated endocytosis | 1 |
| chemokine (C-X-C motif) ligand 12 signaling pathway | 1 |
| C-X-C chemokine receptor CXCR4 signaling pathway | 1 |
| ubiquitin-protein transferase activator activity | 1 |
| positive regulation of ubiquitin protein ligase activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| early endosome | 1 |
| late endosome | 1 |
| recycling endosome | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
898 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ENTREP1 | TJP2 | Q9UDY2 | 851 |
| ENTREP1 | TSPO | P30536 | 824 |
| ENTREP1 | TMC1 | Q8TDI8 | 761 |
| ENTREP1 | BAAT | Q14032 | 634 |
| ENTREP1 | APBA1 | Q02410 | 547 |
| ENTREP1 | SOWAHA | Q2M3V2 | 525 |
| ENTREP1 | C2orf80 | Q0P641 | 479 |
| ENTREP1 | ZNF497 | Q6ZNH5 | 476 |
| ENTREP1 | BCL2L1 | Q07817 | 470 |
| ENTREP1 | MANSC1 | Q9H8J5 | 468 |
| ENTREP1 | DNASE2B | Q8WZ79 | 454 |
| ENTREP1 | RNF208 | Q9H0X6 | 447 |
| ENTREP1 | GSK3B | P49841 | 436 |
| ENTREP1 | SAFB | Q15424 | 424 |
| ENTREP1 | BCL2 | P10415 | 423 |
IntAct
74 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ENTREP1 | WWP2 | psi-mi:“MI:0914”(association) | 0.850 |
| ENTREP1 | WWP2 | psi-mi:“MI:0915”(physical association) | 0.850 |
| WWP2 | ENTREP1 | psi-mi:“MI:0915”(physical association) | 0.850 |
| ITCH | ENTREP1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| NEDD4 | ENTREP1 | psi-mi:“MI:0407”(direct interaction) | 0.690 |
| ENTREP1 | NEDD4 | psi-mi:“MI:0914”(association) | 0.690 |
| ENTREP1 | WWP1 | psi-mi:“MI:0915”(physical association) | 0.660 |
| ANKRD13D | ENTREP1 | psi-mi:“MI:0915”(physical association) | 0.660 |
| HECW2 | ENTREP1 | psi-mi:“MI:0915”(physical association) | 0.660 |
| NEDD4L | ENTREP1 | psi-mi:“MI:0915”(physical association) | 0.660 |
| YWHAZ | ENTREP1 | psi-mi:“MI:0915”(physical association) | 0.660 |
| EPN1 | ENTREP1 | psi-mi:“MI:0915”(physical association) | 0.580 |
| EPN1 | ENTREP1 | psi-mi:“MI:0403”(colocalization) | 0.580 |
| EPN1 | ENTREP1 | psi-mi:“MI:2364”(proximity) | 0.580 |
| ITCH | ENTREP1 | psi-mi:“MI:0915”(physical association) | 0.570 |
| ENTREP1 | ITCH | psi-mi:“MI:0403”(colocalization) | 0.570 |
| ENTREP1 | ITCH | psi-mi:“MI:2364”(proximity) | 0.570 |
| MYO6 | ENTREP1 | psi-mi:“MI:0915”(physical association) | 0.550 |
| PCNX3 | ENTREP1 | psi-mi:“MI:0915”(physical association) | 0.550 |
| YWHAE | ENTREP1 | psi-mi:“MI:0915”(physical association) | 0.550 |
| ITCH | CXCR4 | psi-mi:“MI:0914”(association) | 0.540 |
| ENTREP1 | WWP2 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (178): FAM189A2 (Two-hybrid), CALCOCO2 (Two-hybrid), STAM2 (Two-hybrid), WWP1 (Two-hybrid), WWP2 (Two-hybrid), UBQLN1 (Two-hybrid), UBXN1 (Two-hybrid), TMPPE (Affinity Capture-MS), GJC1 (Affinity Capture-MS), GJA1 (Affinity Capture-MS), CHPT1 (Affinity Capture-MS), TRIM32 (Affinity Capture-MS), DNAJC1 (Affinity Capture-MS), ABCA3 (Affinity Capture-MS), SLC26A2 (Affinity Capture-MS)
ESM2 similar proteins: A0PJX4, A2A8U2, A4D2P6, A6QM06, D4A6L0, E1BBQ2, O15079, O60320, P12755, P49797, P97260, Q0D2I5, Q12770, Q15884, Q1RMB5, Q3TS39, Q3UPR0, Q4FZH1, Q5MNU5, Q5SNT2, Q5T848, Q5XKK7, Q60698, Q6A044, Q7T0Z7, Q7TMB0, Q7TPB0, Q810F0, Q86XR5, Q8BX43, Q8BXL9, Q8C419, Q8CA71, Q8K064, Q8K2Y3, Q8N114, Q8NDY8, Q8WV15, Q91WM6, Q92537
Diamond homologs: O60320, P81408, Q15884, Q4FZH1, Q5HZJ5, Q6A044
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 56 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Translesion synthesis by POLI | 6 | 89.6× | 6e-09 |
| Regulation of innate immune responses to cytosolic DNA | 5 | 84.6× | 1e-07 |
| InlB-mediated entry of Listeria monocytogenes into host cell | 5 | 84.6× | 1e-07 |
| Regulation of TBK1, IKKε (IKBKE)-mediated activation of IRF3, IRF7 | 5 | 84.6× | 1e-07 |
| Translesion Synthesis by POLH | 6 | 80.1× | 9e-09 |
| Translesion synthesis by REV1 | 5 | 79.3× | 1e-07 |
| Translesion synthesis by POLK | 5 | 70.5× | 2e-07 |
| Activation of IRF3, IRF7 mediated by TBK1, IKKε (IKBKE) | 5 | 66.8× | 2e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein K63-linked ubiquitination | 6 | 29.7× | 5e-06 |
| double-strand break repair | 5 | 18.8× | 4e-04 |
| protein K48-linked ubiquitination | 6 | 18.7× | 7e-05 |
| ubiquitin-dependent protein catabolic process | 11 | 15.1× | 3e-08 |
| protein ubiquitination | 17 | 13.0× | 2e-12 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 8 | 7.7× | 4e-04 |
| DNA repair | 6 | 7.1× | 4e-03 |
| DNA damage response | 7 | 6.9× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
140 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 79 |
| Likely benign | 22 |
| Benign | 25 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2578 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:69382571:G:GT | donor_gain | 1.0000 |
| 9:69383628:AGGAT:A | acceptor_gain | 1.0000 |
| 9:69383629:GGATG:G | acceptor_gain | 1.0000 |
| 9:69383756:GCAGG:G | donor_loss | 1.0000 |
| 9:69383757:CAGG:C | donor_loss | 1.0000 |
| 9:69383758:AGGT:A | donor_loss | 1.0000 |
| 9:69383759:GGTAC:G | donor_loss | 1.0000 |
| 9:69383760:G:GA | donor_loss | 1.0000 |
| 9:69384021:TCAAG:T | donor_loss | 1.0000 |
| 9:69384022:CAAGG:C | donor_loss | 1.0000 |
| 9:69384023:AAGG:A | donor_loss | 1.0000 |
| 9:69384025:GGTA:G | donor_loss | 1.0000 |
| 9:69384026:GTA:G | donor_loss | 1.0000 |
| 9:69384027:T:A | donor_loss | 1.0000 |
| 9:69336266:CCTGG:C | donor_loss | 0.9900 |
| 9:69336267:CTGG:C | donor_loss | 0.9900 |
| 9:69336268:TGG:T | donor_loss | 0.9900 |
| 9:69336269:GGTA:G | donor_loss | 0.9900 |
| 9:69336270:G:GC | donor_loss | 0.9900 |
| 9:69336270:G:GG | donor_gain | 0.9900 |
| 9:69336271:T:A | donor_loss | 0.9900 |
| 9:69371607:CTGG:C | donor_loss | 0.9900 |
| 9:69371608:TGGTA:T | donor_loss | 0.9900 |
| 9:69371609:GG:G | donor_loss | 0.9900 |
| 9:69371610:G:A | donor_loss | 0.9900 |
| 9:69371611:T:G | donor_loss | 0.9900 |
| 9:69371612:AAGCA:A | donor_loss | 0.9900 |
| 9:69375731:TTAA:T | acceptor_loss | 0.9900 |
| 9:69375732:TAA:T | acceptor_loss | 0.9900 |
| 9:69375733:AAGGT:A | acceptor_gain | 0.9900 |
AlphaMissense
3836 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:69371550:G:A | G22R | 0.999 |
| 9:69371550:G:C | G22R | 0.999 |
| 9:69371551:G:A | G22E | 0.999 |
| 9:69375760:T:C | C50R | 0.999 |
| 9:69375762:C:G | C50W | 0.999 |
| 9:69375767:G:A | C52Y | 0.999 |
| 9:69375839:G:A | C76Y | 0.999 |
| 9:69377418:T:C | C101R | 0.999 |
| 9:69371529:T:C | C15R | 0.998 |
| 9:69371545:T:C | L20P | 0.998 |
| 9:69371601:T:A | C39S | 0.998 |
| 9:69371601:T:C | C39R | 0.998 |
| 9:69371602:G:A | C39Y | 0.998 |
| 9:69371602:G:C | C39S | 0.998 |
| 9:69375760:T:A | C50S | 0.998 |
| 9:69375761:G:A | C50Y | 0.998 |
| 9:69375761:G:C | C50S | 0.998 |
| 9:69375766:T:C | C52R | 0.998 |
| 9:69375768:T:G | C52W | 0.998 |
| 9:69375815:T:C | L68S | 0.998 |
| 9:69375838:T:C | C76R | 0.998 |
| 9:69375840:T:G | C76W | 0.998 |
| 9:69375860:T:C | L83P | 0.998 |
| 9:69377388:T:C | C91R | 0.998 |
| 9:69377401:C:A | A95D | 0.998 |
| 9:69377416:T:A | V100D | 0.998 |
| 9:69371543:T:A | N19K | 0.997 |
| 9:69371543:T:G | N19K | 0.997 |
| 9:69371603:T:G | C39W | 0.997 |
| 9:69375766:T:A | C52S | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000064870 (9:69366747 T>A), RS1000069 (9:69338730 A>G), RS1000090609 (9:69369475 T>C), RS1000129981 (9:69325926 T>C), RS1000133368 (9:69359570 C>T), RS1000197785 (9:69358080 A>G), RS1000258078 (9:69373005 CTT>C), RS1000379212 (9:69332397 T>A), RS1000381672 (9:69390275 A>C,T), RS1000395430 (9:69350188 T>C), RS1000397795 (9:69356452 G>A,T), RS1000422793 (9:69349962 A>G), RS1000475086 (9:69390601 G>A,T), RS1000499752 (9:69358060 A>G), RS1000504077 (9:69359108 G>A)
Disease associations
OMIM: gene MIM:607710 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| schizophrenia | No Known Disease Relationship | Unknown |
Mondo (2): prostate cancer (MONDO:0008315), schizophrenia (MONDO:0005090)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006281_19 | Coronary artery disease in type 1 diabetes | 9.000000e-06 |
| GCST006281_20 | Coronary artery disease in type 1 diabetes | 9.000000e-06 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Nickel | decreases expression | 2 |
| Oxygen | increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Silicon Dioxide | increases expression, decreases expression | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| propionaldehyde | increases expression | 1 |
| trichostatin A | decreases expression | 1 |
| sulforaphane | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| tricetin | increases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Calcitriol | affects cotreatment, increases expression | 1 |
| Coumestrol | affects cotreatment, decreases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| N-Nitrosopyrrolidine | increases expression | 1 |
| Rotenone | decreases expression | 1 |
| Dihydrotestosterone | increases expression | 1 |
| Testosterone | affects cotreatment, increases expression | 1 |
Clinical trials (associated diseases)
600 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: schizophrenia