IGLL5
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Summary
IGLL5 (immunoglobulin lambda like polypeptide 5, HGNC:38476) is a protein-coding gene on chromosome 22q11.22, encoding Immunoglobulin lambda-like polypeptide 5 (B9A064).
This gene encodes one of the immunoglobulin lambda-like polypeptides. It is located within the immunoglobulin lambda locus but it does not require somatic rearrangement for expression. The first exon of this gene is unrelated to immunoglobulin variable genes; the second and third exons are the immunoglobulin lambda joining 1 and the immunoglobulin lambda constant 1 gene segments. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 100423062 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 5 total — 1 pathogenic, 2 likely-pathogenic
- Phenotypes (HPO): 2
- MANE Select transcript:
NM_001178126
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:38476 |
| Approved symbol | IGLL5 |
| Name | immunoglobulin lambda like polypeptide 5 |
| Location | 22q11.22 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000254709 |
| Ensembl biotype | protein_coding |
| Entrez | 100423062 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 3 protein_coding
ENST00000526893, ENST00000531372, ENST00000532223
RefSeq mRNA: 2 — MANE Select: NM_001178126
NM_001178126, NM_001256296
CCDS: CCDS54506
Canonical transcript exons
ENST00000526893 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002167426 | 22893700 | 22893818 |
| ENSE00003661571 | 22895375 | 22896111 |
| ENSE00003893621 | 22887816 | 22888259 |
Expression profiles
Bgee: expression breadth ubiquitous, 117 present calls, max score 99.28.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 5.4673 / max 1464.1072, expressed in 96 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 191257 | 8.6189 | 96 |
| 191274 | 5.4673 | 96 |
| 191230 | 0.5992 | 58 |
| 191275 | 0.2212 | 14 |
Top tissues by expression
126 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| duodenum | UBERON:0002114 | 99.28 | gold quality |
| rectum | UBERON:0001052 | 98.74 | gold quality |
| bone marrow cell | CL:0002092 | 98.54 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 98.36 | gold quality |
| lymph node | UBERON:0000029 | 98.14 | gold quality |
| spleen | UBERON:0002106 | 98.07 | gold quality |
| tonsil | UBERON:0002372 | 98.04 | gold quality |
| vermiform appendix | UBERON:0001154 | 97.88 | gold quality |
| bone marrow | UBERON:0002371 | 96.78 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 93.69 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 91.20 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 90.50 | gold quality |
| minor salivary gland | UBERON:0001830 | 90.46 | gold quality |
| gall bladder | UBERON:0002110 | 90.38 | gold quality |
| small intestine | UBERON:0002108 | 90.34 | gold quality |
| transverse colon | UBERON:0001157 | 88.89 | gold quality |
| colonic epithelium | UBERON:0000397 | 88.32 | gold quality |
| blood | UBERON:0000178 | 85.25 | gold quality |
| granulocyte | CL:0000094 | 85.11 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 83.93 | gold quality |
| body of stomach | UBERON:0001161 | 83.83 | gold quality |
| stomach | UBERON:0000945 | 81.29 | gold quality |
| left uterine tube | UBERON:0001303 | 80.82 | gold quality |
| fundus of stomach | UBERON:0001160 | 80.51 | gold quality |
| lung | UBERON:0002048 | 79.69 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 78.52 | silver quality |
| intestine | UBERON:0000160 | 78.27 | gold quality |
| fallopian tube | UBERON:0003889 | 76.87 | gold quality |
| right coronary artery | UBERON:0001625 | 76.55 | gold quality |
| leukocyte | CL:0000738 | 76.54 | gold quality |
Single-cell (SCXA)
Detected in 24 experiment(s), a significant marker in 23.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8410 | yes | 100526.88 |
| E-CURD-88 | yes | 87577.46 |
| E-MTAB-9543 | yes | 46286.78 |
| E-MTAB-6653 | yes | 44888.79 |
| E-MTAB-6308 | yes | 38658.51 |
| E-MTAB-9467 | yes | 38281.76 |
| E-HCAD-9 | yes | 31692.58 |
| E-HCAD-11 | yes | 30422.17 |
| E-HCAD-4 | yes | 29458.27 |
| E-MTAB-10553 | yes | 23287.89 |
| E-MTAB-8495 | yes | 14347.21 |
| E-MTAB-8207 | yes | 6402.87 |
| E-CURD-112 | yes | 2439.85 |
| E-MTAB-9067 | yes | 2166.48 |
| E-CURD-46 | yes | 74.67 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): RUNX1
miRNA regulators (miRDB)
17 targeting IGLL5, 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-6744-5P | 99.93 | 66.82 | 748 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-5001-5P | 99.05 | 66.76 | 1972 |
| HSA-MIR-3145-3P | 98.85 | 69.07 | 2031 |
| HSA-MIR-6755-3P | 98.61 | 66.90 | 834 |
| HSA-MIR-5572 | 98.55 | 65.84 | 970 |
| HSA-MIR-193B-5P | 97.91 | 65.88 | 837 |
| HSA-MIR-6855-5P | 97.51 | 66.03 | 830 |
| HSA-MIR-410-5P | 96.55 | 66.28 | 459 |
| HSA-MIR-323B-5P | 96.12 | 66.39 | 472 |
| HSA-MIR-3170 | 95.84 | 64.32 | 721 |
| HSA-MIR-494-5P | 95.31 | 66.29 | 463 |
| HSA-MIR-3679-5P | 94.75 | 66.46 | 862 |
| HSA-MIR-1185-5P | 94.47 | 65.95 | 725 |
Literature-anchored findings (GeneRIF, showing 1)
- IGLL5 is correlated with tumor-infiltrating immune cells in clear cell renal cell carcinoma. (PMID:33449444)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Iglc2 | ENSMUSG00000076937 |
| mus_musculus | Iglc3 | ENSMUSG00000105547 |
| mus_musculus | Iglc1 | ENSMUSG00000105906 |
| mus_musculus | Iglc4 | ENSMUSG00000106039 |
| rattus_norvegicus | Iglc1 | ENSRNOG00000058590 |
| rattus_norvegicus | ENSRNOG00000077205 | |
| rattus_norvegicus | ENSRNOG00000079313 | |
| rattus_norvegicus | ENSRNOG00000086508 |
Paralogs (82): IGLL1 (ENSG00000128322), IGHV1OR15-9 (ENSG00000188403), IGKC (ENSG00000211592), IGLC1 (ENSG00000211675), IGLC2 (ENSG00000211677), IGLC3 (ENSG00000211679), IGLC7 (ENSG00000211685), TRDC (ENSG00000211829), IGHA2 (ENSG00000211890), IGHE (ENSG00000211891), IGHG4 (ENSG00000211892), IGHG2 (ENSG00000211893), IGHA1 (ENSG00000211895), IGHG1 (ENSG00000211896), IGHG3 (ENSG00000211897), IGHD (ENSG00000211898), IGHM (ENSG00000211899), IGHV6-1 (ENSG00000211933), IGHV1-2 (ENSG00000211934), IGHV1-3 (ENSG00000211935), IGHV2-5 (ENSG00000211937), IGHV3-7 (ENSG00000211938), IGHV3-11 (ENSG00000211941), IGHV3-13 (ENSG00000211942), IGHV3-15 (ENSG00000211943), IGHV3-16 (ENSG00000211944), IGHV1-18 (ENSG00000211945), IGHV3-20 (ENSG00000211946), IGHV3-21 (ENSG00000211947), IGHV3-23 (ENSG00000211949), IGHV1-24 (ENSG00000211950), IGHV2-26 (ENSG00000211951), IGHV4-28 (ENSG00000211952), IGHV3-33 (ENSG00000211955), IGHV4-34 (ENSG00000211956), IGHV3-35 (ENSG00000211957), IGHV3-38 (ENSG00000211958), IGHV4-39 (ENSG00000211959), IGHV1-45 (ENSG00000211961), IGHV1-46 (ENSG00000211962)
Protein
Protein identifiers
Immunoglobulin lambda-like polypeptide 5 — B9A064 (reviewed: B9A064)
Alternative names: G lambda-1, Germline immunoglobulin lambda 1
All UniProt accessions (2): A0A0B4J231, B9A064
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Secreted.
Tissue specificity. Contrary to IGLL1, not expressed in pre-B-cells.
Miscellaneous. Located within the immunoglobulin lambda locus, but does not require somatic rearrangement for expression.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| B9A064-1 | 1 | yes |
| B9A064-2 | 2 |
RefSeq proteins (2): NP_001171597, NP_001243225 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003006 | Ig/MHC_CS | Conserved_site |
| IPR003597 | Ig_C1-set | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR050160 | MHC/Immunoglobulin | Family |
Pfam: PF07654
UniProt features (8 total): region of interest 2, splice variant 2, signal peptide 1, chain 1, domain 1, disulfide bond 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7T17 | ELECTRON MICROSCOPY | 5.26 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-B9A064-F1 | 75.15 | 0.51 |
Antibody-complex structures (SAbDab): 1 — 7T17
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (1): 136–195
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 51 (showing top):
IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_B_CELL_MEDIATED_IMMUNITY, GOBP_LYMPHOCYTE_MEDIATED_IMMUNITY, GOBP_ADAPTIVE_IMMUNE_RESPONSE, MORI_PRE_BI_LYMPHOCYTE_UP, GOBP_IMMUNE_EFFECTOR_PROCESS, RASHI_RESPONSE_TO_IONIZING_RADIATION_5, GOBP_ADAPTIVE_IMMUNE_RESPONSE_BASED_ON_SOMATIC_RECOMBINATION_OF_IMMUNE_RECEPTORS_BUILT_FROM_IMMUNOGLOBULIN_SUPERFAMILY_DOMAINS, GOCC_IMMUNOGLOBULIN_COMPLEX, YOSHIMURA_MAPK8_TARGETS_UP, MORI_IMMATURE_B_LYMPHOCYTE_DN, GOMF_ANTIGEN_BINDING, MORI_LARGE_PRE_BII_LYMPHOCYTE_UP, WANG_CISPLATIN_RESPONSE_AND_XPC_UP
GO Biological Process (1): immunoglobulin mediated immune response (GO:0016064)
GO Molecular Function (1): antigen binding (GO:0003823)
GO Cellular Component (3): extracellular exosome (GO:0070062), IgG immunoglobulin complex (GO:0071735), extracellular region (GO:0005576)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| B cell mediated immunity | 1 |
| binding | 1 |
| extracellular vesicle | 1 |
| immunoglobulin complex | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2076 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| IGLL5 | IGHV4-38-2 | P0DP08 | 999 |
| IGLL5 | CD79A | P11912 | 909 |
| IGLL5 | CD79B | P40259 | 857 |
| IGLL5 | MYC | P01106 | 795 |
| IGLL5 | VPREB1 | P12018 | 776 |
| IGLL5 | IKZF1 | Q13422 | 774 |
| IGLL5 | JCHAIN | P01591 | 699 |
| IGLL5 | TXNL1 | O43396 | 678 |
| IGLL5 | GGT2P | P36268 | 656 |
| IGLL5 | OR2H2 | O95918 | 647 |
| IGLL5 | RAG1 | P15918 | 623 |
| IGLL5 | RAG2 | P55895 | 622 |
| IGLL5 | OPN4 | Q9UHM6 | 607 |
| IGLL5 | CD19 | P15391 | 605 |
| IGLL5 | SUCO | Q9UBS9 | 605 |
IntAct
99 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| ALDH3A1 | RCCD1 | psi-mi:“MI:0914”(association) | 0.640 |
| IGLL5 | IGLC7 | psi-mi:“MI:0914”(association) | 0.530 |
| FRMD1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| TSPAN11 | IGLL5 | psi-mi:“MI:0914”(association) | 0.530 |
| CA8 | IGLL5 | psi-mi:“MI:0914”(association) | 0.530 |
| ULBP1 | IGLL5 | psi-mi:“MI:0914”(association) | 0.530 |
| DDX31 | IGLL5 | psi-mi:“MI:0914”(association) | 0.530 |
| ALDH3A1 | IGLL5 | psi-mi:“MI:0914”(association) | 0.530 |
| SSBP2 | CLEC18A | psi-mi:“MI:0914”(association) | 0.530 |
| RIBC1 | CNOT1 | psi-mi:“MI:0914”(association) | 0.530 |
| CFTR | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| TK1 | IGLL5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| JUN | psi-mi:“MI:0914”(association) | 0.350 | |
| ITGA9 | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
| ASCC1 | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
| SUSD3 | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
| SNX27 | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (152): IGLL5 (Affinity Capture-MS), IGLL5 (Affinity Capture-MS), IGLL5 (Affinity Capture-MS), IGLC7 (Affinity Capture-MS), IGLL1 (Affinity Capture-MS), IGLL5 (Affinity Capture-MS), IGLL5 (Affinity Capture-MS), IGLL5 (Affinity Capture-MS), IGLL5 (Affinity Capture-MS), IGLL5 (Affinity Capture-MS), IGLL5 (Affinity Capture-MS), IGLC3 (Affinity Capture-MS), IGLC2 (Affinity Capture-MS), IGLC7 (Affinity Capture-MS), IGLL5 (Affinity Capture-MS)
ESM2 similar proteins: A4D1S0, A4K2S4, A6NMD0, B9A064, F8WCM5, H7C350, O00220, O14931, O15533, O70146, O73895, O75298, O76081, P01854, P01883, P14138, P15692, P15814, P16382, P20764, P24394, P49763, P61484, P83743, Q00731, Q0VCS0, Q15569, Q3UM83, Q5R8H1, Q5RFR2, Q5TJE4, Q63257, Q63572, Q68D85, Q6P050, Q6PZD2, Q6WG24, Q7TQM3, Q863Z5, Q8MJ02
Diamond homologs: A0A0A0MT76, B9A064, P15814, A0A5B9, A0M8Q6, P01838, P01839, P01843, P01844, P01845, P01846, P01847, P01850, P01851, P01852, P01863, P01865, P01870, P01871, P01875, P01877, P03988, P04221, P06333, P0CF74, P0CG04, P0DOX2, P0DOX8, P0DOY2, P0DOY3, P0DSE2, P0DTU4, P11272, P11364, P14427, P20756, P20760, P20764, P20766, P20767
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
5 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 2 |
| Uncertain significance | 1 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 638672 | GRCh37/hg19 22q11.22-11.23(chr22:22971867-23643138) | Pathogenic |
| 545273 | NC_000022.11:g.(?22638171)(23320336_?)del | Likely pathogenic |
| 565006 | GRCh37/hg19 22q11.22-11.23(chr22:22997802-23650873)x1 | Likely pathogenic |
SpliceAI
319 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:22888257:CAGG:C | donor_loss | 0.9800 |
| 22:22888260:GT:G | donor_loss | 0.9800 |
| 22:22888261:T:A | donor_loss | 0.9800 |
| 22:22895370:CACA:C | acceptor_loss | 0.9800 |
| 22:22895372:CAG:C | acceptor_loss | 0.9800 |
| 22:22895373:A:AC | acceptor_loss | 0.9800 |
| 22:22895421:TG:T | acceptor_gain | 0.9800 |
| 22:22895422:G:GC | acceptor_gain | 0.9800 |
| 22:22888257:C:T | donor_gain | 0.9700 |
| 22:22888255:GGCAG:G | donor_gain | 0.9600 |
| 22:22888256:GCAGG:G | donor_gain | 0.9600 |
| 22:22895373:A:AG | acceptor_gain | 0.9600 |
| 22:22895374:G:GG | acceptor_gain | 0.9600 |
| 22:22895419:TCTG:T | acceptor_gain | 0.9600 |
| 22:22895374:GGTCA:G | acceptor_gain | 0.9500 |
| 22:22895418:CTCTG:C | acceptor_gain | 0.9500 |
| 22:22895420:CTG:C | acceptor_gain | 0.9500 |
| 22:22895421:TGAGG:T | acceptor_gain | 0.9500 |
| 22:22895371:A:AG | acceptor_gain | 0.9400 |
| 22:22888256:GCAG:G | donor_gain | 0.9300 |
| 22:22895374:GGTC:G | acceptor_gain | 0.9300 |
| 22:22895370:C:G | acceptor_gain | 0.9100 |
| 22:22888260:G:GG | donor_gain | 0.9000 |
| 22:22895372:C:G | acceptor_gain | 0.9000 |
| 22:22895411:C:CA | acceptor_gain | 0.8600 |
| 22:22895374:GGT:G | acceptor_gain | 0.8500 |
| 22:22895364:T:A | acceptor_gain | 0.8200 |
| 22:22895527:G:GT | donor_gain | 0.8200 |
| 22:22888223:G:GT | donor_gain | 0.8100 |
| 22:22895369:A:AG | acceptor_gain | 0.8100 |
AlphaMissense
1362 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:22895499:G:C | W150C | 0.997 |
| 22:22895499:G:T | W150C | 0.997 |
| 22:22895470:T:C | F141L | 0.996 |
| 22:22895472:C:A | F141L | 0.996 |
| 22:22895472:C:G | F141L | 0.996 |
| 22:22895610:G:C | W187C | 0.996 |
| 22:22895610:G:T | W187C | 0.996 |
| 22:22895497:T:A | W150R | 0.995 |
| 22:22895497:T:C | W150R | 0.995 |
| 22:22895581:A:C | S178R | 0.995 |
| 22:22895583:C:A | S178R | 0.995 |
| 22:22895583:C:G | S178R | 0.995 |
| 22:22895455:T:A | C136S | 0.993 |
| 22:22895455:T:C | C136R | 0.993 |
| 22:22895456:G:C | C136S | 0.993 |
| 22:22895632:T:A | C195S | 0.991 |
| 22:22895633:G:C | C195S | 0.991 |
| 22:22895608:T:A | W187R | 0.989 |
| 22:22895608:T:C | W187R | 0.989 |
| 22:22895456:G:A | C136Y | 0.988 |
| 22:22895459:T:C | L137P | 0.988 |
| 22:22895633:G:A | C195Y | 0.988 |
| 22:22895457:T:G | C136W | 0.987 |
| 22:22895632:T:C | C195R | 0.987 |
| 22:22895399:T:A | V117D | 0.985 |
| 22:22895575:G:C | A176P | 0.985 |
| 22:22895498:G:C | W150S | 0.984 |
| 22:22895578:A:C | S177R | 0.984 |
| 22:22895580:C:A | S177R | 0.984 |
| 22:22895580:C:G | S177R | 0.984 |
dbSNP variants (sampled 300 via entrez): RS1000284846 (22:22891718 CTTTG>C), RS1000491809 (22:22888175 C>A,G,T), RS1000506244 (22:22890807 T>C,G), RS1000842761 (22:22888050 G>A,T), RS1001171010 (22:22893181 C>A,T), RS1001228938 (22:22887229 A>C,G), RS1001448620 (22:22888491 C>A,G,T), RS1002132203 (22:22896272 G>A), RS1002546071 (22:22895182 T>C), RS1003791489 (22:22889330 G>A,C,T), RS1004182 (22:22893496 G>C), RS1004183 (22:22895015 G>A,C,T), RS1004732047 (22:22886788 A>G), RS1004743020 (22:22889878 G>T), RS1004793802 (22:22890160 C>G,T)
Disease associations
OMIM: gene `` | disease phenotypes: MIM:181500, MIM:207500, MIM:301800, MIM:614429
GenCC curated gene-disease
Mondo (3): schizophrenia (MONDO:0005090), imperforate anus (MONDO:0001046), ventricular septal defect (MONDO:0002070)
Orphanet (3): Non-syndromic anorectal malformation (Orphanet:557), NON RARE IN EUROPE: Schizophrenia (Orphanet:3140), NON RARE IN EUROPE: Ventricular septal defect (Orphanet:1480)
HPO phenotypes
2 total (2 of 2 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0100753 | Schizophrenia |
| HP:0001629 | Ventricular septal defect |
GWAS associations
0 associations (top):
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001006 | Anus, Imperforate | C06.198.050; C16.131.314.094 |
| D006345 | Heart Septal Defects, Ventricular | C14.240.400.560.540; C14.280.400.560.540; C16.131.240.400.560.540 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
9 total (human), top 9 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects cotreatment, decreases methylation, decreases expression | 2 |
| tetrathiomolybdate | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| Fulvestrant | decreases methylation, affects cotreatment | 1 |
| Microplastics | increases abundance, increases expression | 1 |
| Diuron | decreases expression | 1 |
| Polyethylene Terephthalates | increases abundance, increases expression | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Asbestos, Crocidolite | 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
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): imperforate anus, ventricular septal defect