APOBR
gene geneOn this page
Also known as APOB48RAPOB100R
Summary
APOBR (apolipoprotein B receptor, HGNC:24087) is a protein-coding gene on chromosome 16p12.1, encoding Apolipoprotein B receptor (Q0VD83). Macrophage receptor that binds to the apolipoprotein B48 (APOB) of dietary triglyceride (TG)-rich lipoproteins (TRL) or to a like domain of APOB in hypertriglyceridemic very low density lipoprotein (HTG-VLDL).
Apolipoprotein B48 receptor is a macrophage receptor that binds to the apolipoprotein B48 of dietary triglyceride (TG)-rich lipoproteins. This receptor may provide essential lipids, lipid-soluble vitamins and other nutrients to reticuloendothelial cells. If overwhelmed with elevated plasma triglyceride, the apolipoprotein B48 receptor may contribute to foam cell formation, endothelial dysfunction, and atherothrombogenesis.
Source: NCBI Gene 55911 — RefSeq curated summary.
At a glance
- GWAS associations: 24
- Clinical variants (ClinVar): 159 total — 25 pathogenic, 5 likely-pathogenic
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_018690
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24087 |
| Approved symbol | APOBR |
| Name | apolipoprotein B receptor |
| Location | 16p12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | APOB48R, APOB100R |
| Ensembl gene | ENSG00000184730 |
| Ensembl biotype | protein_coding |
| OMIM | 605220 |
| Entrez | 55911 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000564831, ENST00000875807
RefSeq mRNA: 1 — MANE Select: NM_018690
NM_018690
CCDS: CCDS58442
Canonical transcript exons
ENST00000564831 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001432475 | 28498081 | 28498349 |
| ENSE00002613323 | 28495099 | 28497996 |
| ENSE00003849476 | 28494643 | 28494738 |
| ENSE00003849541 | 28498436 | 28498964 |
Expression profiles
Bgee: expression breadth ubiquitous, 160 present calls, max score 96.99.
FANTOM5 (CAGE): breadth broad, TPM avg 18.0187 / max 1259.3027, expressed in 556 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 153373 | 17.8207 | 550 |
| 153376 | 0.1106 | 46 |
| 153372 | 0.0874 | 47 |
Top tissues by expression
276 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 96.99 | gold quality |
| mononuclear cell | CL:0000842 | 96.49 | gold quality |
| granulocyte | CL:0000094 | 96.48 | gold quality |
| leukocyte | CL:0000738 | 96.46 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 95.10 | gold quality |
| blood | UBERON:0000178 | 93.63 | gold quality |
| spleen | UBERON:0002106 | 87.10 | gold quality |
| transverse colon | UBERON:0001157 | 85.15 | gold quality |
| colonic mucosa | UBERON:0000317 | 83.37 | gold quality |
| rectum | UBERON:0001052 | 83.26 | gold quality |
| vermiform appendix | UBERON:0001154 | 82.79 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 82.39 | gold quality |
| colonic epithelium | UBERON:0000397 | 81.02 | gold quality |
| bone marrow cell | CL:0002092 | 80.44 | gold quality |
| bone marrow | UBERON:0002371 | 79.69 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 79.10 | gold quality |
| upper lobe of lung | UBERON:0008948 | 78.22 | gold quality |
| right lung | UBERON:0002167 | 76.96 | gold quality |
| caecum | UBERON:0001153 | 76.51 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 75.73 | gold quality |
| large intestine | UBERON:0000059 | 75.06 | gold quality |
| colon | UBERON:0001155 | 74.98 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 74.15 | gold quality |
| intestine | UBERON:0000160 | 73.98 | gold quality |
| small intestine | UBERON:0002108 | 73.08 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 72.19 | silver quality |
| lymph node | UBERON:0000029 | 69.91 | gold quality |
| lung | UBERON:0002048 | 69.50 | gold quality |
| gall bladder | UBERON:0002110 | 69.47 | gold quality |
| periodontal ligament | UBERON:0008266 | 68.34 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.01 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): PPARA, PPARG
Literature-anchored findings (GeneRIF, showing 6)
- Atherogenic remnant lipoproteins induced macrophage foam cell formation via apoB48R, indicating a potential role of apoB48R in atherosclerosis. (PMID:15591219)
- Nucleotide variations in the apolipoprotein B48 receptor gene is associated with hypercholesterolemia (PMID:15830122)
- investigation of apoB48R gene transcription in circulating monocytes: increase in apoB48R gene transcription following high-fat meal (PMID:21367954)
- These findings suggest that APOB48R represents a molecular target of postprandial lipoproteins via PPAR-dependent pathways in human monocytes and macrophages and advance an important link between postprandial metabolism of dietary fats and atherogenesis. (PMID:22190030)
- The obesity risk alleles of non-synonymous SNPs at SH2B1 and APOB48R have no strong effect on weight loss-related phenotypes in overweight children after a 1-year lifestyle intervention. (PMID:23519644)
- the findings reported here demonstrated that patients with mutations in FASN (c.G7192T, p.A2398S) and APOBR (c.C1883G, p.T628R) may be predisposed to hypothyroidism. These mutations may disrupt the regulation of fatty acid biosynthesis and lipid metabolism. These findings may reveal the high degree of genetic heterogeneity in hypothyroidism phenotypes. (PMID:30272292)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Apobr | ENSMUSG00000042759 |
| rattus_norvegicus | Apobr | ENSRNOG00000017403 |
Protein
Protein identifiers
Apolipoprotein B receptor — Q0VD83 (reviewed: Q0VD83)
Alternative names: Apolipoprotein B-100 receptor, Apolipoprotein B-48 receptor
All UniProt accessions (1): Q0VD83
UniProt curated annotations — full annotation on UniProt →
Function. Macrophage receptor that binds to the apolipoprotein B48 (APOB) of dietary triglyceride (TG)-rich lipoproteins (TRL) or to a like domain of APOB in hypertriglyceridemic very low density lipoprotein (HTG-VLDL). Binds and internalizes TRL when out of the context of the macrophage. May provide essential lipids to reticuloendothelial cells. Could also be involved in foam cell formation with elevated TRL and remnant lipoprotein (RLP). Mediates the rapid high-affinity uptake of chylomicrons (CM), HTG-VLDL, and trypsinized (tryp) VLDL devoid of APOE in vitro in macrophages.
Subunit / interactions. Homodimer.
Subcellular location. Cell membrane.
Tissue specificity. Expressed in peripheral blood leukocytes > bone marrow = spleen > lymph node, and only faintly visible in appendix and thymus. Expressed in the brain, heart, kidney, liver, lung, pancreas, and placenta. Expressed primarily by reticuloendothelial cells: monocytes, macrophages, and endothelial cells. Expressed in atherosclerotic lesion foam cells.
Post-translational modifications. There are 2 forms in macrophages, the membrane-binding proteins 200 kDa (MBP 200) and 235 kDa (MBP 235), that can be reduced into a single active ligand-binding species with intermediate mobility (MBP 200R).
Induction. Suppressed significantly by PPARA and PPARG in THP-1 and blood-borne monocyte-macrophages. Decreased after pitavastatin treatment in peripheral blood macrophages and remnant lipoprotein (RLP)-induced foam cell formation.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q0VD83-4 | 4 | yes |
| Q0VD83-2 | 2 | |
| Q0VD83-3 | 3 |
RefSeq proteins (1): NP_061160* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026158 | ApolipoprotB_rcpt | Family |
UniProt features (35 total): compositionally biased region 18, region of interest 5, modified residue 4, sequence conflict 3, splice variant 2, sequence variant 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q0VD83-F1 | 41.14 | 0.02 |
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): 458, 510, 572, 594
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-8964046 | VLDL clearance |
| R-HSA-174824 | Plasma lipoprotein assembly, remodeling, and clearance |
| R-HSA-382551 | Transport of small molecules |
| R-HSA-8964043 | Plasma lipoprotein clearance |
MSigDB gene sets: 192 (showing top):
GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, RACCACAR_AML_Q6, GOBP_VESICLE_MEDIATED_TRANSPORT, GGGTGGRR_PAX4_03, AAAYRNCTG_UNKNOWN, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GNF2_ICAM3, TGANTCA_AP1_C, GOBP_LIPID_METABOLIC_PROCESS, GOBP_NEUTRAL_LIPID_METABOLIC_PROCESS, PU1_Q6, GNF2_CD97, MILI_PSEUDOPODIA_CHEMOTAXIS_UP, RGAGGAARY_PU1_Q6, GOBP_LIPID_LOCALIZATION
GO Biological Process (7): triglyceride metabolic process (GO:0006641), lipid transport (GO:0006869), cholesterol metabolic process (GO:0008203), foam cell differentiation (GO:0090077), lipid metabolic process (GO:0006629), steroid metabolic process (GO:0008202), vesicle-mediated transport (GO:0016192)
GO Molecular Function (2): lipoprotein particle receptor activity (GO:0030228), very-low-density lipoprotein particle receptor activity (GO:0030229)
GO Cellular Component (6): centrosome (GO:0005813), plasma membrane (GO:0005886), membrane (GO:0016020), very-low-density lipoprotein particle (GO:0034361), low-density lipoprotein particle (GO:0034362), chylomicron (GO:0042627)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Plasma lipoprotein clearance | 1 |
| Transport of small molecules | 1 |
| Plasma lipoprotein assembly, remodeling, and clearance | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transport | 2 |
| plasma lipoprotein particle | 2 |
| acylglycerol metabolic process | 1 |
| lipid localization | 1 |
| sterol metabolic process | 1 |
| secondary alcohol metabolic process | 1 |
| cell differentiation | 1 |
| primary metabolic process | 1 |
| lipid metabolic process | 1 |
| cellular process | 1 |
| cargo receptor activity | 1 |
| lipoprotein particle binding | 1 |
| lipoprotein particle receptor activity | 1 |
| very-low-density lipoprotein particle binding | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
| triglyceride-rich plasma lipoprotein particle | 1 |
Protein interactions and networks
STRING
1246 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| APOBR | APOB | P04114 | 937 |
| APOBR | TUFM | P49411 | 645 |
| APOBR | SH2B1 | Q9NRF2 | 575 |
| APOBR | RABEP2 | Q9H5N1 | 565 |
| APOBR | SGF29 | Q96ES7 | 524 |
| APOBR | SULT1A2 | P50226 | 507 |
| APOBR | ATXN2L | Q8WWM7 | 476 |
| APOBR | EIF3C | Q99613 | 473 |
| APOBR | NUPR1 | O60356 | 470 |
| APOBR | APOA5 | Q6Q788 | 458 |
| APOBR | CLN3 | Q13286 | 454 |
| APOBR | PLBD1 | Q6P4A8 | 423 |
| APOBR | OR10H1 | Q9Y4A9 | 421 |
| APOBR | SBK1 | Q52WX2 | 420 |
| APOBR | NCOA7 | Q8NI08 | 416 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MAP1LC3A | APOBR | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| KRAS | IGKV2D-24 | psi-mi:“MI:0914”(association) | 0.350 |
| APOBR | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (7): APOBR (Proximity Label-MS), APOBR (Affinity Capture-RNA), APOBR (Protein-peptide), APOBR (Co-fractionation), APOBR (Co-fractionation), APOBR (Co-fractionation), APOBR (Co-fractionation)
ESM2 similar proteins: A2TJV2, A5PKC7, A5PL33, A5YM69, A6NDB9, A6QP92, A8MYA2, O75807, O95359, P0DPF6, P21263, P48681, P58871, Q08DY0, Q0VD83, Q0VDD7, Q14676, Q2KI51, Q2TBI7, Q3KNY0, Q3KR64, Q4R736, Q5IS41, Q5JQC4, Q5PSV9, Q5QJ38, Q5SWP3, Q5TM68, Q63003, Q6IN02, Q6NXZ1, Q6NYC8, Q6P5H2, Q6ZRC1, Q767L8, Q7YR40, Q86Y26, Q8BI84, Q8BQ30, Q8N1P7
Diamond homologs: Q0VD83, Q8VBT6
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
159 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 25 |
| Likely pathogenic | 5 |
| Uncertain significance | 90 |
| Likely benign | 24 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1340752 | GRCh37/hg19 16p11.2(chr16:28485883-29589674)x1 | Pathogenic |
| 148886 | GRCh38/hg38 16p12.1-11.2(chr16:28392832-29342070)x1 | Pathogenic |
| 150642 | GRCh38/hg38 16p12.1-11.2(chr16:28392832-29320029)x1 | Pathogenic |
| 152023 | GRCh38/hg38 16p12.1-11.2(chr16:28392832-29170875)x1 | Pathogenic |
| 1703567 | GRCh37/hg19 16p11.2(chr16:28349949-29342589) | Pathogenic |
| 1710520 | GRCh37/hg19 16p11.2(chr16:28483659-29341550)x1 | Pathogenic |
| 1807834 | GRCh37/hg19 16p11.2(chr16:28486929-29351826)x1 | Pathogenic |
| 1808112 | GRCh37/hg19 16p11.2(chr16:28490480-29379768)x1 | Pathogenic |
| 253631 | GRCh37/hg19 16p11.2(chr16:28486693-29043960)x1 | Pathogenic |
| 2573121 | GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1 | Pathogenic |
| 268058 | GRCh37/hg19 16p11.2(chr16:28484556-29043450)x1 | Pathogenic |
| 3063415 | GRCh37/hg19 16p11.2(chr16:28486928-29438326)x1 | Pathogenic |
| 3063422 | GRCh37/hg19 16p11.2(chr16:28371467-29379768)x1 | Pathogenic |
| 395542 | GRCh37/hg19 16p11.2(chr16:28486693-29048572)x1 | Pathogenic |
| 4279102 | GRCh37/hg19 16p12.1-11.2(chr16:27078317-29001333)x2 | Pathogenic |
| 441576 | GRCh37/hg19 16p11.2(chr16:28384463-29343462)x1 | Pathogenic |
| 442530 | GRCh37/hg19 16p11.2(chr16:28466730-29427247)x1 | Pathogenic |
| 443086 | GRCh37/hg19 16p12.2-11.2(chr16:22718350-28858721)x4 | Pathogenic |
| 443382 | GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3 | Pathogenic |
| 545197 | NC_000016.10:g.(?28351819)(29325073_?)del | Pathogenic |
| 564309 | GRCh37/hg19 16p11.2(chr16:28389576-29438326)x1 | Pathogenic |
| 58086 | GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3 | Pathogenic |
| 58099 | GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3 | Pathogenic |
| 685912 | GRCh37/hg19 16p11.2(chr16:28371467-29416001)x3 | Pathogenic |
| 815811 | GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3 | Pathogenic |
| 1330173 | GRCh37/hg19 16p11.2(chr16:28353878-29478115)x3 | Likely pathogenic |
| 146289 | GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3 | Likely pathogenic |
| 146471 | GRCh38/hg38 16p12.1-11.2(chr16:28492482-29170875)x1 | Likely pathogenic |
| 151527 | GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3 | Likely pathogenic |
| 4076058 | GRCh37/hg19 16p12.2-11.2(chr16:23034306-28605212)x1 | Likely pathogenic |
SpliceAI
707 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:28495168:GCGGC:G | donor_gain | 0.9900 |
| 16:28495188:G:GA | donor_gain | 0.9900 |
| 16:28498303:C:T | donor_gain | 0.9900 |
| 16:28498348:GG:G | donor_gain | 0.9900 |
| 16:28498349:GG:G | donor_gain | 0.9900 |
| 16:28494721:GCCT:G | donor_gain | 0.9800 |
| 16:28495187:T:TA | donor_gain | 0.9800 |
| 16:28495209:G:T | donor_gain | 0.9800 |
| 16:28498180:C:A | acceptor_gain | 0.9800 |
| 16:28495177:G:GT | donor_gain | 0.9700 |
| 16:28498345:CACGG:C | donor_loss | 0.9700 |
| 16:28498347:CGGG:C | donor_loss | 0.9700 |
| 16:28498348:GGGT:G | donor_loss | 0.9700 |
| 16:28498349:GGTA:G | donor_loss | 0.9700 |
| 16:28498351:T:C | donor_loss | 0.9700 |
| 16:28495159:G:GT | donor_gain | 0.9600 |
| 16:28494681:G:GT | donor_gain | 0.9500 |
| 16:28494763:A:G | donor_gain | 0.9500 |
| 16:28495178:A:T | donor_gain | 0.9500 |
| 16:28497971:G:GT | donor_gain | 0.9500 |
| 16:28494730:G:T | donor_gain | 0.9400 |
| 16:28495171:GC:G | donor_gain | 0.9400 |
| 16:28495172:C:G | donor_gain | 0.9400 |
| 16:28498329:G:GT | donor_gain | 0.9400 |
| 16:28498330:A:T | donor_gain | 0.9400 |
| 16:28498350:G:GG | donor_gain | 0.9400 |
| 16:28497993:CGAGG:C | donor_loss | 0.9300 |
| 16:28498076:TGCA:T | acceptor_loss | 0.9300 |
| 16:28498077:GCAGG:G | acceptor_loss | 0.9300 |
| 16:28498078:CA:C | acceptor_loss | 0.9300 |
AlphaMissense
7048 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:28498437:T:C | F1076L | 0.976 |
| 16:28498439:T:A | F1076L | 0.976 |
| 16:28498439:T:G | F1076L | 0.976 |
| 16:28495114:T:C | F25L | 0.945 |
| 16:28495116:T:A | F25L | 0.945 |
| 16:28495116:T:G | F25L | 0.945 |
| 16:28495127:T:C | L29P | 0.919 |
| 16:28495118:T:A | V26D | 0.913 |
| 16:28498460:G:A | M1083I | 0.907 |
| 16:28498460:G:C | M1083I | 0.907 |
| 16:28498460:G:T | M1083I | 0.907 |
| 16:28498471:T:C | L1087P | 0.907 |
| 16:28494688:T:C | F3L | 0.906 |
| 16:28494690:C:A | F3L | 0.906 |
| 16:28494690:C:G | F3L | 0.906 |
| 16:28498463:G:A | M1084I | 0.900 |
| 16:28498463:G:C | M1084I | 0.900 |
| 16:28498463:G:T | M1084I | 0.900 |
| 16:28498123:A:C | S1000R | 0.891 |
| 16:28498125:T:A | S1000R | 0.891 |
| 16:28498125:T:G | S1000R | 0.891 |
| 16:28498462:T:C | M1084T | 0.885 |
| 16:28498459:T:C | M1083T | 0.882 |
| 16:28494725:T:C | L15S | 0.870 |
| 16:28498438:T:C | F1076S | 0.870 |
| 16:28498451:C:A | H1080Q | 0.867 |
| 16:28498451:C:G | H1080Q | 0.867 |
| 16:28494721:G:C | A14P | 0.866 |
| 16:28498438:T:G | F1076C | 0.857 |
| 16:28497990:G:C | W983C | 0.856 |
dbSNP variants (sampled 300 via entrez): RS1000239420 (16:28494402 A>C), RS1001659333 (16:28494140 G>C,T), RS1002051515 (16:28498078 C>G,T), RS1002685253 (16:28498703 G>A,C), RS1004575448 (16:28493834 C>G), RS1005414422 (16:28494094 T>C), RS1005445406 (16:28493803 C>T), RS1005959553 (16:28497633 G>A), RS1007959008 (16:28495519 C>A,T), RS1008891711 (16:28494375 A>G), RS1008958075 (16:28494826 C>G,T), RS1008983364 (16:28499419 C>T), RS1009328585 (16:28496149 G>T), RS1009396226 (16:28492829 A>C), RS1010436290 (16:28494734 C>T)
Disease associations
OMIM: gene MIM:605220 | disease phenotypes: MIM:613444, MIM:613604, MIM:614671, MIM:181500
GenCC curated gene-disease
Mondo (4): distal 16p11.2 microdeletion syndrome (MONDO:0013267), chromosome 16p12.2-p11.2 deletion syndrome (MONDO:0013320), chromosome 16p11.2 duplication syndrome (MONDO:0013847), schizophrenia (MONDO:0005090)
Orphanet (4): Distal 16p11.2 microdeletion syndrome (Orphanet:261222), 16p11.2p12.2 microdeletion syndrome (Orphanet:261211), Proximal 16p11.2 microduplication syndrome (Orphanet:370079), NON RARE IN EUROPE: Schizophrenia (Orphanet:3140)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0100753 | Schizophrenia |
GWAS associations
24 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000830_13 | Body mass index | 2.000000e-20 |
| GCST003435_17 | Body fat percentage | 7.000000e-07 |
| GCST003435_30 | Body fat percentage | 7.000000e-09 |
| GCST004131_83 | Inflammatory bowel disease | 2.000000e-12 |
| GCST004132_69 | Crohn’s disease | 3.000000e-10 |
| GCST004599_108 | Mean platelet volume | 3.000000e-37 |
| GCST004603_240 | Platelet count | 4.000000e-33 |
| GCST004607_60 | Plateletcrit | 2.000000e-12 |
| GCST007044_23 | Extremely high intelligence | 2.000000e-08 |
| GCST007293_116 | Body fat distribution (arm fat ratio) | 2.000000e-08 |
| GCST007293_16 | Body fat distribution (arm fat ratio) | 4.000000e-09 |
| GCST007293_43 | Body fat distribution (arm fat ratio) | 2.000000e-12 |
| GCST007294_71 | Body fat distribution (trunk fat ratio) | 2.000000e-12 |
| GCST007294_97 | Body fat distribution (trunk fat ratio) | 1.000000e-11 |
| GCST007295_20 | Body fat distribution (leg fat ratio) | 3.000000e-06 |
| GCST007295_44 | Body fat distribution (leg fat ratio) | 1.000000e-21 |
| GCST007295_79 | Body fat distribution (leg fat ratio) | 2.000000e-24 |
| GCST007732_3 | Allergic disease (asthma, hay fever or eczema) | 3.000000e-06 |
| GCST007732_7 | Allergic disease (asthma, hay fever or eczema) | 4.000000e-06 |
| GCST008363_125 | Offspring birth weight | 5.000000e-08 |
| GCST009267_4 | Dental caries (decayed, missing and filled teeth) | 4.000000e-06 |
| GCST010133_15 | Lamb consumption | 3.000000e-08 |
| GCST010703_152 | Brain morphology (MOSTest) | 3.000000e-09 |
| GCST90002400_172 | Plateletcrit | 6.000000e-41 |
EFO canonical traits (10, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0007800 | body fat percentage |
| EFO:0004309 | platelet count |
| EFO:0007985 | platelet crit |
| EFO:0004337 | intelligence |
| EFO:0004341 | body fat distribution |
| EFO:0004344 | birth weight |
| EFO:0005939 | parental genotype effect measurement |
| EFO:0008111 | diet measurement |
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sotorasib | affects cotreatment, increases expression | 1 |
| TL8-506 | affects cotreatment, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| licochalcone B | decreases expression | 1 |
| trametinib | increases expression, affects cotreatment | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| NVP-BKM120 | affects cotreatment, increases expression | 1 |
| Bortezomib | decreases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Estradiol | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Poly I-C | affects cotreatment, increases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Tretinoin | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Okadaic Acid | decreases 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): chromosome 16p11.2 duplication syndrome, chromosome 16p12.2-p11.2 deletion syndrome, distal 16p11.2 microdeletion syndrome