SCARA3
gene geneOn this page
Also known as CSR1CSRMSLR1APC7MSRL1
Summary
SCARA3 (scavenger receptor class A member 3, HGNC:19000) is a protein-coding gene on chromosome 8p21.1, encoding Scavenger receptor class A member 3 (Q6AZY7). Seems to protect cells by scavenging oxidative molecules or harmful products of oxidation.
This gene encodes a macrophage scavenger receptor-like protein. This protein has been shown to deplete reactive oxygen species, and thus play an important role in protecting cells from oxidative stress. The expression of this gene is induced by oxidative stress. Alternatively spliced transcript variants encoding distinct isoforms have been described.
Source: NCBI Gene 51435 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 109 total
- MANE Select transcript:
NM_016240
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19000 |
| Approved symbol | SCARA3 |
| Name | scavenger receptor class A member 3 |
| Location | 8p21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CSR1, CSR, MSLR1, APC7, MSRL1 |
| Ensembl gene | ENSG00000168077 |
| Ensembl biotype | protein_coding |
| OMIM | 602728 |
| Entrez | 51435 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 12 protein_coding
ENST00000301904, ENST00000337221, ENST00000890601, ENST00000890602, ENST00000890603, ENST00000890604, ENST00000890605, ENST00000890606, ENST00000890607, ENST00000890608, ENST00000932941, ENST00000970378
RefSeq mRNA: 2 — MANE Select: NM_016240
NM_016240, NM_182826
CCDS: CCDS34870, CCDS34871
Canonical transcript exons
ENST00000301904 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001120136 | 27649702 | 27649800 |
| ENSE00001120138 | 27651508 | 27651627 |
| ENSE00001120139 | 27656782 | 27656880 |
| ENSE00001120140 | 27658496 | 27659539 |
| ENSE00001120141 | 27670900 | 27673018 |
| ENSE00001291987 | 27633902 | 27634207 |
Expression profiles
Bgee: expression breadth ubiquitous, 242 present calls, max score 97.74.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.6130 / max 166.9200, expressed in 1276 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 88167 | 7.4874 | 1255 |
| 88166 | 0.4003 | 236 |
| 88168 | 0.3572 | 178 |
| 88169 | 0.2095 | 98 |
| 88165 | 0.1535 | 78 |
| 205138 | 0.0052 | 1 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 97.74 | gold quality |
| right uterine tube | UBERON:0001302 | 96.55 | gold quality |
| right coronary artery | UBERON:0001625 | 96.04 | gold quality |
| body of uterus | UBERON:0009853 | 95.64 | gold quality |
| thoracic aorta | UBERON:0001515 | 95.61 | gold quality |
| ascending aorta | UBERON:0001496 | 95.58 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 95.54 | gold quality |
| left uterine tube | UBERON:0001303 | 94.87 | gold quality |
| tendon | UBERON:0000043 | 94.41 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 94.03 | gold quality |
| aorta | UBERON:0000947 | 93.53 | gold quality |
| endocervix | UBERON:0000458 | 93.33 | gold quality |
| putamen | UBERON:0001874 | 92.32 | gold quality |
| popliteal artery | UBERON:0002250 | 92.04 | gold quality |
| tibial artery | UBERON:0007610 | 92.02 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 92.00 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 91.87 | gold quality |
| gall bladder | UBERON:0002110 | 91.67 | gold quality |
| ventricular zone | UBERON:0003053 | 91.63 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 91.63 | gold quality |
| caudate nucleus | UBERON:0001873 | 91.56 | gold quality |
| myometrium | UBERON:0001296 | 91.51 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 91.38 | gold quality |
| mucosa of stomach | UBERON:0001199 | 91.23 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 91.18 | gold quality |
| lower esophagus | UBERON:0013473 | 91.16 | gold quality |
| seminal vesicle | UBERON:0000998 | 91.11 | gold quality |
| sural nerve | UBERON:0015488 | 91.09 | gold quality |
| synovial joint | UBERON:0002217 | 90.93 | gold quality |
| thyroid gland | UBERON:0002046 | 90.79 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-114 | yes | 25.92 |
| E-ANND-3 | yes | 6.52 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
57 targeting SCARA3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-6499-3P | 99.90 | 66.38 | 1212 |
| HSA-MIR-202-5P | 99.78 | 67.65 | 991 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-4530 | 99.69 | 66.47 | 1509 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-646 | 99.68 | 67.84 | 1645 |
| HSA-MIR-6762-3P | 99.66 | 66.94 | 1188 |
| HSA-MIR-4666B | 99.64 | 68.69 | 1282 |
| HSA-MIR-567 | 99.63 | 68.57 | 1219 |
| HSA-MIR-516B-5P | 99.56 | 66.33 | 1495 |
| HSA-MIR-3915 | 99.45 | 68.49 | 1905 |
| HSA-MIR-297 | 99.40 | 69.58 | 1418 |
| HSA-MIR-4316 | 99.37 | 65.75 | 1360 |
| HSA-MIR-542-3P | 99.34 | 67.58 | 1270 |
| HSA-MIR-183-5P | 99.31 | 72.27 | 1164 |
| HSA-MIR-5589-3P | 99.29 | 68.30 | 1443 |
| HSA-MIR-223-5P | 99.24 | 68.82 | 1206 |
| HSA-MIR-6510-5P | 99.14 | 66.59 | 1081 |
| HSA-MIR-6809-5P | 99.13 | 68.45 | 1223 |
| HSA-MIR-922 | 99.02 | 67.23 | 1838 |
| HSA-MIR-4270 | 99.02 | 66.26 | 1987 |
| HSA-MIR-143-5P | 98.98 | 68.87 | 946 |
| HSA-MIR-3190-5P | 98.87 | 64.89 | 1345 |
| HSA-MIR-7705 | 98.69 | 67.47 | 543 |
Literature-anchored findings (GeneRIF, showing 15)
- Down-regulation of CSR1 protein expression by promoter methylation is associated with tumor growth and metastasis of prostate cancer (PMID:16436673)
- CSR1 appears to induce cell death through a novel mechanism by hijacking a critical RNA processing enzyme CPSF3. (PMID:18806823)
- The consistently high SCARA3 levels in both primary carcinomas and metastatic cells in effusions, and its up-regulation along disease progression from diagnosis to recurrence, suggest a role in ovarian cancer biology. (PMID:21855113)
- Results demonstrate the involvement of SCARA3 and SCARA5 in the uptake of PF14-oligonucleotide nanocomplexes. (PMID:22138034)
- The binding of CSR1 with XIAP enhanced caspase-9 and caspase-3 protease activities. (PMID:22683311)
- Data indicate that the clinical samples showed an inverse correlation between SCARA3 gene expression, myeloma progression, and favorable clinical prognosis. (PMID:23537707)
- Findings regarding the interaction of NADPH-P450 reductase (NPR) with cellular stress response (CSR) indicated function of NPR in hypoxic response. (PMID:24491563)
- Suppression of CSR1 expression is a novel mechanism critical for the oncogenic activity of miR-650. (PMID:25956032)
- The interaction between CSR1 and SF3A3 led to migration of SF3A3 from nucleus to cytoplasm. The cytoplasmic redistribution of SF3A3 significantly reduced the splicing efficiency of epidermal growth factor receptor and platelet-derived growth factor receptor. (PMID:27148859)
- demonstrated that CSR1 inhibited hepatocellular carcinoma cell proliferation, migration and invasion through inactivation of hematopoietic PBX interacting protein (HPIP) and its downstream PI3K/AKT signaling pathway. (PMID:28975986)
- CSR1 is SUMOylated at K582 and rapid ubiquitinated and degradated in prostate cancer cells. (PMID:29705808)
- Study found that SCARA3 is associated with severity of hand, foot, and mouth disease, and it may be a potential prognostic marker to predict the HFMD progression in EV71 infected patients. (PMID:31577778)
- Identification of SCARA3 with potential roles in metabolic disorders. (PMID:33318306)
- DICER-AS1 functions as competing endogenous RNA that targets CSR1 by sponging microRNA-650 and suppresses gastric cancer progression. (PMID:34586953)
- SCARA3 inhibits cell proliferation and EMT through AKT signaling pathway in lung cancer. (PMID:35578316)
Cross-species orthologs
15 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | scara3 | ENSDARG00000008060 |
| mus_musculus | Scara3 | ENSMUSG00000034463 |
| rattus_norvegicus | Scara3 | ENSRNOG00000016177 |
| caenorhabditis_elegans | WBGENE00000599 | |
| caenorhabditis_elegans | col-35 | WBGENE00000612 |
| caenorhabditis_elegans | col-47 | WBGENE00000624 |
| caenorhabditis_elegans | col-50 | WBGENE00000627 |
| caenorhabditis_elegans | WBGENE00000661 | |
| caenorhabditis_elegans | WBGENE00000700 | |
| caenorhabditis_elegans | WBGENE00000701 | |
| caenorhabditis_elegans | WBGENE00000717 | |
| caenorhabditis_elegans | WBGENE00000718 | |
| caenorhabditis_elegans | WBGENE00000721 | |
| caenorhabditis_elegans | WBGENE00000757 | |
| caenorhabditis_elegans | WBGENE00000760 |
Paralogs (2): METTL24 (ENSG00000053328), CTHRC1 (ENSG00000164932)
Protein
Protein identifiers
Scavenger receptor class A member 3 — Q6AZY7 (reviewed: Q6AZY7)
Alternative names: Cellular stress response gene protein
All UniProt accessions (1): Q6AZY7
UniProt curated annotations — full annotation on UniProt →
Function. Seems to protect cells by scavenging oxidative molecules or harmful products of oxidation.
Subcellular location. Endoplasmic reticulum membrane. Golgi apparatus membrane.
Tissue specificity. Expressed ubiquitously.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6AZY7-1 | 1, CSR1 | yes |
| Q6AZY7-2 | 2, CSR2 |
RefSeq proteins (2): NP_057324, NP_878185 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008160 | Collagen | Repeat |
| IPR052376 | Oxidative_Scav/Glycosyltrans | Family |
Pfam: PF01391
UniProt features (30 total): glycosylation site 10, sequence variant 6, compositionally biased region 4, topological domain 2, splice variant 2, domain 2, chain 1, transmembrane region 1, sequence conflict 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6AZY7-F1 | 70.76 | 0.36 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (10): 115, 182, 224, 257, 313, 337, 365, 400, 430, 451
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 127 (showing top):
MODULE_255, GOCC_COLLAGEN_TRIMER, MODULE_317, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_UV_PROTECTION, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, YORDY_RECIPROCAL_REGULATION_BY_ETS1_AND_SP100_UP, MARTORIATI_MDM4_TARGETS_NEUROEPITHELIUM_DN, chr8p21, MARTINEZ_RB1_TARGETS_DN, RIGGI_EWING_SARCOMA_PROGENITOR_DN, GOBP_RESPONSE_TO_UV, GOBP_RESPONSE_TO_RADIATION, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_RESPONSE_TO_LIGHT_STIMULUS
GO Biological Process (3): response to oxidative stress (GO:0006979), UV protection (GO:0009650), vesicle-mediated transport (GO:0016192)
GO Molecular Function (2): scavenger receptor activity (GO:0005044), protein binding (GO:0005515)
GO Cellular Component (6): Golgi membrane (GO:0000139), collagen trimer (GO:0005581), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 2 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| response to stress | 1 |
| response to UV | 1 |
| transport | 1 |
| cellular process | 1 |
| cargo receptor activity | 1 |
| binding | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| protein-containing complex | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1496 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SCARA3 | CPSF3 | Q9UKF6 | 966 |
| SCARA3 | CPSF2 | Q9P2I0 | 751 |
| SCARA3 | DCLRE1A | Q6PJP8 | 549 |
| SCARA3 | FBF1 | Q8TES7 | 546 |
| SCARA3 | BLOC1S1 | P78537 | 504 |
| SCARA3 | PIWIL1 | Q96J94 | 480 |
| SCARA3 | ALG3 | Q92685 | 480 |
| SCARA3 | PIWIL4 | Q7Z3Z4 | 479 |
| SCARA3 | IER3 | P46695 | 464 |
| SCARA3 | HGSNAT | Q68CP4 | 452 |
| SCARA3 | FREM1 | Q5H8C1 | 445 |
| SCARA3 | PDCD11 | Q14690 | 439 |
| SCARA3 | SRC | P12931 | 436 |
| SCARA3 | IRS1 | P35568 | 434 |
| SCARA3 | BPIFB2 | Q8N4F0 | 429 |
IntAct
47 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MMP9 | TIMP1 | psi-mi:“MI:0914”(association) | 0.640 |
| B3GAT3 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.640 |
| COLEC12 | SCARA3 | psi-mi:“MI:0915”(physical association) | 0.620 |
| SCARA3 | SYNGR2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SYNGR2 | SCARA3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FBXO2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.530 |
| LGALS3 | PODXL | psi-mi:“MI:0914”(association) | 0.530 |
| PLOD3 | PLOD2 | psi-mi:“MI:0914”(association) | 0.530 |
| ABHD14A | TMEM259 | psi-mi:“MI:0914”(association) | 0.530 |
| LAIR2 | LAMA5 | psi-mi:“MI:0914”(association) | 0.530 |
| LGALS1 | PODXL | psi-mi:“MI:0914”(association) | 0.530 |
| SDC1 | ILVBL | psi-mi:“MI:0915”(physical association) | 0.400 |
| CNOT7 | SCARA3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SCARA3 | DEGS1 | psi-mi:“MI:0914”(association) | 0.350 |
| LAIR2 | PLOD3 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM106A | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| BRICD5 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| IL5RA | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM87A | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| NCR3 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| DNAJB9 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| SCN3B | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| MFAP4 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRG2 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| C1QTNF9B | RTCA | psi-mi:“MI:0914”(association) | 0.350 |
| PLOD1 | PLOD2 | psi-mi:“MI:0914”(association) | 0.350 |
| C1QTNF1 | PLOD2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (152): SCARA3 (Two-hybrid), SCARA3 (Affinity Capture-RNA), SCARA3 (Affinity Capture-RNA), SCARA3 (Affinity Capture-RNA), SCARA3 (Affinity Capture-MS), COLEC12 (Affinity Capture-MS), XPO7 (Affinity Capture-MS), COCH (Affinity Capture-MS), HLA-A (Affinity Capture-MS), PXDN (Affinity Capture-MS), ABHD14A (Affinity Capture-MS), ATR (Affinity Capture-MS), HEATR3 (Affinity Capture-MS), SENP1 (Affinity Capture-MS), IQCB1 (Affinity Capture-MS)
ESM2 similar proteins: A2VE00, A2VE53, A2XW69, A5PMY6, A6QP79, B2RPV6, F1QC17, F7DP49, O75071, Q07065, Q0II90, Q13201, Q2LK54, Q32L59, Q3UIJ9, Q4V7C8, Q4V885, Q53EZ4, Q5BIX7, Q5EAJ6, Q5EB94, Q5KU26, Q5R6R3, Q5R923, Q5RI56, Q5ZM60, Q61595, Q640L3, Q6AZY7, Q6NRC9, Q6P6L0, Q70UQ0, Q7XU27, Q7Z7B0, Q84VY2, Q8BGQ6, Q8BIS8, Q8BMK4, Q8BT07, Q8BVC4
Diamond homologs: Q6AZY7, Q8C850
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 59 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 |
|---|---|---|---|
| Post-translational protein phosphorylation | 5 | 12.8× | 1e-03 |
| Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) | 5 | 11.1× | 2e-03 |
| Extracellular matrix organization | 6 | 9.7× | 1e-03 |
| Neutrophil degranulation | 8 | 4.7× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
109 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 91 |
| Likely benign | 11 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
859 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:27649700:A:AG | acceptor_gain | 1.0000 |
| 8:27649701:G:GG | acceptor_gain | 1.0000 |
| 8:27649701:GT:G | acceptor_gain | 1.0000 |
| 8:27649796:GAAGG:G | donor_gain | 1.0000 |
| 8:27649799:GG:G | donor_gain | 1.0000 |
| 8:27649800:GG:G | donor_gain | 1.0000 |
| 8:27651503:CACA:C | acceptor_loss | 1.0000 |
| 8:27651505:CA:C | acceptor_loss | 1.0000 |
| 8:27651506:A:AG | acceptor_gain | 1.0000 |
| 8:27651506:AGGCC:A | acceptor_gain | 1.0000 |
| 8:27651507:G:GG | acceptor_gain | 1.0000 |
| 8:27651507:GGCCG:G | acceptor_gain | 1.0000 |
| 8:27651626:GG:G | donor_gain | 1.0000 |
| 8:27651626:GGGT:G | donor_loss | 1.0000 |
| 8:27651627:GG:G | donor_gain | 1.0000 |
| 8:27651627:GGTG:G | donor_loss | 1.0000 |
| 8:27651628:G:A | donor_loss | 1.0000 |
| 8:27651629:T:A | donor_loss | 1.0000 |
| 8:27651630:G:GT | donor_loss | 1.0000 |
| 8:27656780:A:AG | acceptor_gain | 1.0000 |
| 8:27656781:G:GG | acceptor_gain | 1.0000 |
| 8:27659536:CGAG:C | donor_loss | 1.0000 |
| 8:27659537:GAGG:G | donor_loss | 1.0000 |
| 8:27659538:AGG:A | donor_loss | 1.0000 |
| 8:27659540:GT:G | donor_loss | 1.0000 |
| 8:27634207:GGTAA:G | donor_loss | 0.9900 |
| 8:27634208:GTAA:G | donor_loss | 0.9900 |
| 8:27649699:TA:T | acceptor_loss | 0.9900 |
| 8:27649699:TAGTG:T | acceptor_gain | 0.9900 |
| 8:27649700:AGT:A | acceptor_gain | 0.9900 |
AlphaMissense
3921 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:27659266:G:C | A366P | 0.992 |
| 8:27659294:T:C | L375P | 0.982 |
| 8:27659323:T:C | C385R | 0.981 |
| 8:27659325:C:G | C385W | 0.981 |
| 8:27659303:T:C | L378P | 0.980 |
| 8:27659102:T:C | L311P | 0.978 |
| 8:27659366:T:C | L399P | 0.977 |
| 8:27659324:G:A | C385Y | 0.975 |
| 8:27659183:G:C | R338P | 0.974 |
| 8:27659069:T:C | L300P | 0.973 |
| 8:27659315:G:C | R382P | 0.973 |
| 8:27659462:T:C | L431P | 0.968 |
| 8:27659216:G:C | R349P | 0.965 |
| 8:27671161:G:A | G544E | 0.964 |
| 8:27659279:A:C | H370P | 0.962 |
| 8:27671097:G:C | G523R | 0.960 |
| 8:27656784:T:C | F77L | 0.957 |
| 8:27656786:C:A | F77L | 0.957 |
| 8:27656786:C:G | F77L | 0.957 |
| 8:27659282:T:A | V371E | 0.955 |
| 8:27659323:T:A | C385S | 0.955 |
| 8:27659324:G:C | C385S | 0.955 |
| 8:27671116:G:A | G529E | 0.955 |
| 8:27658913:T:C | L248P | 0.954 |
| 8:27659300:A:G | Y377C | 0.954 |
| 8:27659261:T:G | I364S | 0.953 |
| 8:27659270:C:T | T367I | 0.952 |
| 8:27671106:G:C | G526R | 0.952 |
| 8:27659292:G:A | M374I | 0.950 |
| 8:27659292:G:C | M374I | 0.950 |
dbSNP variants (sampled 300 via entrez): RS1000009761 (8:27729011 G>A), RS1000013473 (8:27644787 G>A,T), RS1000038334 (8:27690858 T>C), RS1000080967 (8:27650238 G>A), RS1000111479 (8:27719536 T>C,G), RS1000166640 (8:27665103 G>A), RS1000179054 (8:27680262 G>A,C,T), RS1000232848 (8:27679913 T>C,G), RS1000257045 (8:27656096 C>T), RS1000309487 (8:27656343 G>A), RS1000320917 (8:27724650 T>C), RS1000326158 (8:27702244 G>A), RS1000366011 (8:27684991 G>T), RS1000440647 (8:27702458 A>C), RS1000455053 (8:27668402 C>T)
Disease associations
OMIM: gene MIM:602728 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004521_193 | Autism spectrum disorder or schizophrenia | 3.000000e-09 |
| GCST010002_272 | Refractive error | 3.000000e-16 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
61 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression, increases methylation | 7 |
| Particulate Matter | increases response to substance, affects cotreatment, decreases expression, increases abundance, affects expression (+2 more) | 4 |
| bisphenol A | affects expression, decreases expression, affects cotreatment | 3 |
| sodium arsenite | affects expression, decreases expression, increases expression | 3 |
| Benzo(a)pyrene | increases expression, affects methylation, decreases expression | 3 |
| methylmercuric chloride | decreases expression, increases expression | 2 |
| cobaltous chloride | decreases expression | 2 |
| (+)-JQ1 compound | decreases expression, increases expression | 2 |
| Air Pollutants | affects expression, affects methylation, decreases expression, increases abundance | 2 |
| Dexamethasone | decreases expression, affects cotreatment | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| mono-(2-ethylhexyl)phthalate | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| zinc chloride | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| cerous chloride | decreases expression | 1 |
| lanthanum chloride | increases expression | 1 |
| hydroquinone | decreases expression | 1 |
| isobutyl alcohol | affects cotreatment, increases abundance, increases expression | 1 |
| diallyl trisulfide | decreases expression | 1 |
| avobenzone | increases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | decreases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.