CEP162
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Also known as QN1
Summary
CEP162 (centrosomal protein 162, HGNC:21107) is a protein-coding gene on chromosome 6q14.2-q14.3, encoding Centrosomal protein of 162 kDa (Q5TB80). Required to promote assembly of the transition zone in primary cilia.
Involved in cilium assembly. Located in several cellular components, including Golgi apparatus; microtubule cytoskeleton; and nucleoplasm.
Source: NCBI Gene 22832 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 247 total — 1 pathogenic
- MANE Select transcript:
NM_014895
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21107 |
| Approved symbol | CEP162 |
| Name | centrosomal protein 162 |
| Location | 6q14.2-q14.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | QN1 |
| Ensembl gene | ENSG00000135315 |
| Ensembl biotype | protein_coding |
| OMIM | 610201 |
| Entrez | 22832 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 4 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000257766, ENST00000403245, ENST00000435955, ENST00000461137, ENST00000487999, ENST00000497936, ENST00000617909, ENST00000962927
RefSeq mRNA: 2 — MANE Select: NM_014895
NM_001286206, NM_014895
CCDS: CCDS34494, CCDS69149
Canonical transcript exons
ENST00000403245 — 27 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000798103 | 84175214 | 84175347 |
| ENSE00003461574 | 84215282 | 84215465 |
| ENSE00003462315 | 84169328 | 84169433 |
| ENSE00003476917 | 84200789 | 84200905 |
| ENSE00003477620 | 84226337 | 84226452 |
| ENSE00003480833 | 84201737 | 84201767 |
| ENSE00003500734 | 84212957 | 84213024 |
| ENSE00003501137 | 84194884 | 84195075 |
| ENSE00003508334 | 84174048 | 84174188 |
| ENSE00003526633 | 84185187 | 84185448 |
| ENSE00003536819 | 84171606 | 84171718 |
| ENSE00003554053 | 84149562 | 84149703 |
| ENSE00003555492 | 84174727 | 84174954 |
| ENSE00003559870 | 84146687 | 84146785 |
| ENSE00003574484 | 84152545 | 84153179 |
| ENSE00003576122 | 84193609 | 84193690 |
| ENSE00003580638 | 84221057 | 84221171 |
| ENSE00003605985 | 84155298 | 84155510 |
| ENSE00003621680 | 84203981 | 84204096 |
| ENSE00003624185 | 84126378 | 84126512 |
| ENSE00003627477 | 84186332 | 84186623 |
| ENSE00003631444 | 84215776 | 84215922 |
| ENSE00003653590 | 84163144 | 84163270 |
| ENSE00003677495 | 84161746 | 84161909 |
| ENSE00003682304 | 84160812 | 84160916 |
| ENSE00003850060 | 84124250 | 84125276 |
| ENSE00003850282 | 84227580 | 84227643 |
Expression profiles
Bgee: expression breadth ubiquitous, 245 present calls, max score 91.37.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.8455 / max 223.8749, expressed in 1272 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 74580 | 3.8455 | 1272 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 91.37 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 90.21 | gold quality |
| sperm | CL:0000019 | 90.08 | gold quality |
| left testis | UBERON:0004533 | 87.68 | gold quality |
| male germ cell | CL:0000015 | 87.42 | gold quality |
| right testis | UBERON:0004534 | 87.41 | gold quality |
| tendon | UBERON:0000043 | 87.32 | gold quality |
| testis | UBERON:0000473 | 86.51 | gold quality |
| right uterine tube | UBERON:0001302 | 85.07 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 84.33 | gold quality |
| buccal mucosa cell | CL:0002336 | 83.93 | gold quality |
| ventricular zone | UBERON:0003053 | 82.20 | gold quality |
| bronchial epithelial cell | CL:0002328 | 81.42 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 81.24 | gold quality |
| ganglionic eminence | UBERON:0004023 | 80.66 | gold quality |
| monocyte | CL:0000576 | 79.62 | gold quality |
| cortical plate | UBERON:0005343 | 79.44 | gold quality |
| mononuclear cell | CL:0000842 | 79.34 | gold quality |
| leukocyte | CL:0000738 | 79.18 | gold quality |
| tibial nerve | UBERON:0001323 | 79.10 | gold quality |
| sural nerve | UBERON:0015488 | 78.67 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 78.66 | gold quality |
| body of uterus | UBERON:0009853 | 78.63 | gold quality |
| left coronary artery | UBERON:0001626 | 78.42 | gold quality |
| thyroid gland | UBERON:0002046 | 78.40 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 78.36 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 78.27 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 78.15 | gold quality |
| metanephros cortex | UBERON:0010533 | 78.14 | gold quality |
| right coronary artery | UBERON:0001625 | 78.11 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.15 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
57 targeting CEP162, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-448 | 99.79 | 72.37 | 2103 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-567 | 99.63 | 68.57 | 1219 |
| HSA-MIR-1260A | 99.61 | 66.67 | 1098 |
| HSA-MIR-1260B | 99.61 | 66.67 | 1098 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-891B | 99.59 | 69.81 | 1083 |
| HSA-MIR-1252-3P | 99.55 | 67.71 | 2862 |
| HSA-MIR-203A-3P | 99.49 | 70.56 | 2806 |
| HSA-MIR-7849-3P | 99.47 | 68.17 | 1224 |
| HSA-MIR-147B-5P | 99.45 | 70.62 | 2432 |
| HSA-MIR-569 | 99.42 | 66.32 | 1009 |
| HSA-MIR-4666A-5P | 99.41 | 69.72 | 1887 |
| HSA-MIR-580-5P | 99.28 | 70.94 | 1776 |
| HSA-MIR-4426 | 99.17 | 66.74 | 1949 |
| HSA-MIR-138-2-3P | 98.91 | 68.33 | 1643 |
Literature-anchored findings (GeneRIF, showing 4)
- QN1/KIAA1009 is a new microtubule-associated ATPase involved in cell division (PMID:16302001)
- CEP162 is an axoneme-recognition protein pre-tethered at centriole distal ends before ciliogenesis to promote and restrict transition zone formation specifically at the cilia base. (PMID:23644468)
- CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis. (PMID:36862503)
- The association of five polymorphisms with diabetic retinopathy in a Chinese population. (PMID:37066695)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cep162 | ENSDARG00000087369 |
| mus_musculus | Cep162 | ENSMUSG00000056919 |
| rattus_norvegicus | Cep162 | ENSRNOG00000010608 |
Protein
Protein identifiers
Centrosomal protein of 162 kDa — Q5TB80 (reviewed: Q5TB80)
Alternative names: Protein QN1 homolog
All UniProt accessions (2): F6V2J0, Q5TB80
UniProt curated annotations — full annotation on UniProt →
Function. Required to promote assembly of the transition zone in primary cilia. Acts by specifically recognizing and binding the axonemal microtubule. Localizes to the distal ends of centrioles before ciliogenesis and directly binds to axonemal microtubule, thereby promoting and restricting transition zone formation specifically at the cilia base. Required to mediate CEP290 association with microtubules.
Subunit / interactions. Interacts with CEP290. Interacts with CPNE4. Interacts with alpha-tubulin.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole. Spindle. Nucleus.
Miscellaneous. Promotes ectopic assembly of transition zone components at cilia tips when targeted outside distal ends of centrioles, generating extra-long cilia with strikingly swollen tips.
Similarity. Belongs to the CEP162 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5TB80-1 | 1 | yes |
| Q5TB80-2 | 2 |
RefSeq proteins (2): NP_001273135, NP_055710* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR038774 | CEP162-like | Family |
UniProt features (20 total): modified residue 4, sequence variant 4, coiled-coil region 4, region of interest 3, compositionally biased region 2, chain 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5TB80-F1 | 63.93 | 0.21 |
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): 157, 160, 474, 475
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-5620912 | Anchoring of the basal body to the plasma membrane |
| R-HSA-1852241 | Organelle biogenesis and maintenance |
| R-HSA-5617833 | Cilium Assembly |
MSigDB gene sets: 140 (showing top):
MORF_MSH3, MODULE_255, MORF_BRCA1, MODULE_317, MORF_ESR1, MORF_RAD51L3, GOCC_MICROTUBULE_ORGANIZING_CENTER, BROWNE_HCMV_INFECTION_48HR_DN, MORF_CTSB, GOBP_CILIUM_ORGANIZATION, MORF_IL4, GOCC_CENTROSOME, MORF_PRKCA, GOBP_ORGANELLE_ASSEMBLY, MORF_THPO
GO Biological Process (2): cilium assembly (GO:0060271), cell projection organization (GO:0030030)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (16): nucleoplasm (GO:0005654), Golgi apparatus (GO:0005794), centrosome (GO:0005813), centriole (GO:0005814), spindle (GO:0005819), cytosol (GO:0005829), axonemal microtubule (GO:0005879), centriolar satellite (GO:0034451), ciliary basal body (GO:0036064), sperm midpiece (GO:0097225), sperm principal piece (GO:0097228), sperm head-tail coupling apparatus (GO:0120212), nucleus (GO:0005634), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), microtubule (GO:0005874)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Assembly of the 9+0 primary cilium | 1 |
| Organelle biogenesis and maintenance | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 7 |
| microtubule organizing center | 3 |
| intracellular membraneless organelle | 3 |
| cytoplasm | 2 |
| intracellular membrane-bounded organelle | 2 |
| microtubule cytoskeleton | 2 |
| sperm flagellum | 2 |
| axoneme assembly | 1 |
| intraciliary transport involved in cilium assembly | 1 |
| cilium organization | 1 |
| protein localization to cilium | 1 |
| organelle assembly | 1 |
| trans-Golgi to periciliary membrane compartment transport | 1 |
| plasma membrane bounded cell projection assembly | 1 |
| ciliary transition zone assembly | 1 |
| cellular component organization | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| endomembrane system | 1 |
| centriole | 1 |
| cytoplasmic microtubule | 1 |
| axoneme | 1 |
| centrosome | 1 |
| cilium | 1 |
| intracellular anatomical structure | 1 |
| polymeric cytoskeletal fiber | 1 |
Protein interactions and networks
STRING
1018 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CEP162 | TUBG1 | P23258 | 762 |
| CEP162 | CEP290 | O15078 | 743 |
| CEP162 | TCTN1 | Q2MV58 | 590 |
| CEP162 | CEP120 | Q8N960 | 574 |
| CEP162 | KIAA0753 | Q2KHM9 | 557 |
| CEP162 | CEP164 | Q9UPV0 | 550 |
| CEP162 | YEATS4 | O95619 | 543 |
| CEP162 | CEP295 | Q9C0D2 | 528 |
| CEP162 | CCP110 | O43303 | 528 |
| CEP162 | IQCB1 | Q15051 | 523 |
| CEP162 | POC1B | Q8TC44 | 519 |
| CEP162 | TMEM67 | Q5HYA8 | 514 |
| CEP162 | CEP19 | Q96LK0 | 508 |
| CEP162 | CEP89 | Q96ST8 | 500 |
| CEP162 | SAXO1 | Q8IYX7 | 494 |
IntAct
81 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED4 | MED19 | psi-mi:“MI:2364”(proximity) | 0.900 |
| CEP290 | CCP110 | psi-mi:“MI:2364”(proximity) | 0.890 |
| YWHAG | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.640 |
| YWHAB | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.610 |
| CEP162 | CEP290 | psi-mi:“MI:0915”(physical association) | 0.600 |
| YWHAH | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.570 |
| CEP162 | CEP135 | psi-mi:“MI:0915”(physical association) | 0.540 |
| CEP120 | CEP162 | psi-mi:“MI:0915”(physical association) | 0.540 |
| CEP104 | CCDC66 | psi-mi:“MI:2364”(proximity) | 0.540 |
| CAPN6 | UBA6 | psi-mi:“MI:0914”(association) | 0.530 |
| PCM1 | CEP162 | psi-mi:“MI:0914”(association) | 0.420 |
| CEP162 | OFD1 | psi-mi:“MI:0914”(association) | 0.420 |
| CEP128 | PCM1 | psi-mi:“MI:0914”(association) | 0.420 |
| CEP162 | CCP110 | psi-mi:“MI:2364”(proximity) | 0.420 |
| CEP162 | CCDC47 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ATXN1 | CEP162 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CEP162 | KCTD8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CEP162 | KDM1A | psi-mi:“MI:0915”(physical association) | 0.370 |
| PRMT8 | CEP162 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PRMT1 | CEP162 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ANLN | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| MYO18A | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| MYO1C | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| FLNA | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| Myh10 | LMO7 | psi-mi:“MI:0914”(association) | 0.350 |
| Actb | psi-mi:“MI:0914”(association) | 0.350 | |
| Lima1 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| Tmod3 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| Tpm1 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (240): CEP162 (Proximity Label-MS), CEP162 (Affinity Capture-Western), CEP120 (Affinity Capture-Western), CEP170 (Affinity Capture-Western), CEP97 (Affinity Capture-Western), KIAA0753 (Affinity Capture-Western), OFD1 (Affinity Capture-Western), PCM1 (Affinity Capture-Western), SPICE1 (Affinity Capture-Western), CEP162 (Affinity Capture-Western), CEP162 (Affinity Capture-Western), CEP162 (Affinity Capture-Western), CEP162 (Affinity Capture-MS), CEP131 (Affinity Capture-MS), CCDC138 (Affinity Capture-MS)
ESM2 similar proteins: A0A1L8GUX5, A0A1L8GXY6, A0A1W2P884, A2AIW0, A2AM05, A2CE83, A6H5Y1, E7F5E1, F7DP49, H2MTR9, O08970, O60296, P27628, P28290, P57077, Q08AD1, Q0VF96, Q28GJ0, Q2KJD6, Q2MJV9, Q3KQW7, Q3V036, Q4KLH6, Q4KM62, Q4R815, Q5R9L2, Q5SZL2, Q5TB80, Q5U2Y9, Q5U4W1, Q66H35, Q6AW69, Q6IRN6, Q6PD31, Q6ZQ06, Q70YC5, Q7ZX27, Q80ST9, Q86VQ0, Q8C115
Diamond homologs: E7F5E1, Q4KLH6, Q5TB80, Q6ZQ06, Q91365
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 82 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 |
|---|---|---|---|
| Activation of BAD and translocation to mitochondria | 5 | 82.8× | 8e-08 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 5 | 73.0× | 1e-07 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 5 | 73.0× | 1e-07 |
| Activation of BH3-only proteins | 5 | 54.0× | 5e-07 |
| RHO GTPases activate PKNs | 7 | 48.3× | 5e-09 |
| Intrinsic Pathway for Apoptosis | 5 | 31.8× | 7e-06 |
| Loss of Nlp from mitotic centrosomes | 9 | 31.0× | 2e-09 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 9 | 31.0× | 2e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intracellular protein localization | 7 | 10.5× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
247 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 202 |
| Likely benign | 15 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1340905 | GRCh37/hg19 6q14.1-15(chr6:83141523-88023466)x1 | Pathogenic |
SpliceAI
4163 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:84125273:TTAT:T | acceptor_gain | 1.0000 |
| 6:84125275:ATCT:A | acceptor_loss | 1.0000 |
| 6:84125276:TC:T | acceptor_loss | 1.0000 |
| 6:84125277:C:CA | acceptor_loss | 1.0000 |
| 6:84125277:C:CC | acceptor_gain | 1.0000 |
| 6:84126371:A:AC | donor_gain | 1.0000 |
| 6:84126372:C:CC | donor_gain | 1.0000 |
| 6:84126372:CTTTA:C | donor_gain | 1.0000 |
| 6:84126373:TTTA:T | donor_loss | 1.0000 |
| 6:84126375:TACCT:T | donor_loss | 1.0000 |
| 6:84126508:GTAAT:G | acceptor_gain | 1.0000 |
| 6:84126509:TAAT:T | acceptor_gain | 1.0000 |
| 6:84126510:AAT:A | acceptor_gain | 1.0000 |
| 6:84126510:AATCT:A | acceptor_loss | 1.0000 |
| 6:84126511:AT:A | acceptor_gain | 1.0000 |
| 6:84126511:ATCTA:A | acceptor_loss | 1.0000 |
| 6:84126512:TCTAA:T | acceptor_loss | 1.0000 |
| 6:84126513:C:CA | acceptor_loss | 1.0000 |
| 6:84126513:C:CC | acceptor_gain | 1.0000 |
| 6:84126514:T:C | acceptor_loss | 1.0000 |
| 6:84126519:T:C | acceptor_gain | 1.0000 |
| 6:84126519:T:TC | acceptor_gain | 1.0000 |
| 6:84126523:C:CT | acceptor_gain | 1.0000 |
| 6:84126524:A:C | acceptor_gain | 1.0000 |
| 6:84149557:TCTAC:T | donor_loss | 1.0000 |
| 6:84149558:CTAC:C | donor_loss | 1.0000 |
| 6:84149559:TACC:T | donor_loss | 1.0000 |
| 6:84149560:A:C | donor_loss | 1.0000 |
| 6:84149561:C:CA | donor_loss | 1.0000 |
| 6:84149561:CCT:C | donor_gain | 1.0000 |
AlphaMissense
9407 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:84125164:A:G | L1373P | 0.997 |
| 6:84126482:C:G | A1301P | 0.996 |
| 6:84160816:C:G | R926P | 0.996 |
| 6:84160822:A:G | L924P | 0.996 |
| 6:84125134:A:G | L1383P | 0.995 |
| 6:84125143:A:G | L1380P | 0.995 |
| 6:84125175:G:C | F1369L | 0.995 |
| 6:84125175:G:T | F1369L | 0.995 |
| 6:84125177:A:G | F1369L | 0.995 |
| 6:84155377:A:G | L972P | 0.995 |
| 6:84174064:A:G | L717P | 0.995 |
| 6:84125219:A:G | W1355R | 0.994 |
| 6:84125219:A:T | W1355R | 0.994 |
| 6:84126502:A:G | L1294P | 0.994 |
| 6:84155365:A:G | L976P | 0.994 |
| 6:84125173:C:G | R1370P | 0.993 |
| 6:84155332:A:G | L987P | 0.993 |
| 6:84161849:A:G | L858P | 0.993 |
| 6:84126385:A:G | L1333P | 0.992 |
| 6:84146697:A:G | L1287P | 0.992 |
| 6:84155444:C:G | A950P | 0.992 |
| 6:84171684:A:G | L734P | 0.992 |
| 6:84174067:A:G | L716P | 0.992 |
| 6:84174076:T:G | Q713P | 0.992 |
| 6:84126396:T:A | R1329S | 0.991 |
| 6:84126396:T:G | R1329S | 0.991 |
| 6:84146709:C:G | R1283P | 0.991 |
| 6:84155329:C:G | R988P | 0.991 |
| 6:84155468:A:G | S942P | 0.991 |
| 6:84174737:A:G | L672P | 0.991 |
dbSNP variants (sampled 300 via entrez): RS1000001373 (6:84145626 C>T), RS1000035564 (6:84147333 G>A,C,T), RS1000049974 (6:84223864 C>A), RS1000083753 (6:84140560 C>A,T), RS1000136765 (6:84195464 T>C), RS1000158644 (6:84176949 T>A), RS1000200567 (6:84134070 C>A), RS1000202527 (6:84193957 C>A,T), RS1000203314 (6:84165469 AC>A), RS1000228453 (6:84158741 TA>T), RS1000241811 (6:84146931 T>C,G), RS1000285861 (6:84172221 A>C), RS1000307032 (6:84206311 T>G), RS1000311500 (6:84225664 T>G), RS1000331194 (6:84140207 G>A)
Disease associations
OMIM: gene MIM:610201 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002684_1 | Diabetic retinopathy in type 2 diabetes | 1.000000e-06 |
| GCST003996_36 | Monobrow | 2.000000e-19 |
| GCST009391_112 | Metabolite levels | 4.000000e-08 |
| GCST009391_125 | Metabolite levels | 2.000000e-07 |
| GCST009391_1841 | Metabolite levels | 3.000000e-07 |
| GCST009391_1854 | Metabolite levels | 3.000000e-06 |
| GCST009391_62 | Metabolite levels | 5.000000e-06 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007906 | synophrys measurement |
| EFO:0010354 | diacylglycerol 36:1 measurement |
| EFO:0010355 | diacylglycerol 36:2 measurement |
| EFO:0010413 | triacylglycerol 52:1 measurement |
| EFO:0010410 | triacylglycerol 50:3 measurement |
| EFO:0010352 | diacylglycerol 34:1 measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases methylation, increases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases methylation | 1 |
| sodium arsenite | affects methylation | 1 |
| butyraldehyde | decreases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| abrine | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Vorinostat | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Gallic Acid | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Progesterone | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin M1 | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): diabetic retinopathy