COTL1
gene geneOn this page
Also known as CLP
Summary
COTL1 (coactosin like F-actin binding protein 1, HGNC:18304) is a protein-coding gene on chromosome 16q24.1, encoding Coactosin-like protein (Q14019). Binds to F-actin in a calcium-independent manner.
This gene encodes one of the numerous actin-binding proteins which regulate the actin cytoskeleton. This protein binds F-actin, and also interacts with 5-lipoxygenase, which is the first committed enzyme in leukotriene biosynthesis. Although this gene has been reported to map to chromosome 17 in the Smith-Magenis syndrome region, the best alignments for this gene are to chromosome 16. The Smith-Magenis syndrome region is the site of two related pseudogenes.
Source: NCBI Gene 23406 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 44 total
- MANE Select transcript:
NM_021149
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18304 |
| Approved symbol | COTL1 |
| Name | coactosin like F-actin binding protein 1 |
| Location | 16q24.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CLP |
| Ensembl gene | ENSG00000103187 |
| Ensembl biotype | protein_coding |
| OMIM | 606748 |
| Entrez | 23406 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 3 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000262428, ENST00000561707, ENST00000564057, ENST00000564662, ENST00000567278, ENST00000567786
RefSeq mRNA: 1 — MANE Select: NM_021149
NM_021149
CCDS: CCDS10947
Canonical transcript exons
ENST00000262428 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000945794 | 84617501 | 84617583 |
| ENSE00001236259 | 84617838 | 84618078 |
| ENSE00001325288 | 84565596 | 84566955 |
| ENSE00003507433 | 84590105 | 84590262 |
Expression profiles
Bgee: expression breadth ubiquitous, 283 present calls, max score 99.65.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 211.5585 / max 2828.5509, expressed in 1822 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 158365 | 186.1083 | 1822 |
| 158364 | 23.8797 | 1762 |
| 158360 | 0.7695 | 408 |
| 158363 | 0.4763 | 234 |
| 158359 | 0.3247 | 176 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 99.65 | gold quality |
| leukocyte | CL:0000738 | 99.63 | gold quality |
| granulocyte | CL:0000094 | 99.62 | gold quality |
| mononuclear cell | CL:0000842 | 99.62 | gold quality |
| blood | UBERON:0000178 | 99.49 | gold quality |
| spleen | UBERON:0002106 | 99.09 | gold quality |
| vermiform appendix | UBERON:0001154 | 98.93 | gold quality |
| lymph node | UBERON:0000029 | 98.86 | gold quality |
| cortical plate | UBERON:0005343 | 98.36 | gold quality |
| caecum | UBERON:0001153 | 98.10 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 97.56 | gold quality |
| retina | UBERON:0000966 | 97.53 | gold quality |
| ganglionic eminence | UBERON:0004023 | 97.36 | gold quality |
| embryo | UBERON:0000922 | 97.15 | gold quality |
| bone marrow | UBERON:0002371 | 97.04 | gold quality |
| gall bladder | UBERON:0002110 | 97.03 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 96.86 | gold quality |
| right lung | UBERON:0002167 | 96.85 | gold quality |
| body of stomach | UBERON:0001161 | 96.83 | gold quality |
| pylorus | UBERON:0001166 | 96.78 | gold quality |
| cranial nerve II | UBERON:0000941 | 96.74 | gold quality |
| bone marrow cell | CL:0002092 | 96.72 | gold quality |
| stromal cell of endometrium | CL:0002255 | 96.68 | gold quality |
| spinal cord | UBERON:0002240 | 96.63 | gold quality |
| pericardium | UBERON:0002407 | 96.34 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 96.29 | gold quality |
| decidua | UBERON:0002450 | 96.15 | gold quality |
| nephron tubule | UBERON:0001231 | 96.09 | gold quality |
| bone element | UBERON:0001474 | 96.04 | gold quality |
| upper lobe of lung | UBERON:0008948 | 96.04 | gold quality |
Single-cell (SCXA)
Detected in 50 experiment(s), a significant marker in 41.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6678 | yes | 8293.41 |
| E-MTAB-6701 | yes | 5633.52 |
| E-GEOD-149689 | yes | 4069.72 |
| E-CURD-55 | yes | 3727.49 |
| E-MTAB-10287 | yes | 2955.18 |
| E-GEOD-139324 | yes | 2915.01 |
| E-CURD-122 | yes | 2870.51 |
| E-HCAD-24 | yes | 2814.38 |
| E-MTAB-10553 | yes | 2374.60 |
| E-GEOD-106540 | yes | 2215.50 |
| E-MTAB-8911 | yes | 1986.45 |
| E-HCAD-15 | yes | 1940.59 |
| E-MTAB-8322 | yes | 1908.51 |
| E-MTAB-9906 | yes | 1646.96 |
| E-GEOD-150728 | yes | 1482.05 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
66 targeting COTL1, 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-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-7856-5P | 99.75 | 69.99 | 2901 |
| HSA-MIR-3714 | 99.71 | 70.74 | 2671 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-4690-5P | 99.65 | 66.24 | 813 |
| HSA-MIR-4743-3P | 99.62 | 68.12 | 2095 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
Literature-anchored findings (GeneRIF, showing 15)
- CLP 57-65 peptide elicits immediate-type hypersensitivity. Identical peptides are recognized by cellular and humoral immune systems to a tumor-associated antigen. CLP 15-24 and 104-113 might be used for peptide-based immunotherapy of HLA-A2(+) cancers. (PMID:11870627)
- NMR resonance assignments and the secondary structures of human Coactosin like protein (hCLP) D123N (PMID:15213466)
- coactosin-like protein (CLP) is an actin-binding protein as well as a 5-lipoxygenase binding partner (PMID:15333945)
- structural analysis shows that CLP forms a polymer along the crystallographic b axis with the exact same repeat distance as F-actin; a model for the CLP polymer and F-actin binding has therefore been proposed. (PMID:15459340)
- preliminary crystallographic studies of human coactosin-like protein (CLP) (PMID:15583396)
- Coactosin-like protein (CLP) up-regulates Ca(2+)-induced 5-lipoxygenase (5LO) activity, and increases the amount of Leukotriene A(4) formed by 5LO. (PMID:16924104)
- extended region of beta4-beta5 of hCLP (residue 66-75) was found very flexible and very important for F-actin binding. The C-terminal residues of human coactosin-like protein were not involved in F-actin binding (PMID:17070122)
- We found that coactosin-like1 (COTL1) were highly expressed in rheumatoid arthritis patients compared with healthy controls (PMID:19307756)
- Results of the present study support a role for CLP as a chaperoning scaffold factor, influencing both the stability and the activity of 5-LO. (PMID:19807693)
- Up-regulated COTL-1 expression in small cell lung cancer was validated by Western blot analysis, immunohistochemistry, and qRT-qPCR. (PMID:21047053)
- PAI-RBP1 and C1orf142 expression levels are higher in 95D (high metastatic potential) than in 95C (low metastatic potential) non-small lung cancer cells, whereas COTL1 expression level is lower in 95D when compared to 95C cells. (PMID:22373659)
- COTL1 regulates lamellipodia dynamics in part by protecting F-actin from cofilin-mediated disassembly. (PMID:24454796)
- The roles of CLP and FLAP in in cellular leukotriene biosynthesis, were studied. (PMID:25034252)
- our combined results elucidated genetic and epigenetic silencing of miR-506-3p enhances COTL1 oncogene expression to foster NSCLC progression. (PMID:27893417)
- Study uncovers a novel tumor-suppressor role for CLP/Cotl1 and identify the downstream effectors interleukin 24 (IL-24)/PERP and IL-24/MAPK/ERK/TGF-beta. (PMID:28925397)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cotl1 | ENSDARG00000026829 |
| mus_musculus | Cotl1 | ENSMUSG00000031827 |
| rattus_norvegicus | Cotl1 | ENSRNOG00000016257 |
| drosophila_melanogaster | CG6891 | FBGN0030955 |
Paralogs (4): CTTN (ENSG00000085733), DBN1 (ENSG00000113758), DBNL (ENSG00000136279), HCLS1 (ENSG00000180353)
Protein
Protein identifiers
Coactosin-like protein — Q14019 (reviewed: Q14019)
All UniProt accessions (4): Q14019, A0A087WWC7, A0A384MTY2, H3BT58
UniProt curated annotations — full annotation on UniProt →
Function. Binds to F-actin in a calcium-independent manner. Has no direct effect on actin depolymerization. Acts as a chaperone for ALOX5 (5LO), influencing both its stability and activity in leukotrienes synthesis.
Subunit / interactions. Interacts with 5-lipoxygenase (ALOX5/5LO) in a calcium-independent manner. Binds to F-actin with a stoichiometry of 1:2.
Subcellular location. Cytoplasm. Cytoskeleton. Nucleus.
Tissue specificity. Widely expressed with highest levels in placenta, lung, kidney and peripheral blood leukocytes and lower levels in brain, liver and pancreas.
Similarity. Belongs to the actin-binding proteins ADF family. Coactosin subfamily.
RefSeq proteins (1): NP_066972* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002108 | ADF-H | Domain |
| IPR029006 | ADF-H/Gelsolin-like_dom_sf | Homologous_superfamily |
Pfam: PF00241
UniProt features (28 total): strand 8, helix 6, mutagenesis site 5, modified residue 3, initiator methionine 1, chain 1, sequence conflict 1, domain 1, turn 1, region of interest 1
Structure
Experimental structures (PDB)
6 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1T3Y | X-RAY DIFFRACTION | 1.15 |
| 1VFQ | X-RAY DIFFRACTION | 1.9 |
| 1T3X | X-RAY DIFFRACTION | 2 |
| 1T2L | X-RAY DIFFRACTION | 2.8 |
| 1TMW | SOLUTION NMR | |
| 1WNJ | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q14019-F1 | 90.77 | 0.83 |
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 (3): 2, 102, 126
Mutagenesis-validated functional residues (5):
| Position | Phenotype |
|---|---|
| 131 | abolishes 5lo-binding activity. |
| 131 | no effect on 5lo-binding activity. |
| 75 | abolishes actin-binding activity. |
| 130 | no effect on 5lo-binding activity. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6798695 | Neutrophil degranulation |
MSigDB gene sets: 358 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, WALLACE_PROSTATE_CANCER_RACE_UP, REACTOME_INNATE_IMMUNE_SYSTEM, GOCC_SECRETORY_GRANULE, ZHAN_MULTIPLE_MYELOMA_MF_UP, STEARMAN_LUNG_CANCER_EARLY_VS_LATE_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, MCBRYAN_PUBERTAL_TGFB1_TARGETS_UP, HUMMERICH_MALIGNANT_SKIN_TUMOR_UP, CACCAGC_MIR138, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, WIELAND_UP_BY_HBV_INFECTION
GO Biological Process (2): regulation of actin filament polymerization (GO:0030833), defense response to fungus (GO:0050832)
GO Molecular Function (4): actin binding (GO:0003779), enzyme binding (GO:0019899), actin filament binding (GO:0051015), protein binding (GO:0005515)
GO Cellular Component (11): extracellular region (GO:0005576), nucleus (GO:0005634), cytosol (GO:0005829), site of polarized growth (GO:0030427), cortical actin cytoskeleton (GO:0030864), secretory granule lumen (GO:0034774), extracellular exosome (GO:0070062), ficolin-1-rich granule lumen (GO:1904813), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), actin filament (GO:0005884)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| actin cytoskeleton | 2 |
| regulation of actin polymerization or depolymerization | 1 |
| actin filament polymerization | 1 |
| regulation of protein polymerization | 1 |
| defense response | 1 |
| response to fungus | 1 |
| cytoskeletal protein binding | 1 |
| protein binding | 1 |
| actin binding | 1 |
| protein-containing complex binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasm | 1 |
| cortical cytoskeleton | 1 |
| secretory granule | 1 |
| cytoplasmic vesicle lumen | 1 |
| extracellular vesicle | 1 |
| intracellular organelle lumen | 1 |
| ficolin-1-rich granule | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| polymeric cytoskeletal fiber | 1 |
Protein interactions and networks
STRING
1194 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| COTL1 | ALOX5 | P09917 | 945 |
| COTL1 | ALOX5AP | P20292 | 787 |
| COTL1 | LTA4H | P09960 | 674 |
| COTL1 | LTC4S | Q16873 | 523 |
| COTL1 | CFL1 | P23528 | 446 |
| COTL1 | POTEF | A5A3E0 | 434 |
| COTL1 | ACTB | P02570 | 424 |
| COTL1 | PFN1 | P07737 | 415 |
| COTL1 | CCL3 | P10147 | 403 |
| COTL1 | CXCL2 | P19875 | 390 |
| COTL1 | CFL2 | Q9Y281 | 389 |
| COTL1 | MMP2 | P08253 | 388 |
| COTL1 | TUBB | P05218 | 386 |
| COTL1 | TCIRG1 | Q13488 | 384 |
| COTL1 | AGT | P01019 | 382 |
IntAct
27 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| COTL1 | ALOX5 | psi-mi:“MI:0407”(direct interaction) | 0.700 |
| ALOX5 | COTL1 | psi-mi:“MI:0915”(physical association) | 0.700 |
| COTL1 | PDE6H | psi-mi:“MI:0915”(physical association) | 0.560 |
| PDE6H | COTL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| COTL1 | TERF2IP | psi-mi:“MI:0915”(physical association) | 0.510 |
| COTL1 | psi-mi:“MI:0407”(direct interaction) | 0.440 | |
| COTL1 | PPIB | psi-mi:“MI:0915”(physical association) | 0.400 |
| COTL1 | CANX | psi-mi:“MI:0915”(physical association) | 0.400 |
| TK2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| SH2D3C | ANXA2P2 | psi-mi:“MI:0914”(association) | 0.350 |
| rep | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| SHTN1 | psi-mi:“MI:0914”(association) | 0.350 | |
| RHOG | COPE | psi-mi:“MI:0914”(association) | 0.350 |
| CACNA1C | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.350 |
| CFTR | UBA6 | psi-mi:“MI:2364”(proximity) | 0.270 |
| MAPT | PITPNM1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| PINX1 | COTL1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| VHL | COTL1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| PRKAB1 | COTL1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| IKBKE | COTL1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| COTL1 | TERF2IP | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (83): ALOX5 (Reconstituted Complex), COTL1 (Two-hybrid), ARHGDIA (Co-fractionation), CFL1 (Co-fractionation), COTL1 (Co-fractionation), COTL1 (Co-fractionation), COTL1 (Co-fractionation), CRIP1 (Co-fractionation), DUT (Co-fractionation), HN1 (Co-fractionation), MDH2 (Co-fractionation), PCBP1 (Co-fractionation), SH3BGRL (Co-fractionation), TAGLN2 (Co-fractionation), TIAL1 (Co-fractionation)
ESM2 similar proteins: A0PJN4, A1L167, A2VDL8, B0BNA5, F1LMZ8, O00231, O88544, O88761, O94973, P17427, P18484, P21566, P22234, P38024, P45591, P48444, P51583, P61201, P61202, P61203, P79101, P97834, Q01405, Q0VCK5, Q14019, Q148F1, Q15436, Q2HJ57, Q2KI42, Q2TBL9, Q3SZA0, Q3TXS7, Q5F418, Q5G6V9, Q5R5S4, Q5R9J9, Q5R9P3, Q5RA77, Q5RB59, Q6IQT4
Diamond homologs: B0BNA5, C4M4P4, P34121, Q14019, Q2HJ57, Q9CQI6, A6H7G2, Q62418, Q6GM14, Q7ZXQ9, Q9JHL4, Q9P7E8, Q9UJU6, Q9VU84
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
44 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 29 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
693 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:84566952:AATT:A | acceptor_gain | 1.0000 |
| 16:84566953:ATT:A | acceptor_gain | 1.0000 |
| 16:84566954:TT:T | acceptor_gain | 1.0000 |
| 16:84566955:TCT:T | acceptor_loss | 1.0000 |
| 16:84566956:C:CA | acceptor_loss | 1.0000 |
| 16:84566956:C:CC | acceptor_gain | 1.0000 |
| 16:84566957:T:G | acceptor_loss | 1.0000 |
| 16:84590102:TACC:T | donor_loss | 1.0000 |
| 16:84590103:A:T | donor_loss | 1.0000 |
| 16:84590115:T:TA | donor_gain | 1.0000 |
| 16:84590258:GTCAT:G | acceptor_gain | 1.0000 |
| 16:84590259:TCAT:T | acceptor_gain | 1.0000 |
| 16:84590260:CAT:C | acceptor_gain | 1.0000 |
| 16:84590260:CATC:C | acceptor_gain | 1.0000 |
| 16:84590261:AT:A | acceptor_gain | 1.0000 |
| 16:84590262:TCTG:T | acceptor_loss | 1.0000 |
| 16:84590263:C:CC | acceptor_gain | 1.0000 |
| 16:84590264:T:A | acceptor_loss | 1.0000 |
| 16:84590270:C:CT | acceptor_gain | 1.0000 |
| 16:84590270:C:T | acceptor_gain | 1.0000 |
| 16:84590271:A:T | acceptor_gain | 1.0000 |
| 16:84590276:C:CT | acceptor_gain | 1.0000 |
| 16:84590277:G:T | acceptor_gain | 1.0000 |
| 16:84617583:CCTT:C | acceptor_gain | 1.0000 |
| 16:84617591:T:C | acceptor_gain | 1.0000 |
| 16:84617832:TCCTA:T | donor_loss | 1.0000 |
| 16:84617833:CCTAC:C | donor_loss | 1.0000 |
| 16:84617834:CTAC:C | donor_loss | 1.0000 |
| 16:84617835:TA:T | donor_loss | 1.0000 |
| 16:84617836:A:AC | donor_gain | 1.0000 |
AlphaMissense
940 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:84566865:A:G | Y137H | 1.000 |
| 16:84566873:C:T | G134E | 1.000 |
| 16:84566888:A:G | L129P | 1.000 |
| 16:84590148:G:T | A92D | 1.000 |
| 16:84590182:A:G | W81R | 1.000 |
| 16:84590182:A:T | W81R | 1.000 |
| 16:84590195:A:C | F76L | 1.000 |
| 16:84590195:A:T | F76L | 1.000 |
| 16:84590197:A:G | F76L | 1.000 |
| 16:84590198:C:A | K75N | 1.000 |
| 16:84590198:C:G | K75N | 1.000 |
| 16:84590200:T:C | K75E | 1.000 |
| 16:84590204:C:A | R73S | 1.000 |
| 16:84590204:C:G | R73S | 1.000 |
| 16:84590205:C:A | R73M | 1.000 |
| 16:84566864:T:C | Y137C | 0.999 |
| 16:84566870:G:T | A135D | 0.999 |
| 16:84566874:C:G | G134R | 0.999 |
| 16:84566874:C:T | G134R | 0.999 |
| 16:84566943:C:T | E111K | 0.999 |
| 16:84566948:G:T | A109D | 0.999 |
| 16:84590109:A:T | V105E | 0.999 |
| 16:84590121:A:T | V101E | 0.999 |
| 16:84590129:C:A | K98N | 0.999 |
| 16:84590129:C:G | K98N | 0.999 |
| 16:84590151:C:G | R91P | 0.999 |
| 16:84590152:G:T | R91S | 0.999 |
| 16:84590175:C:A | G83V | 0.999 |
| 16:84590175:C:T | G83D | 0.999 |
| 16:84590176:C:G | G83R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000003468 (16:84618697 C>T), RS1000049611 (16:84582515 C>A,T), RS1000107960 (16:84566073 G>C), RS1000108055 (16:84615831 C>T), RS1000177914 (16:84602991 G>A), RS1000188332 (16:84591026 T>C), RS1000273071 (16:84611970 C>T), RS1000303334 (16:84566500 C>T), RS1000306109 (16:84591267 T>C), RS1000344734 (16:84578131 C>G,T), RS1000354768 (16:84618927 A>T), RS1000355292 (16:84582310 A>T), RS1000357461 (16:84595280 G>C), RS1000387783 (16:84582164 T>G), RS1000420430 (16:84566341 G>A)
Disease associations
OMIM: gene MIM:606748 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002949_20 | Epilepsy and lamotrigine-induced maculopapular eruptions | 9.000000e-07 |
| GCST005652_8 | Cleft lip with or without cleft palate (maternal periconceptional vitamin use interaction) | 6.000000e-06 |
| GCST006976_101 | Macular thickness | 2.000000e-13 |
| GCST006979_635 | Heel bone mineral density | 5.000000e-09 |
| GCST008399_6 | Cocaine dependence | 9.000000e-06 |
| GCST010151_24 | Carotid intima media thickness x smoking interaction | 5.000000e-06 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:1001253 | maculopapular eruption |
| EFO:0003959 | cleft lip |
| EFO:0009116 | vitamin supplement exposure measurement |
| EFO:0009270 | heel bone mineral density |
| EFO:0006527 | smoking status measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
72 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| methylmercuric chloride | increases expression, affects cotreatment | 4 |
| bisphenol A | decreases expression, increases expression, affects cotreatment | 4 |
| Valproic Acid | affects expression, increases expression | 4 |
| Benzo(a)pyrene | decreases expression, affects methylation | 3 |
| Cyclosporine | decreases expression | 3 |
| sodium arsenite | decreases expression, increases expression | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 2 |
| Doxorubicin | affects expression, decreases expression | 2 |
| Phenylmercuric Acetate | increases expression, affects cotreatment | 2 |
| Smoke | decreases expression, increases expression | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| Tretinoin | affects cotreatment, increases expression | 2 |
| Aflatoxin B1 | increases expression | 2 |
| Cadmium Chloride | increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| beauvericin | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| glycidyl methacrylate | increases expression | 1 |
| pyrogallol 1,3-dimethyl ether | decreases expression, affects cotreatment | 1 |
| trichostatin A | affects expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| cobaltous chloride | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, increases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| isobutyl alcohol | affects cotreatment, increases abundance, increases 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): cocaine dependence