SMTN
gene geneOn this page
Summary
SMTN (smoothelin, HGNC:11126) is a protein-coding gene on chromosome 22q12.2, encoding Smoothelin (P53814). Structural protein of the cytoskeleton.
This gene encodes a structural protein that is found exclusively in contractile smooth muscle cells. It associates with stress fibers and constitutes part of the cytoskeleton. This gene is localized to chromosome 22q12.3, distal to the TUPLE1 locus and outside the DiGeorge syndrome deletion. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms.
Source: NCBI Gene 6525 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 222 total
- MANE Select transcript:
NM_134269
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11126 |
| Approved symbol | SMTN |
| Name | smoothelin |
| Location | 22q12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000183963 |
| Ensembl biotype | protein_coding |
| OMIM | 602127 |
| Entrez | 6525 |
Gene structure
Transcript identifiers
Ensembl transcripts: 50 — 41 protein_coding, 7 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000333137, ENST00000347557, ENST00000358743, ENST00000404574, ENST00000416786, ENST00000422839, ENST00000426927, ENST00000431481, ENST00000432777, ENST00000438223, ENST00000440425, ENST00000455608, ENST00000460658, ENST00000466272, ENST00000472911, ENST00000475548, ENST00000482444, ENST00000489337, ENST00000493335, ENST00000497697, ENST00000504335, ENST00000612341, ENST00000619644, ENST00000624247, ENST00000897095, ENST00000897096, ENST00000897097, ENST00000897098, ENST00000897099, ENST00000897100, ENST00000897101, ENST00000897102, ENST00000897103, ENST00000897104, ENST00000897105, ENST00000897106, ENST00000897107, ENST00000897108, ENST00000951807, ENST00000951808, ENST00000951809, ENST00000951810, ENST00000951811, ENST00000951812, ENST00000951813, ENST00000951814, ENST00000951815, ENST00000951816, ENST00000951817, ENST00000951818
RefSeq mRNA: 16 — MANE Select: NM_134269
NM_001207017, NM_001207018, NM_001382638, NM_001382639, NM_001382640, NM_001382641, NM_001382642, NM_001382643, NM_001382644, NM_001382645, NM_001382646, NM_001382647, NM_001382648, NM_006932, NM_134269, NM_134270
CCDS: CCDS13886, CCDS13887, CCDS13888, CCDS74845, CCDS74846
Canonical transcript exons
ENST00000333137 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001675209 | 31088513 | 31088606 |
| ENSE00003495028 | 31087965 | 31088113 |
| ENSE00003495156 | 31104316 | 31104624 |
| ENSE00003542263 | 31099062 | 31099179 |
| ENSE00003624755 | 31083179 | 31083309 |
| ENSE00003997936 | 31096998 | 31097060 |
| ENSE00003997937 | 31097269 | 31097338 |
| ENSE00003997938 | 31095303 | 31095455 |
| ENSE00003997939 | 31091675 | 31091847 |
| ENSE00003997940 | 31100885 | 31101049 |
| ENSE00003997942 | 31081318 | 31081456 |
| ENSE00003997943 | 31090961 | 31091482 |
| ENSE00003997944 | 31090108 | 31090180 |
| ENSE00003997945 | 31088699 | 31088777 |
| ENSE00003997948 | 31096733 | 31096897 |
| ENSE00003997949 | 31098667 | 31098840 |
| ENSE00003997950 | 31088872 | 31088969 |
| ENSE00003997951 | 31099745 | 31099896 |
| ENSE00003997952 | 31090808 | 31090879 |
| ENSE00003997953 | 31095534 | 31095609 |
| ENSE00003997954 | 31089699 | 31090019 |
Expression profiles
Bgee: expression breadth ubiquitous, 242 present calls, max score 99.74.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.0581 / max 1400.8263, expressed in 1680 samples.
FANTOM5 promoters (18 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 191736 | 24.1321 | 1661 |
| 191742 | 2.9288 | 51 |
| 191735 | 1.1033 | 225 |
| 191751 | 0.7482 | 99 |
| 191745 | 0.3665 | 188 |
| 191739 | 0.1762 | 70 |
| 191750 | 0.1130 | 32 |
| 191743 | 0.0963 | 30 |
| 191737 | 0.0930 | 33 |
| 191749 | 0.0603 | 32 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus muscularis layer | UBERON:0035833 | 99.74 | gold quality |
| lower esophagus | UBERON:0013473 | 99.73 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 99.65 | gold quality |
| mucosa of stomach | UBERON:0001199 | 99.62 | gold quality |
| popliteal artery | UBERON:0002250 | 99.56 | gold quality |
| tibial artery | UBERON:0007610 | 99.56 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 99.56 | gold quality |
| aorta | UBERON:0000947 | 99.39 | gold quality |
| body of uterus | UBERON:0009853 | 99.39 | gold quality |
| apex of heart | UBERON:0002098 | 99.26 | gold quality |
| left uterine tube | UBERON:0001303 | 99.25 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 99.25 | gold quality |
| ascending aorta | UBERON:0001496 | 99.22 | gold quality |
| thoracic aorta | UBERON:0001515 | 99.22 | gold quality |
| right coronary artery | UBERON:0001625 | 99.21 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 99.17 | gold quality |
| sural nerve | UBERON:0015488 | 98.91 | gold quality |
| left coronary artery | UBERON:0001626 | 98.83 | gold quality |
| tibial nerve | UBERON:0001323 | 98.82 | gold quality |
| coronary artery | UBERON:0001621 | 98.50 | gold quality |
| right atrium auricular region | UBERON:0006631 | 98.35 | gold quality |
| endocervix | UBERON:0000458 | 98.12 | gold quality |
| myometrium | UBERON:0001296 | 98.05 | gold quality |
| saphenous vein | UBERON:0007318 | 98.03 | gold quality |
| colonic epithelium | UBERON:0000397 | 97.94 | gold quality |
| fundus of stomach | UBERON:0001160 | 97.61 | gold quality |
| heart left ventricle | UBERON:0002084 | 97.60 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 97.40 | gold quality |
| cardiac ventricle | UBERON:0002082 | 97.39 | gold quality |
| cardiac atrium | UBERON:0002081 | 97.37 | gold quality |
Single-cell (SCXA)
Detected in 8 experiment(s), a significant marker in 8.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10287 | yes | 62.52 |
| E-MTAB-6678 | yes | 26.89 |
| E-MTAB-7316 | yes | 24.68 |
| E-MTAB-8410 | yes | 22.82 |
| E-CURD-112 | yes | 11.01 |
| E-HCAD-11 | yes | 9.69 |
| E-ANND-3 | yes | 8.52 |
| E-MTAB-9067 | yes | 7.71 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): HEY2, HEYL, NOTCH1, RBPJ
miRNA regulators (miRDB)
14 targeting SMTN, 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-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-548O-3P | 99.74 | 69.30 | 2228 |
| HSA-MIR-4472 | 99.56 | 66.08 | 1478 |
| HSA-MIR-374A-3P | 98.87 | 67.82 | 1531 |
| HSA-MIR-6887-5P | 98.56 | 68.49 | 1295 |
| HSA-MIR-6795-5P | 98.52 | 68.51 | 1277 |
| HSA-MIR-299-3P | 97.73 | 66.67 | 773 |
| HSA-MIR-1237-5P | 95.38 | 62.21 | 451 |
| HSA-MIR-4488 | 95.38 | 62.00 | 443 |
| HSA-MIR-4697-5P | 95.38 | 61.72 | 457 |
Literature-anchored findings (GeneRIF, showing 18)
- immunohistochemistry, using a panel composed of desmin, smoothelin, and vimentin, may be potentially useful for staging of bladder carcinoma. (PMID:19252475)
- Suggest that the extent and pattern of smoothelin expression may help differentiate between benign and malignant mesenchymal tumors of the GI tract. (PMID:19950405)
- Confirm the relatively distinct staining pattern of smoothelin between muscularis mucosae and muscularis propria and suggest caution when using smoothelin immunohistochemistry as a diagnostic tool. (PMID:20154589)
- Smoothelin immunohistochemistry has diagnostic utility in the evaluation of muscularis propria invasion in urothelial carcinoma. (PMID:20636795)
- The expression of smoothelin was analysed immunohistochemically in comparison with alpha-smooth muscle actin (alpha-SMA) in specimens from colon, stomach and oesophagus (n = 107). (PMID:20716166)
- Immunohistochemistry for smoothelin identifies differential staining between the neomuscularis mucosa and the true muscularis mucosa in Barrett’s esophagus. (PMID:21164287)
- We report the first study of smoothelin expression in normal skin (PMID:21472682)
- Smoothelin immunoreactivity in bladder diverticula confirms limited nature of smoothelin expression in muscularis mucosae and represents useful ancillary technique in proper histopathologic evaluation of diverticular and nondiverticular bladder carcinoma (PMID:21683983)
- Phenotypic expression of alpha-smooth muscle actin, smooth muscle myosin heavy chain 2, and smoothelin were significantly decreased in the dissected media, whereas that of osteopontin was elevated. (PMID:22960022)
- for the Japanese women, the frequency of the C-T-T-G haplotype (established by rs5997872, rs56095120, rs9621187, and rs10304) was significantly higher in the myocardial infarction group than in the control group (PMID:22963604)
- Smoothelin haplotype constructed using rs5997872, rs56095120, rs9621187 and rs10304 was a useful genetic marker of cerebral infarction in Japanese men. (PMID:23033319)
- lower level of expresseion in colonic inertia patients (PMID:23060305)
- There is an association between essential hypertension and the SMTN gene. (PMID:23121329)
- The objective of the following study was to record the specificity and sensitivity of alpha5(IV) loss, smoothelin expression and PLAP expression as markers of gastrointestinal smooth muscle neoplasms (PMID:24043717)
- During development of advanced liver fibrosis, a subpopulation of myofibroblasts expressing smoothelin may be derived from vascular smooth muscle cells. (PMID:24409061)
- Caldesmon and smoothelin staining allows better delineation of the muscularis propria from the desmoplastic stromal reaction which provides a critical aide for proper staging of colonic adenocarcinomas. (PMID:24551305)
- Smoothelin is a specific marker for smooth muscle cells with contractile capacity which has not been widely studied in glomus lesions. in this study, glomic cells showed cytoplasmic positivity for smoothelin. Smoothelin expression in glomic cells indicates that they are contractile smooth muscle cells, and thus its role in routine diagnosis should be considered. (PMID:27184662)
- Analysis of Tumor Depth Invasion With Anti-Smoothelin Antibody in Equivocal Transurethral Resection of Urinary Bladder Tumor Surgical Specimens. (PMID:33090031)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Smtn | ENSMUSG00000020439 |
| rattus_norvegicus | Smtn | ENSRNOG00000019451 |
Protein
Protein identifiers
Smoothelin — P53814 (reviewed: P53814)
All UniProt accessions (12): P53814, A0A087WVP4, A0A087X1R1, A0A096LNK9, B5MCI0, C9JBH9, C9JGQ0, C9JP19, C9JQZ8, C9JV14, C9JYU8, H7C372
UniProt curated annotations — full annotation on UniProt →
Function. Structural protein of the cytoskeleton.
Subcellular location. Cytoplasm. Cytoskeleton.
Tissue specificity. Smooth muscle; contractile or vascular (for the long form).
Miscellaneous. Produced by alternative promoter usage.
Similarity. Belongs to the smoothelin family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P53814-1 | B, Long, B1, L1 | yes |
| P53814-2 | A, Short | |
| P53814-5 | B2, L2 | |
| P53814-6 | B3 |
RefSeq proteins (16): NP_001193946, NP_001193947, NP_001369567, NP_001369568, NP_001369569, NP_001369570, NP_001369571, NP_001369572, NP_001369573, NP_001369574, NP_001369575, NP_001369576, NP_001369577, NP_008863, NP_599031, NP_599032 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001715 | CH_dom | Domain |
| IPR022189 | SMTN | Domain |
| IPR036872 | CH_dom_sf | Homologous_superfamily |
| IPR050540 | F-actin_Monoox_Mical | Family |
Pfam: PF00307, PF12510
UniProt features (54 total): modified residue 15, compositionally biased region 12, sequence variant 7, helix 5, region of interest 3, splice variant 3, turn 2, coiled-coil region 2, initiator methionine 1, chain 1, domain 1, sequence conflict 1, strand 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2D87 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P53814-F1 | 60.38 | 0.19 |
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 (15): 2, 299, 301, 304, 341, 351, 357, 360, 373, 503, 514, 523, 576, 729, 792
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 181 (showing top):
MODULE_52, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, SP3_Q3, AREB6_03, TOMLINS_PROSTATE_CANCER_DN, CHANDRAN_METASTASIS_DN, BILD_HRAS_ONCOGENIC_SIGNATURE, MODULE_118, AMIT_EGF_RESPONSE_480_MCF10A, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOBP_MUSCLE_CONTRACTION, KOYAMA_SEMA3B_TARGETS_UP, FISCHER_G2_M_CELL_CYCLE
GO Biological Process (2): smooth muscle contraction (GO:0006939), muscle organ development (GO:0007517)
GO Molecular Function (3): actin binding (GO:0003779), structural constituent of muscle (GO:0008307), protein binding (GO:0005515)
GO Cellular Component (3): cytoskeleton (GO:0005856), actin cytoskeleton (GO:0015629), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| muscle contraction | 1 |
| animal organ development | 1 |
| muscle structure development | 1 |
| cytoskeletal protein binding | 1 |
| structural molecule activity | 1 |
| binding | 1 |
| intracellular membraneless organelle | 1 |
| cytoskeleton | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
918 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SMTN | MYH11 | P35749 | 780 |
| SMTN | HIRA | P54198 | 763 |
| SMTN | TAGLN | Q01995 | 763 |
| SMTN | CNN1 | P51911 | 759 |
| SMTN | MYOCD | Q8IZQ8 | 682 |
| SMTN | CALD1 | Q05682 | 620 |
| SMTN | FLNA | P21333 | 591 |
| SMTN | ACTA2 | P03996 | 576 |
| SMTN | ELN | P15502 | 559 |
| SMTN | TAGLN3 | Q9UI15 | 544 |
| SMTN | TAGLN2 | P37802 | 518 |
| SMTN | FLNC | Q14315 | 507 |
| SMTN | PPP1R12A | O14974 | 507 |
| SMTN | FLNB | O75369 | 503 |
| SMTN | DMD | P11532 | 498 |
IntAct
68 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| HRAS | RGL2 | psi-mi:“MI:0914”(association) | 0.660 |
| PIP | TBKBP1 | psi-mi:“MI:0914”(association) | 0.530 |
| CFTR | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| rep | ACTN4 | psi-mi:“MI:0914”(association) | 0.480 |
| SMTN | NCL | psi-mi:“MI:0915”(physical association) | 0.400 |
| BRMS1 | SMTN | psi-mi:“MI:0915”(physical association) | 0.370 |
| ALG3 | SMTN | psi-mi:“MI:0915”(physical association) | 0.370 |
| RIPK4 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| PB1 | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| PB1 | IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
| PB1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PB2 | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| PB2 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PB2 | SEC16A | psi-mi:“MI:0914”(association) | 0.350 |
| NS1 | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (47): SMTN (Affinity Capture-RNA), SMTN (Proximity Label-MS), SMTN (Affinity Capture-MS), SMTN (Affinity Capture-MS), SMTN (Affinity Capture-RNA), SMTN (Affinity Capture-MS), SMTN (Affinity Capture-MS), SMTN (Affinity Capture-MS), SMTN (Proximity Label-MS), SMTN (Proximity Label-MS), SMTN (Co-localization), SMTN (Affinity Capture-RNA), SMTN (Affinity Capture-MS), SMTN (Affinity Capture-MS), SMTN (Two-hybrid)
ESM2 similar proteins: A0A0U1RR37, A1L170, A1L1I3, A1L260, A2AMM0, A4IFJ0, B5G1P1, D3ZQL6, E7F5E1, G5BQH4, O08919, O54724, O60237, O75420, P06759, P33622, P53814, P85125, Q2KI85, Q2TAL5, Q3T044, Q3UMT1, Q4RTJ5, Q4V882, Q5I1X5, Q5U2R6, Q63312, Q6NZI2, Q75AS0, Q80VC9, Q8BG95, Q8BGT6, Q8C0J6, Q8CI12, Q8IV56, Q8K382, Q8N3F8, Q8TEH3, Q8WUF5, Q91VJ2
Diamond homologs: A5D7D1, A8MU46, D3ZEN0, D3ZHV2, D3ZQL6, D4A1F2, E1BBG2, E7F9T0, F1MF74, F1QH17, F1QWK4, F1RA39, F6QZ15, G3MWR8, G3V7L1, L7UZ85, M9MRD1, O13728, O15020, O43707, O76329, O88990, O94851, O97592, P05094, P05095, P11277, P11530, P11531, P11532, P11533, P12814, P15508, P18091, P20111, P30427, P35609, P46939, P53814, P57780
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
222 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 184 |
| Likely benign | 11 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3599 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:31083306:GCTG:G | donor_gain | 1.0000 |
| 22:31083307:CTGG:C | donor_loss | 1.0000 |
| 22:31083308:TGG:T | donor_loss | 1.0000 |
| 22:31083309:GGTAA:G | donor_loss | 1.0000 |
| 22:31083310:G:GG | donor_gain | 1.0000 |
| 22:31083310:G:T | donor_loss | 1.0000 |
| 22:31083311:T:A | donor_loss | 1.0000 |
| 22:31087960:T:A | acceptor_gain | 1.0000 |
| 22:31087960:TGCA:T | acceptor_loss | 1.0000 |
| 22:31087961:GCAG:G | acceptor_loss | 1.0000 |
| 22:31087962:CA:C | acceptor_loss | 1.0000 |
| 22:31087963:A:AG | acceptor_gain | 1.0000 |
| 22:31087963:A:G | acceptor_loss | 1.0000 |
| 22:31087963:AGCT:A | acceptor_gain | 1.0000 |
| 22:31087963:AGCTG:A | acceptor_gain | 1.0000 |
| 22:31087964:G:GA | acceptor_gain | 1.0000 |
| 22:31087964:GC:G | acceptor_gain | 1.0000 |
| 22:31087964:GCT:G | acceptor_gain | 1.0000 |
| 22:31087964:GCTG:G | acceptor_gain | 1.0000 |
| 22:31087964:GCTGG:G | acceptor_gain | 1.0000 |
| 22:31088109:CTGCA:C | donor_gain | 1.0000 |
| 22:31088110:TGCA:T | donor_gain | 1.0000 |
| 22:31088111:GCA:G | donor_gain | 1.0000 |
| 22:31088111:GCAG:G | donor_gain | 1.0000 |
| 22:31088112:CA:C | donor_gain | 1.0000 |
| 22:31088114:G:GG | donor_gain | 1.0000 |
| 22:31088114:G:T | donor_loss | 1.0000 |
| 22:31088116:G:GC | donor_loss | 1.0000 |
| 22:31088117:A:AC | donor_loss | 1.0000 |
| 22:31088118:G:C | donor_loss | 1.0000 |
AlphaMissense
5865 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:31099142:T:C | L805P | 1.000 |
| 22:31099145:T:C | L806P | 1.000 |
| 22:31099150:T:A | W808R | 1.000 |
| 22:31099150:T:C | W808R | 1.000 |
| 22:31099152:G:C | W808C | 1.000 |
| 22:31099152:G:T | W808C | 1.000 |
| 22:31099155:T:G | C809W | 1.000 |
| 22:31099749:T:A | V819D | 1.000 |
| 22:31099764:T:C | F824S | 1.000 |
| 22:31099775:T:A | W828R | 1.000 |
| 22:31099775:T:C | W828R | 1.000 |
| 22:31099777:G:C | W828C | 1.000 |
| 22:31099777:G:T | W828C | 1.000 |
| 22:31099784:G:T | G831W | 1.000 |
| 22:31099785:G:A | G831E | 1.000 |
| 22:31099785:G:T | G831V | 1.000 |
| 22:31099794:T:C | F834S | 1.000 |
| 22:31099803:T:C | L837P | 1.000 |
| 22:31099883:T:C | F864L | 1.000 |
| 22:31099884:T:C | F864S | 1.000 |
| 22:31099885:C:A | F864L | 1.000 |
| 22:31099885:C:G | F864L | 1.000 |
| 22:31099130:T:A | I801N | 0.999 |
| 22:31099134:G:C | K802N | 0.999 |
| 22:31099134:G:T | K802N | 0.999 |
| 22:31099142:T:A | L805Q | 0.999 |
| 22:31099151:G:C | W808S | 0.999 |
| 22:31099153:T:C | C809R | 0.999 |
| 22:31099154:G:A | C809Y | 0.999 |
| 22:31099157:G:C | R810P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000082660 (22:31094992 T>C), RS1000222471 (22:31086264 T>C), RS1000376412 (22:31066661 G>A), RS1000382273 (22:31092104 T>C), RS1000443748 (22:31086051 C>T), RS1000572900 (22:31072795 T>C), RS1000604607 (22:31097974 C>A), RS1000664775 (22:31078740 G>A,C), RS1000781986 (22:31078509 G>A), RS1000878417 (22:31084582 G>C), RS1000942217 (22:31104743 A>C,G), RS1000946316 (22:31090909 C>T), RS1000977145 (22:31090671 G>T), RS1001039381 (22:31081525 C>G), RS1001121233 (22:31077653 A>C)
Disease associations
OMIM: gene MIM:602127 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001958_23 | Bulimia nervosa | 2.000000e-06 |
| GCST010135_20 | Oily fish consumption | 3.000000e-10 |
| GCST010135_5 | Oily fish consumption | 1.000000e-15 |
| GCST010140_12 | Pork consumption | 3.000000e-10 |
| GCST010140_49 | Pork consumption | 1.000000e-15 |
| GCST010142_11 | Fish- and plant-related diet | 1.000000e-11 |
| GCST012226_842 | Waist circumference adjusted for body mass index | 1.000000e-08 |
| GCST012231_19 | A body shape index | 2.000000e-10 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008111 | diet measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
62 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects binding, increases reaction, affects cotreatment, increases abundance, increases expression (+1 more) | 7 |
| Benzo(a)pyrene | increases expression, affects methylation, decreases expression | 3 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, increases expression | 2 |
| Arsenic | affects cotreatment, increases abundance, increases expression, decreases expression | 2 |
| Quercetin | increases expression, decreases phosphorylation | 2 |
| Silicon Dioxide | increases expression | 2 |
| Smoke | decreases expression, increases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| Aflatoxin B1 | affects expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| bufotalin | increases expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| bisphenol A | decreases expression | 1 |
| lead acetate | increases expression | 1 |
| methylparaben | increases expression | 1 |
| trimellitic anhydride | increases expression | 1 |
| afimoxifene | decreases expression, decreases reaction | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| cupric chloride | increases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| methacrylaldehyde | increases abundance, affects cotreatment, increases oxidation | 1 |
| avobenzone | increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| abrine | increases expression | 1 |
| eprenetapopt | affects expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TP72 | HAP1 SMTN (-) 1 | Cancer cell line | Male |
| CVCL_XT56 | HAP1 SMTN (-) 2 | Cancer cell line | Male |
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): bulimia nervosa