SMTN

gene
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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

FieldValue
HGNC IDHGNC:11126
Approved symbolSMTN
Namesmoothelin
Location22q12.2
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000183963
Ensembl biotypeprotein_coding
OMIM602127
Entrez6525

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

ExonStartEnd
ENSE000016752093108851331088606
ENSE000034950283108796531088113
ENSE000034951563110431631104624
ENSE000035422633109906231099179
ENSE000036247553108317931083309
ENSE000039979363109699831097060
ENSE000039979373109726931097338
ENSE000039979383109530331095455
ENSE000039979393109167531091847
ENSE000039979403110088531101049
ENSE000039979423108131831081456
ENSE000039979433109096131091482
ENSE000039979443109010831090180
ENSE000039979453108869931088777
ENSE000039979483109673331096897
ENSE000039979493109866731098840
ENSE000039979503108887231088969
ENSE000039979513109974531099896
ENSE000039979523109080831090879
ENSE000039979533109553431095609
ENSE000039979543108969931090019

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 IDTPM avgSamples expressed
19173624.13211661
1917422.928851
1917351.1033225
1917510.748299
1917450.3665188
1917390.176270
1917500.113032
1917430.096330
1917370.093033
1917490.060332

Top tissues by expression

280 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
lower esophagus muscularis layerUBERON:003583399.74gold quality
lower esophagusUBERON:001347399.73gold quality
esophagogastric junction muscularis propriaUBERON:003584199.65gold quality
mucosa of stomachUBERON:000119999.62gold quality
popliteal arteryUBERON:000225099.56gold quality
tibial arteryUBERON:000761099.56gold quality
muscle layer of sigmoid colonUBERON:003580599.56gold quality
aortaUBERON:000094799.39gold quality
body of uterusUBERON:000985399.39gold quality
apex of heartUBERON:000209899.26gold quality
left uterine tubeUBERON:000130399.25gold quality
descending thoracic aortaUBERON:000234599.25gold quality
ascending aortaUBERON:000149699.22gold quality
thoracic aortaUBERON:000151599.22gold quality
right coronary arteryUBERON:000162599.21gold quality
lower esophagus mucosaUBERON:003583499.17gold quality
sural nerveUBERON:001548898.91gold quality
left coronary arteryUBERON:000162698.83gold quality
tibial nerveUBERON:000132398.82gold quality
coronary arteryUBERON:000162198.50gold quality
right atrium auricular regionUBERON:000663198.35gold quality
endocervixUBERON:000045898.12gold quality
myometriumUBERON:000129698.05gold quality
saphenous veinUBERON:000731898.03gold quality
colonic epitheliumUBERON:000039797.94gold quality
fundus of stomachUBERON:000116097.61gold quality
heart left ventricleUBERON:000208497.60gold quality
hindlimb stylopod muscleUBERON:000425297.40gold quality
cardiac ventricleUBERON:000208297.39gold quality
cardiac atriumUBERON:000208197.37gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 8.

ExperimentMarker?Max mean expression
E-MTAB-10287yes62.52
E-MTAB-6678yes26.89
E-MTAB-7316yes24.68
E-MTAB-8410yes22.82
E-CURD-112yes11.01
E-HCAD-11yes9.69
E-ANND-3yes8.52
E-MTAB-9067yes7.71

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):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-548AA99.9670.643753
HSA-MIR-548AP-3P99.9670.643753
HSA-MIR-548T-3P99.9670.643753
HSA-MIR-444799.8567.812900
HSA-MIR-132399.8369.892471
HSA-MIR-548O-3P99.7469.302228
HSA-MIR-447299.5666.081478
HSA-MIR-374A-3P98.8767.821531
HSA-MIR-6887-5P98.5668.491295
HSA-MIR-6795-5P98.5268.511277
HSA-MIR-299-3P97.7366.67773
HSA-MIR-1237-5P95.3862.21451
HSA-MIR-448895.3862.00443
HSA-MIR-4697-5P95.3861.72457

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

OrganismSymbolGene ID
mus_musculusSmtnENSMUSG00000020439
rattus_norvegicusSmtnENSRNOG00000019451

Protein

Protein identifiers

SmoothelinP53814 (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 IDNamesCanonical?
P53814-1B, Long, B1, L1yes
P53814-2A, Short
P53814-5B2, L2
P53814-6B3

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)

IDNameType
IPR001715CH_domDomain
IPR022189SMTNDomain
IPR036872CH_dom_sfHomologous_superfamily
IPR050540F-actin_Monoox_MicalFamily

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.

PDBMethodResolution (Å)
2D87SOLUTION NMR

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P53814-F160.380.19

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:

CategoryTerms
muscle contraction1
animal organ development1
muscle structure development1
cytoskeletal protein binding1
structural molecule activity1
binding1
intracellular membraneless organelle1
cytoskeleton1
intracellular anatomical structure1
cellular anatomical structure1

Protein interactions and networks

STRING

918 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
SMTNMYH11P35749780
SMTNHIRAP54198763
SMTNTAGLNQ01995763
SMTNCNN1P51911759
SMTNMYOCDQ8IZQ8682
SMTNCALD1Q05682620
SMTNFLNAP21333591
SMTNACTA2P03996576
SMTNELNP15502559
SMTNTAGLN3Q9UI15544
SMTNTAGLN2P37802518
SMTNFLNCQ14315507
SMTNPPP1R12AO14974507
SMTNFLNBO75369503
SMTNDMDP11532498

IntAct

68 interactions, top by confidence:

ABTypeScore
CFTRESYT2psi-mi:“MI:0914”(association)0.710
HRASRGL2psi-mi:“MI:0914”(association)0.660
PIPTBKBP1psi-mi:“MI:0914”(association)0.530
CFTRPLEKHG3psi-mi:“MI:0914”(association)0.480
repACTN4psi-mi:“MI:0914”(association)0.480
SMTNNCLpsi-mi:“MI:0915”(physical association)0.400
BRMS1SMTNpsi-mi:“MI:0915”(physical association)0.370
ALG3SMTNpsi-mi:“MI:0915”(physical association)0.370
RIPK4VWA8psi-mi:“MI:0914”(association)0.350
PB1HAX1psi-mi:“MI:0914”(association)0.350
PB1IPO5psi-mi:“MI:0914”(association)0.350
PB1ESYT2psi-mi:“MI:0914”(association)0.350
PB2HAX1psi-mi:“MI:0914”(association)0.350
PB2ESYT2psi-mi:“MI:0914”(association)0.350
PB2SEC16Apsi-mi:“MI:0914”(association)0.350
NS1HAX1psi-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):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance184
Likely benign11
Benign4

Top pathogenic / likely-pathogenic (0)

SpliceAI

3599 predictions. Top by Δscore:

VariantEffectΔscore
22:31083306:GCTG:Gdonor_gain1.0000
22:31083307:CTGG:Cdonor_loss1.0000
22:31083308:TGG:Tdonor_loss1.0000
22:31083309:GGTAA:Gdonor_loss1.0000
22:31083310:G:GGdonor_gain1.0000
22:31083310:G:Tdonor_loss1.0000
22:31083311:T:Adonor_loss1.0000
22:31087960:T:Aacceptor_gain1.0000
22:31087960:TGCA:Tacceptor_loss1.0000
22:31087961:GCAG:Gacceptor_loss1.0000
22:31087962:CA:Cacceptor_loss1.0000
22:31087963:A:AGacceptor_gain1.0000
22:31087963:A:Gacceptor_loss1.0000
22:31087963:AGCT:Aacceptor_gain1.0000
22:31087963:AGCTG:Aacceptor_gain1.0000
22:31087964:G:GAacceptor_gain1.0000
22:31087964:GC:Gacceptor_gain1.0000
22:31087964:GCT:Gacceptor_gain1.0000
22:31087964:GCTG:Gacceptor_gain1.0000
22:31087964:GCTGG:Gacceptor_gain1.0000
22:31088109:CTGCA:Cdonor_gain1.0000
22:31088110:TGCA:Tdonor_gain1.0000
22:31088111:GCA:Gdonor_gain1.0000
22:31088111:GCAG:Gdonor_gain1.0000
22:31088112:CA:Cdonor_gain1.0000
22:31088114:G:GGdonor_gain1.0000
22:31088114:G:Tdonor_loss1.0000
22:31088116:G:GCdonor_loss1.0000
22:31088117:A:ACdonor_loss1.0000
22:31088118:G:Cdonor_loss1.0000

AlphaMissense

5865 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
22:31099142:T:CL805P1.000
22:31099145:T:CL806P1.000
22:31099150:T:AW808R1.000
22:31099150:T:CW808R1.000
22:31099152:G:CW808C1.000
22:31099152:G:TW808C1.000
22:31099155:T:GC809W1.000
22:31099749:T:AV819D1.000
22:31099764:T:CF824S1.000
22:31099775:T:AW828R1.000
22:31099775:T:CW828R1.000
22:31099777:G:CW828C1.000
22:31099777:G:TW828C1.000
22:31099784:G:TG831W1.000
22:31099785:G:AG831E1.000
22:31099785:G:TG831V1.000
22:31099794:T:CF834S1.000
22:31099803:T:CL837P1.000
22:31099883:T:CF864L1.000
22:31099884:T:CF864S1.000
22:31099885:C:AF864L1.000
22:31099885:C:GF864L1.000
22:31099130:T:AI801N0.999
22:31099134:G:CK802N0.999
22:31099134:G:TK802N0.999
22:31099142:T:AL805Q0.999
22:31099151:G:CW808S0.999
22:31099153:T:CC809R0.999
22:31099154:G:AC809Y0.999
22:31099157:G:CR810P0.999

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):

StudyTraitp-value
GCST001958_23Bulimia nervosa2.000000e-06
GCST010135_20Oily fish consumption3.000000e-10
GCST010135_5Oily fish consumption1.000000e-15
GCST010140_12Pork consumption3.000000e-10
GCST010140_49Pork consumption1.000000e-15
GCST010142_11Fish- and plant-related diet1.000000e-11
GCST012226_842Waist circumference adjusted for body mass index1.000000e-08
GCST012231_19A body shape index2.000000e-10

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0008111diet measurement
EFO:0007789BMI-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.

ChemicalActions (top 5)PubMed papers
sodium arseniteaffects binding, increases reaction, affects cotreatment, increases abundance, increases expression (+1 more)7
Benzo(a)pyreneincreases expression, affects methylation, decreases expression3
Air Pollutantsaffects cotreatment, increases abundance, increases oxidation, increases expression2
Arsenicaffects cotreatment, increases abundance, increases expression, decreases expression2
Quercetinincreases expression, decreases phosphorylation2
Silicon Dioxideincreases expression2
Smokedecreases expression, increases expression2
Cyclosporinedecreases expression, increases expression2
Aflatoxin B1affects expression, increases expression2
aristolochic acid Iincreases expression1
FR900359decreases phosphorylation1
TAK-243increases sumoylation1
dicrotophosincreases expression1
bufotalinincreases expression1
alpha-pineneaffects cotreatment, increases oxidation, increases abundance1
bisphenol Adecreases expression1
lead acetateincreases expression1
methylparabenincreases expression1
trimellitic anhydrideincreases expression1
afimoxifenedecreases expression, decreases reaction1
manganese chlorideincreases abundance, increases expression, affects cotreatment1
cupric chlorideincreases expression1
coumarinincreases phosphorylation1
methacrylaldehydeincreases abundance, affects cotreatment, increases oxidation1
avobenzoneincreases expression1
perfluorooctane sulfonic aciddecreases expression1
abrineincreases expression1
eprenetapoptaffects expression1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic aciddecreases expression1
Resveratrolaffects cotreatment, decreases expression1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_TP72HAP1 SMTN (-) 1Cancer cell lineMale
CVCL_XT56HAP1 SMTN (-) 2Cancer cell lineMale

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): bulimia nervosa