SMG8

gene
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Also known as FLJ10587FLJ23205

Summary

SMG8 (SMG8 nonsense mediated mRNA decay factor, HGNC:25551) is a protein-coding gene on chromosome 17q22, encoding Nonsense-mediated mRNA decay factor SMG8 (Q8ND04). Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. It is a selective cancer dependency (DepMap: 20.0% of cell lines).

Involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay and regulation of protein kinase activity. Predicted to be located in cytosol.

Source: NCBI Gene 55181 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): Alzahrani-Kuwahara syndrome (Definitive, ClinGen)
  • GWAS associations: 1
  • Clinical variants (ClinVar): 164 total — 8 pathogenic, 4 likely-pathogenic
  • Phenotypes (HPO): 36
  • Cancer dependency (DepMap): dependent in 20.0% of screened cell lines
  • MANE Select transcript: NM_018149

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:25551
Approved symbolSMG8
NameSMG8 nonsense mediated mRNA decay factor
Location17q22
Locus typegene with protein product
StatusApproved
AliasesFLJ10587, FLJ23205
Ensembl geneENSG00000167447
Ensembl biotypeprotein_coding
OMIM613175
Entrez55181

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000300917, ENST00000543872, ENST00000578922, ENST00000580498, ENST00000580798, ENST00000582469, ENST00000909752, ENST00000913252, ENST00000913253

RefSeq mRNA: 1 — MANE Select: NM_018149 NM_018149

CCDS: CCDS11615

Canonical transcript exons

ENST00000300917 — 4 exons

ExonStartEnd
ENSE000011130635921272959213601
ENSE000011130655921480559215230
ENSE000014207115921003559211810
ENSE000035939435921234159212486

Expression profiles

Bgee: expression breadth ubiquitous, 272 present calls, max score 91.97.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.8002 / max 103.9820, expressed in 1807 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
16194915.80021807

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
secondary oocyteCL:000065591.97gold quality
oocyteCL:000002389.88gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047386.00gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099185.94gold quality
islet of LangerhansUBERON:000000683.81gold quality
ventricular zoneUBERON:000305383.80gold quality
stromal cell of endometriumCL:000225583.20gold quality
cortical plateUBERON:000534382.32gold quality
ganglionic eminenceUBERON:000402382.08gold quality
esophagus squamous epitheliumUBERON:000692081.79gold quality
granulocyteCL:000009481.72gold quality
pancreatic ductal cellCL:000207981.66silver quality
placentaUBERON:000198781.57gold quality
epithelium of esophagusUBERON:000197680.98gold quality
embryoUBERON:000092280.53gold quality
germinal epithelium of ovaryUBERON:000130480.24gold quality
leukocyteCL:000073879.98gold quality
calcaneal tendonUBERON:000370179.94gold quality
right adrenal gland cortexUBERON:003582779.87gold quality
right adrenal glandUBERON:000123379.78gold quality
parietal pleuraUBERON:000240079.73gold quality
monocyteCL:000057679.66gold quality
biceps brachiiUBERON:000150779.58gold quality
mononuclear cellCL:000084279.56gold quality
adrenal tissueUBERON:001830379.51gold quality
upper leg skinUBERON:000426279.27gold quality
skeletal muscle tissue of biceps brachiiUBERON:000450279.19gold quality
skin of hipUBERON:000155479.13gold quality
bone marrowUBERON:000237179.07gold quality
left adrenal glandUBERON:000123478.66gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no3.70

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

13 targeting SMG8, 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-450A-1-3P100.0069.331837
HSA-MIR-426799.9666.532368
HSA-MIR-338-5P99.9272.342951
HSA-MIR-129799.9173.413162
HSA-MIR-627-3P99.9071.423316
HSA-MIR-95-5P99.8972.173973
HSA-MIR-4668-5P99.7970.583782
HSA-MIR-5004-3P99.5468.271371
HSA-MIR-7159-5P99.5372.122472
HSA-MIR-4716-5P98.8268.571168
HSA-MIR-477398.3567.301710
HSA-MIR-4691-3P98.1166.831204
HSA-MIR-203B-3P97.8266.27979

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 20.0% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 7)

  • large-scale conformational changes induced by SMG-8 after SMG-9-mediated recruitment tune SMG-1 kinase activity to modulate nonsense-mediated mRNA decay (PMID:21245168)
  • knockdown of SMG-8 produced the best effect for restoring defective mRNA and protein levels without affecting cell growth, cell-cycle progression, or endoplasmic reticulum stress in Ullrich congenital muscular dystrophy fibroblasts (PMID:23983263)
  • Cryo-EM structure of SMG1-SMG8-SMG9 complex. (PMID:31729466)
  • This study reports the 3.45-A resolution cryo-EM structure of human SMG1-SMG8-SMG9, a phosphatidylinositol-3-kinase (PI(3)K)-related protein kinase (PIKK) complex central to messenger RNA surveillance. (PMID:31792449)
  • Structure of substrate-bound SMG1-8-9 kinase complex reveals molecular basis for phosphorylation specificity. (PMID:32469312)
  • Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans. (PMID:33242396)
  • Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait. (PMID:34761517)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_reriosmg8ENSDARG00000061378
mus_musculusSmg8ENSMUSG00000020495
rattus_norvegicusSmg8ENSRNOG00000005769
drosophila_melanogasterCG6729FBGN0032296
caenorhabditis_elegansWBGENE00010551

Protein

Protein identifiers

Nonsense-mediated mRNA decay factor SMG8Q8ND04 (reviewed: Q8ND04)

Alternative names: Amplified in breast cancer gene 2 protein, Protein smg-8 homolog

All UniProt accessions (3): Q8ND04, J3KTD7, J3QKP6

UniProt curated annotations — full annotation on UniProt →

Function. Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Is recruited by release factors to stalled ribosomes together with SMG1 and SMG9 (forming the SMG1C protein kinase complex) and, in the SMG1C complex, is required to mediate the recruitment of SMG1 to the ribosome:SURF complex and to suppress SMG1 kinase activity until the ribosome:SURF complex locates the exon junction complex (EJC). Acts as a regulator of kinase activity.

Subunit / interactions. Component of the SMG1C complex composed of SMG1, SMG8 and SMG9; the recruitment of SMG8 to SMG1 N-terminus induces a large conformational change in the SMG1 C-terminal head domain containing the catalytic domain. Forms heterodimers with SMG9; this assembly form may represent a SMG1C intermediate form.

Post-translational modifications. Phosphorylated by SMG1.

Disease relevance. Alzahrani-Kuwahara syndrome (ALKUS) [MIM:619268] An autosomal recessive disorder characterized by severe global developmental delay, impaired intellectual function, poor or absent speech, microcephaly, and facial dysmorphism. Additional variable features include early-onset cataracts, hypotonia, lower limb spasticity, and congenital heart malformations. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the SMG8 family.

Isoforms (3)

UniProt IDNamesCanonical?
Q8ND04-11yes
Q8ND04-22, ABC2
Q8ND04-33

RefSeq proteins (1): NP_060619* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR019354SMG8-likeFamily

Pfam: PF10220

UniProt features (96 total): strand 39, helix 23, sequence conflict 8, modified residue 6, compositionally biased region 5, region of interest 4, turn 4, splice variant 3, sequence variant 3, chain 1

Structure

Experimental structures (PDB)

6 structures.

PDBMethodResolution (Å)
7PW8ELECTRON MICROSCOPY2.82
6Z3RELECTRON MICROSCOPY2.97
7PW4ELECTRON MICROSCOPY3.27
7PW5ELECTRON MICROSCOPY3.4
6L54ELECTRON MICROSCOPY3.43
6SYTELECTRON MICROSCOPY3.45

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8ND04-F175.290.45

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 (6): 115, 469, 668, 742, 895, 898

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

IDPathway
R-HSA-975957Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
R-HSA-8953854Metabolism of RNA
R-HSA-927802Nonsense-Mediated Decay (NMD)

MSigDB gene sets: 232 (showing top): GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_TRANSFERASE_ACTIVITY, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_NUCLEAR_TRANSCRIBED_MRNA_CATABOLIC_PROCESS_NONSENSE_MEDIATED_DECAY, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, chr17q22, GOBP_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS, REACTOME_METABOLISM_OF_RNA, GOCC_TRANSFERASE_COMPLEX_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS, GOCC_TRANSFERASE_COMPLEX, GOCC_PROTEIN_KINASE_COMPLEX, GOBP_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS, BOYAULT_LIVER_CANCER_SUBCLASS_G3_UP

GO Biological Process (2): nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184), regulation of protein kinase activity (GO:0045859)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (1): cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-2 pathways:

CategoryPathways
Nonsense-Mediated Decay (NMD)1
Metabolism of RNA1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
nuclear-transcribed mRNA catabolic process1
regulation of protein phosphorylation1
protein kinase activity1
regulation of kinase activity1
binding1
cytoplasm1
cellular anatomical structure1

Protein interactions and networks

STRING

838 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
SMG8SMG9Q9H0W8999
SMG8SMG1Q96Q15999
SMG8UPF1Q92900991
SMG8UPF2Q9HAU5982
SMG8ETF1P46055973
SMG8UPF3AQ9H1J1945
SMG8SMG5Q9UPR3903
SMG8GSPT1P15170877
SMG8SMG6Q86US8876
SMG8DHX34Q14147841
SMG8UPF3BQ9BZI7838
SMG8SMG7Q92540837
SMG8PNRC2Q9NPJ4695
SMG8PRKCIP41743666
SMG8EIF4A3P38919640

IntAct

98 interactions, top by confidence:

ABTypeScore
RBM8AEIF4A3psi-mi:“MI:0914”(association)0.950
SPC24NDC80psi-mi:“MI:0914”(association)0.920
RFXANKRFXAPpsi-mi:“MI:0914”(association)0.780
SMG9SMG8psi-mi:“MI:0914”(association)0.710
SMG8SMG9psi-mi:“MI:0915”(physical association)0.710
SMG1SMG8psi-mi:“MI:0914”(association)0.690
DNAJC7PLD2psi-mi:“MI:0914”(association)0.640
NICN1TTLL1psi-mi:“MI:0914”(association)0.640
SMG1TTI1psi-mi:“MI:0914”(association)0.600
RBM8ARPS16psi-mi:“MI:0914”(association)0.530
TKTPOTEFpsi-mi:“MI:0914”(association)0.530
SLC31A1C2orf72psi-mi:“MI:0914”(association)0.530
DLK1TCAF2psi-mi:“MI:0914”(association)0.530
CAPN2MYO9Apsi-mi:“MI:0914”(association)0.530
EPHA1EXOC5psi-mi:“MI:0914”(association)0.530
BAG2HGSpsi-mi:“MI:0914”(association)0.530
IARS2GAKpsi-mi:“MI:0914”(association)0.530
SDF4GTPBP6psi-mi:“MI:0914”(association)0.530
AZIN2OAZ2psi-mi:“MI:0914”(association)0.530
ANKRD22ESYT2psi-mi:“MI:0914”(association)0.530
ILVBLSLC33A1psi-mi:“MI:0914”(association)0.530
ZNRD2CCDC85Cpsi-mi:“MI:0914”(association)0.530

BioGRID (144): SMG8 (Affinity Capture-MS), SMG8 (Affinity Capture-MS), SMG8 (Affinity Capture-MS), SMG8 (Affinity Capture-MS), SMG8 (Affinity Capture-MS), SMG8 (Affinity Capture-MS), SMG8 (Affinity Capture-MS), SMG8 (Affinity Capture-MS), SMG8 (Affinity Capture-MS), LRRC49 (Affinity Capture-MS), SMG8 (Affinity Capture-MS), SMG8 (Affinity Capture-MS), HSP90AA4P (Affinity Capture-MS), SMG8 (Affinity Capture-MS), SMG8 (Affinity Capture-MS)

ESM2 similar proteins: A0A571BF63, A0A8M9QN10, A1A4J7, A2AIV2, A2BID5, A2RRP1, A4D1P6, B0W730, B2RYI0, B3MJV4, B4GH42, B4MV81, B4Q9T2, B5E0H4, D4A039, O00750, O75153, P69735, Q0KK59, Q0VA04, Q0VDN7, Q17G65, Q1LXR6, Q2HJE1, Q3UHQ6, Q58D79, Q5JWR5, Q5PQS3, Q5R6T6, Q5SW19, Q5TYW4, Q5ZIB8, Q69YN4, Q6NUV0, Q6P4K6, Q6ZUJ8, Q7TMQ7, Q7Z3E5, Q80UJ7, Q8BL99

Diamond homologs: A1A4J7, Q0VA04, Q8ND04, Q8VE18

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 135 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.

GO biological processes:

GO termPartnersFoldFDR
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay519.7×4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

164 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic8
Likely pathogenic4
Uncertain significance124
Likely benign18
Benign3

Top pathogenic / likely-pathogenic (12)

Variant IDHGVSClassification
1064666NM_018149.7(SMG8):c.441dup (p.Val148fs)Pathogenic
1064667NM_018149.7(SMG8):c.2515C>T (p.Arg839Ter)Pathogenic
1064668NM_018149.7(SMG8):c.623A>G (p.His208Arg)Pathogenic
2637611NM_018149.7(SMG8):c.1667dup (p.Tyr556Ter)Pathogenic
2647977NM_018149.7(SMG8):c.1541dup (p.Asn514fs)Pathogenic
2920699NM_018149.7(SMG8):c.2435T>G (p.Leu812Ter)Pathogenic
2920707NM_018149.7(SMG8):c.971dup (p.Asn324fs)Pathogenic
4831315NM_018149.7(SMG8):c.1159C>T (p.Arg387Ter)Pathogenic
2503804NM_018149.7(SMG8):c.1534del (p.Gln512fs)Likely pathogenic
3382840NM_018149.7(SMG8):c.619_622del (p.Cys207fs)Likely pathogenic
3382841NM_018149.7(SMG8):c.615dup (p.Val206fs)Likely pathogenic
3906855NM_018149.7(SMG8):c.1225_1226del (p.Thr409fs)Likely pathogenic

SpliceAI

782 predictions. Top by Δscore:

VariantEffectΔscore
17:59212336:TCCA:Tacceptor_loss1.0000
17:59212338:CAG:Cacceptor_loss1.0000
17:59212339:A:ACacceptor_loss1.0000
17:59212339:A:AGacceptor_gain1.0000
17:59212339:AG:Aacceptor_gain1.0000
17:59212340:G:GCacceptor_gain1.0000
17:59212340:G:GGacceptor_gain1.0000
17:59212340:GG:Gacceptor_gain1.0000
17:59212340:GGA:Gacceptor_gain1.0000
17:59212340:GGAGA:Gacceptor_gain1.0000
17:59212482:ATCAG:Adonor_loss1.0000
17:59212483:TCAG:Tdonor_loss1.0000
17:59212483:TCAGG:Tdonor_loss1.0000
17:59212484:CAG:Cdonor_loss1.0000
17:59212484:CAGG:Cdonor_loss1.0000
17:59212485:AGG:Adonor_loss1.0000
17:59212485:AGGT:Adonor_loss1.0000
17:59212486:GGTAG:Gdonor_loss1.0000
17:59212487:G:Cdonor_loss1.0000
17:59212488:T:Adonor_loss1.0000
17:59212726:T:Gacceptor_gain1.0000
17:59212727:A:AGacceptor_gain1.0000
17:59212728:G:GGacceptor_gain1.0000
17:59212728:GC:Gacceptor_gain1.0000
17:59212728:GCTT:Gacceptor_gain1.0000
17:59213422:G:GGdonor_gain1.0000
17:59213428:A:Tdonor_gain1.0000
17:59212337:CCAGG:Cacceptor_gain0.9900
17:59212338:CAGG:Cacceptor_gain0.9900
17:59212338:CAGGA:Cacceptor_gain0.9900

AlphaMissense

6470 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
17:59210670:T:CC207R1.000
17:59210671:G:AC207Y1.000
17:59210672:T:GC207W1.000
17:59210752:G:CR234T1.000
17:59210811:T:AW254R1.000
17:59210811:T:CW254R1.000
17:59210834:C:GC261W1.000
17:59210839:C:AP263H1.000
17:59210839:C:GP263R1.000
17:59210841:A:GR264G1.000
17:59210842:G:CR264T1.000
17:59210843:A:CR264S1.000
17:59210843:A:TR264S1.000
17:59210845:T:CL265P1.000
17:59210955:C:GH302D1.000
17:59210958:G:CA303P1.000
17:59210962:T:CL304P1.000
17:59210965:A:TE305V1.000
17:59210966:G:CE305D1.000
17:59210966:G:TE305D1.000
17:59210967:G:CD306H1.000
17:59210968:A:CD306A1.000
17:59210968:A:GD306G1.000
17:59210968:A:TD306V1.000
17:59210969:C:AD306E1.000
17:59210969:C:GD306E1.000
17:59210971:A:CQ307P1.000
17:59210976:T:CY309H1.000
17:59210976:T:GY309D1.000
17:59210989:G:CR313P1.000

dbSNP variants (sampled 300 via entrez): RS1000682269 (17:59210918 C>A,G), RS1002486480 (17:59208899 T>C), RS1002758661 (17:59209176 G>T), RS1002826048 (17:59208656 A>G), RS1002855436 (17:59208428 C>T), RS1003192091 (17:59209927 G>A), RS1003214605 (17:59214020 C>T), RS1003394104 (17:59215488 C>A), RS1003859283 (17:59209805 C>G), RS1004085465 (17:59213975 A>C), RS1004887918 (17:59212181 C>T), RS1005976253 (17:59208395 A>C,G), RS1006731426 (17:59212853 ATAAACT>A), RS1007058341 (17:59209002 C>T), RS1007260649 (17:59214243 C>T)

Disease associations

OMIM: gene MIM:613175 | disease phenotypes: MIM:619268

GenCC curated gene-disease

DiseaseClassificationInheritance
Alzahrani-Kuwahara syndromeDefinitiveAutosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

DiseaseClassificationInheritance
Alzahrani-Kuwahara syndromeDefinitiveAR

Mondo (1): Alzahrani-Kuwahara syndrome (MONDO:0859136)

Orphanet (0):

HPO phenotypes

36 total (30 of 36 shown, HPO-id order):

HPOTerm
HP:0000007Autosomal recessive inheritance
HP:0000047Hypospadias
HP:0000252Microcephaly
HP:0000319Smooth philtrum
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0000365Hearing impairment
HP:0000369Low-set ears
HP:0000400Macrotia
HP:0000414Bulbous nose
HP:0000448Prominent nose
HP:0000483Astigmatism
HP:0000486Strabismus
HP:0000518Cataract
HP:0000543Optic disc pallor
HP:0000668Hypodontia
HP:0000742Self-mutilation
HP:0000953Hyperpigmentation of the skin
HP:0000958Dry skin
HP:0000964Eczematoid dermatitis
HP:0001263Global developmental delay
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001655Patent foramen ovale
HP:0002007Frontal bossing
HP:0002389Cavum septum pellucidum
HP:0002500Abnormal cerebral white matter morphology
HP:0004322Short stature
HP:0004961Pulmonary artery sling

GWAS associations

1 associations (top):

StudyTraitp-value
GCST001980_1Circulating myeloperoxidase levels (plasma)3.000000e-12

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0005243myeloperoxidase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneincreases expression, increases methylation3
Air Pollutantsincreases expression, affects expression, increases abundance2
Smokedecreases expression, increases abundance, increases expression2
Tobacco Smoke Pollutionincreases expression2
Valproic Acidaffects expression, decreases expression2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamidedecreases expression1
triphenyl phosphateaffects expression1
salinomycindecreases expression1
sodium arsenitedecreases expression1
di-n-butylphosphoric acidaffects expression1
Cadmiumincreases expression, increases abundance1
Caffeinedecreases phosphorylation1
Cisplatinincreases expression1
Ozoneaffects expression, increases abundance1
Tetrachlorodibenzodioxinaffects expression1
Dronabinoldecreases expression1
Thiramdecreases expression1
Aflatoxin B1increases expression1
Cadmium Chlorideincreases abundance, increases expression1
Acrylamideincreases expression1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

CellosaurusNameCategorySex
CVCL_E2KBHAP1 SMG8 (-)Cancer cell lineMale

Clinical trials (associated diseases)

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