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9 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SMTNL2
smoothelin like 2
Chromosome 17 · 17p13.2
NCBI Gene: 342527Ensembl: ENSG00000188176.13HGNC: HGNC:24764UniProt: Q2TAL5
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
actin cytoskeleton organizationneurodegenerative diseasepreeclampsiaDNA methylationrheumatoid arthritis
✦AI Summary

SMTNL2 (smoothelin-like 2) is an actin-binding protein that regulates cytoskeletal dynamics during epithelial development and differentiation. Structurally, SMTNL2 contains an N-terminal coiled-coil region and a C-terminal calponin homology domain characteristic of the smoothelin protein family 1. In epithelial tissues, SMTNL2 localizes to the apical and junctional actin cortex, where it stabilizes the dense apical actin cytoskeleton by inhibiting coronin-1B-mediated actin turnover 2. This stabilization is essential for proper epithelial morphogenesis; SMTNL2 deficiency results in membrane herniations and cortical abnormalities 2. SMTNL2 functions as a JNK substrate with a conserved docking site (residues 180-193) that enables high-affinity binding to JNK1-3 and phosphorylation at multiple sites 3. The protein is highly expressed in skeletal muscle and induced during myocyte differentiation 3. Clinically, SMTNL2 methylation patterns in urine sediment serve as a biomarker for renal proximal tubular cell injury in diabetic kidney disease, correlating with declining glomerular filtration rate 4. Additionally, SMTNL2 has been identified as part of a glutamine metabolism-related prognostic signature in clear cell renal cell carcinoma 5, and genetic variants near SMTNL2 associate with rheumatoid arthritis susceptibility in Arab populations 6.

Sources cited
1
SMTNL2 localizes to apical/junctional actin cortex, stabilizes apical actin through coronin-1B inhibition, and is required for proper epithelial morphogenesis
PMID: 33275893
2
SMTNL2 is a member of the smoothelin protein family characterized by C-terminal calponin homology domain; poorly characterized but expressed highly in skeletal muscle
PMID: 29310803
3
SMTNL2 DNA methylation in urine is a marker of renal proximal tubular cell injury and correlates with kidney function decline in diabetes
PMID: 32883689
4
SMTNL2 is a JNK substrate with conserved docking site (residues 180-193) enabling MAPK binding and phosphorylation; highly expressed in skeletal muscle and induced during myocyte differentiation
PMID: 23981301
5
SMTNL2/GGT6 locus at 17p13 associates with rheumatoid arthritis susceptibility in Arab populations
PMID: 28118524
6
SMTNL2 is identified as part of a glutamine metabolism-related prognostic signature in clear cell renal cell carcinoma
PMID: 38970690
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.30Weak
preeclampsiaOpen Targets
0.25Weak
DNA methylationOpen Targets
0.19Weak
rheumatoid arthritisOpen Targets
0.18Weak
exostosisOpen Targets
0.18Weak
HypercholesterolemiaOpen Targets
0.18Weak
Nasal polyposisOpen Targets
0.03Suggestive
hemolytic anemiaOpen Targets
0.02Suggestive
heart failureOpen Targets
0.02Suggestive
Abnormal thrombosisOpen Targets
0.02Suggestive
allergic diseaseOpen Targets
0.02Suggestive
Abruptio PlacentaeOpen Targets
0.02Suggestive
diabetes mellitusOpen Targets
0.02Suggestive
respiratory system diseaseOpen Targets
0.02Suggestive
Nasal Cavity PolypOpen Targets
0.02Suggestive
rhinitisOpen Targets
0.02Suggestive
colorectal adenocarcinomaOpen Targets
0.02Suggestive
Tetralogy of FallotOpen Targets
0.02Suggestive
clear cell renal carcinomaOpen Targets
0.01Suggestive
chromophobe renal cell carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FLNBShared pathway100%SPTAN1Shared pathway100%ACAP1Shared pathway100%PHACTR2Shared pathway100%THSD7BShared pathway100%SPECC1Shared pathway100%
Tissue Expression6 tissues
Ovary
100%
Heart
86%
Lung
80%
Brain
27%
Liver
2%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SMTNL2FLNBSPTAN1ACAP1PHACTR2THSD7BSPECC1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q2TAL5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.50LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.16 [0.91–1.50]
RankingsWhere SMTNL2 stands among ~20K protein-coding genes
  • #16,002of 20,598
    Most Researched14
  • #15,162of 17,882
    Most Constrained (LOEUF)1.50
Genes detectedSMTNL2
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Smoothelin-like 2 Inhibits Coronin-1B to Stabilize the Apical Actin Cortex during Epithelial Morphogenesis.
PMID: 33275893
Curr Biol · 2021
1.00
2
Smoothelins and the Control of Muscle Contractility.
PMID: 29310803
Adv Pharmacol · 2018
0.89
3
Methylation pattern of urinary DNA as a marker of kidney function decline in diabetes.
PMID: 32883689
BMJ Open Diabetes Res Care · 2020
0.78
4
Neurotensin expression, regulation, and function during the ovulatory period in the mouse ovary†.
PMID: 36345168
Biol Reprod · 2023
0.67
5
A Multinational Arab Genome-Wide Association Study Identifies New Genetic Associations for Rheumatoid Arthritis.
PMID: 28118524
Arthritis Rheumatol · 2017
0.56