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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 dist... See more...
Aliases for SMTN Gene
External Ids for SMTN Gene
- HGNC: 11126
- NCBI Entrez Gene: 6525
- Ensembl: ENSG00000183963
- OMIM®: 602127
- UniProtKB/Swiss-Prot: P53814
Previous GeneCards Identifiers for SMTN Gene
- GC22P028173
- GC22P029801
- GC22P031460
- GC22P014439
- GC22P031065
- GC22P031066
- GC22P031081
Summaries for SMTN Gene
-
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. [provided by RefSeq, May 2011]
GeneCards Summary for SMTN Gene
SMTN (Smoothelin) is a Protein Coding gene. Diseases associated with SMTN include Glomuvenous Malformations and Atrophy Of Prostate. Gene Ontology (GO) annotations related to this gene include actin binding and structural constituent of muscle.
UniProtKB/Swiss-Prot Summary for SMTN Gene
-
Structural protein of the cytoskeleton.
Additional gene information for SMTN Gene
- HGNC (11126)
- NCBI Entrez Gene (6525)
- Ensembl (ENSG00000183963)
- OMIM® (602127)
- UniProtKB/Swiss-Prot (P53814)
- Open Targets Platform(ENSG00000183963)
- Search for SMTN at DataMed
- Search for SMTN at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SMTN Gene
Genomics for SMTN Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SMTN Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SMTN on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SMTN
- Top Transcription factor binding sites by QIAGEN in the SMTN gene promoter:
-
- SRF
- SRF (504 AA)
Genomic Locations for SMTN Gene
Latest Assembly
- chr22:31,064,105-31,104,757
- (GRCh38/hg38)
- Size:
- 40,653 bases
- Orientation:
- Plus strand
Previous Assembly
- chr22:31,460,104-31,500,610
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 40,507 bases
- Orientation:
- Plus strand
- chr22:31,460,091-31,500,743
- (GRCh37/hg19 by Ensembl)
- Size:
- 40,653 bases
- Orientation:
- Plus strand
Genomic View for SMTN Gene
Genes around SMTN on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q12.2 by HGNC
- 22q12.2 by Entrez Gene
- 22q12.2 by Ensembl
SMTN Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SMTN Gene
Proteins for SMTN Gene
-
Protein details for SMTN Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P53814-SMTN_HUMAN
- Recommended name:
- Smoothelin
- Protein Accession:
- P53814
- O00569
- O95769
- O95937
- Q8N4H8
- Q8WWW1
- Q8WWW2
- Q9P1S8
- Q9UIT1
- Q9UIT2
Protein attributes for SMTN Gene
- Size:
- 917 amino acids
- Molecular mass:
- 99059 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=AAL36149.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAL36150.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=CAA73884.2; Type=Frameshift; Evidence={ECO:0000305};
- Miscellaneous:
-
- [Isoform A]: Produced by alternative promoter usage.
Protein Expression for SMTN Gene
Post-translational modifications for SMTN Gene
Other Protein References for SMTN Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_006724361.1
- XP_006724365.1
- XP_011528635.1
- XP_011528638.1
- XP_011528639.1
- XP_011528640.1
- XP_011528641.1
- XP_011528643.1
- XP_016884402.1
- XP_016884403.1
- XP_016884405.1
- XP_016884406.1
- XP_016884407.1
- XP_016884408.1
- NP_001193946.1
- NP_001193947.1
- NP_001369567.1
- NP_001369568.1
- NP_001369569.1
- NP_001369570.1
- NP_001369571.1
- NP_001369572.1
- NP_001369573.1
- NP_001369574.1
- NP_001369575.1
- NP_001369576.1
- NP_001369577.1
- NP_008863.3
- NP_599031.1
- NP_599032.2
Antibodies for research
- LifeSpan BioSciences Smoothelin Monoclonal Antibody (LS-B6052) and Smoothelin Monoclonal Antibody (LS-B16579)
-
Custom Antibody ServicesOriGene Antibodies for SMTN
- Novus Biologicals Antibodies for SMTN
-
Abcam antibodies for SMTN
- Invitrogen Antibodies for SMTN (AFLGC-SMTN)
-
Custom Antibody ServicesProSci Antibodies for SMTN
-
Santa Cruz Biotechnology (SCBT) Antibodies for SMTN
- Sino Biological Antibodies for SMTN
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for SMTN
- Origene Custom Protein Services for SMTN
- antibodies-online: Show 6 available Smoothelin Proteins ranked by validation data
- Compare Top Smoothelin Proteins
-
Quality Products:
-
Abcam proteins for SMTN
Assay products for research
- antibodies-online: Show 13 available Smoothelin Elisa Kits ranked by validation data
- Compare Top Smoothelin Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for SMTN Gene
Domains & Families for SMTN Gene
Gene Families for SMTN Gene
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for SMTN Gene
- GenScript: Design optimal peptide antigens:
-
- Smoothelin (SMTN_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P53814- Family:
-
- Belongs to the smoothelin family.
Function for SMTN Gene
Molecular function for SMTN Gene
- UniProtKB/Swiss-Prot Function:
- Structural protein of the cytoskeleton.
- GENATLAS Biochemistry:
- smoothelin,protein,59kDa,expressed in contractile smooth muscle cells (short isoform) and in all vascularized organs (long isoform)
Phenotypes From GWAS Catalog for SMTN Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003779 | actin binding | TAS | 8707825 |
| GO:0005515 | protein binding | IEA | -- |
| GO:0008307 | structural constituent of muscle | TAS | 8707825 |
| GO:0017137 | Rab GTPase binding | IEA | -- |
Phenotypes for SMTN Gene
- MGI mutant phenotypes for SMTN:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for SMTN:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SMTN - Starting at $85 >
- * SMTN CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SMTN
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SMTN
-
Santa Cruz Biotechnology (SCBT) CRISPR for SMTN
miRNA for SMTN Gene
- miRTarBase miRNAs that target SMTN
-
- hsa-miR-374a-3p (MIRT529843)
- hsa-miR-570-3p (MIRT529844)
- hsa-miR-32-3p (MIRT529845)
- hsa-miR-548t-3p (MIRT529846)
- hsa-miR-548ap-3p (MIRT529847)
- hsa-miR-548aa (MIRT529848)
- hsa-miR-149-3p (MIRT737791)
- hsa-miR-223-5p (MIRT739091)
- hsa-miR-297 (MIRT739533)
- hsa-miR-299-3p (MIRT739553)
- hsa-miR-3151-5p (MIRT740362)
- hsa-miR-328-5p (MIRT741300)
- hsa-miR-4447 (MIRT744665)
- hsa-miR-4472 (MIRT744991)
- hsa-miR-4491 (MIRT745269)
- hsa-miR-4520-5p (MIRT745822)
- hsa-miR-4657 (MIRT746666)
- hsa-miR-4723-5p (MIRT747671)
- hsa-miR-4728-5p (MIRT747887)
- hsa-miR-491-5p (MIRT749233)
- hsa-miR-567 (MIRT751127)
- hsa-miR-5698 (MIRT751304)
- hsa-miR-6742-5p (MIRT754396)
- hsa-miR-6785-5p (MIRT755882)
- hsa-miR-6795-5p (MIRT756141)
- hsa-miR-6796-5p (MIRT756164)
- hsa-miR-6804-5p (MIRT756453)
- hsa-miR-6825-5p (MIRT757020)
- hsa-miR-6870-5p (MIRT758004)
- hsa-miR-6883-5p (MIRT758467)
- hsa-miR-6885-5p (MIRT758547)
- hsa-miR-6887-5p (MIRT758600)
- hsa-miR-7109-5p (MIRT758958)
- hsa-miR-7111-5p (MIRT759062)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SMTN
- Browse OriGene Inhibitory RNA Products For SMTN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMTN
Clone products for research
- Applied Biological Materials (abm): Clones for SMTN - Starting at $45 >
- * SMTN as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG211190
- MG215351
- MR211190
- MR211190L3
- MR211190L4
- MR215351
- MR215351L3
- MR215351L4
- MR230845
- MR231387
- MR231390
- RC202191
- RC202191L3
- RC202191L4
- RC211737
- RC211737L3
- RC211737L4
- RC213908
- RC213908L3
- RC213908L4
- RC235091
- RC235116
- RG202191
- RG211737
- RG213908
- RG235091
- RG235116
- RR212752
- RR212752L3
- RR212752L4
- MR211190L3V
- MR211190L4V
- MR215351L3V
- MR215351L4V
- RC202191L3V
- RC202191L4V
- RC211737L3V
- RC211737L4V
- RC213908L3V
- RC213908L4V
- RR212752L3V
- RR212752L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SMTN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SMTN
Cell Lines for research
-
Horizon Cell Lines for SMTN
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SMTN Gene
Localization for SMTN Gene
Subcellular locations from UniProtKB/Swiss-Prot for SMTN Gene
- Cytoplasm, cytoskeleton. Note=Exhibits a filamentous organization.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 4 |
| cytosol | 3 |
| extracellular | 2 |
| plasma membrane | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
- Actin filaments (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005815 | microtubule organizing center | IBA | 21873635 |
| GO:0005856 | cytoskeleton | TAS | 8707825 |
| GO:0015629 | actin cytoskeleton | TAS | 8707825 |
| GO:0031941 | filamentous actin | IBA | 21873635 |
Pathways & Interactions for SMTN Gene
Interacting Proteins for SMTN Gene
Selected Interacting proteins:
P53814-SMTN_HUMAN
ENSP00000484398
for SMTN Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for SMTN
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006939 | smooth muscle contraction | TAS | 8707825 |
| GO:0007517 | muscle organ development | TAS | 8707825 |
| GO:0030036 | actin cytoskeleton organization | IBA | 21873635 |
| GO:0032456 | endocytic recycling | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for SMTN Gene
Transcripts for SMTN Gene
mRNA/cDNA for SMTN Gene
- 16 REFSEQ mRNAs :
- 26 NCBI additional mRNA sequence :
- 24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000333137 3296 nts (view in UCSC)
- ENST00000347557 3130 nts (view in UCSC)
- ENST00000358743 3198 nts (view in UCSC)
- ENST00000404574 1735 nts (view in UCSC)
- ENST00000416786 823 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SMTN - Starting at $85 >
- * SMTN CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SMTN
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SMTN
-
Santa Cruz Biotechnology (SCBT) CRISPR for SMTN
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SMTN
- Browse OriGene Inhibitory RNA Products For SMTN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMTN
Clone products for research
- Applied Biological Materials (abm): Clones for SMTN - Starting at $45 >
- * SMTN as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG211190
- MG215351
- MR211190
- MR211190L3
- MR211190L4
- MR215351
- MR215351L3
- MR215351L4
- MR230845
- MR231387
- MR231390
- RC202191
- RC202191L3
- RC202191L4
- RC211737
- RC211737L3
- RC211737L4
- RC213908
- RC213908L3
- RC213908L4
- RC235091
- RC235116
- RG202191
- RG211737
- RG213908
- RG235091
- RG235116
- RR212752
- RR212752L3
- RR212752L4
- MR211190L3V
- MR211190L4V
- MR215351L3V
- MR215351L4V
- RC202191L3V
- RC202191L4V
- RC211737L3V
- RC211737L4V
- RC213908L3V
- RC213908L4V
- RR212752L3V
- RR212752L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SMTN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SMTN
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | · | 12c | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | · | 18c | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP17: |
| ExUns: | 18d | ^ | 19 | ^ | 20a | · | 20b | ^ | 21a | · | 21b | ^ | 22 | ^ | 23 | ^ | 24a | · | 24b | ^ | 25a | · | 25b | ^ | 26 | ^ | 27a | · | 27b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | ||||||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | |||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | - | |||||||||||||||||||||
| SP5: | - | - | - | - | - | - | |||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | |||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||
| SP8: | - | - | |||||||||||||||||||||||||||
| SP9: | - | ||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||||
| SP12: | - | ||||||||||||||||||||||||||||
| SP13: | |||||||||||||||||||||||||||||
| SP14: | |||||||||||||||||||||||||||||
| SP15: | |||||||||||||||||||||||||||||
| SP16: | |||||||||||||||||||||||||||||
| SP17: |
Relevant External Links for SMTN Gene
- GeneLoc Exon Structure for
- SMTN
Expression for SMTN Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Smooth Muscle (Muscoskeletal System)
- Vascular Smooth Muscle Cells Splanchnic Mesoderm
- Vascular Smooth Muscle Cells Veins
- Vascular Smooth Muscle Cells Aortic Arch Arteries
- Smooth muscle-like cells(Ghionzoli M et. al. 2013)
- Neuroectoderm-derived smooth muscle cells(Cheung C et. al. 2012)
- Gut Tube (Gastrointestinal Tract)
-
Lateral Plate Mesoderm (Gastrulation Derivatives)
- Vascular Smooth Muscle Cells Splanchnic Mesoderm
- Endothelium (Cardiovascular System)
-
Heart (Cardiovascular System)
- Vascular Smooth Muscle Cells Aortic Arch Arteries
- Umbilical Cord (Extraembryonic Tissues)
- Colon (Gastrointestinal Tract)
-
Uterus (Reproductive System)
-
Prostate (Endocrine System)
mRNA differential expression in normal tissues according to GTEx for SMTN Gene
This gene is overexpressed in Esophagus - Gastroesophageal Junction (x6.2), Colon - Sigmoid (x6.0), Esophagus - Muscularis (x5.9), and Artery - Tibial (x4.4).
This gene is overexpressed in Colon muscle (15.8), Urinary Bladder (14.1), Colon (11.6), and Rectum (11.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SMTN Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SMTN
SOURCE GeneReport for Unigene cluster for SMTN Gene:
Hs.149098mRNA Expression by UniProt/SwissProt for SMTN Gene:
P53814-SMTN_HUMAN
Tissue specificity:
Smooth muscle; contractile or vascular (for the long form).
Evidence on tissue expression from TISSUES for SMTN Gene
- Intestine(4.9)
- Muscle(4.7)
- Nervous system(4.6)
- Skin(3.6)
- Heart(3.5)
- Kidney(3.3)
- Stomach(3)
- Lung(2.4)
- Blood(2.4)
Primer products for research
-
OriGene qPCR primer pairs for SMTN
-
OriGene qPCR primer pairs and template standards for SMTN
Gene Expression Assays for research
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SMTN Gene
Orthologs for SMTN Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SMTN 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SMTN 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SMTN 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SMTN 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Smtn 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Smtn 30 |
|
||
| Chicken (Gallus gallus) |
Aves | SMTN 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SMTN 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | smtn 30 |
|
||
| Str.1497 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68765 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | smtnb 31 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | T15B12.1 31 32 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10261 31 |
|
ManyToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.9420 30 |
|
- Species where no ortholog for SMTN was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Oppossum (Monodelphis domestica)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for SMTN Gene
- ENSEMBL:
- Gene Tree for SMTN (if available)
- TreeFam:
- Gene Tree for SMTN (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SMTN: view image
Paralogs for SMTN Gene
(3) SIMAP similar genes for SMTN Gene using alignment to 10 proteins:
- SMTN_HUMAN
- B5MCI0_HUMAN
- C9JBH9_HUMAN
- C9JGQ0_HUMAN
- C9JP19_HUMAN
- C9JQZ8_HUMAN
- C9JV14_HUMAN
- C9JYU8_HUMAN
- H7BZZ8_HUMAN
- H7C372_HUMAN
No data available for Paralogs for SMTN Gene
Variants for SMTN Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SMTN Gene
| SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs113930388 | Benign: not provided | 31,089,937(+) |
C/T NM_134269.3(SMTN):c.710C>T (p.Pro237Leu) |
MISSENSE | |
| rs116593437 | Benign: not provided | 31,091,747(+) |
G/A NM_134269.3(SMTN):c.1532G>A (p.Arg511His) |
MISSENSE | |
| rs1265014709 | Likely Benign: not provided | 31,091,286(+) |
G/A NM_134269.3(SMTN):c.1263G>A (p.Leu421=) |
SYNONYMOUS | |
| rs201342047 | Benign: not provided | 31,090,868(+) |
C/A NM_134269.3(SMTN):c.926C>A (p.Ala309Asp) |
MISSENSE | |
| rs73408133 | Benign: not provided | 31,082,956(+) |
G/A NM_134269.3(SMTN):c.-80-223G>A |
SYNONYMOUS_VARIANT,INTRON |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
84.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
12.60;
94.50% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SMTN Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMTN Gene
Disorders for SMTN Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| glomuvenous malformations |
|
|
| atrophy of prostate |
|
|
| viral gastritis |
|
|
| cerebral cavernous malformations |
|
|
| malignant mesenchymoma |
|
|
Search SMTN in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SMTN
- Genetic Association Database
- (GAD)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for SMTN Gene
Publications for SMTN Gene
- Smoothelin, a novel cytoskeletal protein specific for smooth muscle cells. (PMID: 8707825) van der Loop FT … van Eys GJ (The Journal of cell biology 1996) 2 3 4 23
- Expression of the smoothelin gene is mediated by alternative promoters. (PMID: 12176134) Rensen SS … Van Eys GJ (Cardiovascular research 2002) 3 4 23
- Identification and characterization of novel smoothelin isoforms in vascular smooth muscle. (PMID: 11316948) Krämer J … Leonhardt H (Journal of vascular research 2001) 3 4 23
- Assignment of the human gene for smoothelin (SMTN) to chromosome 22q12 by fluorescence in situ hybridization and radiation hybrid mapping. (PMID: 9244445) Engelen JJ … van Eys GJ (Genomics 1997) 2 3 23
- Pitfalls in the use of smoothelin to identify muscularis propria invasion by urothelial carcinoma. (PMID: 20154589) Miyamoto H … Epstein JI (The American journal of surgical pathology 2010) 3 23
ExternalLinks
Products for SMTN Gene
- Custom Antibody ServicesOriGene Antibodies for SMTN
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for SMTN
- Origene Custom Protein Services for SMTN
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SMTN
- Browse OriGene Inhibitory RNA Products For SMTN
- OriGene qPCR primer pairs for SMTN
- OriGene qPCR primer pairs and template standards for SMTN
- OriGene CRISPR knockouts for SMTN
- MG211190
- MG215351
- MR211190
- MR211190L3
- MR211190L4
- MR215351
- MR215351L3
- MR215351L4
- MR230845
- MR231387
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- RC202191
- RC202191L3
- RC202191L4
- RC211737
- RC211737L3
- RC211737L4
- RC213908
- RC213908L3
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- RC235091
- RC235116
- RG202191
- RG211737
- RG213908
- RG235091
- RG235116
- RR212752
- RR212752L3
- RR212752L4
- MR211190L3V
- MR211190L4V
- MR215351L3V
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- RC202191L3V
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- RC211737L3V
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- RC213908L3V
- RC213908L4V
- RR212752L3V
- RR212752L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SMTN
- Sino Biological Human cDNA Clone for SMTN
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- Sino Biological Antibodies for SMTN
- Browse Sino Biological Assays
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for SMTN
- Novus Biologicals proteins and lysates for SMTN
- Browse Antibodies
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- Browse Primary Antibodies
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- Invitrogen Antibodies for SMTN (AFLGC-SMTN)
- VectorBuilder Custom and pre-made DNA vectors for SMTN (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SMTN (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SMTN (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SMTN CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for SMTN
- antibodies-online: Show 28 available Smoothelin Antibodies ranked by validation data
- Compare Top Smoothelin Antibodies
- antibodies-online: Show 13 available Smoothelin Elisa Kits ranked by validation data
- Compare Top Smoothelin Elisa Kits
- Quality Products:
- antibodies-online: Show 6 available Smoothelin Proteins ranked by validation data
- Compare Top Smoothelin Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for SMTN
- Search Santa Cruz Biotechnology (SCBT) for SMTN siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SMTN
- Custom Antibody ServicesProSci Antibodies for SMTN
- Search for SMTN Proteins at ProSci
- Horizon Cell Lines for SMTN
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SMTN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SMTN
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SMTN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMTN
Sources for SMTN Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB