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Aliases for SMTNL2 Gene

Aliases for SMTNL2 Gene

  • Smoothelin-Like 2 2 3

External Ids for SMTNL2 Gene

Previous GeneCards Identifiers for SMTNL2 Gene

  • GC17P004435
  • GC17P004487

Summaries for SMTNL2 Gene

GeneCards Summary for SMTNL2 Gene

SMTNL2 (Smoothelin-Like 2) is a Protein Coding gene. Diseases associated with SMTNL2 include cornelia de lange syndrome. An important paralog of this gene is SPECC1L-ADORA2A.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMTNL2 Gene

Genomics for SMTNL2 Gene

Regulatory Elements for SMTNL2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SMTNL2 Gene

4,583,981 bp from pter
4,608,319 bp from pter
24,339 bases
Plus strand

Genomic View for SMTNL2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SMTNL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMTNL2 Gene

Proteins for SMTNL2 Gene

  • Protein details for SMTNL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Smoothelin-like protein 2
    Protein Accession:
    Secondary Accessions:
    • Q6ZVK6

    Protein attributes for SMTNL2 Gene

    461 amino acids
    Molecular mass:
    50196 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SMTNL2 Gene


neXtProt entry for SMTNL2 Gene

Proteomics data for SMTNL2 Gene at MOPED

Post-translational modifications for SMTNL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SMTNL2 Gene

No data available for DME Specific Peptides for SMTNL2 Gene

Domains & Families for SMTNL2 Gene

Protein Domains for SMTNL2 Gene


Suggested Antigen Peptide Sequences for SMTNL2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 CH (calponin-homology) domain.
  • Belongs to the smoothelin family.
  • Contains 1 CH (calponin-homology) domain.
  • Belongs to the smoothelin family.
genes like me logo Genes that share domains with SMTNL2: view

No data available for Gene Families for SMTNL2 Gene

Function for SMTNL2 Gene

Gene Ontology (GO) - Molecular Function for SMTNL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with SMTNL2: view

Phenotypes for SMTNL2 Gene

GenomeRNAi human phenotypes for SMTNL2:
genes like me logo Genes that share phenotypes with SMTNL2: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SMTNL2 Gene

Localization for SMTNL2 Gene

Subcellular locations from

Jensen Localization Image for SMTNL2 Gene COMPARTMENTS Subcellular localization image for SMTNL2 gene
Compartment Confidence
nucleus 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for SMTNL2 Gene

Pathways & Interactions for SMTNL2 Gene

SuperPathways for SMTNL2 Gene

No Data Available

Interacting Proteins for SMTNL2 Gene

Gene Ontology (GO) - Biological Process for SMTNL2 Gene


No data available for Pathways by source and SIGNOR curated interactions for SMTNL2 Gene

Drugs & Compounds for SMTNL2 Gene

No Compound Related Data Available

Transcripts for SMTNL2 Gene

Unigene Clusters for SMTNL2 Gene

Smoothelin-like 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SMTNL2 Gene

No ASD Table

Relevant External Links for SMTNL2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SMTNL2 Gene

mRNA expression in normal human tissues for SMTNL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SMTNL2 Gene

This gene is overexpressed in Muscle - Skeletal (x39.3).

Protein differential expression in normal tissues from HIPED for SMTNL2 Gene

This gene is overexpressed in Retina (19.3), Ovary (11.3), and Liver (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SMTNL2 Gene

SOURCE GeneReport for Unigene cluster for SMTNL2 Gene Hs.441709

genes like me logo Genes that share expression patterns with SMTNL2: view

Protein tissue co-expression partners for SMTNL2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for SMTNL2 Gene

Orthologs for SMTNL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SMTNL2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia SMTNL2 35
  • 86.73 (n)
  • 86.21 (a)
  • 87 (a)
(Canis familiaris)
Mammalia SMTNL2 35
  • 82.34 (n)
  • 78.37 (a)
  • 80 (a)
(Mus musculus)
Mammalia Smtnl2 35
  • 84.58 (n)
  • 83.77 (a)
Smtnl2 16
Smtnl2 36
  • 85 (a)
(Pan troglodytes)
Mammalia SMTNL2 35
  • 94.07 (n)
  • 90.43 (a)
  • 93 (a)
(Rattus norvegicus)
Mammalia Smtnl2 35
  • 83.63 (n)
  • 83.77 (a)
(Ornithorhynchus anatinus)
Mammalia SMTNL2 36
  • 63 (a)
(Gallus gallus)
Aves SMTNL2 35
  • 61.05 (n)
  • 54.77 (a)
  • 52 (a)
(Anolis carolinensis)
Reptilia SMTNL2 36
  • 70 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494968 35
  • 58.94 (n)
  • 54.41 (a)
(Danio rerio)
Actinopterygii smtnl 35
  • 56.21 (n)
  • 50 (a)
poldip2 36
  • 26 (a)
smtnl 36
  • 44 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6413 35
(Caenorhabditis elegans)
Secernentea T15B12.1 36
  • 23 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10261 36
  • 42 (a)
Species with no ortholog for SMTNL2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 SMTNL2 Gene

Gene Tree for SMTNL2 (if available)
Gene Tree for SMTNL2 (if available)

Paralogs for SMTNL2 Gene

(2) SIMAP similar genes for SMTNL2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SMTNL2: view

Variants for SMTNL2 Gene

Sequence variations from dbSNP and Humsavar for SMTNL2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs872980 -- 4,585,119(-) CGGCC(C/G)GTGAA intron-variant
rs899445 -- 4,593,452(-) CCTTG(A/C)GGGAG intron-variant
rs899446 -- 4,593,367(-) GATGA(C/T)GCTAT intron-variant
rs899447 -- 4,585,548(-) GATTT(A/G)CCCCC intron-variant
rs1038123 -- 4,591,516(-) CATTT(A/C)AGAGA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SMTNL2 Gene

Variant ID Type Subtype PubMed ID
dgv3050n71 CNV Loss 21882294
nsv907615 CNV Loss 21882294
nsv907616 CNV Loss 21882294
esv997031 CNV Deletion 20482838
nsv907617 CNV Loss 21882294
esv2715556 CNV Deletion 23290073

Variation tolerance for SMTNL2 Gene

Residual Variation Intolerance Score: 83.03% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.11; 75.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMTNL2 Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMTNL2 Gene

Disorders for SMTNL2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SMTNL2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cornelia de lange syndrome
  • de lange syndrome
- elite association

Relevant External Links for SMTNL2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SMTNL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SMTNL2 Gene

Publications for SMTNL2 Gene

  1. Combining docking site and phosphosite predictions to find new substrates: identification of smoothelin-like-2 (SMTNL2) as a c-Jun N-terminal kinase (JNK) substrate. (PMID: 23981301) Gordon E.A. … Bardwell L. (Cell. Signal. 2013) 67
  2. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 67
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 67
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 67
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 67

Products for SMTNL2 Gene

Sources for SMTNL2 Gene

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