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Aliases for SMTNL2 Gene

Aliases for SMTNL2 Gene

  • Smoothelin Like 2 2 3 5
  • Smoothelin-Like 2 2

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 SMTN.

No data available for Entrez Gene Summary , CIViC 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

Enhancers for SMTNL2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G004583 1.2 ENCODE dbSUPER 17.9 +2.6 2612 6.3 PKNOX1 SIN3A ZNF2 TCF12 GLIS2 FOS SP3 REST ZNF610 SMARCA4 GGT6 SMTNL2 RNU6-955P ALOX15 SHPK DERL2 VMO1 LINC01996
GH17G004590 1 dbSUPER 15.4 +8.3 8257 4.3 PKNOX1 MLX ARID4B SIN3A ZNF48 YY1 SLC30A9 FOS MXD4 MIER2 SMTNL2 RNU6-955P ALOX15 ENSG00000263164 GGT6 LOC100130950 LINC01996
GH17G003913 1.9 FANTOM5 Ensembl ENCODE dbSUPER 5.6 -667.7 -667681 5.8 HDGF PKNOX1 FOXA2 ATF1 SIN3A ZNF2 ZNF48 ZNF121 ZNF766 GLIS2 P2RX1 ATP2A3 P2RX5 SMTNL2 ZZEF1 UBE2G1 GC17M003905
GH17G004594 1.3 Ensembl ENCODE dbSUPER 6.6 +11.1 11102 1.4 RING1 CTCF KLF1 TAF1 ZNF792 RAD21 YY1 HIC1 GLIS2 POLR2A LOC100130950 ZNF594 RNU6-955P ENSG00000263272 ALOX15 GGT6 ZNF232 ENSG00000263164 SMTNL2 LINC01996
GH17G004597 1.4 Ensembl ENCODE dbSUPER 5.9 +15.7 15715 4.2 PKNOX1 KLF17 BMI1 ZNF121 GLIS2 ZNF366 SCRT2 FOS EGR2 ZNF263 GGT6 SMTNL2 LINC01996 ENSG00000262165
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SMTNL2 on UCSC Golden Path with GeneCards custom track

Promoters for SMTNL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000090503 519 201 SIN3A ZNF76 KLF17 ZNF2 ZEB1 GLIS2 EGR2 SP3 ZEB2 ZNF398

Genomic Location for SMTNL2 Gene

Chromosome:
17
Start:
4,583,981 bp from pter
End:
4,608,319 bp from pter
Size:
24,339 bases
Orientation:
Plus strand

Genomic View for SMTNL2 Gene

Genes around SMTNL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMTNL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q2TAL5-SMTL2_HUMAN
    Recommended name:
    Smoothelin-like protein 2
    Protein Accession:
    Q2TAL5
    Secondary Accessions:
    • Q6ZVK6

    Protein attributes for SMTNL2 Gene

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

    Alternative splice isoforms for SMTNL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMTNL2 Gene

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SMTNL2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q2TAL5

UniProtKB/Swiss-Prot:

SMTL2_HUMAN :
  • Belongs to the smoothelin family.
Family:
  • 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

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SMTNL2 Gene

Localization for SMTNL2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SMTNL2 gene
Compartment Confidence
nucleus 4
cytosol 3
golgi apparatus 1

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

None

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:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for SMTNL2 Gene

GeneLoc Exon Structure for
SMTNL2
ECgene alternative splicing isoforms for
SMTNL2

Expression for SMTNL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for SMTNL2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SMTNL2 Gene:

SMTNL2

SOURCE GeneReport for Unigene cluster for SMTNL2 Gene:

Hs.441709
genes like me logo Genes that share expression patterns with SMTNL2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia SMTNL2 34 35
  • 94.07 (n)
cow
(Bos Taurus)
Mammalia SMTNL2 34 35
  • 86.73 (n)
mouse
(Mus musculus)
Mammalia Smtnl2 34 16 35
  • 84.58 (n)
rat
(Rattus norvegicus)
Mammalia Smtnl2 34
  • 83.63 (n)
dog
(Canis familiaris)
Mammalia SMTNL2 34 35
  • 82.34 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SMTNL2 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves SMTNL2 34 35
  • 61.05 (n)
lizard
(Anolis carolinensis)
Reptilia SMTNL2 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494968 34
  • 58.94 (n)
zebrafish
(Danio rerio)
Actinopterygii smtnl 34 35
  • 56.21 (n)
poldip2 35
  • 26 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6413 34
worm
(Caenorhabditis elegans)
Secernentea T15B12.1 35
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10261 35
  • 42 (a)
ManyToMany
Species where no ortholog for SMTNL2 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for SMTNL2 (if available)
TreeFam:
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
rs1000064013 -- 4,582,635(+) CAAGG(A/G)GGATG upstream-variant-2KB
rs1000156122 -- 4,587,773(+) ATATA(C/T)AAATG intron-variant
rs1000267080 -- 4,599,127(+) TTAGC(C/T)TGAGT intron-variant
rs1000366820 -- 4,592,891(+) CTGCC(A/C)CAGCT intron-variant
rs1000486716 -- 4,593,116(+) CTGGG(A/G)GGCCT intron-variant, reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
esv2715556 CNV deletion 23290073
esv997031 CNV deletion 20482838
nsv1061858 CNV gain 25217958
nsv1153877 CNV deletion 26484159
nsv574273 CNV gain 21841781

Variation tolerance for SMTNL2 Gene

Residual Variation Intolerance Score: 83% 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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMTNL2

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 and GeneCards

Disorder Aliases PubMed IDs
cornelia de lange syndrome
  • brachmann de lange syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SMTNL2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMTNL2
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. Quantitative Proteomics Reveals Dynamic Interactions of the Minichromosome Maintenance Complex (MCM) in the Cellular Response to Etoposide Induced DNA Damage. (PMID: 25963833) Drissi R. … Boisvert F.M. (Mol. Cell Proteomics 2015) 3 64
  2. 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) 3 64
  3. 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) 3 64
  4. 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) 3 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 4 64

Products for SMTNL2 Gene

Sources for SMTNL2 Gene

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