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Aliases for SLFN14 Gene

Aliases for SLFN14 Gene

  • Schlafen Family Member 14 2 3 5
  • Protein SLFN14 3
  • BDPLT20 3

External Ids for SLFN14 Gene

Previous GeneCards Identifiers for SLFN14 Gene

  • GC17M030901
  • GC17M033875
  • GC17M030060

Summaries for SLFN14 Gene

Entrez Gene Summary for SLFN14 Gene

  • The protein encoded by this gene plays an important role in platelet formation and function. Defects in this gene are a cause of thrombocytopenia with excessive bleeding. [provided by RefSeq, Jul 2016]

GeneCards Summary for SLFN14 Gene

SLFN14 (Schlafen Family Member 14) is a Protein Coding gene. Diseases associated with SLFN14 include Bleeding Disorder, Platelet-Type 20 and Thrombocytopenia. An important paralog of this gene is SLFN13.

UniProtKB/Swiss-Prot for SLFN14 Gene

  • Protein SLFN14: Shows no ribosome-associated and endoribonuclease activities.

  • C-terminally truncated SLFN14 endoribonuclease: Displays polysome-associated endoribonuclease activity towards mRNAs and rRNAs (PubMed:25996083). May play a role in RNA surveillance pathways by recognizing stalled ribosomes and triggering endonucleolytic cleavage of aberrant mRNAs (Probable). Cleaves different types of rRNAs and mRNAs in a magnesium- and manganese-dependent and ATP-independent manner (By similarity). Involved in correct maturation of megakaryocytes and especially important for proplatelet extension.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLFN14 Gene

Genomics for SLFN14 Gene

Regulatory Elements for SLFN14 Gene

Enhancers for SLFN14 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
GH17F035372 1 ENCODE 10 +186.8 186803 2.6 HDGF ATF1 GLI4 ZNF2 ZNF121 GLIS2 ZNF416 ZNF263 SP3 REST SLFN11 LIG3 SLFN12 ENSG00000270871 ZNF830 ENSG00000267102 ENSG00000267648 SLFN14 ENSG00000270894 RFFL
GH17F035895 1.4 FANTOM5 Ensembl ENCODE 2.6 -338.5 -338467 8.1 PKNOX1 FEZF1 ETV6 FOS ZNF680 CBFB USF2 CEBPB TBX21 MAFF C17orf50 CCL5 GAS2L2 TAF15 HEATR9 SLFN12L SLFN14 GC17M035888 GC17M035909 PIR57610
GH17F035345 1.1 FANTOM5 Ensembl ENCODE 1.3 +214.5 214536 2.2 CBX2 CEBPB NR2F2 ZNF121 CBX8 CTBP2 FOXP2 EZH2 RFFL SLFN5 SLFN11 ZNF830 SLFN14 GC17P035345 LOC105371933
GH17F035559 1 ENCODE 0.8 +0.4 377 2.3 PKNOX1 ATF1 ARNT GLIS2 ELK1 GATA2 JUNB NCOA1 SMARCB1 MBD2 RASL10B SLFN12L ENSG00000267321 ZNF830 TAF15 AP2B1 LOC100420062 GAS2L2 SLFN14 GC17M035546
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLFN14 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLFN14 Gene

Chromosome:
17
Start:
35,545,734 bp from pter
End:
35,560,836 bp from pter
Size:
15,103 bases
Orientation:
Minus strand

Genomic View for SLFN14 Gene

Genes around SLFN14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLFN14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLFN14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLFN14 Gene

Proteins for SLFN14 Gene

  • Protein details for SLFN14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0C7P3-SLN14_HUMAN
    Recommended name:
    Protein SLFN14
    Protein Accession:
    P0C7P3
    Secondary Accessions:
    • B2RTW9

    Protein attributes for SLFN14 Gene

    Size:
    912 amino acids
    Molecular mass:
    103907 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • C-terminally truncated SLFN14 endoribonuclease: Associates with ribosomes in an ATP-independent manner (PubMed:25996083).

    Alternative splice isoforms for SLFN14 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLFN14 Gene

Post-translational modifications for SLFN14 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLFN14 Gene

No data available for DME Specific Peptides for SLFN14 Gene

Domains & Families for SLFN14 Gene

Gene Families for SLFN14 Gene

Protein Domains for SLFN14 Gene

Suggested Antigen Peptide Sequences for SLFN14 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P0C7P3

UniProtKB/Swiss-Prot:

SLN14_HUMAN :
  • Belongs to the Schlafen family.
Family:
  • Belongs to the Schlafen family.
genes like me logo Genes that share domains with SLFN14: view

Function for SLFN14 Gene

Molecular function for SLFN14 Gene

UniProtKB/Swiss-Prot Function:
Protein SLFN14: Shows no ribosome-associated and endoribonuclease activities.
UniProtKB/Swiss-Prot Function:
C-terminally truncated SLFN14 endoribonuclease: Displays polysome-associated endoribonuclease activity towards mRNAs and rRNAs (PubMed:25996083). May play a role in RNA surveillance pathways by recognizing stalled ribosomes and triggering endonucleolytic cleavage of aberrant mRNAs (Probable). Cleaves different types of rRNAs and mRNAs in a magnesium- and manganese-dependent and ATP-independent manner (By similarity). Involved in correct maturation of megakaryocytes and especially important for proplatelet extension.

Gene Ontology (GO) - Molecular Function for SLFN14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004519 endonuclease activity IEA --
GO:0004521 endoribonuclease activity IEA,IDA 25996083
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0043022 ribosome binding IEA,IDA 25996083
genes like me logo Genes that share ontologies with SLFN14: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SLFN14 Gene

Localization for SLFN14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLFN14 Gene

Protein SLFN14: Nucleus.

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 SLFN14 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SLFN14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 25996083
GO:0005737 cytoplasm IDA 26280575
genes like me logo Genes that share ontologies with SLFN14: view

Pathways & Interactions for SLFN14 Gene

SuperPathways for SLFN14 Gene

No Data Available

Interacting Proteins for SLFN14 Gene

Gene Ontology (GO) - Biological Process for SLFN14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006402 mRNA catabolic process IEA,IDA 25996083
GO:0016075 rRNA catabolic process IEA,IDA 25996083
GO:0036345 platelet maturation IMP 26769223
GO:0071286 cellular response to magnesium ion ISS --
GO:0071287 cellular response to manganese ion ISS --
genes like me logo Genes that share ontologies with SLFN14: view

No data available for Pathways by source and SIGNOR curated interactions for SLFN14 Gene

Transcripts for SLFN14 Gene

mRNA/cDNA for SLFN14 Gene

(5) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLFN14 Gene

Schlafen family member 14:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLFN14 Gene

No ASD Table

Relevant External Links for SLFN14 Gene

GeneLoc Exon Structure for
SLFN14
ECgene alternative splicing isoforms for
SLFN14

Expression for SLFN14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLFN14 Gene

mRNA differential expression in normal tissues according to GTEx for SLFN14 Gene

This gene is overexpressed in Whole Blood (x8.3), Spleen (x6.5), Lung (x4.3), and Small Intestine - Terminal Ileum (x4.2).

Protein differential expression in normal tissues from HIPED for SLFN14 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (37.9), Platelet (13.5), and Serum (11.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLFN14 Gene



Protein tissue co-expression partners for SLFN14 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLFN14 Gene:

SLFN14

SOURCE GeneReport for Unigene cluster for SLFN14 Gene:

Hs.591193

mRNA Expression by UniProt/SwissProt for SLFN14 Gene:

P0C7P3-SLN14_HUMAN
Tissue specificity: Expressed in megakaryocytes and platelets (at protein level) (PubMed:26280575). Weakly expressed in melanocytes and malignant melanoma cells (PubMed:20956525).
genes like me logo Genes that share expression patterns with SLFN14: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SLFN14 Gene

Orthologs for SLFN14 Gene

This gene was present in the common ancestor of mammals.

Orthologs for SLFN14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLFN14 34 35
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia SLFN14 34 35
  • 84.45 (n)
cow
(Bos Taurus)
Mammalia SLFN14 34 35
  • 84.29 (n)
mouse
(Mus musculus)
Mammalia Slfn14 34 16 35
  • 78.53 (n)
oppossum
(Monodelphis domestica)
Mammalia SLFN14 35
  • 61 (a)
OneToOne
Species where no ortholog for SLFN14 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SLFN14 Gene

ENSEMBL:
Gene Tree for SLFN14 (if available)
TreeFam:
Gene Tree for SLFN14 (if available)

Paralogs for SLFN14 Gene

Paralogs for SLFN14 Gene

(6) SIMAP similar genes for SLFN14 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SLFN14: view

Variants for SLFN14 Gene

Sequence variations from dbSNP and Humsavar for SLFN14 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs757188030 Bleeding disorder, platelet-type 20 (BDPLT20) [MIM:616913], Pathogenic 35,557,396(+) AATCC(A/G)AGGTA reference, missense
VAR_075786 Bleeding disorder, platelet-type 20 (BDPLT20) [MIM:616913]
VAR_075787 Bleeding disorder, platelet-type 20 (BDPLT20) [MIM:616913]
VAR_075788 Bleeding disorder, platelet-type 20 (BDPLT20) [MIM:616913]
rs869320714 Pathogenic 35,557,404(-) AAAAG(A/T)CATAC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SLFN14 Gene

Variant ID Type Subtype PubMed ID
nsv574754 CNV loss 21841781
esv3892999 CNV loss 25118596

Variation tolerance for SLFN14 Gene

Gene Damage Index Score: 14.13; 96.14% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLFN14 Gene

Human Gene Mutation Database (HGMD)
SLFN14
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLFN14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLFN14 Gene

Disorders for SLFN14 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SLFN14 Gene - From: ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
bleeding disorder, platelet-type 20
  • bdplt20
thrombocytopenia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SLN14_HUMAN
  • Bleeding disorder, platelet-type 20 (BDPLT20) [MIM:616913]: A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. BDPLT20 is characterized by moderate thrombocytopenia and platelet secretion defects. Inheritance is autosomal dominant. {ECO:0000269 PubMed:26280575, ECO:0000269 PubMed:26769223}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLFN14

Genetic Association Database (GAD)
SLFN14
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLFN14
genes like me logo Genes that share disorders with SLFN14: view

No data available for Genatlas for SLFN14 Gene

Publications for SLFN14 Gene

  1. SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia. (PMID: 26769223) Marconi C. … Pecci A. (Thromb. Haemost. 2016) 3 4 64
  2. Characterization of Novel Ribosome-Associated Endoribonuclease SLFN14 from Rabbit Reticulocytes. (PMID: 25996083) Pisareva V.P. … Pisarev A.V. (Biochemistry 2015) 3 4 64
  3. SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects. (PMID: 26280575) Fletcher S.J. … Morgan N.V. (J. Clin. Invest. 2015) 3 4 64
  4. New gene functions in megakaryopoiesis and platelet formation. (PMID: 22139419) Gieger C. … Soranzo N. (Nature 2011) 3 46 64
  5. Schlafen, a new family of growth regulatory genes that affect thymocyte development. (PMID: 9846487) Schwarz D.A. … Hedrick S.M. (Immunity 1998) 2 3 64

Products for SLFN14 Gene

Sources for SLFN14 Gene

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