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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.

Additional gene information for SLFN14 Gene

No data available for CIViC summary , 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
GH17H035372 1 ENCODE 10 +186.8 186803 2 HDGF GLI4 ZNF2 ZNF121 GLIS2 ZNF416 ZNF143 ATF7 SP3 REST SLFN11 LIG3 SLFN12 ZNF830 ENSG00000267102 ENSG00000267648 SLFN14 RFFL E2F3P1 SLFN5
GH17H035895 1.6 FANTOM5 Ensembl ENCODE dbSUPER 2.6 -338.5 -338467 8 PKNOX1 FEZF1 RAD21 ETV6 RUNX3 IKZF2 SMARCA5 ZNF680 CBFB CEBPB C17orf50 CCL5 GAS2L2 TAF15 HEATR9 SLFN12L SLFN14 PIR57610 GC17M035909 GC17M035888
GH17H035345 1.1 FANTOM5 Ensembl ENCODE 1.3 +214.5 214536 2 CEBPB MAX RAD21 NR2F2 ZNF121 EGR1 CTBP2 EZH2 RFFL SLFN5 SLFN11 ZNF830 SLFN14 GC17P035345 LOC105371933
GH17H035559 1 ENCODE 0.7 +0.4 377 2 PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 ELK1 ATF7 NCOA1 SMARCB1 RASL10B SLFN12L 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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.

Phenotypes From GWAS Catalog for SLFN14 Gene

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 IDA,IEA 25996083
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0043022 ribosome binding IDA,IEA 25996083
genes like me logo Genes that share ontologies with SLFN14: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLFN14
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 IEA,IDA 25996083
GO:0005737 cytoplasm IDA 26280575
genes like me logo Genes that share ontologies with SLFN14: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLFN14 Gene

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 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

Drugs & Compounds for SLFN14 Gene

No Compound Related Data Available

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLFN14
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 CGAP 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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia SLFN14 33 34
  • 84.45 (n)
cow
(Bos Taurus)
Mammalia SLFN14 33 34
  • 84.29 (n)
mouse
(Mus musculus)
Mammalia Slfn14 33 16 34
  • 78.53 (n)
oppossum
(Monodelphis domestica)
Mammalia SLFN14 34
  • 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 Pathogenic, Bleeding disorder, platelet-type 20 (BDPLT20) [MIM:616913] 35,557,396(+) AATCC(A/G)AGGTA reference, missense
rs869320714 Pathogenic, Bleeding disorder, platelet-type 20 (BDPLT20) [MIM:616913] 35,557,404(-) AAAAG(A/T)CATAC reference, missense
rs869320715 Pathogenic, Bleeding disorder, platelet-type 20 (BDPLT20) [MIM:616913] 35,557,406(-) AAAAA(A/T)GTCAT reference, missense
rs869320716 Pathogenic, Bleeding disorder, platelet-type 20 (BDPLT20) [MIM:616913] 35,557,411(-) CCACC(A/G)AAAAA reference, missense
rs1000117842 -- 35,548,753(+) CTTTC(A/G)TAACC intron-variant, reference, missense

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

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

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: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
bleeding disorder, platelet-type, 20
  • platelet-type bleeding disorder 20
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 (Thrombosis and haemostasis 2016) 3 4 60
  2. Characterization of Novel Ribosome-Associated Endoribonuclease SLFN14 from Rabbit Reticulocytes. (PMID: 25996083) Pisareva VP … Pisarev AV (Biochemistry 2015) 3 4 60
  3. SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects. (PMID: 26280575) Fletcher SJ … UK Genotyping and Phenotyping of Platelets study group (The Journal of clinical investigation 2015) 3 4 60
  4. New gene functions in megakaryopoiesis and platelet formation. (PMID: 22139419) Gieger C … Soranzo N (Nature 2011) 3 45 60
  5. Schlafen, a new family of growth regulatory genes that affect thymocyte development. (PMID: 9846487) Schwarz DA … Hedrick SM (Immunity 1998) 2 3 60

Products for SLFN14 Gene

Sources for SLFN14 Gene

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