SLFN14 (schlafen family member 14)

Gene

• Entrez ID: 342618
• Gene name: Schlafen family member 14
• Gene symbol: SLFN14
• Synonyms (NCBI Gene): BDPLT20
• Chromosome: 17
• Chromosome location: 17q12
• Summary: 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs757188030	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs869320714	A>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs869320715	T>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs869320716	T>C	Pathogenic	Missense variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0004521	Function	RNA endonuclease activity	IBA
GO:0004521	Function	RNA endonuclease activity	IDA	25996083
GO:0004521	Function	RNA endonuclease activity	IEA
GO:0004540	Function	RNA nuclease activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	25996083, 26280575
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	26280575
GO:0006402	Process	MRNA catabolic process	IBA
GO:0006402	Process	MRNA catabolic process	IDA	25996083
GO:0006402	Process	MRNA catabolic process	IEA
GO:0016075	Process	RRNA catabolic process	IBA
GO:0016075	Process	RRNA catabolic process	IDA	25996083
GO:0016075	Process	RRNA catabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0036345	Process	Platelet maturation	IMP	26769223
GO:0043022	Function	Ribosome binding	IBA
GO:0043022	Function	Ribosome binding	IDA	25996083
GO:0043022	Function	Ribosome binding	IEA
GO:0071286	Process	Cellular response to magnesium ion	ISS
GO:0071287	Process	Cellular response to manganese ion	ISS

Other IDs

• MIM: 614958
• HGNC: 32689
• e!Ensembl: ENSG00000236320

Protein

• UniProt ID: P0C7P3
• Protein name: Protein SLFN14 [Cleaved into: C-terminally truncated SLFN14 endoribonuclease (EC 3.1.-.-) (Schlafen family member 14)]
• Protein function: [Protein SLFN14]: Shows no ribosome-associated and endoribonuclease activities. ; [C-terminally truncated SLFN14 endoribonuclease]: Displays polysome-associated endoribonuclease activity towards mRNAs and
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04326	AlbA_2	206 → 340	Putative DNA-binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in megakaryocytes and platelets (at protein level) (PubMed:26280575). Weakly expressed in melanocytes and malignant melanoma cells (PubMed:20956525). {ECO:0000269|PubMed:20956525, ECO:0000269|PubMed:26280575}.
• Sequence:

  MESLKTDTEMPYPEVIVDVGRVIFGEENRKKMTNSCLKRSENSRIIRAICALLNSGGGVI
  KAEIDDKTYSYQCHGLGQDLETSFQKLLPSGSQKYLDYMQQGHNLLIFVKSWSPDVFSLP
  LRICSLRSNLYRRDVTSAINLSASSALELLREKGFRAQRGRPRVKKLHPQQVLNRCIQEE
  EDMRILASEFFKKDKLMYKEKLNFTESTHVEFKRFTTKKVIPRIKEMLPHYVSAFANTQG
  GYVLIGVDDKSKEVVGCKWEKVNPDLLKKEIENCIEKLPTFHFCCEKPKVNFTTKILNVY
  QKDVLDGYVCVIQVEPFCCVVFAEAPDSWIMKDNSVTRLTAEQWVVMMLDTQSAPPSLVT
  DYNSCLISSASSARKSPGYPIKVHKFKEALQRHLFPVTQEEVQFKPESLCKKLFSDHKEL
  EGLMKTLIHPCSQGIVIFSRSWAGDVGFRKEQNVLCDALLIAVNSPVVLYTILIDPNWPG
  GLEYARNTAHQLKQKLQTVGGYTGKVCIIPRLIHLSSTQSRPGEIPLRYPRSYRLADEEE
  MEDLLQALVVVSLSSRSLLSDQMGCEFFNLLIMEQSQLLSESLQKTRELFIYCFPGVRKT
  ALAIKIMEKIKDLFHCKPKEILYVCESDSLKDFVTQQTTCQAVTRKTFMQGEFLKIKHIV
  MDETENFCSKYGNWYMKAKNITHPKAKGTGSENLHHGILWLFLDPFQIHHADVNGLPPPS
  AQFPRKTITSGIHCALEIAKVMKEEMKRIKENPPSNMSPDTLALFSETAYEEATCAQALP
  GVCETKTNLTTEQIANYVARKCHSLFQCGYLPKDIAILCRRGEDRGRYRLALLKAMELIE
  THRPSEVVFSPATGVWGSHIVLDSIQQFSGLERTVVFGLSPECDQSEEFHKLCFASRAIK
  HLYLLYEKRAAY

• Sequence length: 912

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal bleeding	Likely pathogenic; Pathogenic	rs869320714, rs2072671208	RCV001003915 RCV001270499	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Platelet-type bleeding disorder 20	Likely pathogenic; Pathogenic	rs869320714, rs869320716, rs757188030	RCV000210921 RCV000210920 RCV000210922	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia	Likely pathogenic; Pathogenic	rs869320714, rs2072671208	RCV001003915 RCV001270499	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL DOMINANT THROMBOCYTOPENIA WITH PLATELET SECRETION DEFECT	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEEDING DISORDER, PLATELET-TYPE, 20	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLFN14-related disorder	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Atrial Septal Defects	Atrial Septal Defect	BEFREE	30536060		★☆☆☆☆ Found in Text Mining only
Autosomal dominant thrombocytopenia with platelet secretion defect	Thrombocytopenia With Platelet Secretion Defect	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEEDING DISORDER, PLATELET-TYPE, 20	Platelet-type bleeding disorder	GENOMICS_ENGLAND_DG	26280575, 26769223		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEEDING DISORDER, PLATELET-TYPE, 20	Platelet-type bleeding disorder	UNIPROT_DG	26280575, 26769223		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEEDING DISORDER, PLATELET-TYPE, 20	Platelet-type bleeding disorder	ORPHANET_DG	26280575		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEEDING DISORDER, PLATELET-TYPE, 20	Platelet-type bleeding disorder	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEEDING DISORDER, PLATELET-TYPE, 20	Platelet-type bleeding disorder	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blood Coagulation Disorders Inherited	Blood coagulation disorder	Pubtator	40464691	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet-type bleeding disorder	GENOMICS_ENGLAND_DG	26769223		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	37041648	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	37041648	Associate	★☆☆☆☆ Found in Text Mining only
Leishmaniasis Visceral	Visceral leishmaniasis	Pubtator	32361248	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36090985	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	37041648, 40464691	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)