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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormal bleeding	Likely pathogenic; Pathogenic	rs869320714, rs2072671208	RCV001003915 RCV001270499
Platelet-type bleeding disorder 20	Likely pathogenic; Pathogenic	rs869320714, rs869320716, rs757188030	RCV000210921 RCV000210920 RCV000210922
Thrombocytopenia	Likely pathogenic; Pathogenic	rs869320714, rs2072671208	RCV001003915 RCV001270499

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Familial cancer of breast	Benign	rs321614	RCV005923413
Gastric cancer	Benign	rs321614	RCV005923414
SLFN14-related disorder	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs10512472, rs369307237, rs1259424677, rs373686913, rs768191104, rs376832252, rs750933604, rs1001441, rs563158300, rs28498569, rs78364481, rs199663871, rs934418058, rs73992856, rs192498365, rs145261252, rs148469524, rs1283901877	RCV003968561 RCV004754939 RCV003410304 RCV003966323 RCV003405922 RCV003909340 RCV003929763 RCV003974625 RCV003906978 RCV003979610 RCV003919565 RCV003936996 RCV003934081 RCV004754648 RCV003950679 RCV003932836 RCV003923200 RCV003960474

Associations from Text Mining
Disease Name	Relationship Type	References
Blood Coagulation Disorders Inherited	Associate	40464691
Blood Platelet Disorders	Associate	37041648
Hemorrhage	Associate	37041648
Leishmaniasis Visceral	Associate	32361248
Stomach Neoplasms	Associate	36090985
Thrombasthenia Thrombocytopenia Hereditary	Associate	37041648
Thrombocytopenia	Associate	37041648, 40464691