SLFN14 (schlafen family member 14)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
342618
Gene name Gene Name - the full gene name approved by the HGNC.
Schlafen family member 14
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLFN14
Synonyms (NCBI Gene) Gene synonyms aliases
BDPLT20
Disease Acronyms (UniProt) Disease acronyms from UniProt database
BDPLT20
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q12
Summary Summary of gene provided in NCBI Entrez 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]
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
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) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0004521 Function Endoribonuclease activity IBA 21873635
GO:0004521 Function Endoribonuclease activity IDA 25996083
GO:0005524 Function ATP binding IEA
GO:0005634 Component Nucleus IDA 25996083, 26280575
GO:0005737 Component Cytoplasm IDA 26280575
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614958 32689 ENSG00000236320
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Platelet-type bleeding disorder Blood Platelet Disorders, BLEEDING DISORDER, PLATELET-TYPE, 20 rs1560045738, rs70961716, rs142186404, rs121918035, rs121918444, rs760074158, rs2146873791, rs387907345, rs387907346, rs387907348, rs387907350, rs397989794, rs587777211, rs587777529, rs724159972
View all (26 more)		 26769223, 26280575
Show/Hide Text Mining Associations (7)
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