SLFN14 - schlafen family member 14 Gene

Homo sapiens

Also known as BDPLT20

Gene ID: 342618 | Gene type: protein coding

About SLFN14

Cytogenetic location: 17q12 Genomic coordinates (GRCh38): 17:35,543,985-35,560,819 (from NCBI)

This gene has 2 transcripts (splice variants), 114 orthologues, 6 paralogues and is associated with 2 phenotypes. Biased expression in bone marrow (RPKM 1.6), spleen (RPKM 0.3) and 6 other tissues.

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]

SLFN14 Products(1)

mRNA	Protein	Name
NM_001129820.2	NP_001123292.1	protein SLFN14

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables RNA endonuclease activity	IDA IDA: Inferred from direct assay	25996083	GOA
enables ribosome binding	IDA IDA: Inferred from direct assay	25996083	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mRNA catabolic process	IDA IDA: Inferred from direct assay	25996083	GOA
involved in platelet maturation	IMP IMP: Inferred from mutant phenotype	26769223	GOA
involved in rRNA catabolic process	IDA IDA: Inferred from direct assay	25996083	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	26280575	GOA
located in nucleus	IDA IDA: Inferred from direct assay	25996083	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLFN14 Protein Structure

AlbA_2

0
200
400
600
800
912 a.a.

Protein Preferred Names

Protein Names

protein SLFN14

Related Diseases

Diseases

Alias

Bleeding Disorder, Platelet-Type, 20

Platelet-Type Bleeding Disorder 20	BDPLT20
Autosomal Dominant Thrombocytopenia With Platelet Secretion Defect

Thrombocytopenia

Low Platelet Count	Low Platelets
Decreased Platelets	Platelet Dysfunction Nos

Sialuria

Sialuria, French Type	French Type Sialuria
Sialuria French Type	Sialic Acid Storage Disease
Sialic Acid Storage Disease, Finnish Type	Infantile Sialic Acid Storage Disease

Bleeding Disorder, Platelet-Type, 18

Platelet-Type Bleeding Disorder 18	BDPLT18
Bleeding Disorder Due To Calcium- And Dag-Regulated Guanine Exchange Factor-1 Deficiency	Bleeding Disorder Due To Caldag-Gefi Deficiency
Bleeding Disorder, Platelet Type 18

Amegakaryocytic Thrombocytopenia, Congenital

Congenital Amegakaryocytic Thrombocytopenia	CAMT
Thrombocytopenia, Congenital Amegakaryocytic	Congenital Amegakaryocytic Thrombocytopenic Purpura
Thrombocytopenia Congenital Amegakaryocytic	Thrombocytopenia, Amegakaryocytic, Congenital

Myh-9 Related Disease

Myh9-Related Disease	Myh9-Rd
Myh9-Related Disorder	Myh9-Related Syndrome
Myh9-Related Syndromic Thrombocytopenia	Sebastian Syndrome

Stormorken Syndrome

Thrombocytopathy, Asplenia, And Miosis	Stormorken-Sjaastad-Langslet Syndrome
STRMK	York Platelet Syndrome
Yps	Thrombocytopathy, Asplenia And Miosis
Thrombocytopathy Asplenia Miosis	Thrombocytopathy-Asplenia-Miosis Syndrome
Miosis Disorder

Bernard-Soulier Syndrome

Giant Platelet Syndrome	BSS
Von Willebrand Factor Receptor Deficiency	Bdplt1
Platelet Glycoprotein Ib Deficiency	Bernard-Soulier Syndrome, Type A1
Bernard-Soulier Syndrome, Type B	Bernard Soulier Syndrome
Deficiency Of Platelet Glycoprotein 1b	Hemorrhagiparous Thrombocytic Dystrophy
Bernard-Soulier Syndrome Type C	Bleeding Disorder, Platelet-Type, 1
Glycoprotein Ib, Platelet, Deficiency Of	Giant Platelet Disorder, Isolated
Giant Platelet Disease	Macrothrombocytopenia, Familial Bernard-Soulier Type
Bernard-Soulier Syndrome, Type C	Bernard - Soulier Thrombopathy
Hemorrhagic Dystrophic Thrombocytopenia	Thrombopathy, Bernard-Soulier
Platelet Glycoprotein 1b, Deficiency Of	Hemorrhagioparous Thrombocytic Dystrophy
Bernard-Soulier Syndrome Type A1	Bernard-Soulier Syndrome Type B
Bleeding Disorder Platelet-Type 1	Gpd
Macrothrombocytopenia, Familial, Bernard-Soulier Type

Sitosterolemia

Phytosterolemia	Beta-Sitosterolemia
Plant Sterol Storage Disease	Phytosterolæmia
Sitosterolæmia	Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body
Phytosterolaemia	Sitosterolaemia
Sitosterolemia With Xanthomatosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13367	SLFN14 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SLFN14	VGNC	VGNC:58413
Canis familiaris	SLFN14	VGNC	VGNC:53152
Rattus norvegicus	SLFN14	RGD	RGD:1561538
Macaca mulatta	SLFN14	VGNC	VGNC:99260
Mus musculus	SLFN14	MGD	MGI:2684866

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