SLFN14 - schlafen family member 14 Gene

Also Known as BDPLT20

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 342618

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 参考文献 由来
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 参考文献 由来
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 参考文献 由来
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

AlbA_2: Putative DNA-binding domain (206 - 335)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 912 a.a.
Protein Preferred Names Protein Names

protein SLFN14

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS13367 SLFN14 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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
Others SLFN14 NCBI