NBEAL2 - neurobeachin like 2 Gene

Also Known as GPS; BDPLT4

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 23218

About NBEAL2

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:46,979,666-47,009,701 (from NCBI)

This gene has 17 transcripts (splice variants), 194 orthologues, 7 paralogues and is associated with 2 phenotypes. Broad expression in bone marrow (RPKM 26.4), esophagus (RPKM 17.9) and 23 other tissues.

Summary

The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011]

NBEAL2 Products (2)

mRNA	Protein	Name
NM_001365116.2	NP_001352045.1	neurobeachin-like protein 2 isoform 2
NM_015175.3	NP_055990.1	neurobeachin-like protein 2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	29187380	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in platelet formation	IMP IMP: Inferred from mutant phenotype	21765411	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	21765412	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

NBEAL2 Protein Structure

Laminin_G_3

PH_BEACH

Beach

WD40

0
500
1000
1500
2000
2500
2754 a.a.

Protein Preferred Names	Protein Names
neurobeachin-like protein 2

NBEAL2 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	NBEAL2	Q6ZNJ1	VAC14	Homo sapiens	Q08AM6	Anti Tag CoIP	29187380
Intra	NBEAL2	Q6ZNJ1	VAC14	Homo sapiens	Q08AM6	TAP	29187380
Intra	NBEAL2	Q6ZNJ1	VAC14	Homo sapiens	Q08AM6	PLA	29187380
Intra	NBEAL2	Q6ZNJ1	VAC14	Homo sapiens	Q08AM6	Anti Bait CoIP	29187380
Intra	NBEAL2	Q6ZNJ1	DOCK7	Homo sapiens	Q96N67	PLA	29187380
Intra	NBEAL2	Q6ZNJ1	DOCK7	Homo sapiens	Q96N67	Anti Tag CoIP	29187380
Intra	NBEAL2	Q6ZNJ1	DOCK7	Homo sapiens	Q96N67	TAP	29187380
Intra	NBEAL2	Q6ZNJ1	SEC16A	Homo sapiens	O15027	Anti Tag CoIP	29187380
Intra	NBEAL2	Q6ZNJ1	SEC16A	Homo sapiens	O15027	TAP	29187380

Cross: Cross-species interaction Intra: Intraspecies interaction

NBEAL2 抗体

製品番号	製品名	アプリケーション	反応性
HY-P86292	NBEAL2 Antibody (YA5984)	WB	Human

関連疾患

Diseases	Alias
Gray Platelet Syndrome	Platelet Alpha-Granule Deficiency GPS Bdplt4 Bleeding Disorder, Platelet-Type, 4 Grey Platelet Syndrome Platelet-Type Bleeding Disorder 4 Marked Decrease Or Absence Of Alpha-Granules And Of Platelet-Specific Alpha-Granule Proteins Deficient Alpha Granule Syndrome Platelet Alpha Granule Deficiency Platelet Granule Defect Alpha Storage Pool Deficiency Bleeding Disorder Platelet-Type 4
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos
Bleeding Disorder, Platelet-Type, 17	Platelet-Type Bleeding Disorder 17 BDPLT17 Thrombasthenia-Thrombocytopenia, Hereditary Hereditary Thrombasthenia-Thrombocytopenia Autosomal Dominant Macrothrombocytopenia Gfi1b-Related Autosomal Dominant Platelet Disorder Gfi1b-Related Bleeding Disorder, Platelet Type 17
Thrombocytopenia With Beta-Thalassemia, X-Linked	XLTT Thrombocytopenia, Platelet Dysfunction, Hemolysis, And Imbalanced Globin Synthesis Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome Gata1-Related X-Linked Cytopenia X-Linked Thrombocytopenia With Beta-Thalassemia Thrombocytopenia Platelet Dysfunction Hemolysis And Imbalanced Globin Synthesis
Amegakaryocytic Thrombocytopenia, Congenital	Congenital Amegakaryocytic Thrombocytopenia CAMT Thrombocytopenia, Congenital Amegakaryocytic Congenital Amegakaryocytic Thrombocytopenic Purpura Thrombocytopenia Congenital Amegakaryocytic Thrombocytopenia, Amegakaryocytic, Congenital
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
Bleeding Disorder, Platelet-Type, 8	Bleeding Disorder Due To P2ry12 Defect Platelet-Type Bleeding Disorder 8 BDPLT8 Adp Platelet Receptor P2y12 Defect P2y12 Defect Bleeding Disorder Due To Adp Platelet Receptor P2y12 Defect Bleeding Disorder Due To P2y12 Defect Bleeding Disorder Due To P2rx1 Defect, Somatic Bleeding Disorder, Platelet-Type 8 Adp Platelet Receptor P2y12 Deficiency P2ry12 Deficiency P2y12 Deficiency Bleeding Disorder, Platelet Type 8
Pseudo-Von Willebrand Disease	Bdplt3 Von Willebrand Disease, Platelet-Type VWDP Platelet-Type Bleeding Disorder 3 Platelet Type-Von Willebrand Disease Pt-Vwd Von Willebrand Disease Platelet-Type Von Willebrand Disease, Platelet Type Pseudo Von Willebrand Disease Bleeding Disorder, Platelet-Type, 3 Pseudo-Von Willebrand Disease Type 2b Bleeding Disorder Platelet-Type 3 Pseudo-Vwd
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
Chediak-Higashi Syndrome	CHS Chédiak-Higashi Syndrome Chediak - Steinbrinck Anomaly Chediak Higashi Syndrome Chediak-Steinbrinck-Higashi Syndrome Oculocutaneous Albinism With Leukocyte Defect Chediak-Higashi Disease Chediak-Higashi-Steinbrink Syndrome
Myh-9 Related Disease	Myh9-Related Disease Myh9-Rd Myh9-Related Disorder Myh9-Related Syndrome Myh9-Related Syndromic Thrombocytopenia Sebastian Syndrome
Thrombocytopenia-Absent Radius Syndrome	Tar Syndrome Radial Aplasia-Thrombocytopenia Syndrome Absent Radii And Thrombocytopenia TAR Chromosome 1q21.1 Deletion Syndrome, 200-Kb Thrombocytopenia Absent Radius Syndrome Thrombocytopenia Absent Radii Chromosome 1q21.1 Deletion Syndrome Thrombocytopenia With Absent Radii Syndrome Radial Aplasia-Amegakaryocytic Thrombocytopenia
Acquired Thrombocytopenia	Secondary Thrombocytopenia
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Arc Syndrome ARCS1 Arthrogryposis Renal Dysfunction Cholestasis Syndrome Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome Arcs Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome Arthrogryposis, Renal Dysfunction, And Cholestasis Arthrogryposis-Renal Dysfunction-Cholestasis Arthrogryposis - Renal Dysfunction - Cholestasis Arthrogryposis Multiplex Congenita, Renal Dysfunction, And Cholestasis Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome 1 Arthrogryposis Renal Dysfunction And Cholestasis 1 Arthrogryposis With Renal Dysfunction And Cholestasis Syndrome Arthrogryposis, Renal Dysfunction, Cholestasis, Type 1 Kidney Failure Renal Insufficiency
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
Jacobsen Syndrome	Chromosome 11q Deletion Syndrome Partial 11q Monosomy Syndrome Jacobsen Distal 11q Deletion Syndrome JBS 11q Partial Monosomy Syndrome Chromosome 11q Deletion 11q Deletion 11q Monosomy Deletion 11q Monosomy 11q Partial Monosomy 11q 11q Deletion Disorder 11q Deletion Syndrome 11q Terminal Deletion Disorder 11q- Deletion Syndrome 11q23 Deletion Disorder Jacobsen Thrombocytopenia 11q Terminal Deletion Syndrome Del(11)(Q23.3) Del(11)(Qter) Distal Deletion 11q Distal Monosomy 11q Monosomy 11qter Telomeric Deletion 11q Paris-Trousseau Thrombocytopenia
Radioulnar Synostosis	Radio-Ulnar Synostosis Type 1
Glanzmann Thrombasthenia 1	Glanzmann Thrombasthenia Thrombasthenia Of Glanzmann And Naegeli Glanzmann'S Thrombasthenia Bdplt2 Platelet Glycoprotein Iib-Iiia Deficiency Deficiency Of Platelet Fibrinogen Receptor GT1 Gt Platelet Fibrinogen Receptor Deficiency Glycoprotein Complex Iib-Iiia Deficiency Deficiency Of Glycoprotein Complex Iib-Iiia Glycoprotein Iib/Iiia Defect Glanzmann Thrombasthenia, Type A Thrombasthenia Bleeding Disorder, Platelet-Type, 2 Gp Iib-Iiia Complex Deficiency Deficiency Of Gp Iib-Iiia Complex Platelet-Type Bleeding Disorder 2 Thrombocytasthenia Deficiency Of Gp 2b 3a Complex Diacyclothrombopathia 2b 3a Glanzmann Thrombasthenia Type A Platelet Fibrinogen Receptor, Deficiency Of Platelet Glycoprotein 2b 3a Deficiency Glanzmann Disease Glanzmann-Naegeli Disorder Hereditary Hemorrhagic Thrombasthenia Hereditary Thrombasthenia Bleeding Disorder Platelet-Type 2
Blood Platelet Disease	Platelet Disorder Blood Platelet Disorders Thrombocytopathy Platelet Dysfunction Platelet Disorders Qualitative Platelet Deficiency
Hermansky-Pudlak Syndrome	Hps Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells Hermanski-Pudlak Syndrome Hermansky Pudlak Syndrome Platelet Storage Pool Deficiency

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-RS09055	NBEAL2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Canis familiaris	NBEAL2	VGNC	VGNC:58319
Felis catus	NBEAL2	VGNC	VGNC:63730
Macaca mulatta	NBEAL2	VGNC	VGNC:75059
Mus musculus	NBEAL2	MGD	MGI:2448554
Rattus norvegicus	NBEAL2	RGD	RGD:1306501
Others	NBEAL2	NCBI