NBEAL2 - neurobeachin like 2 Gene

Homo sapiens

Also known as GPS; BDPLT4

Gene ID: 23218 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	29187380	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in platelet formation	IMP IMP: Inferred from mutant phenotype	21765411	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
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

Related Diseases

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09055	NBEAL2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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