1. Gene
  2. NBEAL2 - neurobeachin like 2 Gene

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

NBEAL2 Protein Structure

Laminin_G_3

Laminin_G_3: Concanavalin A-like lectin/glucanases superfamily (588 - 816)

PH_BEACH

PH_BEACH: PH domain associated with Beige/BEACH (1919 - 2003)

Beach

Beach: Beige/BEACH domain (2065 - 2345)

WD40

WD40: WD domain, G-beta repeat (2492 - 2529)

WD40

WD40: WD domain, G-beta repeat (2544 - 2579)

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  • 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

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