InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NBEAL2

Summary

InnateDB Protein

IDBP-374965.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NBEAL2

Protein Name

neurobeachin-like 2

Synonyms

BDPLT4; GPS;

Species

Homo sapiens

Ensembl Protein

ENSP00000415034

InnateDB Gene

IDBG-31057 (NBEAL2)

Protein Structure

UniProt Annotation

Function

Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules, that contain several growth factors important for platelet biogenesis. {ECO:0000269PubMed:21765411, ECO:0000269PubMed:21765412}.

Subcellular Localization

Endoplasmic reticulum {ECO:0000269PubMed:21765412}.

Disease Associations

Gray platelet syndrome (GPS) [MIM:139090]: A rare platelet disorder characterized by a selective deficiency in the number and contents of platelet alpha-granules. It is associated with mild to moderate bleeding tendency and moderate thrombocytopenia. The platelets are enlarged and have a gray appearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules. {ECO:0000269PubMed:21765411, ECO:0000269PubMed:21765412, ECO:0000269PubMed:21765413}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in megakaryocytes. {ECO:0000269PubMed:21765411}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005488	binding
GO:0005515	protein binding

Biological Process

GO:0007596	blood coagulation
GO:0030220	platelet formation
GO:0035855	megakaryocyte development
GO:0042060	wound healing
GO:0070889	platelet alpha granule organization

Cellular Component

GO:0005783	endoplasmic reticulum
GO:0016020	membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000409 BEACH domain
IPR001680 WD40 repeat
IPR008985 Concanavalin A-like lectin/glucanases superfamily
IPR016024 Armadillo-type fold
IPR017986 WD40-repeat-containing domain

PFAM

PF02138
PF00400

PRINTS

PIRSF

SMART

SM01026
SM00320

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q6ZNJ1