Version 5.4
Homo sapiens Gene: NBEAL2
Summary
InnateDB Gene IDBG-31057.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NBEAL2
Gene Name neurobeachin-like 2
Synonyms BDPLT4; GPS
Species Homo sapiens
Ensembl Gene ENSG00000160796
Encoded Proteins
IDBP-374965
neurobeachin-like 2
IDBP-374977
neurobeachin-like 2
IDBP-374979
neurobeachin-like 2
IDBP-374985
neurobeachin-like 2
IDBP-374989
neurobeachin-like 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:46979683-47009703
Strand Forward strand
Band p21.31
Transcripts
ENST00000450053 ENSP00000415034
ENST00000416683 ENSP00000410405
ENST00000443829 ENSP00000414560
ENST00000441027 ENSP00000409601
ENST00000423436 ENSP00000415063
ENST00000475689
ENST00000486870
ENST00000476095
ENST00000461036
ENST00000477412
ENST00000469349
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
Orthologs
Species
Mus musculus
Gene ID
Gene Order
ENSMUSG00000056724
View Gene Order
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.437043 Hs.570590
RefSeq NM_015175 XM_005264993
HUGO
OMIM
CCDS CCDS46817
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca