NBEAL2 Gene
protein-coding GIFtS: 47
GCID: GC03P046996
|
|
neurobeachin-like 2
| |
Aliases
for NBEAL2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Neurobeachin-Like 21 2 | | KIAA05401 3 | | BDPLT42 | | GPS2 | | Neurobeachin-Like Protein 22 |
Export aliases for NBEAL2 gene to outside databases |
Summaries
for NBEAL2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for NBEAL2:
The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and mayplay a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome.(provided by RefSeq, Dec 2011)
UniProtKB/Swiss-Prot: NBEL2_HUMAN, Q6ZNJ1Function: Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules, thatcontain several growth factors important for platelet biogenesis
Gene Wiki entry for NBEAL2
|
Genomic Views
for NBEAL2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_022517.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the NBEAL2 gene promoter:
Max1 NF-1 MyoD Lmo2 Nkx2-5 NF-kappaB c-Ets-1 CP2 NF-kappaB1 c-Myc
Other transcription factors
Search SABiosciences Chromatin IP Primers for NBEAL2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NBEAL2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3p21.31 Ensembl cytogenetic band: 3p21.31 HGNC cytogenetic band: 3p21.31NBEAL2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03P046996: view genomic region
(about GC identifiers)
Start:
|
47,021,173 bp from pter |
End:
|
47,051,193 bp from pter |
Size:
|
30,021 bases |
Orientation:
|
plus strand |
|
Proteins
for NBEAL2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: NBEL2_HUMAN, Q6ZNJ1 (See
protein sequence)Recommended Name: Neurobeachin-like protein 2 Size: 2754 amino acids; 302517 Da
Subcellular location: Endoplasmic reticulum
Sequence caution: Sequence=BAC03994.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; Sequence=BAC85154.1;Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: O60288 Q6P994 Q6UX91 Q8NAC9Alternative splicing: 3 isoforms: Q6ZNJ1-1 Q6ZNJ1-2 Q6ZNJ1-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for NBEAL2: NX_Q6ZNJ1
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q6ZNJ1
NBEAL2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_055990.1
ENSEMBL proteins: ENSP00000415034 ENSP00000410405 ENSP00000414560 ENSP00000409601 ENSP00000415063 ENSP00000292309 ENSP00000373246
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005783 | endoplasmic reticulum |
IDA | -- |
NBEAL2 for ontologies About GeneDecksing
NBEAL2 Antibody Products:
Assay Products for NBEAL2: |
Protein
Domains /
Families
for NBEAL2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
NBEAL2 for domains About GeneDecksing
5/8 InterPro domains/families (see all 8):Graphical View of Domain Structure for InterPro Entry Q6ZNJ1ProtoNet protein and cluster: Q6ZNJ1 1 Blocks protein family: IPB000409 Beige/BEACH domain
UniProtKB/Swiss-Prot: NBEL2_HUMAN, Q6ZNJ1Similarity: Belongs to the WD repeat neurobeachin familySimilarity: Contains 1 BEACH domainSimilarity: Contains 5 WD repeats |
Function
for NBEAL2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: NBEL2_HUMAN, Q6ZNJ1Function: Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules, thatcontain several growth factors important for platelet biogenesis
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NBEAL2 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NBEAL2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: NBEAL2 (NM_015175) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for NBEAL2 | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat NBEAL2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NBEAL2 |
Animal Models:
Mouse knock-out Nbeal2tm1Lex for NBEAL2
1 MGI phenotypic allele  for Nbeal2 (no phenotypes)
NBEAL2 for phenotypes About GeneDecksing
|
Pathways & Interactions
for NBEAL2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NBEAL2
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
1 Interacting protein for NBEAL2 (ENSP000004150344) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0030220 | platelet formation |
IMP | -- |
NBEAL2 for ontologies About GeneDecksing
|
Drugs & Compounds
for NBEAL2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for NBEAL2
Search CenterWatch for drugs/clinical trials and news about NBEAL2 / NBEL2
|
Transcripts
for NBEAL2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for NBEAL2 gene: NM_015175.2 Unigene Cluster for NBEAL2: Neurobeachin-like 2 Hs.437043 [show with all ESTs]Unigene Representative Sequence: NM_01517513 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000450053 ENST00000416683 ENST00000475689 ENST00000443829 ENST00000441027
ENST00000486870 ENST00000423436 ENST00000476095 ENST00000461036 ENST00000477412
ENST00000469349 ENST00000292309(uc003cqq.1 uc010hjm.2 uc010hjn.2)
ENST00000383740(uc003cqp.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NBEAL2 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NBEAL2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: NBEAL2 (NM_015175) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for NBEAL2 | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat NBEAL2 |
Additional cDNA sequence: AB011112.3 AK092871.1 AK131104.1 AK293387.1 AK301269.1 AY358455.1 BC029944.1 BC035894.1 BC060874.1 18 DOTS entries: DT.215969 DT.100818745 DT.100818742 DT.95130904 DT.100818744 DT.215970 DT.100818739 DT.120841734 DT.95369846 DT.100037017 DT.100818743 DT.120841711 DT.101975538 DT.92434392 DT.95369813 DT.95369923 DT.75132600 DT.92387987 24/295 AceView cDNA sequences (see all 295): AI989644 AI651931 AK131104 AI673191 BC029944 AI627934 CB070359 AI650589 AI631696 AI829182 CF135487 BF062492 BX282287 BU195761 AW779768 BC035894 BQ049820 AW050752 AI401569 AI147562 AI339197 BM705214 AI990376 CK430026
GeneLoc Exon Structure
5/18 Alternative Splicing Database (ASD) splice patterns (SP) for NBEAL2 (see all 18) About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | · | 14c | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ |
|---|
|
| SP1: | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28a | · | 28b | ^ | 29a | · | 29b | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33a | · | 33b | · | 33c | ^ | 34 | ^ | 35a | · | 35b | ^ | 36 | ^ | 37 | ^ | 38a | · | 38b | ^ | 39a | · | 39b | ^ | 40a | · | 40b | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | |
| SP2: | | | | | - | | | | - | | - | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 41 | ^ | 42a | · | 42b | ^ | 43a | · | 43b | ^ | 44a | · | 44b | ^ | 45a | · | 45b | ^ | 46 | ^ | 47 | ^ | 48a | · | 48b | · | 48c | ^ | 49a | · | 49b | · | 49c | ^ | 50 | ^ | 51a | · | 51b | ^ | 52a | · | 52b | ^ | 53a | · | 53b | ^ | 54a | · | 54b | ^ |
|---|
|
| SP1: | - | | - | | | | | | | | | | | | | | | | | | | | - | | | | - | | - | | | | | | | | - | | | | - | | | | | | | | | | | | |
| SP2: | - | | - | | | | | | | | | | | | | | | | | | | | - | | | | - | | - | | | | | | | | - | | | | - | | | | | | | | | | | | |
| SP3: | - | | - | | | | | | | | | | | | | | | | | | | | - | | | | - | | - | | - | | - | | | | - | | | | - | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 55 | ^ | 56 | ^ | 57a | · |
|---|
|
| SP1: | | | | | | | |
| SP2: | | | | | | | |
| SP3: | | | | | | | |
| SP4: | | | | | | | |
| SP5: | | | | | | |
ECgene alternative splicing isoforms for NBEAL2
|
Expression
for NBEAL2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| NBEAL2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGGTGGCCA
About this image
See NBEAL2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NBEAL2
SOURCE GeneReport for Unigene cluster: Hs.437043
UniProtKB/Swiss-Prot: NBEL2_HUMAN, Q6ZNJ1Tissue specificity: Expressed in megakaryocytes
SABiosciences Custom PCR Arrays for NBEAL2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NBEAL2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NBEAL2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NBEAL2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NBEAL2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NBEAL2 |
Orthologs
for NBEAL2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for NBEAL2 gene from 7/20 species (see all 20) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
NBEAL21 |
neurobeachin-like 2 |
67.82(n)
64.87(a) |
|
425984 XM_423664.3 XP_423664.3 |
lizard
(Anolis carolinensis) |
Reptilia |
NBEAL26 |
-- |
77(a) |
1 ↔ 1 |
GL344345.1(35618-57544) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.117802 |
Xenopus laevis transcribed sequence with weak similarity to protein pirA43289 (H.sapiens) A43289 CDC4L protein - human (fragment) less |
75.59(n) |
|
AW158621.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
nbeal21 |
neurobeachin-like 2 |
60.2(n)
57.17(a) |
|
100330830 XM_003200162.1 XP_003200210.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG433676 |
-- |
30(a) |
1 → many |
3L(4193993-4224003) |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT2G455406AT3G609206 |
uncharacterized protein |
13(a)12(a) |
many ↔ manymany ↔ many |
2(18757489-18772831) 3(22503328-22513031) |
rice
(Oryza sativa) |
Liliopsida |
---- |
beige/BEACH domain containing protein, expressed |
17(a)12(a) |
many ↔ manymany ↔ many |
2(26861140-26874624) 4(27614514-27630300) |
ENSEMBL Gene Tree for NBEAL2 (if available)
TreeFam Gene Tree for NBEAL2 (if available) |
Paralogs
for NBEAL2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for NBEAL2 gene
- NSMAF2 LYST2 LRBA2 NBEAL12 WDFY42 NBEA2 WDFY32
6 SIMAP similar genes for NBEAL2 using alignment to 5 protein entries: NBEL2_HUMAN (see all proteins):FLJ00082 LRBA NBEAL1 WDFY3 NBEA DKFZp686K03100
NBEAL2 for paralogs About GeneDecksing
|
Genomic Variants
for NBEAL2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for NBEAL2 (47021173 - 47051193 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for NBEAL2: --
Human Gene Mutation Database (HGMD): NBEAL2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NBEAL2 |
|
Disorders
/ Diseases
for NBEAL2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
NBEAL2 for disorders About GeneDecksing
OMIM gene information: 614169
OMIM disorders: --
UniProtKB/Swiss-Prot: NBEL2_HUMAN, Q6ZNJ1
Defects in NBEAL2 are the cause of gray platelet syndrome (GPS) [MIM:139090]. GPS is a rare platelet disordercharacterized by a selective deficiency in the number and contents of platelet alpha-granules. It is associated withmild to moderate bleeding tendency and moderate thrombocytopenia. The platelets are enlarged and have a grayappearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules
3  diseases for NBEAL2: About MalaCardsgray platelet syndrome schizophrenia malaria
Human Genome Epidemiology (HuGE) Navigator: NBEAL2 (1 document)
Export disorders for NBEAL2 gene to outside databases
|
Publications
for NBEAL2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for NBEAL2 gene, integrated from 9 sources (see all 18):
(articles sorted by number of sources associating them with NBEAL2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules. (PubMed id 21765412)1, 2 Gunay-Aygun M.... Gahl W.A. (2011)
- Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. (PubMed id 21765413)1, 2 Kahr W.H.... Di Paola J. (2011)
- Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. (PubMed id 21765411)1, 2 Albers C.A.... Ouwehand W.H. (2011)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
- Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2 Nagase T....Ohara O. (1998)
- Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. (PubMed id 19367581)1 So H.C....Sham P.C. (2009)
- Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
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External Searches for NBEAL2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing NBEAL2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing NBEAL2 gene
(According to HUGE)
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Specialized Databases showing NBEAL2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for NBEAL2 | Pharmacogenomics, SNPs, Pathways |
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| Patent Information for NBEAL2 gene:
Search GeneIP for patents involving NBEAL2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for NBEAL2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | Browse OriGene Antibodies | | Browse OriGene shRNA RFPs | | | Browse OriGene 29mer shRNA kits in GFP-retroviral vector | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NBEAL2 | | | OriGene Protein Over-expression Lysate for NBEAL2 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for NBEAL2 | | OriGene 3'-UTR Clone for NBEAL2 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NBEAL2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NBEAL2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for NBEAL2 | | OriGene Custom Protein Services for NBEAL2 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat NBEAL2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NBEAL2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NBEAL2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NBEAL2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NBEAL2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NBEAL2 |
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| | | | Search Tocris compounds for NBEAL2 |
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 | | | NBEAL2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NBEAL2 |
|  |  |  | | | | Search ThermoFisher Antibodies for NBEAL2 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat NBEAL2 |
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