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Entry version 152 (29 Sep 2021)
Sequence version 2 (20 May 2008)
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Protein

Neurobeachin-like protein 2

Gene

NBEAL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules, that contain several growth factors important for platelet biogenesis.

2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • protein kinase binding Source: GO_Central

GO - Biological processi

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q6ZNJ1

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6798695, Neutrophil degranulation

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q6ZNJ1

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q6ZNJ1

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Neurobeachin-like protein 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NBEAL2
Synonyms:KIAA0540
ORF Names:UNQ253/PRO290
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:31928, NBEAL2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
614169, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6ZNJ1

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000160796

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Endoplasmic reticulum

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Gray platelet syndrome (GPS)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_066976388L → P in GPS. 2 PublicationsCorresponds to variant dbSNP:rs387907113EnsemblClinVar.1
Natural variantiVAR_066977643E → V in GPS. 1 PublicationCorresponds to variant dbSNP:rs387907114EnsemblClinVar.1
Natural variantiVAR_066978677W → R in GPS. 1 Publication1
Natural variantiVAR_0669801833E → K in GPS. 1 PublicationCorresponds to variant dbSNP:rs1341020147Ensembl.1
Natural variantiVAR_0669811839R → C in GPS. 1 PublicationCorresponds to variant dbSNP:rs750160418Ensembl.1
Natural variantiVAR_0669822100P → L in GPS. 1 PublicationCorresponds to variant dbSNP:rs387907115EnsemblClinVar.1
Natural variantiVAR_0669832263H → Y in GPS. 1 PublicationCorresponds to variant dbSNP:rs1357067113Ensembl.1
Natural variantiVAR_0669842269S → L in GPS. 1 PublicationCorresponds to variant dbSNP:rs749896920Ensembl.1

Organism-specific databases

DisGeNET

More...
DisGeNETi
23218

MalaCards human disease database

More...
MalaCardsi
NBEAL2
MIMi139090, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000160796

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
721, Gray platelet syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA128394612

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q6ZNJ1, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
NBEAL2

Domain mapping of disease mutations (DMDM)

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DMDMi
189030821

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003332541 – 2754Neurobeachin-like protein 2Add BLAST2754

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1647PhosphoserineCombined sources1
Modified residuei1867PhosphothreonineCombined sources1
Modified residuei2739PhosphoserineCombined sources1
Modified residuei2742PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

The CPTAC Assay portal

More...
CPTACi
CPTAC-1031

Encyclopedia of Proteome Dynamics

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EPDi
Q6ZNJ1

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q6ZNJ1

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q6ZNJ1

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q6ZNJ1

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q6ZNJ1

PeptideAtlas

More...
PeptideAtlasi
Q6ZNJ1

PRoteomics IDEntifications database

More...
PRIDEi
Q6ZNJ1

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
68028 [Q6ZNJ1-1]
68029 [Q6ZNJ1-2]
68030 [Q6ZNJ1-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6ZNJ1

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q6ZNJ1

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in megakaryocytes.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000160796, Expressed in blood and 193 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q6ZNJ1, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q6ZNJ1, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000160796, Tissue enhanced (bone)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
116825, 9 interactors

Protein interaction database and analysis system

More...
IntActi
Q6ZNJ1, 136 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000415034

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q6ZNJ1, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q6ZNJ1

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1915 – 2040BEACH-type PHPROSITE-ProRule annotationAdd BLAST126
Domaini2053 – 2345BEACHPROSITE-ProRule annotationAdd BLAST293
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati2386 – 2424WD 1Add BLAST39
Repeati2448 – 2491WD 2Add BLAST44
Repeati2494 – 2531WD 3Add BLAST38
Repeati2544 – 2582WD 4Add BLAST39
Repeati2589 – 2631WD 5Add BLAST43
Repeati2639 – 2674WD 6Add BLAST36
Repeati2682 – 2717WD 7Add BLAST36

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1298 – 1338DisorderedSequence analysisAdd BLAST41
Regioni1364 – 1438DisorderedSequence analysisAdd BLAST75

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1303 – 1327Pro residuesSequence analysisAdd BLAST25
Compositional biasi1364 – 1387Polar residuesSequence analysisAdd BLAST24
Compositional biasi1404 – 1438Polar residuesSequence analysisAdd BLAST35

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the WD repeat neurobeachin family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1787, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000158454

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6ZNJ1

Identification of Orthologs from Complete Genome Data

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OMAi
MNVLMAC

Database of Orthologous Groups

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OrthoDBi
101142at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q6ZNJ1

TreeFam database of animal gene trees

More...
TreeFami
TF323165

Family and domain databases

Conserved Domains Database

More...
CDDi
cd06071, Beach, 1 hit
cd01201, PH_BEACH, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.1540.10, 1 hit
2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR016024, ARM-type_fold
IPR000409, BEACH_dom
IPR036372, BEACH_dom_sf
IPR013320, ConA-like_dom_sf
IPR031570, DUF4704
IPR026916, NBEAL2
IPR023362, PH-BEACH_dom
IPR011993, PH-like_dom_sf
IPR001680, WD40_repeat
IPR036322, WD40_repeat_dom_sf

The PANTHER Classification System

More...
PANTHERi
PTHR13743:SF111, PTHR13743:SF111, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02138, Beach, 1 hit
PF15787, DUF4704, 1 hit
PF14844, PH_BEACH, 1 hit
PF00400, WD40, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01026, Beach, 1 hit
SM00320, WD40, 3 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48371, SSF48371, 1 hit
SSF49899, SSF49899, 1 hit
SSF50978, SSF50978, 1 hit
SSF81837, SSF81837, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50197, BEACH, 1 hit
PS51783, PH_BEACH, 1 hit
PS50082, WD_REPEATS_2, 2 hits
PS50294, WD_REPEATS_REGION, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6ZNJ1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAASERLYEL WLLYYAQKDL GYLQQWLKAF VGAFKKSISL SSLEPRRPEE
60 70 80 90 100
AGAEVPLLPL DELHVLAEQL HQADLEQALL LLKLFIILCR NLENIEAGRG
110 120 130 140 150
QVLVPRVLAL LTKLVAELKG CPPPQGRGTQ LENVALHALL LCEGLFDPYQ
160 170 180 190 200
TWRRQRSGEV ISSKEKSKYK FPPAALPQEF SAFFQESLQN ADHLPPILLL
210 220 230 240 250
RLIHLFCAVL AGGKENGQMA VSDGSVKGLL SVVRGWSRGP APDPCLVPLA
260 270 280 290 300
LEALVGAVHV LHASRAPPRG PELRALLESY FHVLNADWPA GLSSGPEEAL
310 320 330 340 350
VTLRVSMLDA IPMMLACEDR PVLQATFLSN NCFEHLTRLI QNSKLYLQSR
360 370 380 390 400
APPEGDSDLA TRLLTEPDVQ KVLDQDTDAI AVHVVRVLTC IMSDSPSAKE
410 420 430 440 450
VFKERIGYPH LQEVLQSHGP PTHRLLQELL NMAVEGDHSM CPPPPIRNEQ
460 470 480 490 500
PVLVLAQWLP SLPTAELRLF LAQRLRWLCD SCPASRATCV QAGLVGCLLE
510 520 530 540 550
TLSTGLALEA RCQEQLLALL QALGRVSIRP MELRHLLRPR PGLDSEPGGA
560 570 580 590 600
EAGKARHAGA VIRTLSGMAR HQGPARALRY FDLTPSMAGI MVPPVQRWPG
610 620 630 640 650
PGFTFHAWLC LHPMDTAPTP APTRPLQRKQ LYSFFTSSGS GFEAFFTAAG
660 670 680 690 700
TLVVAVCTRK EYLTMSLPEV SFADSAWHCV AIVHVPGRRP FSQNLVHVYK
710 720 730 740 750
DGHLVKTAPL RCPSLSEPFS SCCIGSAGYR TTTTTTGLPT PPVPATLAYT
760 770 780 790 800
HPALTRSQSV PASTGLGWGS GLVAPLQEGS IDSTLAGTQD TRWGSPTSLE
810 820 830 840 850
GELGAVAIFH EALQATALRT LCTLGPNETA PFKPEGELHE LSTRLLLHYS
860 870 880 890 900
PQACKNNICL DLSPSHGLDG RLTGHRVETW DVKDVVNCVG GMGALLPLLE
910 920 930 940 950
RVAAQPKEAE AGPAETHDLV GPELTSGHNT QGLVLPLGKS SEERMERNAV
960 970 980 990 1000
AAFLLMLRNF LQGHMVNQES LVQCQGPAII GALLRKVPSW AMDMNVLMSA
1010 1020 1030 1040 1050
QLLMEQVAAE GSGPLLYLLY QHLLFNFHLW TLSDFAVRLG HIQYMSSIVR
1060 1070 1080 1090 1100
EHRQKLRKKY GVQFILDALR THYSPQRERP LAADDLRTVQ TSLLGLAREF
1110 1120 1130 1140 1150
LVRSLSADDV QVTQTMLSFL AATGDDGQAV GALDLLLALL HGSLVQESLA
1160 1170 1180 1190 1200
VFLLEPGNLE VLLALLVRPG SLPLLPDRVC KILRRLQQNE RLPERSRQRL
1210 1220 1230 1240 1250
RLRECGLQGL VACLPEGTVS PQLCQGLYKL FLGADCLNLS DLLAVVQLSL
1260 1270 1280 1290 1300
QADLSVRLDI CRQLFHLIYG QPDVVRLLAR QAGWQDVLTR LYVLEAATAG
1310 1320 1330 1340 1350
SPPPSSPESP TSPKPAPPKP PTESPAEPSD VFLPSEAPCP DPDGFYHALS
1360 1370 1380 1390 1400
PFCTPFDLGL ERSSVGSGNT AGGGGSSGTL TPASQPGTPS PLDGPRPFPA
1410 1420 1430 1440 1450
APGRHSSSLS NVLEDGSLPE PTISGDDTSN TSNPQQTSEE ELCNLLTNVL
1460 1470 1480 1490 1500
FSVTWRGVEG SDEAAWRERG QVFSVLTQLG ASATLVRPPD CIKRSLLEMM
1510 1520 1530 1540 1550
LESALTDIKE APVGVLASLT QQALWLLRLL QDFLCAEGHG NQELWSEKLF
1560 1570 1580 1590 1600
EGVCSLLDRL GAWPHLANGT ADLREMAQIG LRLVLGYILL EDPQLHAQAY
1610 1620 1630 1640 1650
VRLHMLLQTA VPARREEACY VLSKLEAALG RVLNTSSLES ATDEAGSPLA
1660 1670 1680 1690 1700
AAAAAAAAER CSWLVPLVRT LLDRAYEPLG LQWGLPSLPP TNGSPTFFED
1710 1720 1730 1740 1750
FQAFCATPEW RHFIDKQVQP TMSQFEMDTY AKSHDLMSGF WNACYDMLMS
1760 1770 1780 1790 1800
SGQRRQWERA QSRRAFQELV LEPAQRRARL EGLRYTAVLK QQATQHSMAL
1810 1820 1830 1840 1850
LHWGALWRQL ASPCGAWALR DTPIPRWKLS SAETYSRMRL KLVPNHHFDP
1860 1870 1880 1890 1900
HLEASALRDN LGEVPLTPTE EASLPLAVTK EAKVSTPPEL LQEDQLGEDE
1910 1920 1930 1940 1950
LAELETPMEA AELDEQREKL VLSAECQLVT VVAVVPGLLE VTTQNVYFYD
1960 1970 1980 1990 2000
GSTERVETEE GIGYDFRRPL AQLREVHLRR FNLRRSALEL FFIDQANYFL
2010 2020 2030 2040 2050
NFPCKVGTTP VSSPSQTPRP QPGPIPPHTQ VRNQVYSWLL RLRPPSQGYL
2060 2070 2080 2090 2100
SSRSPQEMLR ASGLTQKWVQ REISNFEYLM QLNTIAGRTY NDLSQYPVFP
2110 2120 2130 2140 2150
WVLQDYVSPT LDLSNPAVFR DLSKPIGVVN PKHAQLVREK YESFEDPAGT
2160 2170 2180 2190 2200
IDKFHYGTHY SNAAGVMHYL IRVEPFTSLH VQLQSGRFDC SDRQFHSVAA
2210 2220 2230 2240 2250
AWQARLESPA DVKELIPEFF YFPDFLENQN GFDLGCLQLT NEKVGDVVLP
2260 2270 2280 2290 2300
PWASSPEDFI QQHRQALESE YVSAHLHEWI DLIFGYKQRG PAAEEALNVF
2310 2320 2330 2340 2350
YYCTYEGAVD LDHVTDERER KALEGIISNF GQTPCQLLKE PHPTRLSAEE
2360 2370 2380 2390 2400
AAHRLARLDT NSPSIFQHLD ELKAFFAEVV SDGVPLVLAL VPHRQPHSFI
2410 2420 2430 2440 2450
TQGSPDLLVT VSASGLLGTH SWLPYDRNIS NYFSFSKDPT MGSHKTQRLL
2460 2470 2480 2490 2500
SGPWVPGSGV SGQALAVAPD GKLLFSGGHW DGSLRVTALP RGKLLSQLSC
2510 2520 2530 2540 2550
HLDVVTCLAL DTCGIYLISG SRDTTCMVWR LLHQGGLSVG LAPKPVQVLY
2560 2570 2580 2590 2600
GHGAAVSCVA ISTELDMAVS GSEDGTVIIH TVRRGQFVAA LRPLGATFPG
2610 2620 2630 2640 2650
PIFHLALGSE GQIVVQSSAW ERPGAQVTYS LHLYSVNGKL RASLPLAEQP
2660 2670 2680 2690 2700
TALTVTEDFV LLGTAQCALH ILQLNTLLPA APPLPMKVAI RSVAVTKERS
2710 2720 2730 2740 2750
HVLVGLEDGK LIVVVAGQPS EVRSSQFARK LWRSSRRISQ VSSGETEYNP

TEAR
Length:2,754
Mass (Da):302,517
Last modified:May 20, 2008 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD3DA8DBDF9BB11CC
GO
Isoform 2 (identifier: Q6ZNJ1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1129-1181: Missing.
     1235-1365: Missing.

Show »
Length:2,570
Mass (Da):282,861
Checksum:iD0E939B3A3A6089F
GO
Isoform 3 (identifier: Q6ZNJ1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2379-2408: Missing.

Show »
Length:2,724
Mass (Da):299,342
Checksum:i0A81885371102A7C
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y764H0Y764_HUMAN
Neurobeachin-like protein 2
NBEAL2
2,042Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494C1V1A0A494C1V1_HUMAN
Neurobeachin-like protein 2
NBEAL2
2,720Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C3Y7H7C3Y7_HUMAN
Neurobeachin-like protein 2
NBEAL2
1,093Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C354H7C354_HUMAN
Neurobeachin-like protein 2
NBEAL2
107Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C408H7C408_HUMAN
Neurobeachin-like protein 2
NBEAL2
255Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAC03994 differs from that shown. Aberrant splicing.Curated
The sequence BAC85154 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti79L → P in BAC03994 (PubMed:14702039).Curated1
Sequence conflicti1845N → K in AAH60874 (PubMed:15489334).Curated1
Sequence conflicti2161S → P in AAH60874 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06697586I → V in a patient with gray platelet syndrome. 1 PublicationCorresponds to variant dbSNP:rs754407148Ensembl.1
Natural variantiVAR_066976388L → P in GPS. 2 PublicationsCorresponds to variant dbSNP:rs387907113EnsemblClinVar.1
Natural variantiVAR_043133447R → H. Corresponds to variant dbSNP:rs17079425EnsemblClinVar.1
Natural variantiVAR_043134511R → G. Corresponds to variant dbSNP:rs11720139EnsemblClinVar.1
Natural variantiVAR_066977643E → V in GPS. 1 PublicationCorresponds to variant dbSNP:rs387907114EnsemblClinVar.1
Natural variantiVAR_066978677W → R in GPS. 1 Publication1
Natural variantiVAR_066979682I → F in a patient with gray platelet syndrome. 1 PublicationCorresponds to variant dbSNP:rs773164015Ensembl.1
Natural variantiVAR_0669801833E → K in GPS. 1 PublicationCorresponds to variant dbSNP:rs1341020147Ensembl.1
Natural variantiVAR_0669811839R → C in GPS. 1 PublicationCorresponds to variant dbSNP:rs750160418Ensembl.1
Natural variantiVAR_0431351877A → G. Corresponds to variant dbSNP:rs4682830Ensembl.1
Natural variantiVAR_0431362054S → F. Corresponds to variant dbSNP:rs2305637EnsemblClinVar.1
Natural variantiVAR_0669822100P → L in GPS. 1 PublicationCorresponds to variant dbSNP:rs387907115EnsemblClinVar.1
Natural variantiVAR_0669832263H → Y in GPS. 1 PublicationCorresponds to variant dbSNP:rs1357067113Ensembl.1
Natural variantiVAR_0669842269S → L in GPS. 1 PublicationCorresponds to variant dbSNP:rs749896920Ensembl.1
Natural variantiVAR_0669852553G → E1 PublicationCorresponds to variant dbSNP:rs144664865EnsemblClinVar.1
Natural variantiVAR_0431372747E → K. Corresponds to variant dbSNP:rs12893Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0335051129 – 1181Missing in isoform 2. 1 PublicationAdd BLAST53
Alternative sequenceiVSP_0335061235 – 1365Missing in isoform 2. 1 PublicationAdd BLAST131
Alternative sequenceiVSP_0335072379 – 2408Missing in isoform 3. 1 PublicationAdd BLAST30

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK131104 mRNA Translation: BAC85154.1 Different initiation.
AC094020 Genomic DNA No translation available.
AK092871 mRNA Translation: BAC03994.1 Sequence problems.
AB011112 mRNA Translation: BAA25466.3
AY358455 mRNA Translation: AAQ88820.1
BC060874 mRNA Translation: AAH60874.2

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS46817.1 [Q6ZNJ1-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
T00271

NCBI Reference Sequences

More...
RefSeqi
NP_055990.1, NM_015175.2 [Q6ZNJ1-1]
XP_011531835.1, XM_011533533.2 [Q6ZNJ1-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000450053; ENSP00000415034; ENSG00000160796 [Q6ZNJ1-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
23218

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:23218

UCSC genome browser

More...
UCSCi
uc003cqp.4, human [Q6ZNJ1-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK131104 mRNA Translation: BAC85154.1 Different initiation.
AC094020 Genomic DNA No translation available.
AK092871 mRNA Translation: BAC03994.1 Sequence problems.
AB011112 mRNA Translation: BAA25466.3
AY358455 mRNA Translation: AAQ88820.1
BC060874 mRNA Translation: AAH60874.2
CCDSiCCDS46817.1 [Q6ZNJ1-1]
PIRiT00271
RefSeqiNP_055990.1, NM_015175.2 [Q6ZNJ1-1]
XP_011531835.1, XM_011533533.2 [Q6ZNJ1-3]

3D structure databases

SMRiQ6ZNJ1
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi116825, 9 interactors
IntActiQ6ZNJ1, 136 interactors
STRINGi9606.ENSP00000415034

PTM databases

iPTMnetiQ6ZNJ1
PhosphoSitePlusiQ6ZNJ1

Genetic variation databases

BioMutaiNBEAL2
DMDMi189030821

Proteomic databases

CPTACiCPTAC-1031
EPDiQ6ZNJ1
jPOSTiQ6ZNJ1
MassIVEiQ6ZNJ1
MaxQBiQ6ZNJ1
PaxDbiQ6ZNJ1
PeptideAtlasiQ6ZNJ1
PRIDEiQ6ZNJ1
ProteomicsDBi68028 [Q6ZNJ1-1]
68029 [Q6ZNJ1-2]
68030 [Q6ZNJ1-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
62670, 48 antibodies

The DNASU plasmid repository

More...
DNASUi
23218

Genome annotation databases

EnsembliENST00000450053; ENSP00000415034; ENSG00000160796 [Q6ZNJ1-1]
GeneIDi23218
KEGGihsa:23218
UCSCiuc003cqp.4, human [Q6ZNJ1-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23218
DisGeNETi23218

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NBEAL2
HGNCiHGNC:31928, NBEAL2
HPAiENSG00000160796, Tissue enhanced (bone)
MalaCardsiNBEAL2
MIMi139090, phenotype
614169, gene
neXtProtiNX_Q6ZNJ1
OpenTargetsiENSG00000160796
Orphaneti721, Gray platelet syndrome
PharmGKBiPA128394612
VEuPathDBiHostDB:ENSG00000160796

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1787, Eukaryota
GeneTreeiENSGT00940000158454
InParanoidiQ6ZNJ1
OMAiMNVLMAC
OrthoDBi101142at2759
PhylomeDBiQ6ZNJ1
TreeFamiTF323165

Enzyme and pathway databases

PathwayCommonsiQ6ZNJ1
ReactomeiR-HSA-6798695, Neutrophil degranulation
SignaLinkiQ6ZNJ1
SIGNORiQ6ZNJ1

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
23218, 7 hits in 1019 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
NBEAL2, human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
NBEAL2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
23218
PharosiQ6ZNJ1, Tbio

Protein Ontology

More...
PROi
PR:Q6ZNJ1
RNActiQ6ZNJ1, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000160796, Expressed in blood and 193 other tissues
ExpressionAtlasiQ6ZNJ1, baseline and differential
GenevisibleiQ6ZNJ1, HS

Family and domain databases

CDDicd06071, Beach, 1 hit
cd01201, PH_BEACH, 1 hit
Gene3Di1.10.1540.10, 1 hit
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR016024, ARM-type_fold
IPR000409, BEACH_dom
IPR036372, BEACH_dom_sf
IPR013320, ConA-like_dom_sf
IPR031570, DUF4704
IPR026916, NBEAL2
IPR023362, PH-BEACH_dom
IPR011993, PH-like_dom_sf
IPR001680, WD40_repeat
IPR036322, WD40_repeat_dom_sf
PANTHERiPTHR13743:SF111, PTHR13743:SF111, 1 hit
PfamiView protein in Pfam
PF02138, Beach, 1 hit
PF15787, DUF4704, 1 hit
PF14844, PH_BEACH, 1 hit
PF00400, WD40, 2 hits
SMARTiView protein in SMART
SM01026, Beach, 1 hit
SM00320, WD40, 3 hits
SUPFAMiSSF48371, SSF48371, 1 hit
SSF49899, SSF49899, 1 hit
SSF50978, SSF50978, 1 hit
SSF81837, SSF81837, 1 hit
PROSITEiView protein in PROSITE
PS50197, BEACH, 1 hit
PS51783, PH_BEACH, 1 hit
PS50082, WD_REPEATS_2, 2 hits
PS50294, WD_REPEATS_REGION, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNBEL2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6ZNJ1
Secondary accession number(s): O60288
, Q6P994, Q6UX91, Q8NAC9
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: May 20, 2008
Last modified: September 29, 2021
This is version 152 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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