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Entry version 161 (31 Jul 2019)
Sequence version 2 (30 Nov 2010)
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Protein

Syntaxin-binding protein 2

Gene

STXBP2

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

Involved in intracellular vesicle trafficking and vesicle fusion with membranes. Contributes to the granule exocytosis machinery through interaction with soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) proteins that regulate membrane fusion. Regulates cytotoxic granule exocytosis in natural killer (NK) cells.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

GO - Biological processi

<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>Keywordsi

Biological processExocytosis, Protein transport, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-114608 Platelet degranulation
R-HSA-449836 Other interleukin signaling

SIGNOR Signaling Network Open Resource

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SIGNORi
Q15833

<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:
Syntaxin-binding protein 2
Alternative name(s):
Protein unc-18 homolog 2
Short name:
Unc18-2
Protein unc-18 homolog B
Short name:
Unc-18B
<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:STXBP2
Synonyms:UNC18B
<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 19

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:11445 STXBP2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
601717 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q15833

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<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

Familial hemophagocytic lymphohistiocytosis 5 (FHL5)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia.
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_063814209L → P in FHL5. 1 PublicationCorresponds to variant dbSNP:rs121918541EnsemblClinVar.1
Natural variantiVAR_063815232Missing in FHL5; leads to a complete loss of the ability to interact with STX11. 1 Publication1
Natural variantiVAR_063816292R → H in FHL5; leads to a complete loss of the ability to interact with STX11. 1 PublicationCorresponds to variant dbSNP:rs746897867Ensembl.1
Natural variantiVAR_063817405R → Q in FHL5; leads to a complete loss of the ability to interact with STX11. 1 PublicationCorresponds to variant dbSNP:rs773360200EnsemblClinVar.1
Natural variantiVAR_063818405R → W in FHL5; leads to a complete loss of the ability to interact with STX11. 1 PublicationCorresponds to variant dbSNP:rs769717341Ensembl.1
Natural variantiVAR_063819477P → L in FHL5; leads to a complete loss of the ability to interact with STX11. 2 PublicationsCorresponds to variant dbSNP:rs121918540EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
6813

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
STXBP2

MalaCards human disease database

More...
MalaCardsi
STXBP2
MIMi613101 phenotype

Open Targets

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OpenTargetsi
ENSG00000076944

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

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Orphaneti
540 Familial hemophagocytic lymphohistiocytosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA36242

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
STXBP2

Domain mapping of disease mutations (DMDM)

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DMDMi
313104015

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002062811 – 593Syntaxin-binding protein 2Add BLAST593

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q15833

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q15833

MaxQB - The MaxQuant DataBase

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MaxQBi
Q15833

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

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PaxDbi
Q15833

PeptideAtlas

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PeptideAtlasi
Q15833

PRoteomics IDEntifications database

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PRIDEi
Q15833

ProteomicsDB human proteome resource

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ProteomicsDBi
17549
60782 [Q15833-1]
60783 [Q15833-2]

2D gel databases

USC-OGP 2-DE database

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OGPi
Q15833

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q15833

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

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PhosphoSitePlusi
Q15833

<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

Placenta, lung, liver, kidney and pancreas, as well as in peripheral blood lymphocytes.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000076944 Expressed in 184 organ(s), highest expression level in blood

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q15833 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q15833 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA015564
HPA063868

<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 the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with STX1A, STX2 and STX3 (By similarity).

Interacts with STX11.

By similarity2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112682, 24 interactors

Protein interaction database and analysis system

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IntActi
Q15833, 7 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000413606

<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

Secondary structure

1593
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
Q15833

Database of comparative protein structure models

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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

<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 STXBP/unc-18/SEC1 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1300 Eukaryota
COG5158 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000160045

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000232146

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q15833

KEGG Orthology (KO)

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KOi
K15300

Identification of Orthologs from Complete Genome Data

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OMAi
EKLCGVE

Database of Orthologous Groups

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OrthoDBi
649559at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q15833

TreeFam database of animal gene trees

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TreeFami
TF313242

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.50.1910, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR027482 Sec-1-like_dom2
IPR001619 Sec1-like
IPR036045 Sec1-like_sf

The PANTHER Classification System

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PANTHERi
PTHR11679 PTHR11679, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00995 Sec1, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF005715 VPS45_Sec1, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF56815 SSF56815, 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 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q15833-1) [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
MAPSGLKAVV GEKILSGVIR SVKKDGEWKV LIMDHPSMRI LSSCCKMSDI
60 70 80 90 100
LAEGITIVED INKRREPIPS LEAIYLLSPT EKSVQALIKD FQGTPTFTYK
110 120 130 140 150
AAHIFFTDTC PEPLFSELGR SRLAKVVKTL KEIHLAFLPY EAQVFSLDAP
160 170 180 190 200
HSTYNLYCPF RAEERTRQLE VLAQQIATLC ATLQEYPAIR YRKGPEDTAQ
210 220 230 240 250
LAHAVLAKLN AFKADTPSLG EGPEKTRSQL LIMDRAADPV SPLLHELTFQ
260 270 280 290 300
AMAYDLLDIE QDTYRYETTG LSEAREKAVL LDEDDDLWVE LRHMHIADVS
310 320 330 340 350
KKVTELLRTF CESKRLTTDK ANIKDLSQIL KKMPQYQKEL NKYSTHLHLA
360 370 380 390 400
DDCMKHFKGS VEKLCSVEQD LAMGSDAEGE KIKDSMKLIV PVLLDAAVPA
410 420 430 440 450
YDKIRVLLLY ILLRNGVSEE NLAKLIQHAN VQAHSSLIRN LEQLGGTVTN
460 470 480 490 500
PGGSGTSSRL EPRERMEPTY QLSRWTPVIK DVMEDAVEDR LDRNLWPFVS
510 520 530 540 550
DPAPTASSQA AVSARFGHWH KNKAGIEARA GPRLIVYVMG GVAMSEMRAA
560 570 580 590
YEVTRATEGK WEVLIGSSHI LTPTRFLDDL KALDKKLEDI ALP
Length:593
Mass (Da):66,453
Last modified:November 30, 2010 - 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:i98E27B55309168A9
GO
Isoform 2 (identifier: Q15833-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     83-85: Missing.

Show »
Length:590
Mass (Da):66,138
Checksum:iC9A58E0240FCF3B2
GO
Isoform 3 (identifier: Q15833-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     82-82: K → KAQAQRVIHLPQ

Note: No experimental confirmation available.
Show »
Length:604
Mass (Da):67,695
Checksum:i66F535E773C359DC
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0R1A1M0R1A1_HUMAN
Syntaxin-binding protein 2
STXBP2
220Annotation 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>
M0R0D4M0R0D4_HUMAN
Syntaxin-binding protein 2
STXBP2
169Annotation 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>
A0A087WUN8A0A087WUN8_HUMAN
Syntaxin-binding protein 2
STXBP2
395Annotation 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>
M0R376M0R376_HUMAN
Syntaxin-binding protein 2
STXBP2
149Annotation 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>
M0R118M0R118_HUMAN
Syntaxin-binding protein 2
STXBP2
171Annotation 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>
R4GMY7R4GMY7_HUMAN
Syntaxin-binding protein 2
STXBP2
128Annotation 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>
M0R0M7M0R0M7_HUMAN
Syntaxin-binding protein 2
STXBP2
408Annotation 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>
M0QZ54M0QZ54_HUMAN
Syntaxin-binding protein 2
STXBP2
111Annotation 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>

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 conflicti348H → R in BAG64687 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063814209L → P in FHL5. 1 PublicationCorresponds to variant dbSNP:rs121918541EnsemblClinVar.1
Natural variantiVAR_063815232Missing in FHL5; leads to a complete loss of the ability to interact with STX11. 1 Publication1
Natural variantiVAR_063816292R → H in FHL5; leads to a complete loss of the ability to interact with STX11. 1 PublicationCorresponds to variant dbSNP:rs746897867Ensembl.1
Natural variantiVAR_063817405R → Q in FHL5; leads to a complete loss of the ability to interact with STX11. 1 PublicationCorresponds to variant dbSNP:rs773360200EnsemblClinVar.1
Natural variantiVAR_063818405R → W in FHL5; leads to a complete loss of the ability to interact with STX11. 1 PublicationCorresponds to variant dbSNP:rs769717341Ensembl.1
Natural variantiVAR_063819477P → L in FHL5; leads to a complete loss of the ability to interact with STX11. 2 PublicationsCorresponds to variant dbSNP:rs121918540EnsemblClinVar.1
Natural variantiVAR_014934526I → V2 PublicationsCorresponds to variant dbSNP:rs6791EnsemblClinVar.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_05515782K → KAQAQRVIHLPQ in isoform 3. 1 Publication1
Alternative sequenceiVSP_04012183 – 85Missing in isoform 2. 2 Publications3

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
U63533 mRNA Translation: AAC50762.1
BT006915 mRNA Translation: AAP35561.1
AK303701 mRNA Translation: BAG64687.1
AC008763 Genomic DNA No translation available.
CH471139 Genomic DNA Translation: EAW69018.1
BC002869 mRNA Translation: AAH02869.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS12181.1 [Q15833-1]
CCDS45948.1 [Q15833-2]
CCDS62522.1 [Q15833-3]

NCBI Reference Sequences

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RefSeqi
NP_001120868.1, NM_001127396.2 [Q15833-2]
NP_001258963.1, NM_001272034.1 [Q15833-3]
NP_008880.2, NM_006949.3 [Q15833-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000221283; ENSP00000221283; ENSG00000076944 [Q15833-1]
ENST00000414284; ENSP00000409471; ENSG00000076944 [Q15833-2]
ENST00000441779; ENSP00000413606; ENSG00000076944 [Q15833-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
6813

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6813

UCSC genome browser

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UCSCi
uc002mha.6 human [Q15833-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
U63533 mRNA Translation: AAC50762.1
BT006915 mRNA Translation: AAP35561.1
AK303701 mRNA Translation: BAG64687.1
AC008763 Genomic DNA No translation available.
CH471139 Genomic DNA Translation: EAW69018.1
BC002869 mRNA Translation: AAH02869.1
CCDSiCCDS12181.1 [Q15833-1]
CCDS45948.1 [Q15833-2]
CCDS62522.1 [Q15833-3]
RefSeqiNP_001120868.1, NM_001127396.2 [Q15833-2]
NP_001258963.1, NM_001272034.1 [Q15833-3]
NP_008880.2, NM_006949.3 [Q15833-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4CCAX-ray2.60A1-593[»]
SMRiQ15833
ModBaseiSearch...

Protein-protein interaction databases

BioGridi112682, 24 interactors
IntActiQ15833, 7 interactors
STRINGi9606.ENSP00000413606

PTM databases

iPTMnetiQ15833
PhosphoSitePlusiQ15833

Polymorphism and mutation databases

BioMutaiSTXBP2
DMDMi313104015

2D gel databases

OGPiQ15833

Proteomic databases

EPDiQ15833
jPOSTiQ15833
MaxQBiQ15833
PaxDbiQ15833
PeptideAtlasiQ15833
PRIDEiQ15833
ProteomicsDBi17549
60782 [Q15833-1]
60783 [Q15833-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
6813
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000221283; ENSP00000221283; ENSG00000076944 [Q15833-1]
ENST00000414284; ENSP00000409471; ENSG00000076944 [Q15833-2]
ENST00000441779; ENSP00000413606; ENSG00000076944 [Q15833-3]
GeneIDi6813
KEGGihsa:6813
UCSCiuc002mha.6 human [Q15833-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
6813
DisGeNETi6813

GeneCards: human genes, protein and diseases

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GeneCardsi
STXBP2
GeneReviewsiSTXBP2
HGNCiHGNC:11445 STXBP2
HPAiHPA015564
HPA063868
MalaCardsiSTXBP2
MIMi601717 gene
613101 phenotype
neXtProtiNX_Q15833
OpenTargetsiENSG00000076944
Orphaneti540 Familial hemophagocytic lymphohistiocytosis
PharmGKBiPA36242

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1300 Eukaryota
COG5158 LUCA
GeneTreeiENSGT00940000160045
HOGENOMiHOG000232146
InParanoidiQ15833
KOiK15300
OMAiEKLCGVE
OrthoDBi649559at2759
PhylomeDBiQ15833
TreeFamiTF313242

Enzyme and pathway databases

ReactomeiR-HSA-114608 Platelet degranulation
R-HSA-449836 Other interleukin signaling
SIGNORiQ15833

Miscellaneous databases

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

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ChiTaRSi
STXBP2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Syntaxin_binding_protein_2

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

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GenomeRNAii
6813

Protein Ontology

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PROi
PR:Q15833

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000076944 Expressed in 184 organ(s), highest expression level in blood
ExpressionAtlasiQ15833 baseline and differential
GenevisibleiQ15833 HS

Family and domain databases

Gene3Di3.40.50.1910, 1 hit
InterProiView protein in InterPro
IPR027482 Sec-1-like_dom2
IPR001619 Sec1-like
IPR036045 Sec1-like_sf
PANTHERiPTHR11679 PTHR11679, 1 hit
PfamiView protein in Pfam
PF00995 Sec1, 1 hit
PIRSFiPIRSF005715 VPS45_Sec1, 1 hit
SUPFAMiSSF56815 SSF56815, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 nameiSTXB2_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: Q15833
Secondary accession number(s): B4E175, E7EQD5, Q9BU65
<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: November 1, 1997
Last sequence update: November 30, 2010
Last modified: July 31, 2019
This is version 161 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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