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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-Experimental evidence at protein leveli

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

GO - Molecular functioni

  • syntaxin-3 binding Source: UniProtKB

GO - Biological processi

  • leukocyte mediated cytotoxicity Source: UniProtKB
  • neutrophil degranulation Source: UniProtKB
  • protein transport Source: UniProtKB-KW
  • regulation of mast cell degranulation Source: UniProtKB
  • vesicle docking involved in exocytosis Source: InterPro
Complete GO annotation...

Keywords - Biological processi

Exocytosis, Protein transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000076944-MONOMER.
ReactomeiR-HSA-114608. Platelet degranulation.
SIGNORiQ15833.

Names & Taxonomyi

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
Gene namesi
Name:STXBP2
Synonyms:UNC18B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:11445. STXBP2.

Subcellular locationi

GO - Cellular componenti

  • apical plasma membrane Source: Ensembl
  • azurophil granule Source: UniProtKB
  • cytolytic granule Source: UniProtKB
  • cytosol Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • plasma membrane Source: UniProtKB
  • specific granule Source: UniProtKB
  • tertiary granule Source: UniProtKB
  • zymogen granule membrane Source: Ensembl
Complete GO annotation...

Pathology & Biotechi

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.
See also OMIM:613101
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063814209L → P in FHL5. 1 PublicationCorresponds to variant rs121918541dbSNPEnsembl.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 rs746897867dbSNPEnsembl.1
Natural variantiVAR_063817405R → Q in FHL5; leads to a complete loss of the ability to interact with STX11. 1 PublicationCorresponds to variant rs773360200dbSNPEnsembl.1
Natural variantiVAR_063818405R → W in FHL5; leads to a complete loss of the ability to interact with STX11. 1 PublicationCorresponds to variant rs769717341dbSNPEnsembl.1
Natural variantiVAR_063819477P → L in FHL5; leads to a complete loss of the ability to interact with STX11. 2 PublicationsCorresponds to variant rs121918540dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi6813.
MalaCardsiSTXBP2.
MIMi613101. phenotype.
OpenTargetsiENSG00000076944.
Orphaneti540. Familial hemophagocytic lymphohistiocytosis.
PharmGKBiPA36242.

Polymorphism and mutation databases

DMDMi313104015.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002062811 – 593Syntaxin-binding protein 2Add BLAST593

Proteomic databases

EPDiQ15833.
MaxQBiQ15833.
PaxDbiQ15833.
PeptideAtlasiQ15833.
PRIDEiQ15833.

2D gel databases

OGPiQ15833.

PTM databases

iPTMnetiQ15833.
PhosphoSitePlusiQ15833.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000076944.
CleanExiHS_STXBP2.
ExpressionAtlasiQ15833. baseline and differential.
GenevisibleiQ15833. HS.

Organism-specific databases

HPAiHPA015564.
HPA063868.

Interactioni

Subunit structurei

Interacts with STX1A, STX2 and STX3 (By similarity). Interacts with STX11.By similarity2 Publications

GO - Molecular functioni

  • syntaxin-3 binding Source: UniProtKB

Protein-protein interaction databases

BioGridi112682. 21 interactors.
IntActiQ15833. 6 interactors.
MINTiMINT-4718353.
STRINGi9606.ENSP00000221283.

Structurei

Secondary structure

1593
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi6 – 15Combined sources10
Turni16 – 22Combined sources7
Beta strandi29 – 33Combined sources5
Helixi35 – 42Combined sources8
Helixi47 – 51Combined sources5
Turni52 – 54Combined sources3
Beta strandi55 – 58Combined sources4
Beta strandi71 – 77Combined sources7
Helixi81 – 89Combined sources9
Beta strandi102 – 108Combined sources7
Helixi112 – 119Combined sources8
Helixi123 – 126Combined sources4
Beta strandi127 – 132Combined sources6
Beta strandi141 – 146Combined sources6
Helixi152 – 157Combined sources6
Helixi159 – 164Combined sources6
Helixi165 – 182Combined sources18
Beta strandi188 – 191Combined sources4
Beta strandi193 – 195Combined sources3
Helixi196 – 215Combined sources20
Turni217 – 220Combined sources4
Helixi225 – 227Combined sources3
Beta strandi229 – 233Combined sources5
Helixi235 – 237Combined sources3
Helixi241 – 243Combined sources3
Helixi249 – 256Combined sources8
Beta strandi263 – 267Combined sources5
Beta strandi276 – 280Combined sources5
Beta strandi282 – 284Combined sources3
Helixi286 – 291Combined sources6
Turni296 – 298Combined sources3
Helixi299 – 314Combined sources16
Helixi327 – 331Combined sources5
Helixi333 – 357Combined sources25
Helixi360 – 373Combined sources14
Helixi385 – 393Combined sources9
Helixi400 – 414Combined sources15
Helixi419 – 428Combined sources10
Helixi432 – 434Combined sources3
Helixi435 – 439Combined sources5
Helixi440 – 443Combined sources4
Helixi478 – 487Combined sources10
Turni493 – 495Combined sources3
Beta strandi498 – 500Combined sources3
Beta strandi533 – 538Combined sources6
Helixi544 – 556Combined sources13
Turni557 – 559Combined sources3
Beta strandi562 – 570Combined sources9
Helixi573 – 582Combined sources10

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4CCAX-ray2.60A1-593[»]
ProteinModelPortaliQ15833.
SMRiQ15833.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the STXBP/unc-18/SEC1 family.Curated

Phylogenomic databases

eggNOGiKOG1300. Eukaryota.
COG5158. LUCA.
GeneTreeiENSGT00390000005206.
HOGENOMiHOG000232146.
HOVERGENiHBG052710.
InParanoidiQ15833.
KOiK15300.
OMAiPRERMEP.
OrthoDBiEOG091G0WUI.
PhylomeDBiQ15833.
TreeFamiTF313242.

Family and domain databases

Gene3Di3.40.50.1910. 2 hits.
InterProiIPR027482. Sec-1-like_dom2.
IPR001619. Sec1-like.
[Graphical view]
PANTHERiPTHR11679. PTHR11679. 1 hit.
PfamiPF00995. Sec1. 1 hit.
[Graphical view]
PIRSFiPIRSF005715. VPS45_Sec1. 1 hit.
SUPFAMiSSF56815. SSF56815. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q15833-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 rs121918541dbSNPEnsembl.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 rs746897867dbSNPEnsembl.1
Natural variantiVAR_063817405R → Q in FHL5; leads to a complete loss of the ability to interact with STX11. 1 PublicationCorresponds to variant rs773360200dbSNPEnsembl.1
Natural variantiVAR_063818405R → W in FHL5; leads to a complete loss of the ability to interact with STX11. 1 PublicationCorresponds to variant rs769717341dbSNPEnsembl.1
Natural variantiVAR_063819477P → L in FHL5; leads to a complete loss of the ability to interact with STX11. 2 PublicationsCorresponds to variant rs121918540dbSNPEnsembl.1
Natural variantiVAR_014934526I → V.2 PublicationsCorresponds to variant rs6791dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05515782K → KAQAQRVIHLPQ in isoform 3. 1 Publication1
Alternative sequenceiVSP_04012183 – 85Missing in isoform 2. 2 Publications3

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]
UniGeneiHs.515104.

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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]
UniGeneiHs.515104.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4CCAX-ray2.60A1-593[»]
ProteinModelPortaliQ15833.
SMRiQ15833.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112682. 21 interactors.
IntActiQ15833. 6 interactors.
MINTiMINT-4718353.
STRINGi9606.ENSP00000221283.

PTM databases

iPTMnetiQ15833.
PhosphoSitePlusiQ15833.

Polymorphism and mutation databases

DMDMi313104015.

2D gel databases

OGPiQ15833.

Proteomic databases

EPDiQ15833.
MaxQBiQ15833.
PaxDbiQ15833.
PeptideAtlasiQ15833.
PRIDEiQ15833.

Protocols and materials databases

DNASUi6813.
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

CTDi6813.
DisGeNETi6813.
GeneCardsiSTXBP2.
GeneReviewsiSTXBP2.
H-InvDBHIX0021726.
HGNCiHGNC:11445. STXBP2.
HPAiHPA015564.
HPA063868.
MalaCardsiSTXBP2.
MIMi601717. gene.
613101. phenotype.
neXtProtiNX_Q15833.
OpenTargetsiENSG00000076944.
Orphaneti540. Familial hemophagocytic lymphohistiocytosis.
PharmGKBiPA36242.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1300. Eukaryota.
COG5158. LUCA.
GeneTreeiENSGT00390000005206.
HOGENOMiHOG000232146.
HOVERGENiHBG052710.
InParanoidiQ15833.
KOiK15300.
OMAiPRERMEP.
OrthoDBiEOG091G0WUI.
PhylomeDBiQ15833.
TreeFamiTF313242.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000076944-MONOMER.
ReactomeiR-HSA-114608. Platelet degranulation.
SIGNORiQ15833.

Miscellaneous databases

ChiTaRSiSTXBP2. human.
GeneWikiiSyntaxin_binding_protein_2.
GenomeRNAii6813.
PROiQ15833.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000076944.
CleanExiHS_STXBP2.
ExpressionAtlasiQ15833. baseline and differential.
GenevisibleiQ15833. HS.

Family and domain databases

Gene3Di3.40.50.1910. 2 hits.
InterProiIPR027482. Sec-1-like_dom2.
IPR001619. Sec1-like.
[Graphical view]
PANTHERiPTHR11679. PTHR11679. 1 hit.
PfamiPF00995. Sec1. 1 hit.
[Graphical view]
PIRSFiPIRSF005715. VPS45_Sec1. 1 hit.
SUPFAMiSSF56815. SSF56815. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiSTXB2_HUMAN
AccessioniPrimary (citable) accession number: Q15833
Secondary accession number(s): B4E175, E7EQD5, Q9BU65
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 30, 2010
Last modified: November 2, 2016
This is version 141 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.