Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q15833 (STXB2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 119. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:STXBP2
Synonyms:UNC18B
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length593 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.7 Ref.8

Subunit structure

Interacts with STX1A, STX2 and STX3 By similarity. Interacts with STX11. Ref.7 Ref.8

Tissue specificity

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

Involvement in disease

Familial hemophagocytic lymphohistiocytosis 5 (FHL5) [MIM:613101]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.8

Sequence similarities

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

Ontologies

Keywords
   Biological processExocytosis
Protein transport
Transport
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processleukocyte mediated cytotoxicity

Inferred from mutant phenotype Ref.8. Source: UniProtKB

neutrophil degranulation

Inferred from expression pattern PubMed 18588921. Source: UniProtKB

protein transport

Inferred from electronic annotation. Source: UniProtKB-KW

regulation of mast cell degranulation

Inferred from sequence or structural similarity. Source: UniProtKB

vesicle docking involved in exocytosis

Inferred from electronic annotation. Source: InterPro

   Cellular_componentapical plasma membrane

Inferred from electronic annotation. Source: Ensembl

azurophil granule

Inferred from direct assay PubMed 18588921. Source: UniProtKB

cytolytic granule

Inferred from direct assay Ref.7. Source: UniProtKB

cytosol

Inferred from direct assay PubMed 18588921. Source: UniProtKB

extracellular vesicular exosome

Inferred from direct assay PubMed 11487543. Source: UniProtKB

plasma membrane

Inferred from direct assay PubMed 18588921. Source: UniProtKB

specific granule

Inferred from direct assay PubMed 18588921. Source: UniProtKB

tertiary granule

Inferred from direct assay PubMed 18588921. Source: UniProtKB

   Molecular_functionprotein binding

Inferred from physical interaction Ref.7Ref.8. Source: UniProtKB

syntaxin-3 binding

Inferred from physical interaction PubMed 18588921. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q15833-1)

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.
Isoform 2 (identifier: Q15833-2)

The sequence of this isoform differs from the canonical sequence as follows:
     83-85: Missing.
Isoform 3 (identifier: Q15833-3)

The sequence of this isoform differs from the canonical sequence as follows:
     82-82: K → KAQAQRVIHLPQ
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 593593Syntaxin-binding protein 2
PRO_0000206281

Natural variations

Alternative sequence821K → KAQAQRVIHLPQ in isoform 3.
VSP_055157
Alternative sequence83 – 853Missing in isoform 2.
VSP_040121
Natural variant2091L → P in FHL5. Ref.7
VAR_063814
Natural variant2321Missing in FHL5; leads to a complete loss of the ability to interact with STX11. Ref.7
VAR_063815
Natural variant2921R → H in FHL5; leads to a complete loss of the ability to interact with STX11. Ref.7
VAR_063816
Natural variant4051R → Q in FHL5; leads to a complete loss of the ability to interact with STX11. Ref.7
VAR_063817
Natural variant4051R → W in FHL5; leads to a complete loss of the ability to interact with STX11. Ref.7
VAR_063818
Natural variant4771P → L in FHL5; leads to a complete loss of the ability to interact with STX11. Ref.7 Ref.8
VAR_063819
Natural variant5261I → V. Ref.1 Ref.3
Corresponds to variant rs6791 [ dbSNP | Ensembl ].
VAR_014934

Experimental info

Sequence conflict3481H → R in BAG64687. Ref.3

Secondary structure

......................................................................................... 593
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 30, 2010. Version 2.
Checksum: 98E27B55309168A9

FASTA59366,453
        10         20         30         40         50         60 
MAPSGLKAVV GEKILSGVIR SVKKDGEWKV LIMDHPSMRI LSSCCKMSDI LAEGITIVED 

        70         80         90        100        110        120 
INKRREPIPS LEAIYLLSPT EKSVQALIKD FQGTPTFTYK AAHIFFTDTC PEPLFSELGR 

       130        140        150        160        170        180 
SRLAKVVKTL KEIHLAFLPY EAQVFSLDAP HSTYNLYCPF RAEERTRQLE VLAQQIATLC 

       190        200        210        220        230        240 
ATLQEYPAIR YRKGPEDTAQ LAHAVLAKLN AFKADTPSLG EGPEKTRSQL LIMDRAADPV 

       250        260        270        280        290        300 
SPLLHELTFQ AMAYDLLDIE QDTYRYETTG LSEAREKAVL LDEDDDLWVE LRHMHIADVS 

       310        320        330        340        350        360 
KKVTELLRTF CESKRLTTDK ANIKDLSQIL KKMPQYQKEL NKYSTHLHLA DDCMKHFKGS 

       370        380        390        400        410        420 
VEKLCSVEQD LAMGSDAEGE KIKDSMKLIV PVLLDAAVPA YDKIRVLLLY ILLRNGVSEE 

       430        440        450        460        470        480 
NLAKLIQHAN VQAHSSLIRN LEQLGGTVTN PGGSGTSSRL EPRERMEPTY QLSRWTPVIK 

       490        500        510        520        530        540 
DVMEDAVEDR LDRNLWPFVS DPAPTASSQA AVSARFGHWH KNKAGIEARA GPRLIVYVMG 

       550        560        570        580        590 
GVAMSEMRAA YEVTRATEGK WEVLIGSSHI LTPTRFLDDL KALDKKLEDI ALP 

« Hide

Isoform 2 [UniParc].

Checksum: C9A58E0240FCF3B2
Show »

FASTA59066,138
Isoform 3 [UniParc].

Checksum: 66F535E773C359DC
Show »

FASTA60467,695

References

« Hide 'large scale' references
[1]"Molecular characterization of a nonneuronal human UNC18 homolog."
Ziegler S.F., Mortrud M.T., Swartz A.R., Baker E., Sutherland G.R., Burmeister M., Mulligan J.T.
Genomics 37:19-23(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT VAL-526.
[2]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT VAL-526.
Tissue: Kidney.
[4]"The DNA sequence and biology of human chromosome 19."
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. expand/collapse author list , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Lung.
[7]"Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11."
zur Stadt U., Rohr J., Seifert W., Koch F., Grieve S., Pagel J., Strauss J., Kasper B., Nuernberg G., Becker C., Maul-Pavicic A., Beutel K., Janka G., Griffiths G., Ehl S., Hennies H.C.
Am. J. Hum. Genet. 85:482-492(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH STX11, VARIANTS FHL5 PRO-209; ILE-232 DEL; HIS-292; TRP-405; GLN-405 AND LEU-477, CHARACTERIZATION OF VARIANTS FHL5 ILE-232 DEL; HIS-292; TRP-405; GLN-405 AND LEU-477.
[8]"Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells."
Cote M., Menager M.M., Burgess A., Mahlaoui N., Picard C., Schaffner C., Al-Manjomi F., Al-Harbi M., Alangari A., Le Deist F., Gennery A.R., Prince N., Cariou A., Nitschke P., Blank U., El-Ghazali G., Menasche G., Latour S., Fischer A., de Saint Basile G.
J. Clin. Invest. 119:3765-3773(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH STX11, VARIANT FHL5 LEU-477.
[9]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS12181.1. [Q15833-1]
CCDS45948.1. [Q15833-2]
RefSeqNP_001120868.1. NM_001127396.2. [Q15833-2]
NP_001258963.1. NM_001272034.1.
NP_008880.2. NM_006949.3. [Q15833-1]
UniGeneHs.515104.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
4CCAX-ray2.60A1-593[»]
ProteinModelPortalQ15833.
SMRQ15833. Positions 5-593.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112682. 5 interactions.
MINTMINT-4718353.
STRING9606.ENSP00000221283.

PTM databases

PhosphoSiteQ15833.

Polymorphism databases

DMDM313104015.

2D gel databases

OGPQ15833.

Proteomic databases

MaxQBQ15833.
PaxDbQ15833.
PRIDEQ15833.

Protocols and materials databases

DNASU6813.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000221283; ENSP00000221283; ENSG00000076944. [Q15833-1]
ENST00000414284; ENSP00000409471; ENSG00000076944. [Q15833-2]
ENST00000441779; ENSP00000413606; ENSG00000076944.
GeneID6813.
KEGGhsa:6813.
UCSCuc002mha.5. human. [Q15833-1]
uc002mhb.5. human. [Q15833-2]

Organism-specific databases

CTD6813.
GeneCardsGC19P007701.
GeneReviewsSTXBP2.
H-InvDBHIX0021726.
HGNCHGNC:11445. STXBP2.
HPAHPA015564.
MIM601717. gene.
613101. phenotype.
neXtProtNX_Q15833.
Orphanet540. Familial hemophagocytic lymphohistiocytosis.
PharmGKBPA36242.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5158.
HOGENOMHOG000232146.
HOVERGENHBG052710.
InParanoidQ15833.
KOK15300.
OMAHIADVTK.
OrthoDBEOG78PV8M.
PhylomeDBQ15833.
TreeFamTF313242.

Gene expression databases

ArrayExpressQ15833.
BgeeQ15833.
CleanExHS_STXBP2.
GenevestigatorQ15833.

Family and domain databases

Gene3D3.40.50.1910. 2 hits.
InterProIPR027482. Sec-1-like_dom2.
IPR001619. Sec1-like.
[Graphical view]
PANTHERPTHR11679. PTHR11679. 1 hit.
PfamPF00995. Sec1. 1 hit.
[Graphical view]
PIRSFPIRSF005715. VPS45_Sec1. 1 hit.
SUPFAMSSF56815. SSF56815. 1 hit.
ProtoNetSearch...

Other

GeneWikiSyntaxin_binding_protein_2.
GenomeRNAi6813.
NextBio26589.
PROQ15833.
SOURCESearch...

Entry information

Entry nameSTXB2_HUMAN
AccessionPrimary (citable) accession number: Q15833
Secondary accession number(s): B4E175, E7EQD5, Q9BU65
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 30, 2010
Last modified: July 9, 2014
This is version 119 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM