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1: STXBP2 syntaxin binding protein 2 [ Homo sapiens ]

GeneID: 6813 updated 3-Dec-2009

[Top][Help]Summary

Official Symbol
STXBP2provided by HGNC
Official Full Name
syntaxin binding protein 2provided by HGNC
Primary Source
HGNC:11445
See related
Ensembl:ENSG00000076944; HPRD:03423; MIM:601717
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FHL5; UNC18B; Hunc18b; UNC18-2; pp10122; MUNC18-2; STXBP2
Summary
Several mammalian homologs of the C. elegans gene Unc18 have been identified, including STXBP2. These genes are conserved across species from yeast to man and are believed to take part in membrane-fusion processes. See STXBP1 (MIM 602926).[supplied by OMIM]

[Top][Help]Genomic regions, transcripts, and products

(plus) Go to reference sequence detailsTry our new Sequence Viewer


[Top][Help]Genomic context

chromosome: 19; Location: 19p13.3-p13.2See STXBP2 in MapViewer

[Top][Help]Bibliography

Related Articles in PubMed

GeneRIFs: Gene References Into Function What's a GeneRIF?

PubMed 1. Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11
PubMed 2. Munc18-2 acts as a regulator of primary granule exocytosis, while Munc18-3 may preferentially regulate the fusion of secondary granules
PubMed 3. binds to syntaxins 1A, 2, and 3 and regulates vesicle transport to the apical plasma membrane
Submit: New GeneRIF Correction

[Top][Help]Interactions

Description ..........
  Product Interactant Other Gene Complex Source Pubs          
 
  NP_008880.1   SNAP23   SNAP23      HPRD    PubMed
 
  NP_008880.1   NP_003082.1   SNRPB      HPRD    PubMed
 
  NP_008880.1   Syntaxin 1A   STX1A      HPRD    PubMed
 
  NP_008880.1   NP_009200.1   STXBP3      HPRD    PubMed
 
  NP_008880.1   Synaptobrevin 2   VAMP2      HPRD    PubMed
 
  NP_008880.1   Syntaxin 2        HPRD    PubMed
 
  NP_008880.1   Syntaxin 3        HPRD    PubMed
 
  Syntaxin binding protein 2   NP_001971.2   STX2      HPRD    PubMed
 
  Syntaxin binding protein 2   NP_004168.1   STX3      HPRD    PubMed
Reconstituted Complex
  BioGRID:112682   BioGRID:112676   STX1A      BioGRID    PubMed
Reconstituted Complex
  BioGRID:112682   BioGRID:108368   STX2      BioGRID    PubMed
Reconstituted Complex
  BioGRID:112682   BioGRID:112678   STX3      BioGRID    PubMed
Reconstituted Complex
  BioGRID:112682   BioGRID:112679   STX4      BioGRID    PubMed

[Top][Help]General gene information

Markers

RH36223(e-PCR)
Links: UniSTS:50753

Phenotypes

Hemophagocytic lymphohistiocytosis, familial, 5
MIM: 601717

Homology

Homologs of the STXBP2 gene The STXBP2 gene is conserved in chimpanzee, dog, cow, mouse, rat, zebrafish, S.pombe, S.cerevisiae, K.lactis, E.gossypii, M.grisea, and N.crassa.


Map Viewer (Mouse, Rat)

[Top][Help]General protein information

Preferred Names
syntaxin binding protein 2
Names
syntaxin binding protein 2

[Top][Help]NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

mRNA and Protein(s)

  1. NM_001127396.1 → NP_001120868.1  syntaxin binding protein 2 isoform b

    Description
    Transcript Variant: This variant (2) has an alternate splice site in the CDS, as compared to variant 1. The resulting isoform (b) lacks internal three aa and has identical N- and C-termini, as compared to isoform a.
    Source sequence(s)
    BC002869,DA431480
    Consensus CDS
    CCDS45948.1
    UniProtKB/TrEMBL
    Q9BU65
    Related Ensembl
    ENSP00000409471, ENST00000414284
    Conserved Domains (2) summary
    COG5158
    Location:15 – 573
    Blast Score: 650
    SEC1; Proteins involved in synaptic transmission and general secretion, Sec1 family [Intracellular trafficking and secretion]
    pfam00995
    Location:28 – 573
    Blast Score: 1593
    Sec1; Sec1 family

  2. NM_006949.2 → NP_008880.2  syntaxin binding protein 2 isoform a

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AK222967,BC002869,DA431480
    Consensus CDS
    CCDS12181.1
    UniProtKB/TrEMBL
    Q53GF4
    UniProtKB/TrEMBL
    Q9BU65
    Related Ensembl
    ENSP00000221283, ENST00000221283
    Conserved Domains (2) summary
    COG5158
    Location:15 – 576
    Blast Score: 671
    SEC1; Proteins involved in synaptic transmission and general secretion, Sec1 family [Intracellular trafficking and secretion]
    pfam00995
    Location:28 – 576
    Blast Score: 1616
    Sec1; Sec1 family

RefSeqs of Annotated Genomes: Build 37.1

The following sections contain reference sequences that belong to a specific genome build. Explain

Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

  1. NC_000019.9

    Range
    7701990..7712758
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NT_077812.2 

    Range
    305986..316754
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

  1. AC_000062.1

    Range
    7573174..7583944
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NW_927173.1 

    Range
    6831898..6842668
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

  1. AC_000151.1

    Range
    7371711..7382555, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NW_001838480.2 

    Range
    964053..974897, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

[Top][Help]Related Sequences

  Nucleotide   Protein
  genomic   AC008763.9  (67935..78631)   None
  genomic   CH471139.2   EAW69017.1
       EAW69018.1
  mRNA   AB002559.1   BAA19547.1
  mRNA   AF318317.1   AAL55824.1
  mRNA   AK098000.1   None
  mRNA   AK222967.1   BAD96687.1
  mRNA   AK222977.1   BAD96697.1
  mRNA   AK302257.1   BAG63608.1
  mRNA   AK303701.1   BAG64687.1
  mRNA   AK314230.1   None
  mRNA   BC002869.2   AAH02869.1
  mRNA   BT006915.1   AAP35561.1
  mRNA   CR597245.1   None
  mRNA   CR598164.1   None
  mRNA   CR601226.1   None
  mRNA   CR603281.1   None
  mRNA   CR611106.1   None
  mRNA   CR611137.1   None
  mRNA   CR611383.1   None
  mRNA   CR613567.1   None
  mRNA   CR617049.1   None
  mRNA   CR620863.1   None
  mRNA   CR625756.1   None
  mRNA   CR626453.1   None
  mRNA   DA431480.1   None
  mRNA   U63533.1   AAC50762.1
Protein Accession   Links
O00184   GenPept   UniProtKB/TrEMBL:O00184
Q15833.1   GenPept   UniProtKB/Swiss-Prot:Q15833
Q53GF4   GenPept   UniProtKB/TrEMBL:Q53GF4
Q8WYX9   GenPept   UniProtKB/TrEMBL:Q8WYX9
Q9BU65   GenPept   UniProtKB/TrEMBL:Q9BU65

[Top][Help]Additional Links

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