Syntaxin-Binding Protein 2

Alternative Names

  • STXBP2
  • UNC18, C. Elegans, Homolog of, 2
  • UNC18B
  • MUNC18-2
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OMIM Number

601717

NCBI Gene ID

6813

Uniprot ID

Q15833

Length

10,764 bases

No. of Exons

21

No. of isoforms

3

Protein Name

Syntaxin-binding protein 2

Molecular Mass

66453 Da

Amino Acid Count

593

Genomic Location

chr19:7,637,109-7,647,872

Gene Map Locus
19p13.2

Description

This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006949.4:c.1034C>TLebanonNC_000019.10:g.7643172C>TBenign, Likely BenignUncertain SignificanceFamilial Mediterranean FeverNG_016709.1:g.11068C>T; NM_006949.4:c.1034C>T; NP_008880.2:p.Thr345Met117761837194241
NM_006949.4:c.1430C>TSaudi Arabia; United A...NC_000019.10:g.7646322C>TPathogenicPathogenicHemophagocytic Lymphohistiocytosis, Familial, 5, with or without Microvillus Inclusion DiseaseNG_016709.1:g.14218C>T; NM_006949.4:c.1430C>T; NP_008880.2:p.Pro477Leu1219185407858
NM_006949.4:c.1727delLebanonNC_000019.10:g.7647755delLikely PathogenicHemophagocytic Lymphohistiocytosis, Familial, 5, with or without Microvillus Inclusion DiseaseNG_016709.1:g.15651del; NM_006949.4:c.1727del; NP_008880.2:p.Phe576SerfsTer5

Other Reports

United Arab Emirates

In a retrospective study, Awan et al. 2013 analysed case histories of ten patients with hemophagocytic lymphohistiocytosis (HLH) seen at Pediatric Hematology/Oncology in Tawam Hospital, UAE between 2006 and 2012. All patients had prolonged fever, splenomegaly, and cytopenia, and 50% of patients displayed central nervous system-related symptoms. An Emirati patient (male, 3 years) was identified with mutation in STXBP2  gene, which is associated with hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease.

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