Syntaxin-Binding Protein 2

Alternative Names

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

Length

10,764 bases

No. of Exons

No. of isoforms

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 Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_006949.4:c.1034C>T	Lebanon	NC_000019.10:g.7643172C>T	Benign, Likely Benign	Uncertain Significance	Familial Mediterranean Fever	NG_016709.1:g.11068C>T; NM_006949.4:c.1034C>T; NP_008880.2:p.Thr345Met	117761837	194241
NM_006949.4:c.1430C>T	Saudi Arabia; United A...	NC_000019.10:g.7646322C>T	Pathogenic	Pathogenic	Hemophagocytic Lymphohistiocytosis, Familial, 5, with or without Microvillus Inclusion Disease	NG_016709.1:g.14218C>T; NM_006949.4:c.1430C>T; NP_008880.2:p.Pro477Leu	121918540	7858
NM_006949.4:c.1727del	Lebanon	NC_000019.10:g.7647755del		Likely Pathogenic	Hemophagocytic Lymphohistiocytosis, Familial, 5, with or without Microvillus Inclusion Disease	NG_016709.1:g.15651del; NM_006949.4:c.1727del; NP_008880.2:p.Phe576SerfsTer5

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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.

External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=stxbp2

Contributors

Asha Deepthi: 03.08.2022
Asha Deepthi: 01.04.2022
Sayeeda Hana: 03.02.2021

Edit History

Asha Deepthi: 03.08.2022
Asha Deepthi: 01.04.2022
Sayeeda Hana: 03.02.2021

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