QuickView for STXBP2;jsessionid=6A2F860C0AF7E76917126C1637AED0D3;jsessionid=4933ED8D2DC6DAD2321DDD4A9E940EF1;jsessionid=1C476C80F2906C81B44C91E5FE0E0F0B;jsessionid=8EA4A7AA4AB7D1D5FCC6D5FA5D0782B1;jsessionid=DBED969CD73EEB21A21B7D5EBF02310D (gene)

Gene Symbol:

STXBP2 Homo sapiens

Full name:

syntaxin binding protein 2

Synonyms:

FHL5, Hunc18b, MUNC18-2, UNC18-2, UNC18B, pp10122, syntaxin-binding protein 2, protein unc-18 homolog B, unc-18B

Genomic Location:

Chr 19: 7608011-7618707

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. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. ...

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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. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Schizosaccharomyces pombe ,  Canis lupus familiaris ,  Danio rerio ,  Bos taurus ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GATA1_03 ,  CACGTG_MYC_Q2 ,  GCANCTGNY_MYOD_Q6 ,  GGGYGTGNY_UNKNOWN ,  CAGGTG_E12_Q6 ,  EGR_Q6 ,  MYCMAX_01 ,  GGGCGGR_SP1_Q6 ,  SCGGAAGY_ELK1_02 ,  GATA1_05

Cytogenetic Map:

19p13.2

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