STXBP2 syntaxin binding protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: STXBP2provided by HGNC
Official Full Name: syntaxin binding protein 2provided by HGNC
Primary source: HGNC:HGNC:11445
See related: Ensembl:ENSG00000076944 MIM:601717; AllianceGenome:HGNC:11445
Gene type: protein coding
RefSeq status: REVIEWED
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; unc-18B; MUNC18-2
Summary: 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. [provided by RefSeq, Jan 2013]
Expression: Ubiquitous expression in bone marrow (RPKM 31.6), duodenum (RPKM 21.3) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.2

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (7629793..7647873)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (7630676..7648756)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (7694679..7712759)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis.
Title: Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis.
STXBP2-R190C Variant in a Patient With Neonatal Hemophagocytic Lymphohistiocytosis (HLH) and G6PD Deficiency Reveals a Critical Role of STXBP2 Domain 2 on Granule Exocytosis.
Title: STXBP2-R190C Variant in a Patient With Neonatal Hemophagocytic Lymphohistiocytosis (HLH) and G6PD Deficiency Reveals a Critical Role of STXBP2 Domain 2 on Granule Exocytosis.
Different Clinical Presentation of 3 Children With Familial Hemophagocytic Lymphohistiocytosis With 2 Novel Mutations.
Title: Different Clinical Presentation of 3 Children With Familial Hemophagocytic Lymphohistiocytosis With 2 Novel Mutations.
In the current study, we have made the unexpected observation that congenital deficiency of the STXBP2 protein may also affect the expression of STXBP1. Further analysis identified an unsuspected functional role for STXBP1 in secretory granule-mediated NK and T-cell cytotoxicity.
Title: Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing.
Loss of Munc18-2/Stxbp2 recapitulated the pathologic features observed in patients with MUNC18-2 deficiency.
Title: Dynamic Formation of Microvillus Inclusions During Enterocyte Differentiation in Munc18-2-Deficient Intestinal Organoids.
Neonatal platelets exhibit low levels of the Stx11-Munc18b complex (essential component of the SNARE machinery) and of beta1-tubulin. These developmental deficiencies are associated with defects in platelet adhesion, spreading and secretion.
Title: Down Regulation of the Munc18b-syntaxin-11 Complex and β1-tubulin Impairs Secretion and Spreading in Neonatal Platelets.
Among these nine polymorphisms, rs188212047 [G/T (L212F)] of STXBP2 was significantly (dominant model; P = 4.84 x 10-8; odds ratio, 2.94) associated with myocardial infarction. STXBP2 may thus be a novel susceptibility locus for myocardial infarction in Japanese.
Title: Identification of STXBP2 as a novel susceptibility locus for myocardial infarction in Japanese individuals by an exome-wide association study.
STXBP2 Gene Polymorphism is associated with Hemophagocytic Lymphohistocytosis.
Title: Hemophagocytic Lymphohistocytosis in the Chinese Han Population May Be Associated with an STXBP2 Gene Polymorphism.
Mutation in STXBP2 gene is associated with hemophagocytic lymphohistiocytosis.
Title: Clinical presentation and outcome of pediatric patients with hemophagocytic lymphohistiocytosis in China: A retrospective multicenter study.
Data show that Munc18b overexpression increased fusion of not only newcomer secretory granule (SG), but also predocked SGs in type-2 diabetes (T2D) human and Goto-Kakizaki Rat Islets.
Title: Munc18b Increases Insulin Granule Fusion, Restoring Deficient Insulin Secretion in Type-2 Diabetes Human and Goto-Kakizaki Rat Islets with Improvement in Glucose Homeostasis.

Submit: New GeneRIF Correction See all GeneRIFs (30)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Familial hemophagocytic lymphohistiocytosis 5 MedGen: C2751293 OMIM: 613101 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of syntaxin binding protein 2 (STXBP2) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
reverse transcriptase	gag-pol	Knockdown of syntaxin binding protein 2 (STXBP2) reduces the amount of reverse transcribed viral DNA, leading to inhibit HIV-1 replication in Jurkat cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables syntaxin-1 binding	IBA Inferred from Biological aspect of Ancestor more info
enables syntaxin-3 binding	IBA Inferred from Biological aspect of Ancestor more info
enables syntaxin-3 binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in leukocyte mediated cytotoxicity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neutrophil degranulation	IEP Inferred from Expression Pattern more info	PubMed
involved_in presynaptic dense core vesicle exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of mast cell degranulation	ISS Inferred from Sequence or Structural Similarity more info
involved_in vesicle docking involved in exocytosis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in azurophil granule	IDA Inferred from Direct Assay more info	PubMed
located_in cytolytic granule	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in presynapse	IEA Inferred from Electronic Annotation more info
is_active_in secretory granule	IBA Inferred from Biological aspect of Ancestor more info
located_in specific granule	IDA Inferred from Direct Assay more info	PubMed
located_in tertiary granule	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: syntaxin-binding protein 2

Names: protein unc-18 homolog B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016709.1 RefSeqGene

Range

4997..15770

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_165

mRNA and Protein(s)

NM_001127396.3 → NP_001120868.1 syntaxin-binding protein 2 isoform b

See identical proteins and their annotated locations for NP_001120868.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 3. The encoded isoform (b) is shorter than isoform c.

Source sequence(s)

BC002869, BQ067493

Consensus CDS

CCDS45948.1

UniProtKB/TrEMBL

Q53GF4

Related

ENSP00000409471.1, ENST00000414284.6

Conserved Domains (1) summary

pfam00995
Location:29 → 570

Sec1; Sec1 family
NM_001272034.2 → NP_001258963.1 syntaxin-binding protein 2 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c).

Source sequence(s)

AI571535, AK303701, AU098728, BC002869

Consensus CDS

CCDS62522.1

UniProtKB/TrEMBL

Q53GF4

Related

ENSP00000413606.2, ENST00000441779.6

Conserved Domains (1) summary

pfam00995
Location:29 → 584

Sec1; Sec1 family
NM_001414484.1 → NP_001401413.1 syntaxin-binding protein 2 isoform d

Status: REVIEWED

Source sequence(s)

AC008763
NM_006949.4 → NP_008880.2 syntaxin-binding protein 2 isoform a

See identical proteins and their annotated locations for NP_008880.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) uses an alternate in-frame splice site in the coding region, compared to variant 3. The encoded isoform (a) is shorter than isoform c.

Source sequence(s)

AK222967, BC002869, DA431480

Consensus CDS

CCDS12181.1

UniProtKB/Swiss-Prot

B4E175, E7EQD5, Q15833, Q9BU65

UniProtKB/TrEMBL

Q53GF4

Related

ENSP00000221283.4, ENST00000221283.10

Conserved Domains (1) summary

pfam00995
Location:29 → 573

Sec1; Sec1 family

RNA

NR_073560.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate splice site in an internal exon, lacks an internal exon and contains an alternate internal exon, compared to variant 3. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK314230, BC002869, DA431480

Related

ENST00000597068.5