The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from t... See more...

Aliases for STX1B Gene

Aliases for STX1B Gene

  • Syntaxin 1B 2 3 5
  • Syntaxin-1B1 3 4
  • Syntaxin-1B2 3 4
  • Syntaxin-1B 3 4
  • STX1B1 3 4
  • STX1B2 3 4
  • Syntaxin 1B1 2
  • Syntaxin 1B2 2
  • GEFSP9 3
  • STX1B 5

External Ids for STX1B Gene

Previous HGNC Symbols for STX1B Gene

  • STX1B1
  • STX1B2

Previous GeneCards Identifiers for STX1B Gene

  • GC16M030912
  • GC16M031000
  • GC16M028563

Summaries for STX1B Gene

Entrez Gene Summary for STX1B Gene

  • The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson's disease has also been suggested. [provided by RefSeq, Jan 2015]

GeneCards Summary for STX1B Gene

STX1B (Syntaxin 1B) is a Protein Coding gene. Diseases associated with STX1B include Generalized Epilepsy With Febrile Seizures Plus, Type 9 and Generalized Epilepsy With Febrile Seizures Plus. Among its related pathways are Synaptic vesicle cycle and LGI-ADAM interactions. Gene Ontology (GO) annotations related to this gene include protein kinase binding and SNARE binding. An important paralog of this gene is STX1A.

UniProtKB/Swiss-Prot Summary for STX1B Gene

  • Potentially involved in docking of synaptic vesicles at presynaptic active zones. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm (By similarity).

Gene Wiki entry for STX1B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for STX1B Gene

Genomics for STX1B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for STX1B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around STX1B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for STX1B

Top Transcription factor binding sites by QIAGEN in the STX1B gene promoter:
  • aMEF-2
  • ARP-1
  • Egr-1
  • HNF-3beta
  • MEF-2A
  • NF-E2
  • NF-E2 p45
  • RREB-1
  • Sp1
  • STAT1

Genomic Locations for STX1B Gene

Genomic Locations for STX1B Gene
chr16:30,989,256-31,010,638
(GRCh38/hg38)
Size:
21,383 bases
Orientation:
Minus strand
chr16:31,000,577-31,021,949
(GRCh37/hg19)
Size:
21,373 bases
Orientation:
Minus strand

Genomic View for STX1B Gene

Genes around STX1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STX1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STX1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STX1B Gene

Proteins for STX1B Gene

  • Protein details for STX1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61266-STX1B_HUMAN
    Recommended name:
    Syntaxin-1B
    Protein Accession:
    P61266
    Secondary Accessions:
    • Q15531
    • Q2VPS2

    Protein attributes for STX1B Gene

    Size:
    288 amino acids
    Molecular mass:
    33245 Da
    Quaternary structure:
    • Interacts with OTOF. Interacts with SYT6 and SYT8; the interaction is Ca(2+)-dependent (By similarity).
    Miscellaneous:
    • [Isoform 2]: The glycine-rich C-terminus serves as an unconventional nuclear localization signal.

    Alternative splice isoforms for STX1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STX1B Gene

Post-translational modifications for STX1B Gene

Other Protein References for STX1B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for STX1B Gene

Domains & Families for STX1B Gene

Gene Families for STX1B Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for STX1B Gene

InterPro:
Blocks:
  • Syntaxin, N-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for STX1B Gene

GenScript: Design optimal peptide antigens:
  • Syntaxin 1B alternative isoform deltaTM (Q2VPS2_HUMAN)
  • Syntaxin-1B2 (STX1B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P61266

UniProtKB/Swiss-Prot:

STX1B_HUMAN :
  • Belongs to the syntaxin family.
Family:
  • Belongs to the syntaxin family.
genes like me logo Genes that share domains with STX1B: view

Function for STX1B Gene

Molecular function for STX1B Gene

UniProtKB/Swiss-Prot Function:
Potentially involved in docking of synaptic vesicles at presynaptic active zones. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm (By similarity).
GENATLAS Biochemistry:
syntaxin 1B,brain,forming a synaptic core complex with synaptosome associated proteins,and synaptobrevin,binding to N-type Ca2+ channels,involved in vesicular transport and in Ca2 dependent synaptic transmission,soluble N ethylmaleimide-sensitive factor-attachment protein receptor,SNARE protein

Phenotypes From GWAS Catalog for STX1B Gene

Gene Ontology (GO) - Molecular Function for STX1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding IBA 21873635
GO:0005102 signaling receptor binding IEA --
GO:0005484 SNAP receptor activity IBA 21873635
GO:0019901 protein kinase binding ISS --
GO:0019904 protein domain specific binding IEA --
genes like me logo Genes that share ontologies with STX1B: view
genes like me logo Genes that share phenotypes with STX1B: view

Human Phenotype Ontology for STX1B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for STX1B Gene

MGI Knock Outs for STX1B:

Animal Model Products

  • Taconic Biosciences Mouse Models for STX1B

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STX1B

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for STX1B Gene

Localization for STX1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for STX1B Gene

[Isoform 1]: Membrane. Single-pass type IV membrane protein.
[Isoform 2]: Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Note=Colocalizes with Lamin A/C and NuMA in interphasic nuclei, and with NuMA and gamma-tubulin in the pericentrosomal region of the mitotic spindle in dividing cells.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for STX1B gene
Compartment Confidence
cytosol 5
plasma membrane 4
cytoskeleton 4
nucleus 4
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for STX1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005819 spindle IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with STX1B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for STX1B Gene

Pathways & Interactions for STX1B Gene

genes like me logo Genes that share pathways with STX1B: view

Pathways by source for STX1B Gene

1 Qiagen pathway for STX1B Gene
  • Epithelial Tight Junctions

Gene Ontology (GO) - Biological Process for STX1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001956 positive regulation of neurotransmitter secretion ISS --
GO:0006836 neurotransmitter transport IEA --
GO:0006886 intracellular protein transport IBA 21873635
GO:0006887 exocytosis IBA 21873635
GO:0006904 vesicle docking involved in exocytosis ISS --
genes like me logo Genes that share ontologies with STX1B: view

No data available for SIGNOR curated interactions for STX1B Gene

Drugs & Compounds for STX1B Gene

(1) Drugs for STX1B Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Warfarin Approved Pharma 609
genes like me logo Genes that share compounds with STX1B: view

Transcripts for STX1B Gene

mRNA/cDNA for STX1B Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STX1B

Alternative Splicing Database (ASD) splice patterns (SP) for STX1B Gene

No ASD Table

Relevant External Links for STX1B Gene

GeneLoc Exon Structure for
STX1B

Expression for STX1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for STX1B Gene

mRNA differential expression in normal tissues according to GTEx for STX1B Gene

This gene is overexpressed in Brain - Cerebellum (x7.0), Brain - Cortex (x6.8), Brain - Cerebellar Hemisphere (x6.4), Brain - Frontal Cortex (BA9) (x5.8), and Brain - Anterior cingulate cortex (BA24) (x4.5).

Protein differential expression in normal tissues from HIPED for STX1B Gene

This gene is overexpressed in Frontal cortex (34.6), Brain (19.6), and Fetal Brain (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for STX1B Gene



Protein tissue co-expression partners for STX1B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for STX1B

SOURCE GeneReport for Unigene cluster for STX1B Gene:

Hs.542230

Evidence on tissue expression from TISSUES for STX1B Gene

  • Nervous system(4.8)
  • Eye(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for STX1B Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • head
genes like me logo Genes that share expression patterns with STX1B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for STX1B Gene

Orthologs for STX1B Gene

This gene was present in the common ancestor of animals.

Orthologs for STX1B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia STX1B 30 31
  • 99.88 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia STX1B 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia STX1B 30 31
  • 95.56 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia STX1B 30 31
  • 93.63 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Stx1b 30 17 31
  • 92.13 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Stx1b 30
  • 90.97 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 66 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia STX1B 31
  • 98 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia stx1b 30
  • 84.03 (n)
Zebrafish
(Danio rerio)
Actinopterygii stx1b 30 31
  • 82.18 (n)
OneToOne
syntaxin1b 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12062 30
Fruit Fly
(Drosophila melanogaster)
Insecta Syx1A 31
  • 67 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea unc-64 31
  • 57 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 59 (a)
OneToMany
Species where no ortholog for STX1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for STX1B Gene

ENSEMBL:
Gene Tree for STX1B (if available)
TreeFam:
Gene Tree for STX1B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for STX1B: view image

Paralogs for STX1B Gene

(11) SIMAP similar genes for STX1B Gene using alignment to 2 proteins:

  • STX1B_HUMAN
  • H3BT82_HUMAN
genes like me logo Genes that share paralogs with STX1B: view

Variants for STX1B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for STX1B Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
639992 Uncertain Significance: Generalized epilepsy with febrile seizures plus, type 9 31,001,136(-) T/G MISSENSE_VARIANT
645332 Uncertain Significance: Generalized epilepsy with febrile seizures plus, type 9 30,996,946(-) C/G INTRON_VARIANT
646154 Uncertain Significance: Generalized epilepsy with febrile seizures plus, type 9 31,010,396(-) T/C INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT
646551 Likely Pathogenic: Generalized epilepsy with febrile seizures plus, type 9 30,997,501(-) C/T SPLICE_DONOR_VARIANT
653738 Uncertain Significance: Generalized epilepsy with febrile seizures plus, type 9 30,992,840(-) C/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for STX1B Gene

Structural Variations from Database of Genomic Variants (DGV) for STX1B Gene

Variant ID Type Subtype PubMed ID
dgv35n68 CNV loss 17160897
esv3306511 CNV mobile element insertion 20981092
esv3341263 CNV insertion 20981092
nsv457483 CNV loss 19166990
nsv571820 CNV loss 21841781
nsv833193 CNV gain+loss 17160897
nsv953802 CNV deletion 24416366

Variation tolerance for STX1B Gene

Residual Variation Intolerance Score: 30.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.21; 4.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STX1B Gene

Human Gene Mutation Database (HGMD)
STX1B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STX1B

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STX1B Gene

Disorders for STX1B Gene

MalaCards: The human disease database

(12) MalaCards diseases for STX1B Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
generalized epilepsy with febrile seizures plus, type 9
  • gefsp9
generalized epilepsy with febrile seizures plus
  • gefs+
visual epilepsy
  • epilepsy, visual
febrile seizures
  • seizures febrile
epilepsy
  • epilepsy syndrome
- elite association - COSMIC cancer census association via MalaCards
Search STX1B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

STX1B_HUMAN
  • Generalized epilepsy with febrile seizures plus 9 (GEFSP9) [MIM:616172]: An autosomal dominant neurologic disorder characterized by febrile and/or afebrile seizures manifesting in early childhood. Seizure are variable and include generalized tonic-clonic, atonic, myoclonic, complex partial, and absence types. Most patients have remission of seizures later in childhood with no residual neurologic deficits. Rarely, patients may show mild developmental delay or mild intellectual disabilities. {ECO:0000269 PubMed:25362483}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with STX1B: view

No data available for Genatlas for STX1B Gene

Publications for STX1B Gene

  1. Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. (PMID: 25362483) Schubert J … Lerche H (Nature genetics 2014) 3 4
  2. Nuclear localization of a novel human syntaxin 1B isoform. (PMID: 18691641) Pereira S … Szepetowski P (Gene 2008) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Association of three candidate genetic variants in ACMSD/TMEM163, GPNMB and BCKDK /STX1B with sporadic Parkinson's disease in Han Chinese. (PMID: 30880162) Wang L … Peng R (Neuroscience letters 2019) 3

Products for STX1B Gene

Sources for STX1B Gene