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Aliases for STX1B Gene

Aliases for STX1B Gene

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

External Ids for STX1B Gene

Previous HGNC Symbols for STX1B Gene

  • STX1B1
  • STX1B2

Previous GeneCards Identifiers for STX1B Gene

  • GC16M030912
  • 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 Stx1b-Related Generalized Epilepsy With Febrile Seizures Plus. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and HIV Life Cycle. GO annotations related to this gene include protein kinase binding and SNARE binding. An important paralog of this gene is STX1A.

UniProtKB/Swiss-Prot 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

Additional gene information for STX1B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STX1B Gene

Genomics for STX1B Gene

Regulatory Elements for STX1B Gene

Enhancers for STX1B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H030939 1.2 Ensembl ENCODE 11.1 +69.1 69125 3 HDGF PKNOX1 ARID4B ZNF2 YY1 GLIS2 ELK1 ZNF416 ZNF143 ATF7 HSD3B7 ZNF668 TGFB1I1 KAT8 SETD1A ZNF646 MIR762 CTF1 BCL7C CCDC189
GH16H031063 1.1 Ensembl ENCODE dbSUPER 10.1 -54.4 -54390 3 SP2 SIN3A ZIC2 FOSL1 JUND POLR2A CUX1 FOS EZH2 KAT8 ENSG00000260911 HSD3B7 STX1B PIR62408 PIR50865
GH16H031404 1.1 Ensembl ENCODE 10 -394.1 -394067 1 TBP PKNOX1 NFIB ZNF76 KLF17 ZBTB40 ZNF366 ZNF143 EGR2 SP3 COX6A2 ARMC5 PRSS8 PRSS36 PYCARD STX4 STX1B ENSG00000260740 ENSG00000260757 ENSG00000277543
GH16H031386 1 Ensembl ENCODE 10.3 -376.0 -375974 0 HDAC1 MAX SIN3A CEBPG BMI1 FOSL1 ZFHX2 ZNF766 GATA3 HSF1 SETD1A ENSG00000261614 ENSG00000260304 ITGAX PYCARD COX6A2 HSD3B7 PRSS36 STX4 STX1B
GH16H030995 1.1 ENCODE 8.6 +12.8 12754 4 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B DMAP1 YY1 SLC30A9 SETD1A SRCAP ENSG00000260267 C16orf58 ZNF747 BCL7C SMG1P5 ZNF764 NPIPB13 ENSG00000260304
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around STX1B on UCSC Golden Path with GeneCards custom track

Promoters for STX1B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000085286 -39 601 POLR2A NRF1 ETS1

Genomic Location for STX1B Gene

Chromosome:
16
Start:
30,989,256 bp from pter
End:
31,010,661 bp from pter
Size:
21,406 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).

    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:

Antibody Products

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

Suggested Antigen Peptide Sequences for STX1B Gene

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

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
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).

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 --
GO:0005102 receptor binding IEA --
GO:0005484 SNAP receptor activity IBA --
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

Clone Products

  • Applied Biological Materials Clones for STX1B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
nucleus 5
cytosol 5
plasma membrane 4
cytoskeleton 4
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

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:0006810 transport IEA --
GO:0006836 neurotransmitter transport IEA --
GO:0006886 intracellular protein transport IBA --
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 493
genes like me logo Genes that share compounds with STX1B: view

Transcripts for STX1B Gene

mRNA/cDNA for STX1B Gene

Unigene Clusters for STX1B Gene

Syntaxin 1B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for STX1B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for STX1B Gene

GeneLoc Exon Structure for
STX1B
ECgene alternative splicing isoforms for
STX1B

Expression for STX1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for STX1B Gene



Protein tissue co-expression partners for STX1B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of STX1B Gene:

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(4.3)

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

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

Primer Products

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 33 34
  • 99.88 (n)
oppossum
(Monodelphis domestica)
Mammalia STX1B 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia STX1B 33 34
  • 95.56 (n)
cow
(Bos Taurus)
Mammalia STX1B 33 34
  • 93.63 (n)
mouse
(Mus musculus)
Mammalia Stx1b 33 16 34
  • 92.13 (n)
rat
(Rattus norvegicus)
Mammalia Stx1b 33
  • 90.97 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 66 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia STX1B 34
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stx1b 33
  • 84.03 (n)
zebrafish
(Danio rerio)
Actinopterygii stx1b 33 34
  • 82.18 (n)
syntaxin1b 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12062 33
fruit fly
(Drosophila melanogaster)
Insecta Syx1A 34
  • 67 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-64 34
  • 57 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 59 (a)
OneToMany
Species where no ortholog for STX1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for STX1B Gene

Paralogs for STX1B Gene

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

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

Variants for STX1B Gene

Sequence variations from dbSNP and Humsavar for STX1B Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs724159974 Pathogenic, Generalized epilepsy with febrile seizures plus 9 (GEFSP9) [MIM:616172] 30,993,375(-) GTTTG(A/T)GGACA reference, missense
rs727502806 Pathogenic, Generalized epilepsy with febrile seizures plus 9 (GEFSP9) [MIM:616172] 30,993,240(-) TGCAG(C/G)GAGAG reference, missense
rs200979563 Pathogenic 31,001,159(+) CCTCC(A/G/T)ACAGT reference, missense
rs724159973 Pathogenic 31,001,133(-) AAAAA(C/T)AGCAT reference, stop-gained
rs886041666 Pathogenic 31,001,576(-) AGGAG(-/G)TGGTC reference, frameshift-variant

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)

Relevant External Links for STX1B Gene

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

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

Disorders for STX1B Gene

MalaCards: The human disease database

(5) MalaCards diseases for STX1B Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
generalized epilepsy with febrile seizures plus, type 9
  • generalized epilepsy with febrile seizures plus 9
stx1b-related generalized epilepsy with febrile seizures plus
  • generalized epilepsy with febrile seizures plus, type 9
generalized epilepsy with febrile seizures plus
  • gefs+
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.

Relevant External Links for STX1B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
STX1B
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 60
  2. Nuclear localization of a novel human syntaxin 1B isoform. (PMID: 18691641) Pereira S … Szepetowski P (Gene 2008) 3 4 60
  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 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. Impact of GGCX, STX1B and FPGS Polymorphisms on Warfarin Dose Requirements in European-Americans and Egyptians. (PMID: 26751406) Hamadeh IS … Johnson JA (Clinical and translational science 2016) 3 60

Products for STX1B Gene

Sources for STX1B Gene

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