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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
External Ids for STX1B Gene
- HGNC: 18539
- Entrez Gene: 112755
- Ensembl: ENSG00000099365
- OMIM: 601485
- UniProtKB: P61266
Previous HGNC Symbols for STX1B Gene
- STX1B1
- STX1B2
Previous GeneCards Identifiers for STX1B Gene
- GC16M030912
- GC16M031000
- GC16M028563
Summaries 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).
Additional gene information for STX1B Gene
- HGNC(18539)
- Entrez Gene(112755)
- Ensembl(ENSG00000099365)
- OMIM(601485)
- UniProtKB(P61266)
- Open Targets Platform(ENSG00000099365)
- Monarch Initiative
- Search for STX1B at DataMed
- Search for STX1B at HumanCyc
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:
-
- 16p11.2 by HGNC
- 16p11.2 by Entrez Gene
- 16p11.2 by Ensembl
STX1B Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for STX1B Gene
Post-translational modifications for STX1B Gene
- Phosphorylated by CK2.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for STX1B Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for STX1B
- Novus Biologicals Antibodies for STX1B
-
Abcam antibodies for STX1B
- Invitrogen Antibodies for STX1B (AFLGC-Stx1b)
-
Santa Cruz Biotechnology (SCBT) Antibodies for STX1B
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for STX1B
- Origene Custom Protein Services for STX1B
- Novus Biologicals lysates for STX1B
- antibodies-online: Show 7 available STX1B Proteins ranked by validation data
- Compare Top STX1B Proteins
-
Quality Products:
-
Abcam proteins for STX1B
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- Family:
-
- Belongs to the syntaxin family.
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
| 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 | -- |
Phenotypes for STX1B Gene
- MGI mutant phenotypes for STX1B:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for STX1B:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased shRNA abundance (Z-score < -2)
- Strongly decreased CFP-tsO45G cell surface transport
- Increased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Increased transcriptional activity
- Increased shRNA abundance (Z-score > 2)
Animal Models for STX1B Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for STX1B
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for STX1B - Select products 50% OFF >
- * STX1B CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
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-
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-
Santa Cruz Biotechnology (SCBT) CRISPR for STX1B
miRNA for STX1B Gene
- miRTarBase miRNAs that target STX1B
-
- hsa-miR-330-5p (MIRT038244)
- mmu-miR-362-3p (MIRT580662)
- mmu-miR-466i-3p (MIRT580663)
- mmu-miR-329-3p (MIRT580664)
- hsa-miR-8064 (MIRT608494)
- hsa-miR-6865-3p (MIRT608495)
- hsa-miR-4643 (MIRT608496)
- hsa-miR-8485 (MIRT608497)
- hsa-miR-4638-3p (MIRT612251)
- hsa-miR-4254 (MIRT612252)
- hsa-miR-3690 (MIRT612253)
- hsa-miR-3941 (MIRT621453)
- hsa-miR-5689 (MIRT621454)
- hsa-miR-1225-3p (MIRT621455)
- hsa-miR-20a-3p (MIRT621456)
- hsa-miR-4536-3p (MIRT621457)
- hsa-miR-6767-3p (MIRT621458)
- hsa-miR-6769a-3p (MIRT621459)
- hsa-miR-6856-5p (MIRT621460)
- hsa-miR-6758-5p (MIRT621461)
- hsa-miR-4793-5p (MIRT636026)
- hsa-miR-6783-3p (MIRT653025)
- hsa-miR-1343-3p (MIRT653026)
- hsa-miR-6742-3p (MIRT653027)
- hsa-miR-6852-5p (MIRT653028)
- hsa-miR-939-3p (MIRT653029)
- hsa-miR-660-3p (MIRT653030)
- hsa-miR-4667-3p (MIRT653031)
- hsa-miR-3152-5p (MIRT712017)
- hsa-miR-4642 (MIRT712018)
- hsa-miR-6836-3p (MIRT712019)
- hsa-miR-3189-3p (MIRT712020)
- hsa-miR-212-5p (MIRT712021)
- hsa-miR-6891-3p (MIRT712022)
- hsa-miR-6072 (MIRT712023)
- hsa-miR-545-5p (MIRT712024)
- hsa-miR-802 (MIRT712025)
- hsa-miR-3143 (MIRT720008)
- hsa-miR-543 (MIRT720009)
- hsa-miR-1180-5p (MIRT761191)
- hsa-miR-4802-3p (MIRT772557)
- hsa-miR-5187-5p (MIRT773536)
- hsa-miR-551a (MIRT774628)
- hsa-miR-551b-3p (MIRT774629)
- hsa-miR-6728-5p (MIRT777940)
- hsa-miR-7114-3p (MIRT781480)
- hsa-miR-942-3p (MIRT782977)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for STX1B
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Clone Products
- Applied Biological Materials (abm): Clones for STX1B - Select products 50% OFF >
- * STX1B as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for STX1B
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for STX1B
Cell Line Products
-
Horizon Cell Lines 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.
| 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 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for STX1B Gene
Pathways & Interactions for STX1B Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Uptake and actions of bacterial toxins | ||
| 2 | Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics | ||
| 3 | Synaptic vesicle cycle | ||
| 4 | HIV Life Cycle |
.45
|
|
| 5 | Sertoli-Sertoli Cell Junction Dynamics |
Epithelial Tight Junctions
.36
|
|
Pathways by source for STX1B Gene
1 BioSystems pathway for STX1B Gene
7 Reactome pathways for STX1B Gene
1 PharmGKB pathway for STX1B Gene
2 KEGG pathways for STX1B Gene
1 Qiagen pathway for STX1B Gene
- Epithelial Tight Junctions
Interacting Proteins for STX1B Gene
Selected Interacting proteins:
P61266-STX1B_HUMAN
ENSP00000215095
for STX1B Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for STX1B
| 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 | -- |
No data available for SIGNOR curated interactions for STX1B Gene
Drugs & Compounds for STX1B Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Warfarin | Approved | Pharma | 609 |
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 :
-
- ENST00000215095 4674 nts (view in UCSC)
- ENST00000565419 834 nts (view in UCSC)
- ENST00000566211 652 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for STX1B - Select products 50% OFF >
- * STX1B CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for STX1B
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for STX1B
-
Santa Cruz Biotechnology (SCBT) CRISPR for STX1B
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for STX1B
- Browse OriGene Inhibitory RNA Products For STX1B
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STX1B
Clone Products
- Applied Biological Materials (abm): Clones for STX1B - Select products 50% OFF >
- * STX1B as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for STX1B
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for STX1B
Relevant External Links for STX1B Gene
- GeneLoc Exon Structure for
- STX1B
Expression 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).
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for STX1B
SOURCE GeneReport for Unigene cluster for STX1B Gene:
Hs.542230Evidence 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
Primer Products
-
OriGene qPCR primer pairs for STX1B
-
OriGene qPCR primer pairs and template standards for STX1B
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | STX1B 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | STX1B 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | STX1B 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | STX1B 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Stx1b 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Stx1b 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | STX1B 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | stx1b 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | stx1b 30 31 |
|
OneToOne | |
| syntaxin1b 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.12062 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Syx1A 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | unc-64 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
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
Paralogs for STX1B Gene
(11) SIMAP similar genes for STX1B Gene using alignment to 2 proteins:
- STX1B_HUMAN
- H3BT82_HUMAN
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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STX1B Gene
Disorders for STX1B Gene
(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 |
|
|
| generalized epilepsy with febrile seizures plus |
|
|
| visual epilepsy |
|
|
| febrile seizures |
|
|
| epilepsy |
|
|
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.
Additional Disease Information for STX1B
No data available for Genatlas for STX1B Gene
Publications for STX1B Gene
- Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. (PMID: 25362483) Schubert J … Lerche H (Nature genetics 2014) 3 4
- Nuclear localization of a novel human syntaxin 1B isoform. (PMID: 18691641) Pereira S … Szepetowski P (Gene 2008) 3 4
- 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
- A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
- 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
ExternalLinks
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- Browse Lysates
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- Abcam antibodies for STX1B
- Abcam proteins for STX1B
- Find your target
- Browse Primary Antibodies
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- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Taconic Biosciences Mouse Models for STX1B
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for STX1B (AFLGC-Stx1b)
- VectorBuilder Custom and pre-made DNA vectors for STX1B (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for STX1B (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for STX1B (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for STX1B CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for STX1B
- antibodies-online: Show 6 available STX1B Antibodies ranked by validation data
- Compare Top STX1B Antibodies
- antibodies-online: Search results for available STX1B related products ranked by validation data
- antibodies-online: Show 7 available STX1B Proteins ranked by validation data
- Compare Top STX1B Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for STX1B
- Search Santa Cruz Biotechnology (SCBT) for STX1B siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for STX1B
- Horizon Cell Lines for STX1B
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for STX1B
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for STX1B
- Search GeneCopoeia for miRNA 3'UTR Target clone products for STX1B
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STX1B
Sources for STX1B Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB