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Aliases for STXBP6 Gene

Aliases for STXBP6 Gene

  • Syntaxin Binding Protein 6 2 3 5
  • Amisyn 3 4
  • Syntaxin-Binding Protein 6 3
  • HSPC156 3

External Ids for STXBP6 Gene

Previous GeneCards Identifiers for STXBP6 Gene

  • GC14M019066
  • GC14M023268
  • GC14M023271
  • GC14M024348
  • GC14M025278
  • GC14M005395

Summaries for STXBP6 Gene

Entrez Gene Summary for STXBP6 Gene

  • STXBP6 binds components of the SNARE complex (see MIM 603215) and may be involved in regulating SNARE complex formation (Scales et al., 2002 [PubMed 12145319]).[supplied by OMIM, Mar 2008]

GeneCards Summary for STXBP6 Gene

STXBP6 (Syntaxin Binding Protein 6) is a Protein Coding gene. Diseases associated with STXBP6 include Deafness, Autosomal Dominant 53 and Deafness, Autosomal Recessive 5. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol-4,5-bisphosphate binding and GTP-Rho binding. An important paralog of this gene is EXOC1.

UniProtKB/Swiss-Prot for STXBP6 Gene

  • Forms non-fusogenic complexes with SNAP25 and STX1A and may thereby modulate the formation of functional SNARE complexes and exocytosis.

Additional gene information for STXBP6 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STXBP6 Gene

Genomics for STXBP6 Gene

GeneHancer (GH) Regulatory Elements for STXBP6 Gene

Promoters and enhancers for STXBP6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I025048 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 573.5 +0.6 636 3.1 PKNOX1 ARNT ZFP64 DMAP1 ZNF48 TCF12 ATF7 MXD4 PPARG ZNF592 STXBP6 NYNRIN NFATC4 RNF31 PIR50915
GH14I025032 Promoter/Enhancer 1.4 EPDnew ENCODE 566.2 +17.8 17827 0.6 HDGF ELF3 ARID4B DMAP1 DNMT3B RAD21 ZNF143 THAP11 SMARCA5 KLF11 STXBP6 PIR50915
GH14I025108 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 68.6 -60.0 -60038 3.6 NFIA NFIB ZNF195 NFIC LCORL ATF3 ZNF544 SCRT2 ZNF350 FOS STXBP6 RNA5SP383 LINC02286
GH14I024984 Enhancer 1.1 Ensembl ENCODE 28.3 +65.1 65126 1.7 HDAC1 ATF1 CHAMP1 TCF12 ZNF766 GATA2 SCRT2 ZNF350 SIRT6 ETV6 STXBP6 ENSG00000259321 RNA5SP383 SDR39U1 PIR50915
GH14I025090 Enhancer 0.8 Ensembl ENCODE 37.4 -41.0 -40972 1.4 SMARCE1 DPF2 GATA3 ZFHX2 IKZF1 CREB1 FOS FOSL2 IKZF2 TCF7L2 STXBP6 LINC02286
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around STXBP6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the STXBP6 gene promoter:

Genomic Locations for STXBP6 Gene

Genomic Locations for STXBP6 Gene
chr14:24,809,654-25,050,297
(GRCh38/hg38)
Size:
240,644 bases
Orientation:
Minus strand
chr14:25,278,862-25,519,503
(GRCh37/hg19)

Genomic View for STXBP6 Gene

Genes around STXBP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STXBP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STXBP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STXBP6 Gene

Proteins for STXBP6 Gene

  • Protein details for STXBP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFX7-STXB6_HUMAN
    Recommended name:
    Syntaxin-binding protein 6
    Protein Accession:
    Q8NFX7
    Secondary Accessions:
    • D3DS78
    • Q8N3H1
    • Q8N8D5
    • Q96GF3
    • Q9P008

    Protein attributes for STXBP6 Gene

    Size:
    210 amino acids
    Molecular mass:
    23554 Da
    Quaternary structure:
    • Part of a ternary complex containing SNAP25 and STX1A that can be dissociated by NAPA and NSF. Interacts with STX4A.
    SequenceCaution:
    • Sequence=AAM46624.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for STXBP6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STXBP6 Gene

Post-translational modifications for STXBP6 Gene

No Post-translational modifications

No data available for DME Specific Peptides for STXBP6 Gene

Domains & Families for STXBP6 Gene

Gene Families for STXBP6 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for STXBP6 Gene

Suggested Antigen Peptide Sequences for STXBP6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with STXBP6: view

No data available for UniProtKB/Swiss-Prot for STXBP6 Gene

Function for STXBP6 Gene

Molecular function for STXBP6 Gene

UniProtKB/Swiss-Prot Function:
Forms non-fusogenic complexes with SNAP25 and STX1A and may thereby modulate the formation of functional SNARE complexes and exocytosis.

Phenotypes From GWAS Catalog for STXBP6 Gene

Gene Ontology (GO) - Molecular Function for STXBP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IBA --
GO:0017049 GTP-Rho binding IBA --
GO:0098641 cadherin binding involved in cell-cell adhesion IDA 25468996
genes like me logo Genes that share ontologies with STXBP6: view
genes like me logo Genes that share phenotypes with STXBP6: view

Animal Model Products

miRNA for STXBP6 Gene

miRTarBase miRNAs that target STXBP6

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for STXBP6 Gene

Localization for STXBP6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STXBP6 Gene

Cytoplasm. Membrane; Peripheral membrane protein.

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 STXBP6 gene
Compartment Confidence
plasma membrane 3
cytosol 3
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for STXBP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000145 exocyst IBA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IBA --
GO:0005913 cell-cell adherens junction IDA 25468996
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with STXBP6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for STXBP6 Gene

Pathways & Interactions for STXBP6 Gene

SuperPathways for STXBP6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for STXBP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006893 Golgi to plasma membrane transport IBA --
GO:0016192 vesicle-mediated transport IEA --
GO:0035542 regulation of SNARE complex assembly IDA 12145319
GO:0045920 negative regulation of exocytosis TAS 15217342
GO:0051601 exocyst localization IBA --
genes like me logo Genes that share ontologies with STXBP6: view

No data available for Pathways by source and SIGNOR curated interactions for STXBP6 Gene

Drugs & Compounds for STXBP6 Gene

No Compound Related Data Available

Transcripts for STXBP6 Gene

Unigene Clusters for STXBP6 Gene

Syntaxin binding protein 6 (amisyn):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for STXBP6 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10
SP1: - - - -
SP2:
SP3: - - - -
SP4: - - - -

Relevant External Links for STXBP6 Gene

GeneLoc Exon Structure for
STXBP6
ECgene alternative splicing isoforms for
STXBP6

Expression for STXBP6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for STXBP6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for STXBP6 Gene

This gene is overexpressed in Spinal cord (18.1), Frontal cortex (15.3), and Fetal Brain (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for STXBP6 Gene



Protein tissue co-expression partners for STXBP6 Gene

NURSA nuclear receptor signaling pathways regulating expression of STXBP6 Gene:

STXBP6

SOURCE GeneReport for Unigene cluster for STXBP6 Gene:

Hs.508958

mRNA Expression by UniProt/SwissProt for STXBP6 Gene:

Q8NFX7-STXB6_HUMAN
Tissue specificity: Detected at low levels in brain, and at very low levels in heart, adrenal gland, testis, liver and kidney.

Evidence on tissue expression from TISSUES for STXBP6 Gene

  • Nervous system(4.6)
  • Intestine(4.2)
  • Skin(4.2)
  • Blood(4)
genes like me logo Genes that share expression patterns with STXBP6: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for STXBP6 Gene

Orthologs for STXBP6 Gene

This gene was present in the common ancestor of animals.

Orthologs for STXBP6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia STXBP6 33 34
  • 99.68 (n)
oppossum
(Monodelphis domestica)
Mammalia STXBP6 34
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia STXBP6 34
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Stxbp6 33
  • 93.49 (n)
dog
(Canis familiaris)
Mammalia STXBP6 33 34
  • 93.17 (n)
cow
(Bos Taurus)
Mammalia STXBP6 33 34
  • 92.86 (n)
mouse
(Mus musculus)
Mammalia Stxbp6 33 16 34
  • 92.86 (n)
chicken
(Gallus gallus)
Aves STXBP6 33 34
  • 85.08 (n)
lizard
(Anolis carolinensis)
Reptilia STXBP6 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stxbp6 33
  • 74.76 (n)
Str.2147 33
African clawed frog
(Xenopus laevis)
Amphibia MGC68796 33
zebrafish
(Danio rerio)
Actinopterygii stxbp6 33
  • 70.79 (n)
STXBP6 (2 of 2) 34
  • 66 (a)
OneToMany
stxbp6l 34
  • 36 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta sec3 34
  • 5 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sec-3 34
  • 6 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
OneToOne
Species where no ortholog for STXBP6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 STXBP6 Gene

ENSEMBL:
Gene Tree for STXBP6 (if available)
TreeFam:
Gene Tree for STXBP6 (if available)

Paralogs for STXBP6 Gene

Paralogs for STXBP6 Gene

(1) SIMAP similar genes for STXBP6 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with STXBP6: view

Variants for STXBP6 Gene

Sequence variations from dbSNP and Humsavar for STXBP6 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000000652 -- 24,913,212(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000017727 -- 25,004,530(-) A/C genic_upstream_transcript_variant, intron_variant
rs1000020753 -- 25,024,452(-) A/C genic_upstream_transcript_variant, intron_variant
rs1000021041 -- 24,933,427(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000035093 -- 24,938,998(-) A/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for STXBP6 Gene

Variant ID Type Subtype PubMed ID
esv21738 CNV loss 19812545
esv25325 CNV loss 19812545
esv3551260 CNV deletion 23714750
esv3581086 CNV loss 25503493
esv3633817 CNV loss 21293372
nsv1047792 CNV loss 25217958
nsv456169 CNV gain 19166990
nsv525203 CNV gain 19592680
nsv527684 CNV loss 19592680
nsv564071 CNV gain 21841781

Variation tolerance for STXBP6 Gene

Residual Variation Intolerance Score: 26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.47; 10.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STXBP6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
STXBP6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STXBP6 Gene

Disorders for STXBP6 Gene

MalaCards: The human disease database

(4) MalaCards diseases for STXBP6 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for STXBP6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with STXBP6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for STXBP6 Gene

Publications for STXBP6 Gene

  1. Amisyn, a novel syntaxin-binding protein that may regulate SNARE complex assembly. (PMID: 12145319) Scales SJ … Scheller RH (The Journal of biological chemistry 2002) 2 3 4 58
  2. Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. (PMID: 21738478) Okada Y … Kamatani N (PLoS genetics 2011) 3 44 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. 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 58

Products for STXBP6 Gene

Sources for STXBP6 Gene

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