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Aliases for STX8 Gene

Aliases for STX8 Gene

  • Syntaxin 8 2 3 5
  • CIP-1-Associated Regulator Of Cyclin B 3
  • Syntaxin-8 3
  • CARB 3

External Ids for STX8 Gene

Previous GeneCards Identifiers for STX8 Gene

  • GC17M009501
  • GC17M010245
  • GC17M009096
  • GC17M009354
  • GC17M009094
  • GC17M009153

Summaries for STX8 Gene

Entrez Gene Summary for STX8 Gene

  • The gene is a member of the syntaxin family. The encoded protein is involved in protein trafficking from early to late endosomes via vesicle fusion and exocytosis. A related pseudogene has been identified on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

GeneCards Summary for STX8 Gene

STX8 (Syntaxin 8) is a Protein Coding gene. Diseases associated with STX8 include Neuronal Ceroid Lipofuscinosis. Among its related pathways are wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF) and wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF). GO annotations related to this gene include ubiquitin protein ligase binding and SNAP receptor activity.

UniProtKB/Swiss-Prot for STX8 Gene

  • Vesicle trafficking protein that functions in the early secretory pathway, possibly by mediating retrograde transport from cis-Golgi membranes to the ER.

Gene Wiki entry for STX8 Gene

Additional gene information for STX8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STX8 Gene

Genomics for STX8 Gene

Regulatory Elements for STX8 Gene

Enhancers for STX8 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
GH17H009431 1 Ensembl ENCODE 13.8 +143.9 143946 2 PKNOX1 TBL1XR1 MAX BATF RELA SCRT2 ETV6 ATF7 RUNX3 IKZF2 STX8 GC17P009447 GC17M009366
GH17H009643 1.3 Ensembl ENCODE 10.6 -70.2 -70176 5 PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 FOS STX8 CFAP52 ENSG00000265349 ENSG00000262296
GH17H008628 1.7 FANTOM5 ENCODE dbSUPER 5.9 +946.1 946081 4 PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 ZNF143 ENSG00000265749 CNTROB WRAP53 PFAS ENSG00000271029 LOC105371517 CTC1 SLC25A35 STX8 VAMP2
GH17H009676 0.7 ENCODE 11.2 -100.7 -100728 1 CTCF JUN BATF RAD21 FOSL1 FOSL2 FOS NFE2 RUNX3 STAT1 USP43 STX8 CFAP52 GC17P009688 ENSG00000262296
GH17H009289 1.1 Ensembl ENCODE 4.9 +285.2 285239 3 HDGF PKNOX1 TBL1XR1 RB1 SIN3A BMI1 YBX1 BATF RAD21 ZNF143 NTN1 STX8 GC17M009268 GC17P009311
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around STX8 on UCSC Golden Path with GeneCards custom track

Promoters for STX8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000282375 791 2001 MLX ARID4B SIN3A DMAP1 YY1 DEK SP3 SP5 ZHX2 REST

Genomic Location for STX8 Gene

Chromosome:
17
Start:
9,250,471 bp from pter
End:
9,576,591 bp from pter
Size:
326,121 bases
Orientation:
Minus strand

Genomic View for STX8 Gene

Genes around STX8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STX8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STX8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STX8 Gene

Proteins for STX8 Gene

  • Protein details for STX8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UNK0-STX8_HUMAN
    Recommended name:
    Syntaxin-8
    Protein Accession:
    Q9UNK0
    Secondary Accessions:
    • O60712
    • Q53XT8

    Protein attributes for STX8 Gene

    Size:
    236 amino acids
    Molecular mass:
    26907 Da
    Quaternary structure:
    • Forms a SNARE complex with STX7, VTI1B and VAMP8 which functions in the homotypic fusion of late endosomes. Part of the SNARE core complex containing STX7, VAMP8 and VTI1B. Interacts with VAMP8 (By similarity). Interacts with HECTD3 (By similarity).

neXtProt entry for STX8 Gene

Post-translational modifications for STX8 Gene

Other Protein References for STX8 Gene

No data available for DME Specific Peptides for STX8 Gene

Domains & Families for STX8 Gene

Gene Families for STX8 Gene

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

Protein Domains for STX8 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for STX8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UNK0

UniProtKB/Swiss-Prot:

STX8_HUMAN :
  • Belongs to the syntaxin family.
Family:
  • Belongs to the syntaxin family.
genes like me logo Genes that share domains with STX8: view

Function for STX8 Gene

Molecular function for STX8 Gene

GENATLAS Biochemistry:
syntaxin 8,forming a synaptic core complex with synaptosome associated proteins,binding to N-type Ca2+ channels,involved in the intracellular membrane transport and exocytosis,soluble N ethylmaleimide-sensitive factor-attachment protein receptor,SNARE protein
UniProtKB/Swiss-Prot Function:
Vesicle trafficking protein that functions in the early secretory pathway, possibly by mediating retrograde transport from cis-Golgi membranes to the ER.

Phenotypes From GWAS Catalog for STX8 Gene

Gene Ontology (GO) - Molecular Function for STX8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005484 SNAP receptor activity IBA --
GO:0005515 protein binding IPI 16189514
GO:0019869 chloride channel inhibitor activity IDA 18570918
GO:0019905 syntaxin binding IPI 10564279
GO:0031625 ubiquitin protein ligase binding IEA --
genes like me logo Genes that share ontologies with STX8: view
genes like me logo Genes that share phenotypes with STX8: view

Animal Models for STX8 Gene

MGI Knock Outs for STX8:
  • Stx8 tm2a(EUCOMM)Wtsi

Animal Model Products

CRISPR Products

miRNA for STX8 Gene

miRTarBase miRNAs that target STX8

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for STX8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for STX8 Gene

Localization for STX8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STX8 Gene

Membrane; Single-pass type IV membrane protein. Note=Preferentially associated with the early endosome. To a lesser extent, also present in late endosome, the plasma membrane and coated pits (By similarity). {ECO:0000250}.

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 STX8 gene
Compartment Confidence
plasma membrane 5
cytosol 5
golgi apparatus 5
endosome 5
endoplasmic reticulum 4
lysosome 3
cytoskeleton 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (1)
  • Cytosol (1)
  • Golgi apparatus (1)
  • Nuclear bodies (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for STX8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IEA --
GO:0005768 endosome IDA 10564279
GO:0005769 early endosome IDA 10564279
GO:0005770 late endosome IDA 10564279
GO:0005783 endoplasmic reticulum TAS 9852078
genes like me logo Genes that share ontologies with STX8: view

Pathways & Interactions for STX8 Gene

genes like me logo Genes that share pathways with STX8: view

Gene Ontology (GO) - Biological Process for STX8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 10198254
GO:0006886 intracellular protein transport IBA --
GO:0006906 vesicle fusion IBA,IEA --
GO:0008333 endosome to lysosome transport IEA --
GO:0016192 vesicle-mediated transport IEA --
genes like me logo Genes that share ontologies with STX8: view

No data available for SIGNOR curated interactions for STX8 Gene

Drugs & Compounds for STX8 Gene

(3) Additional Compounds for STX8 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with STX8: view

Transcripts for STX8 Gene

Unigene Clusters for STX8 Gene

Syntaxin 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for STX8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for STX8 Gene

No ASD Table

Relevant External Links for STX8 Gene

GeneLoc Exon Structure for
STX8
ECgene alternative splicing isoforms for
STX8

Expression for STX8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for STX8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for STX8 Gene

This gene is overexpressed in Liver (19.5), Peripheral blood mononuclear cells (17.3), and Pancreas (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for STX8 Gene



Protein tissue co-expression partners for STX8 Gene

NURSA nuclear receptor signaling pathways regulating expression of STX8 Gene:

STX8

SOURCE GeneReport for Unigene cluster for STX8 Gene:

Hs.431109

mRNA Expression by UniProt/SwissProt for STX8 Gene:

Q9UNK0-STX8_HUMAN
Tissue specificity: Highly expressed in heart. Also found in brain, kidney, liver, lung, placenta, skeletal muscle, spleen and pancreas.

Evidence on tissue expression from TISSUES for STX8 Gene

  • Lung(4.3)
  • Pancreas(4.3)
  • Nervous system(2.6)
  • Muscle(2.5)
  • Heart(2.4)
  • Skin(2.3)
  • Blood(2)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with STX8: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for STX8 Gene

Orthologs for STX8 Gene

This gene was present in the common ancestor of animals.

Orthologs for STX8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia STX8 33 34
  • 99.86 (n)
cow
(Bos Taurus)
Mammalia STX8 33 34
  • 92.2 (n)
mouse
(Mus musculus)
Mammalia Stx8 33 16 34
  • 88.84 (n)
rat
(Rattus norvegicus)
Mammalia Stx8 33
  • 88.56 (n)
dog
(Canis familiaris)
Mammalia STX8 33 34
  • 87.46 (n)
oppossum
(Monodelphis domestica)
Mammalia STX8 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia STX8 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves STX8 33 34
  • 70.5 (n)
lizard
(Anolis carolinensis)
Reptilia STX8 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stx8 33
  • 65.96 (n)
Str.2166 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.17307 33
zebrafish
(Danio rerio)
Actinopterygii stx8 33 34
  • 62.54 (n)
zgc64079 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006100 33
  • 43.27 (n)
fruit fly
(Drosophila melanogaster)
Insecta Syx8 33 34
  • 39.71 (n)
Species where no ortholog for STX8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for STX8 Gene

ENSEMBL:
Gene Tree for STX8 (if available)
TreeFam:
Gene Tree for STX8 (if available)

Paralogs for STX8 Gene

Pseudogenes.org Pseudogenes for STX8 Gene

genes like me logo Genes that share paralogs with STX8: view

No data available for Paralogs for STX8 Gene

Variants for STX8 Gene

Sequence variations from dbSNP and Humsavar for STX8 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs193920742 Uncertain significance 9,505,052(-) GCAGC(A/C)GAAAA nc-transcript-variant, reference, missense
rs1000000024 -- 9,264,852(+) CTCAC(A/G)CCTGT intron-variant
rs1000003369 -- 9,385,261(+) ACACA(A/G)TTCTG intron-variant
rs1000013017 -- 9,399,100(+) ACATA(C/T)GGACA intron-variant
rs1000014621 -- 9,551,749(+) AAAGC(A/T)GAACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for STX8 Gene

Variant ID Type Subtype PubMed ID
dgv175n21 CNV loss 19592680
esv2533392 CNV insertion 19546169
esv2661151 CNV deletion 23128226
esv2661306 CNV deletion 23128226
esv2663291 CNV deletion 23128226
esv2715631 CNV deletion 23290073
esv2715632 CNV deletion 23290073
esv27693 CNV loss 19812545
esv29207 CNV gain 19812545
esv29975 CNV loss 17803354
esv33701 CNV loss 17666407
esv3385077 CNV insertion 20981092
esv3432025 CNV insertion 20981092
esv3639896 CNV loss 21293372
esv3639897 CNV loss 21293372
esv3639898 CNV loss 21293372
esv3639899 CNV loss 21293372
esv3639900 CNV loss 21293372
esv3639901 CNV loss 21293372
esv3639902 CNV loss 21293372
esv3639903 CNV loss 21293372
esv3639904 CNV loss 21293372
esv3639905 CNV loss 21293372
esv3639906 CNV loss 21293372
esv3639908 CNV loss 21293372
esv3639909 CNV gain 21293372
esv3639910 CNV loss 21293372
esv3639911 CNV loss 21293372
esv3639912 CNV loss 21293372
esv3639915 CNV loss 21293372
esv3639916 CNV loss 21293372
esv3639917 CNV gain 21293372
esv3639918 CNV loss 21293372
nsv1064011 CNV gain 25217958
nsv1070388 CNV deletion 25765185
nsv111672 CNV deletion 16902084
nsv1142212 CNV tandem duplication 24896259
nsv153 CNV insertion 15895083
nsv1972 CNV insertion 18451855
nsv1973 CNV insertion 18451855
nsv1974 CNV insertion 18451855
nsv436063 CNV insertion 17901297
nsv473779 CNV novel sequence insertion 20440878
nsv509652 CNV insertion 20534489
nsv519249 CNV loss 19592680
nsv521947 CNV gain 19592680
nsv524312 CNV loss 19592680
nsv528692 CNV gain 19592680
nsv528816 CNV loss 19592680
nsv574341 CNV gain 21841781
nsv7289 OTHER inversion 18451855
nsv833356 CNV gain 17160897
nsv833357 CNV loss 17160897

Variation tolerance for STX8 Gene

Residual Variation Intolerance Score: 77.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.22; 40.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for STX8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
STX8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STX8 Gene

Disorders for STX8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for STX8 Gene - From: GeneCards

Disorder Aliases PubMed IDs
neuronal ceroid lipofuscinosis
  • neuronal ceroid-lipofuscinoses
- elite association - COSMIC cancer census association via MalaCards
Search STX8 in MalaCards View complete list of genes associated with diseases

Relevant External Links for STX8

Genetic Association Database (GAD)
STX8
Human Genome Epidemiology (HuGE) Navigator
STX8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
STX8
genes like me logo Genes that share disorders with STX8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for STX8 Gene

Publications for STX8 Gene

  1. Molecular cloning, expression analysis, and chromosomal localization of human syntaxin 8 (STX8). (PMID: 10198254) Thoreau V … Chomel JC (Biochemical and biophysical research communications 1999) 2 3 4 22 60
  2. Three novel proteins of the syntaxin/SNAP-25 family. (PMID: 9852078) Steegmaier M … Scheller RH (The Journal of biological chemistry 1998) 2 3 4 60
  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 45 60
  4. Molecular reclassification of Crohn's disease by cluster analysis of genetic variants. (PMID: 20886065) Cleynen I … Vermeire S (PloS one 2010) 3 45 60
  5. Genetic risk profiling and prediction of disease course in Crohn's disease patients. (PMID: 19422935) Henckaerts L … Vermeire S (Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2009) 3 45 60

Products for STX8 Gene

Sources for STX8 Gene

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