STX11 Gene (Protein Coding)

Syntaxin 11

GC06P144150
GIFtS:
42
This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic lymphohistiocytosis. [provided by RefSeq, Jul 2008] See more...

Aliases for STX11 Gene

Aliases for STX11 Gene

  • Syntaxin 11 2 3 5
  • Syntaxin-11 3 4
  • HPLH4 3
  • FHL4 3
  • HLH4 3

External Ids for STX11 Gene

Previous GeneCards Identifiers for STX11 Gene

  • GC06P144094
  • GC06P144318
  • GC06P144406
  • GC06P144452
  • GC06P144513
  • GC06P142035

Summaries for STX11 Gene

Entrez Gene Summary for STX11 Gene

  • This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic lymphohistiocytosis. [provided by RefSeq, Jul 2008]

GeneCards Summary for STX11 Gene

STX11 (Syntaxin 11) is a Protein Coding gene. Diseases associated with STX11 include Hemophagocytic Lymphohistiocytosis, Familial, 4 and Hemophagocytic Lymphohistiocytosis. Among its related pathways are Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include SNARE binding and SNAP receptor activity. An important paralog of this gene is STX19.

UniProtKB/Swiss-Prot Summary for STX11 Gene

  • SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network.

Gene Wiki entry for STX11 Gene

Additional gene information for STX11 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for STX11 Gene

Genomics for STX11 Gene

GeneHancer (GH) Regulatory Elements for STX11 Gene

Promoters and enhancers for STX11 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
GH06J144149 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 779.1 +11.8 11783 4.9 CTCF ZBTB6 POLR2A JUND MYC ETV6 RELA L3MBTL2 MAX MNT STX11 PLAGL1 LTV1 VDAC1P8 piR-61945-441
GH06J144139 Enhancer 0.5 dbSUPER 750.6 +0.5 519 2.8 CREM RUNX3 JUNB BATF FOXP1 ATF2 POLR2A STX11 ENSG00000225311 PHACTR2 piR-61945-441
GH06J144062 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 10.6 -75.8 -75784 3.1 ZBTB40 CTCF SMARCE1 POLR2A RELA L3MBTL2 MAX MNT ZNF148 NKRF PLAGL1 HYMAI SF3B5 STX11 PHACTR2 lnc-ZC2HC1B-3 ENSG00000217231
GH06J143672 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.7 -463.1 -463149 8.7 SREBF1 POLR2A NR2F1 NR2F6 ZNF217 RUNX1 HLF L3MBTL2 ZNF121 DACH1 PHACTR2 LTV1 STX11 piR-56883-171 RF00017-5824
GH06J143802 Enhancer 1.3 FANTOM5 Ensembl ENCODE 16.1 -333.8 -333750 8.2 ZBTB40 SMARCE1 RUNX1 CC2D1A L3MBTL2 DACH1 POU5F1 TEAD4 ZKSCAN8 ZNF148 ENSG00000257065 LTV1 ENSG00000270890 ADAT2 VDAC1P8 STX11 ZC2HC1B PLAGL1 PHACTR2 piR-45932-090
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around STX11 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the STX11 gene promoter:
  • AP-4
  • Bach1
  • C/EBPalpha
  • IRF-2
  • IRF-7A
  • Lhx3a
  • LHX3b
  • NF-E2
  • NF-E2 p45
  • TBP

Genomic Locations for STX11 Gene

Genomic Locations for STX11 Gene
chr6:144,140,051-144,191,939
(GRCh38/hg38)
Size:
51,889 bases
Orientation:
Plus strand
chr6:144,471,654-144,513,076
(GRCh37/hg19)
Size:
41,423 bases
Orientation:
Plus strand

Genomic View for STX11 Gene

Genes around STX11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STX11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STX11 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for STX11 Gene

Proteins for STX11 Gene

Products:

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  • Protein details for STX11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75558-STX11_HUMAN
    Recommended name:
    Syntaxin-11
    Protein Accession:
    O75558
    Secondary Accessions:
    • E1P598
    • O75378
    • O95148
    • Q5TCL6

    Protein attributes for STX11 Gene

    Size:
    287 amino acids
    Molecular mass:
    33196 Da
    Quaternary structure:
    • Interacts with the SNARE proteins SNAP-23 and VAMP.

neXtProt entry for STX11 Gene

Protein Expression for STX11 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for STX11 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for STX11 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for STX11 Gene

Domains & Families for STX11 Gene

Gene Families for STX11 Gene

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

Protein Domains for STX11 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for STX11 Gene

GenScript: Design optimal peptide antigens:
  • Syntaxin-11 (STX11_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75558

UniProtKB/Swiss-Prot:

STX11_HUMAN :
  • Belongs to the syntaxin family.
Family:
  • Belongs to the syntaxin family.
genes like me logo Genes that share domains with STX11: view

Function for STX11 Gene

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Molecular function for STX11 Gene

UniProtKB/Swiss-Prot Function:
SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network.

Phenotypes From GWAS Catalog for STX11 Gene

Gene Ontology (GO) - Molecular Function for STX11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding IBA 21873635
GO:0005484 SNAP receptor activity TAS,IBA 21873635
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with STX11: view
genes like me logo Genes that share phenotypes with STX11: view

Human Phenotype Ontology for STX11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for STX11 Gene

MGI Knock Outs for STX11:

Animal Model Products

CRISPR Products

miRNA for STX11 Gene

miRTarBase miRNAs that target STX11

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STX11

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for STX11 Gene

Localization for STX11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STX11 Gene

Membrane; Peripheral membrane protein. Golgi apparatus, trans-Golgi network 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 STX11 gene
Compartment Confidence
plasma membrane 4
golgi apparatus 3
nucleus 2
cytosol 2
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for STX11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane IBA 21873635
GO:0008021 synaptic vesicle IBA 21873635
GO:0012505 endomembrane system IBA 21873635
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with STX11: view

Pathways & Interactions for STX11 Gene

genes like me logo Genes that share pathways with STX11: view

Pathways by source for STX11 Gene

1 KEGG pathway for STX11 Gene

Gene Ontology (GO) - Biological Process for STX11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA 21873635
GO:0006887 exocytosis IBA 21873635
GO:0006906 vesicle fusion IBA 21873635
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
genes like me logo Genes that share ontologies with STX11: view

No data available for SIGNOR curated interactions for STX11 Gene

Drugs & Compounds for STX11 Gene

Products:

  1. Drug

(1) Drugs for STX11 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
emapalumab Approved, Investigational Pharma 0
genes like me logo Genes that share compounds with STX11: view

Transcripts for STX11 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for STX11 Gene

(1) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(56) Selected AceView cDNA sequences:
(1) 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 STX11

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for STX11 Gene

No ASD Table

Relevant External Links for STX11 Gene

GeneLoc Exon Structure for
STX11
ECgene alternative splicing isoforms for
STX11

Expression for STX11 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for STX11 Gene

mRNA expression in normal human tissues for STX11 Gene
mRNA expression by BioGPS for STX11 GenemRNA expression by GTEx for STX11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for STX11 Gene

This gene is overexpressed in Whole Blood (x18.7).

Protein differential expression in normal tissues from HIPED for STX11 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (38.0) and Platelet (24.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for STX11 Gene



Protein tissue co-expression partners for STX11 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of STX11 Gene:

STX11

SOURCE GeneReport for Unigene cluster for STX11 Gene:

Hs.118958

Evidence on tissue expression from TISSUES for STX11 Gene

  • Nervous system(4.2)
  • Blood(2.6)
  • Bone marrow(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for STX11 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebrospinal fluid
  • ear
  • eye
  • head
  • meninges
  • mouth
  • neck
  • skull
Thorax:
  • heart
  • lung
Abdomen:
  • biliary tract
  • duodenum
  • intestine
  • liver
  • pancreas
  • small intestine
  • spleen
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • lymph node
  • red blood cell
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with STX11: view

No data available for mRNA Expression by UniProt/SwissProt for STX11 Gene

Orthologs for STX11 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for STX11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia STX11 33 32
  • 99.77 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Stx11 32
  • 90.71 (n)
dog
(Canis familiaris)
 Mammalia STX11 33 32
  • 89.86 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia STX11 33 32
  • 87.76 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Stx11 17 33 32
  • 86.71 (n)
oppossum
(Monodelphis domestica)
 Mammalia STX11 33
  • 75 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia STX11 33
  • 72 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves STX11 33 32
  • 62.29 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia STX11 33
  • 60 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia stx11 32
  • 63.02 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.18360 32
zebrafish
(Danio rerio)
 Actinopterygii stx11a 33 32
  • 60.12 (n)
 OneToMany
stx11b.1 33
  • 42 (a)
 OneToMany
stx11b.2 33
  • 37 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta Syx4 33
  • 16 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea syx-4 33
  • 21 (a)
 ManyToMany
syx-2 33
  • 18 (a)
 ManyToMany
syx-3 33
  • 17 (a)
 ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SSO2 33
  • 19 (a)
 ManyToMany
SSO1 33
  • 19 (a)
 ManyToMany
Species where no ortholog for STX11 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)
  • 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)

Evolution for STX11 Gene

ENSEMBL:
Gene Tree for STX11 (if available)
TreeFam:
Gene Tree for STX11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for STX11: view image

Paralogs for STX11 Gene

Paralogs for STX11 Gene

(9) SIMAP similar genes for STX11 Gene using alignment to 1 proteins:

  • STX11_HUMAN
genes like me logo Genes that share paralogs with STX11: view

Variants for STX11 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for STX11 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs104893996 pathogenic, Hemophagocytic lymphohistiocytosis, familial, 4 144,187,429(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, stop_gained
rs111644678 uncertain-significance, Familial hemophagocytic lymphohistiocytosis 144,188,097(+) C/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs11356106 uncertain-significance, Familial hemophagocytic lymphohistiocytosis 144,188,726(+) TTTTTTTTTTTTTTTTTTT/TTTTTTTTT/TTTTTTTTTTTT/TTTTTTTTTTTTTTT/TTTTTTTTTTTTTTTT/TTTTTTTTTTTTTTTTT/TTTTTTTTTTTTTTTTTT/TTTTTTTTTTTTTTTTTTTT/TTTTTTTTTTTTTTTTTTTTT/TTTTTTTTTTTTTTTTTTTTTT/TTTTTTTTTTTTTTTTTTTTTTT 3_prime_UTR_variant, genic_downstream_transcript_variant
rs117017297 uncertain-significance, Familial hemophagocytic lymphohistiocytosis 144,191,090(+) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs11963744 likely-benign, Familial hemophagocytic lymphohistiocytosis 144,190,705(+) C/G/T 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for STX11 Gene

Variant ID Type Subtype PubMed ID
esv3571438 CNV loss 25503493
nsv1024333 CNV loss 25217958
nsv507367 OTHER sequence alteration 20534489
nsv830831 CNV gain 17160897

Variation tolerance for STX11 Gene

Residual Variation Intolerance Score: 57.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.54; 64.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STX11 Gene

Human Gene Mutation Database (HGMD)
STX11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STX11

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STX11 Gene

Disorders for STX11 Gene

MalaCards: The human disease database

(6) MalaCards diseases for STX11 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hemophagocytic lymphohistiocytosis, familial, 4
  • fhl4
hemophagocytic lymphohistiocytosis
  • fhl
primary hemophagocytic lymphohistiocytosis
  • genetic hemophagocytic lymphohistiocytosis
lymphatic system disease
  • adenopathy
good syndrome
  • thymoma with hypogammaglobulinemia
- elite association - COSMIC cancer census association via MalaCards
Search STX11 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

STX11_HUMAN
  • Familial hemophagocytic lymphohistiocytosis 4 (FHL4) [MIM:603552]: A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. {ECO:0000269 PubMed:15703195}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for STX11

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 STX11: view

No data available for Genatlas for STX11 Gene

Publications for STX11 Gene

  1. Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. (PMID: 15703195) zur Stadt U … Hennies HC (Human molecular genetics 2005) 3 4 23 56
  2. Syntaxin 11 is associated with SNAP-23 on late endosomes and the trans-Golgi network. (PMID: 10036234) Valdez AC … Roche PA (Journal of cell science 1999) 3 4 23 56
  3. Seven novel mammalian SNARE proteins localize to distinct membrane compartments. (PMID: 9553086) Advani RJ … Scheller RH (The Journal of biological chemistry 1998) 2 3 4 56
  4. Syntaxin 11: a member of the syntaxin family without a carboxyl terminal transmembrane domain. (PMID: 9571206) Tang BL … Hong W (Biochemical and biophysical research communications 1998) 3 4 23 56
  5. 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 43 56

ExternalLinks

View latest publications for STX11 gene in Mastermind

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