Aliases for STXBP4 Gene

Aliases for STXBP4 Gene

  • Syntaxin Binding Protein 4 2 3 5
  • Synip 2 3 4
  • Syntaxin-Binding Protein 4 3 4
  • STX4-Interacting Protein 3 4
  • Syntaxin 4 Interacting Protein 3
  • Syntaxin 4-Interacting Protein 4
  • MGC50337 2
  • STXBP4 5

External Ids for STXBP4 Gene

Previous GeneCards Identifiers for STXBP4 Gene

  • GC00U906275
  • GC17P053405
  • GC17P053520
  • GC17P050401
  • GC17P053046
  • GC17P048405

Summaries for STXBP4 Gene

GeneCards Summary for STXBP4 Gene

STXBP4 (Syntaxin Binding Protein 4) is a Protein Coding gene. Among its related pathways are Glucose / Energy Metabolism and Insulin-mediated glucose transport. Gene Ontology (GO) annotations related to this gene include calcium ion binding and syntaxin binding. An important paralog of this gene is MPDZ.

UniProtKB/Swiss-Prot Summary for STXBP4 Gene

  • Plays a role in the translocation of transport vesicles from the cytoplasm to the plasma membrane. Inhibits the translocation of SLC2A4 from intracellular vesicles to the plasma membrane by STX4A binding and preventing the interaction between STX4A and VAMP2. Stimulation with insulin disrupts the interaction with STX4A, leading to increased levels of SLC2A4 at the plasma membrane. May also play a role in the regulation of insulin release by pancreatic beta cells after stimulation by glucose (By similarity).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for STXBP4 Gene

Genomics for STXBP4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for STXBP4 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
GH17J054967 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 624.5 +0.3 261 5.6 BRCA1 ARHGAP35 SP1 HNRNPL CREB1 GATAD2A CTCF PRDM10 ZNF629 REST COX11 STXBP4 NONHSAG022253.2 HLF
GH17J054898 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 15.6 -67.4 -67399 5.2 HNRNPL CREB1 GATAD2A ZBTB33 PRDM10 REST ZNF629 TFE3 IKZF1 NFKBIZ TOM1L1 lnc-STXBP4-8 STXBP4 COX11 RF00017-2451
GH17J055407 Enhancer 1.2 Ensembl ENCODE dbSUPER 21.2 +439.5 439474 1.7 ZNF221 GATAD2A ZNF629 TFE3 SOX13 NFKBIZ RCOR2 RBFOX2 RXRB IRF2 STXBP4 MMD lnc-SMIM36-6 piR-48369-071 HLF
GH17J055432 Enhancer 1.2 ENCODE dbSUPER 13.7 +465.3 465258 3.4 HNRNPL CREB1 GATAD2A REST TFE3 SOX13 RCOR2 TARDBP ZHX2 FOXA1 STXBP4 MMD lnc-HLF-4 SMIM36
GH17J055448 Enhancer 1.4 Ensembl ENCODE dbSUPER 10.6 +484.1 484077 8.8 CEBPG GATAD2A ZNF629 REST TFE3 LEF1 IKZF1 NFKBIZ RCOR2 JUND MMD STXBP4 COX11 LOC101927367 lnc-MMD-1 lnc-HLF-4 SMIM36
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around STXBP4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for STXBP4

Top Transcription factor binding sites by QIAGEN in the STXBP4 gene promoter:
  • aMEF-2
  • ARP-1
  • CUTL1
  • FOXD1
  • Max1
  • MEF-2
  • MEF-2A
  • Oct-B1
  • oct-B2

Genomic Locations for STXBP4 Gene

Genomic Locations for STXBP4 Gene
chr17:54,968,727-55,173,632
(GRCh38/hg38)
Size:
204,906 bases
Orientation:
Plus strand
chr17:53,046,088-53,241,646
(GRCh37/hg19)
Size:
195,559 bases
Orientation:
Plus strand

Genomic View for STXBP4 Gene

Genes around STXBP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STXBP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STXBP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STXBP4 Gene

Proteins for STXBP4 Gene

  • Protein details for STXBP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZWJ1-STXB4_HUMAN
    Recommended name:
    Syntaxin-binding protein 4
    Protein Accession:
    Q6ZWJ1
    Secondary Accessions:
    • Q8IVZ5

    Protein attributes for STXBP4 Gene

    Size:
    553 amino acids
    Molecular mass:
    61662 Da
    Quaternary structure:
    • Interacts with STX4A.

    Three dimensional structures from OCA and Proteopedia for STXBP4 Gene

    Alternative splice isoforms for STXBP4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STXBP4 Gene

Post-translational modifications for STXBP4 Gene

  • Phosphorylated on Ser-99 by PKB/AKT2 after insulin treatment. Phosphorylation on Ser-99 abolishes the interaction with STX4A (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for STXBP4 Gene

Domains & Families for STXBP4 Gene

Gene Families for STXBP4 Gene

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

Protein Domains for STXBP4 Gene

InterPro:
Blocks:
  • PDZ/DHR/GLGF domain
ProtoNet:

Suggested Antigen Peptide Sequences for STXBP4 Gene

GenScript: Design optimal peptide antigens:
  • STXBP4 protein (Q08AL9_HUMAN)
  • Syntaxin 4-interacting protein (STXB4_HUMAN)
genes like me logo Genes that share domains with STXBP4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for STXBP4 Gene

Function for STXBP4 Gene

Molecular function for STXBP4 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the translocation of transport vesicles from the cytoplasm to the plasma membrane. Inhibits the translocation of SLC2A4 from intracellular vesicles to the plasma membrane by STX4A binding and preventing the interaction between STX4A and VAMP2. Stimulation with insulin disrupts the interaction with STX4A, leading to increased levels of SLC2A4 at the plasma membrane. May also play a role in the regulation of insulin release by pancreatic beta cells after stimulation by glucose (By similarity).

Phenotypes From GWAS Catalog for STXBP4 Gene

Gene Ontology (GO) - Molecular Function for STXBP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19451233
GO:0019905 syntaxin binding IPI 12855681
genes like me logo Genes that share ontologies with STXBP4: view
genes like me logo Genes that share phenotypes with STXBP4: view

Animal Models for STXBP4 Gene

MGI Knock Outs for STXBP4:
  • Stxbp4 Stxbp4<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STXBP4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for STXBP4 Gene

Localization for STXBP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STXBP4 Gene

Cytoplasm.

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 STXBP4 gene
Compartment Confidence
extracellular 4
cytosol 4
nucleus 3
cytoskeleton 2
plasma membrane 1
mitochondrion 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for STXBP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0045335 phagocytic vesicle IEA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with STXBP4: view

Pathways & Interactions for STXBP4 Gene

genes like me logo Genes that share pathways with STXBP4: view

Pathways by source for STXBP4 Gene

2 BioSystems pathways for STXBP4 Gene
1 Cell Signaling Technology pathway for STXBP4 Gene

SIGNOR curated interactions for STXBP4 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for STXBP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006605 protein targeting IEA --
GO:0006974 cellular response to DNA damage stimulus IDA 19451233
GO:0008286 insulin receptor signaling pathway IEA --
GO:0010827 regulation of glucose transmembrane transport IEA --
GO:0010838 positive regulation of keratinocyte proliferation IMP 19451233
genes like me logo Genes that share ontologies with STXBP4: view

Drugs & Compounds for STXBP4 Gene

No Compound Related Data Available

Transcripts for STXBP4 Gene

mRNA/cDNA for STXBP4 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
8 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 STXBP4

Alternative Splicing Database (ASD) splice patterns (SP) for STXBP4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14
SP1: - - - -
SP2: - - - -
SP3: -
SP4:
SP5:

Relevant External Links for STXBP4 Gene

GeneLoc Exon Structure for
STXBP4

Expression for STXBP4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for STXBP4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for STXBP4 Gene

This gene is overexpressed in Liver (42.0), Kidney (11.6), and CD4 Tcells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for STXBP4 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for STXBP4

SOURCE GeneReport for Unigene cluster for STXBP4 Gene:

Hs.35199

Evidence on tissue expression from TISSUES for STXBP4 Gene

  • Eye(4.1)
genes like me logo Genes that share expression patterns with STXBP4: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for STXBP4 Gene

Orthologs for STXBP4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for STXBP4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia STXBP4 30 31
  • 99.46 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia STXBP4 30 31
  • 89.61 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia STXBP4 30 31
  • 88.59 (n)
OneToMany
-- 31
  • 77 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Stxbp4 30 17 31
  • 82.19 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Stxbp4 30
  • 78.4 (n)
Oppossum
(Monodelphis domestica)
Mammalia STXBP4 31
  • 70 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia STXBP4 31
  • 54 (a)
OneToOne
Chicken
(Gallus gallus)
Aves STXBP4 30 31
  • 67.1 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia STXBP4 31
  • 54 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia stxbp4 30
  • 63.26 (n)
Str.7468 30
Zebrafish
(Danio rerio)
Actinopterygii LOC567916 30
  • 55.26 (n)
stxbp4 31
  • 33 (a)
OneToOne
Species where no ortholog for STXBP4 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)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 Vase (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 STXBP4 Gene

ENSEMBL:
Gene Tree for STXBP4 (if available)
TreeFam:
Gene Tree for STXBP4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for STXBP4: view image

Paralogs for STXBP4 Gene

Paralogs for STXBP4 Gene

(1) SIMAP similar genes for STXBP4 Gene using alignment to 5 proteins:

  • STXB4_HUMAN
  • B5MCT9_HUMAN
  • E7EPP7_HUMAN
  • K7ESN8_HUMAN
  • Q08AL9_HUMAN
genes like me logo Genes that share paralogs with STXBP4: view

Variants for STXBP4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for STXBP4 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs1156287 - p.Gly92Arg
rs34870302 - p.Cys120Arg

Additional dbSNP identifiers (rs#s) for STXBP4 Gene

Structural Variations from Database of Genomic Variants (DGV) for STXBP4 Gene

Variant ID Type Subtype PubMed ID
dgv3266n100 CNV loss 25217958
dgv5708n54 CNV loss 21841781
esv2478056 CNV deletion 19546169
esv3582823 CNV loss 25503493
esv3640830 CNV gain 21293372
esv3640834 CNV loss 21293372
nsv1058348 CNV loss 25217958
nsv1160495 CNV duplication 26073780
nsv457853 CNV loss 19166990
nsv515749 CNV loss 19592680
nsv522299 CNV loss 19592680
nsv575661 CNV loss 21841781
nsv833489 CNV gain 17160897

Variation tolerance for STXBP4 Gene

Residual Variation Intolerance Score: 40% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.00; 49.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STXBP4 Gene

Human Gene Mutation Database (HGMD)
STXBP4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STXBP4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STXBP4 Gene

Disorders for STXBP4 Gene

Additional Disease Information for STXBP4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for STXBP4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for STXBP4 Gene

Publications for STXBP4 Gene

  1. Syntaxin 4 and Synip (syntaxin 4 interacting protein) regulate insulin secretion in the pancreatic beta HC-9 cell. (PMID: 12855681) Saito T … Mori M (The Journal of biological chemistry 2003) 2 3 23
  2. Novel breast cancer risk alleles and interaction with ionizing radiation among U.S. radiologic technologists. (PMID: 20095854) Bhatti P … Sigurdson AJ (Radiation research 2010) 3 41
  3. Identification of type 2 diabetes-associated combination of SNPs using support vector machine. (PMID: 20416077) Ban HJ … Park KJ (BMC genetics 2010) 3 41
  4. Common genetic variants associated with breast cancer and mammographic density measures that predict disease. (PMID: 20145138) Odefrey F … Australian Twins and Sisters Mammographic Density Study (Cancer research 2010) 3 41
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for STXBP4 Gene

  • Signalway Proteins for STXBP4

Sources for STXBP4 Gene