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Aliases for STXBP5L Gene

Aliases for STXBP5L Gene

  • Syntaxin Binding Protein 5 Like 2 3 5
  • Lethal(2) Giant Larvae Protein Homolog 4 3 4
  • Syntaxin Binding Protein 5-Like 2 3
  • Tomosyn-2 3 4
  • LLGL4 3 4
  • Tomosyn-Like 3
  • KIAA1006 4

External Ids for STXBP5L Gene

Previous GeneCards Identifiers for STXBP5L Gene

  • GC03P121948
  • GC03P122104
  • GC03P120626
  • GC03P118001

Summaries for STXBP5L Gene

GeneCards Summary for STXBP5L Gene

STXBP5L (Syntaxin Binding Protein 5 Like) is a Protein Coding gene. GO annotations related to this gene include syntaxin binding. An important paralog of this gene is LLGL2.

UniProtKB/Swiss-Prot for STXBP5L Gene

  • May play a role in vesicle trafficking and exocytosis.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STXBP5L Gene

Genomics for STXBP5L Gene

Regulatory Elements for STXBP5L Gene

Enhancers for STXBP5L Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around STXBP5L on UCSC Golden Path with GeneCards custom track

Genomic Location for STXBP5L Gene

120,908,072 bp from pter
121,424,761 bp from pter
516,690 bases
Plus strand

Genomic View for STXBP5L Gene

Genes around STXBP5L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STXBP5L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STXBP5L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STXBP5L Gene

Proteins for STXBP5L Gene

  • Protein details for STXBP5L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Syntaxin-binding protein 5-like
    Protein Accession:
    Secondary Accessions:
    • Q4G1B4
    • Q6PIC3

    Protein attributes for STXBP5L Gene

    1186 amino acids
    Molecular mass:
    131887 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA76850.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for STXBP5L Gene


neXtProt entry for STXBP5L Gene

Proteomics data for STXBP5L Gene at MOPED

Post-translational modifications for STXBP5L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for STXBP5L Gene

Domains & Families for STXBP5L Gene

Gene Families for STXBP5L Gene

Suggested Antigen Peptide Sequences for STXBP5L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 v-SNARE coiled-coil homology domain.
  • Belongs to the WD repeat L(2)GL family.
  • Contains 14 WD repeats.
  • Contains 1 v-SNARE coiled-coil homology domain.
  • Belongs to the WD repeat L(2)GL family.
  • Contains 14 WD repeats.
genes like me logo Genes that share domains with STXBP5L: view

Function for STXBP5L Gene

Molecular function for STXBP5L Gene

UniProtKB/Swiss-Prot Function:
May play a role in vesicle trafficking and exocytosis.

Gene Ontology (GO) - Molecular Function for STXBP5L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA --
GO:0017137 Rab GTPase binding IBA --
genes like me logo Genes that share ontologies with STXBP5L: view

Phenotypes for STXBP5L Gene

genes like me logo Genes that share phenotypes with STXBP5L: view

Animal Models for STXBP5L Gene

MGI Knock Outs for STXBP5L:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for STXBP5L Gene

Localization for STXBP5L Gene

Subcellular locations from UniProtKB/Swiss-Prot for STXBP5L Gene

Cytoplasm. Cell membrane; Peripheral membrane protein. Membrane; Peripheral membrane protein. Note=Cytoplasmic, and associated with vesicular membranes and the plasma membrane. {ECO:0000305}.

Subcellular locations from

Jensen Localization Image for STXBP5L Gene COMPARTMENTS Subcellular localization image for STXBP5L gene
Compartment Confidence
plasma membrane 5
cytosol 2

Gene Ontology (GO) - Cellular Components for STXBP5L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031201 SNARE complex IBA --
genes like me logo Genes that share ontologies with STXBP5L: view

Pathways & Interactions for STXBP5L Gene

SuperPathways for STXBP5L Gene

No Data Available

Interacting Proteins for STXBP5L Gene

Gene Ontology (GO) - Biological Process for STXBP5L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017157 regulation of exocytosis IBA --
GO:0042593 glucose homeostasis IEA --
GO:0043547 positive regulation of GTPase activity IBA --
GO:0050708 regulation of protein secretion IBA --
GO:0050714 positive regulation of protein secretion IEA --
genes like me logo Genes that share ontologies with STXBP5L: view

No data available for Pathways by source and SIGNOR curated interactions for STXBP5L Gene

Drugs & Compounds for STXBP5L Gene

No Compound Related Data Available

Transcripts for STXBP5L Gene

mRNA/cDNA for STXBP5L Gene

Unigene Clusters for STXBP5L Gene

Syntaxin binding protein 5-like:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for STXBP5L Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1: -

ExUns: 25 ^ 26 ^ 27 ^ 28

Relevant External Links for STXBP5L Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for STXBP5L Gene

mRNA expression in normal human tissues for STXBP5L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for STXBP5L Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x11.2), Brain - Cerebellum (x10.5), Brain - Frontal Cortex (BA9) (x5.0), and Brain - Cortex (x4.9).

Protein differential expression in normal tissues from HIPED for STXBP5L Gene

This gene is overexpressed in Frontal cortex (47.5) and Pancreatic juice (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for STXBP5L Gene

SOURCE GeneReport for Unigene cluster for STXBP5L Gene Hs.477315

mRNA Expression by UniProt/SwissProt for STXBP5L Gene

Tissue specificity: Detected in kidney, hippocampus and lung carcinoma.
genes like me logo Genes that share expression patterns with STXBP5L: view

Primer Products

No data available for Protein tissue co-expression partners for STXBP5L Gene

Orthologs for STXBP5L Gene

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

Orthologs for STXBP5L Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia STXBP5L 35
  • 94.12 (n)
  • 97.55 (a)
  • 98 (a)
(Canis familiaris)
Mammalia STXBP5L 35
  • 94.97 (n)
  • 97.13 (a)
  • 97 (a)
(Mus musculus)
Mammalia Stxbp5l 35
  • 90.97 (n)
  • 95.53 (a)
Stxbp5l 16
Stxbp5l 36
  • 96 (a)
(Pan troglodytes)
Mammalia STXBP5L 35
  • 99.92 (n)
  • 100 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Stxbp5l 35
  • 90.52 (n)
  • 95.86 (a)
(Monodelphis domestica)
Mammalia STXBP5L 36
  • 93 (a)
(Ornithorhynchus anatinus)
Mammalia STXBP5L 36
  • 91 (a)
(Gallus gallus)
Aves STXBP5L 35
  • 81.32 (n)
  • 87.79 (a)
  • 85 (a)
(Anolis carolinensis)
Reptilia STXBP5L 36
  • 79 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia stxbp5l 35
  • 73.66 (n)
  • 81.75 (a)
(Danio rerio)
Actinopterygii stxbp5l 35
  • 68.14 (n)
  • 74.4 (a)
stxbp5l 36
  • 73 (a)
fruit fly
(Drosophila melanogaster)
Insecta tomosyn 36
  • 36 (a)
(Caenorhabditis elegans)
Secernentea tom-1 35
  • 49.2 (n)
  • 38.03 (a)
tom-1 36
  • 33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SRO7 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
Species with no ortholog for STXBP5L:
  • A. gosspyii yeast (Ashbya 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)
  • 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 STXBP5L Gene

Gene Tree for STXBP5L (if available)
Gene Tree for STXBP5L (if available)

Paralogs for STXBP5L Gene

Paralogs for STXBP5L Gene

(4) SIMAP similar genes for STXBP5L Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with STXBP5L: view

Variants for STXBP5L Gene

Sequence variations from dbSNP and Humsavar for STXBP5L Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs17249244 - 121,257,204(+) TATTA(C/G)CCCTG nc-transcript-variant, reference, missense
rs17740066 - 121,381,436(+) TGTTC(A/G)TTGGA reference, missense
rs338957 -- 121,243,505(+) aagca(C/T)acaaa intron-variant
rs338958 -- 121,244,655(+) tcaaa(A/G)acaaa intron-variant
rs338959 -- 121,246,093(+) ggaac(C/T)aggcc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for STXBP5L Gene

Variant ID Type Subtype PubMed ID
nsv829700 CNV Gain+Loss 17160897
esv2557637 CNV Deletion 19546169
esv2725831 CNV Deletion 23290073
esv2675253 CNV Deletion 23128226
nsv829701 CNV Gain 17160897
dgv296n21 CNV Loss 19592680
nsv521397 CNV Gain 19592680
nsv829702 CNV Gain 17160897
esv2669340 CNV Deletion 23128226

Variation tolerance for STXBP5L Gene

Residual Variation Intolerance Score: 3.35% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.09; 80.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for STXBP5L Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STXBP5L Gene

Disorders for STXBP5L Gene

Relevant External Links for STXBP5L

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for STXBP5L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for STXBP5L Gene

Publications for STXBP5L Gene

  1. Identification and characterization of human LLGL4 gene and mouse Llgl4 gene in silico. (PMID: 14767561) Katoh M. … Katoh M. (Int. J. Oncol. 2004) 2 3 4 23 67
  2. Multiple variants in toll-like receptor 4 gene modulate risk of liver fibrosis in Caucasians with chronic hepatitis C infection. (PMID: 19586676) Li Y. … Sninsky J. (J. Hepatol. 2009) 3 23
  3. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T. … Ohara O. (DNA Res. 1999) 2 3
  4. Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder. (PMID: 25504045) Kumar R. … Gecz J. (Hum. Mol. Genet. 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for STXBP5L Gene

Sources for STXBP5L Gene