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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
  • Tomosyn-2 3 4
  • LLGL4 3 4
  • Syntaxin Binding Protein 5-Like 2
  • Syntaxin-Binding Protein 5-Like 3
  • Tomosyn-Like 3
  • KIAA1006 4

External Ids for STXBP5L Gene

Previous GeneCards Identifiers for STXBP5L Gene

  • GC03P121948
  • GC03P122104
  • GC03P120626
  • GC03P118001

Summaries for STXBP5L Gene

Entrez Gene Summary for STXBP5L Gene

  • The protein encoded by this gene is similar to syntaxin-binding protein 5 and contains ten N-terminal WD40 repeats, four variable region WD40 repeats, and a C-terminal R-SNARE domain. Studies of the orthologous proteins in mouse and rat have shown that the encoded protein may inhibit exocytosis in neurosecretory cells, and may negatively regulate the secretion of insulin. A missense variant in this gene is likely the cause of an infantile-onset neurodegenerative disorder diagnosed in two siblings of consanguineous parents. [provided by RefSeq, Jan 2017]

GeneCards Summary for STXBP5L Gene

STXBP5L (Syntaxin Binding Protein 5 Like) is a Protein Coding gene. Diseases associated with STXBP5L include Retinitis Pigmentosa 24. GO annotations related to this gene include syntaxin binding. An important paralog of this gene is STXBP5.

UniProtKB/Swiss-Prot for STXBP5L Gene

  • May play a role in vesicle trafficking and exocytosis.

Additional gene information for STXBP5L Gene

No data available for CIViC 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 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
GH03H121544 1 ENCODE 8.6 +637.8 637802 2 FOXA2 ARID4B SIN3A FEZF1 DMAP1 YY1 ETS1 ELK1 ZNF143 ATF7 IQCB1 GOLGB1 LOC102723582 GTF2E1 STXBP5L POLQ RPL7AP11
GH03H121548 0.9 Ensembl ENCODE 8.2 +640.9 640876 1 HDGF ZNF687 JUNB ELF1 BATF ZNF217 IKZF1 NBN MLLT1 ATF7 STXBP5L POLQ ARGFX
GH03H121339 0.3 FANTOM5 22.1 +431.8 431762 0 STXBP5L LOC100422044 GC03P121282
GH03H121244 0.3 FANTOM5 20.6 +336.7 336650 0 STXBP5L GC03P121282 LOC100419755
GH03H121476 0.7 Ensembl ENCODE 8.7 +569.6 569615 1 CEBPB CEBPG STXBP5L RPL7AP11 LOC100422044
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around STXBP5L on UCSC Golden Path with GeneCards custom track

Promoters for STXBP5L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000157244 428 1000 HDGF PKNOX1 ARID4B SIN3A ZNF2 ZBTB7B GLIS2 SP3 SP5 MIER2

Genomic Location for STXBP5L Gene

Chromosome:
3
Start:
120,908,072 bp from pter
End:
121,424,761 bp from pter
Size:
516,690 bases
Orientation:
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:
    Q9Y2K9-STB5L_HUMAN
    Recommended name:
    Syntaxin-binding protein 5-like
    Protein Accession:
    Q9Y2K9
    Secondary Accessions:
    • Q4G1B4
    • Q6PIC3

    Protein attributes for STXBP5L Gene

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

    Alternative splice isoforms for STXBP5L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STXBP5L Gene

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

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

Suggested Antigen Peptide Sequences for STXBP5L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y2K9

UniProtKB/Swiss-Prot:

STB5L_HUMAN :
  • Belongs to the WD repeat L(2)GL family.
Family:
  • Belongs to the WD repeat L(2)GL family.
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.

Phenotypes From GWAS Catalog for STXBP5L Gene

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 --
GO:0019905 syntaxin 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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for STXBP5L
  • 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 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

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 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:0005737 cytoplasm IBA --
GO:0005886 plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with STXBP5L: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for STXBP5L Gene

Pathways & Interactions for STXBP5L Gene

SuperPathways for STXBP5L Gene

No Data Available

Gene Ontology (GO) - Biological Process for STXBP5L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006887 exocytosis IEA --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
GO:0017157 regulation of exocytosis IBA --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for STXBP5L
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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: -
SP2:

ExUns: 25 ^ 26 ^ 27 ^ 28
SP1:
SP2:

Relevant External Links for STXBP5L Gene

GeneLoc Exon Structure for
STXBP5L
ECgene alternative splicing isoforms for
STXBP5L

Expression for STXBP5L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for STXBP5L Gene



NURSA nuclear receptor signaling pathways regulating expression of STXBP5L Gene:

STXBP5L

SOURCE GeneReport for Unigene cluster for STXBP5L Gene:

Hs.477315

mRNA Expression by UniProt/SwissProt for STXBP5L Gene:

Q9Y2K9-STB5L_HUMAN
Tissue specificity: Detected in kidney, hippocampus and lung carcinoma.

Evidence on tissue expression from TISSUES for STXBP5L Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with STXBP5L: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia STXBP5L 33 34
  • 99.92 (n)
dog
(Canis familiaris)
Mammalia STXBP5L 33 34
  • 94.97 (n)
cow
(Bos Taurus)
Mammalia STXBP5L 33 34
  • 94.12 (n)
oppossum
(Monodelphis domestica)
Mammalia STXBP5L 34
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia STXBP5L 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Stxbp5l 33 16 34
  • 90.97 (n)
rat
(Rattus norvegicus)
Mammalia Stxbp5l 33
  • 90.52 (n)
chicken
(Gallus gallus)
Aves STXBP5L 33 34
  • 81.32 (n)
lizard
(Anolis carolinensis)
Reptilia STXBP5L 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stxbp5l 33
  • 73.66 (n)
zebrafish
(Danio rerio)
Actinopterygii stxbp5l 33 34
  • 68.14 (n)
fruit fly
(Drosophila melanogaster)
Insecta tomosyn 34
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tom-1 33 34
  • 49.2 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SRO7 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
OneToMany
Species where no ortholog for STXBP5L was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for STXBP5L (if available)
TreeFam:
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
rs767675000 Uncertain significance 121,413,264(+) ACCTC(A/G)TCTCT reference, missense
rs886043171 Uncertain significance 121,152,492(+) GTTAT(G/T)AAAAT nc-transcript-variant, reference, stop-gained, utr-variant-5-prime
rs1000000198 -- 121,311,494(+) GAATT(A/G)TTTAT intron-variant
rs1000000604 -- 121,083,246(+) TATTC(A/C)TCAGG intron-variant
rs1000003965 -- 121,224,972(+) AATTT(C/T)TAATA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv296n21 CNV loss 19592680
dgv8524n54 CNV gain 21841781
dgv8525n54 CNV gain 21841781
dgv929e214 CNV loss 21293372
esv2557637 CNV deletion 19546169
esv2669340 CNV deletion 23128226
esv2675253 CNV deletion 23128226
esv2725831 CNV deletion 23290073
esv3451038 OTHER inversion 20981092
esv3562459 CNV deletion 23714750
esv3568983 CNV loss 25503493
esv3568984 CNV loss 25503493
esv3575597 CNV gain 25503493
esv3575598 CNV gain 25503493
esv3597584 CNV gain 21293372
esv3597585 CNV loss 21293372
esv3597586 CNV gain 21293372
esv3597587 CNV gain 21293372
esv3597589 CNV loss 21293372
esv3597590 CNV loss 21293372
esv3597591 CNV loss 21293372
esv3597592 CNV loss 21293372
nsv1005525 CNV loss 25217958
nsv1005551 CNV gain 25217958
nsv1012777 CNV gain 25217958
nsv1114419 CNV deletion 24896259
nsv1136768 CNV deletion 24896259
nsv1141890 OTHER inversion 24896259
nsv521397 CNV gain 19592680
nsv591400 CNV gain 21841781
nsv591401 CNV gain 21841781
nsv829700 CNV gain+loss 17160897
nsv829701 CNV gain 17160897
nsv829702 CNV gain 17160897
nsv999335 CNV gain 25217958

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)
STXBP5L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STXBP5L

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

Disorders for STXBP5L Gene

MalaCards: The human disease database

(1) MalaCards diseases for STXBP5L Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 24
  • rp24
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for STXBP5L

Genetic Association Database (GAD)
STXBP5L
Human Genome Epidemiology (HuGE) Navigator
STXBP5L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
STXBP5L
genes like me logo Genes that share disorders with STXBP5L: view

No data available for 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 (International journal of oncology 2004) 2 3 4 22 60
  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 (Journal of hepatology 2009) 3 22 45 60
  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 research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 60
  4. 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
  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 60

Products for STXBP5L Gene

Sources for STXBP5L Gene

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