Atlas of Genetics and Cytogenetics in Oncology and Haematology


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STXBP5L (syntaxin binding protein 5L)

Identity

Alias (NCBI)LLGL4
HGNC (Hugo) STXBP5L
HGNC Alias symbKIAA1006
LLGL4
tomosyn-2
HGNC Previous namesyntaxin binding protein 5-like
 syntaxin binding protein 5 like
LocusID (NCBI) 9515
Atlas_Id 54675
Location 3q13.33  [Link to chromosome band 3q13]
Location_base_pair Starts at 120908205 and ends at 121424761 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DCBLD2 (3q12.1)::STXBP5L (3q13.33)GANAB (11q12.3)::STXBP5L (3q13.33)GRM4 (6p21.31)::STXBP5L (3q13.33)
PAX9 (14q13.3)::STXBP5L (3q13.33)STAG1 (3q22.3)::STXBP5L (3q13.33)STXBP5L (3q13.33)::STAG1 (3q22.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)STXBP5L   30757
Cards
Entrez_Gene (NCBI)STXBP5L    syntaxin binding protein 5L
AliasesLLGL4
GeneCards (Weizmann)STXBP5L
Ensembl hg19 (Hinxton)ENSG00000145087 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000145087 [Gene_View]  ENSG00000145087 [Sequence]  chr3:120908205-121424761 [Contig_View]  STXBP5L [Vega]
ICGC DataPortalENSG00000145087
TCGA cBioPortalSTXBP5L
AceView (NCBI)STXBP5L
Genatlas (Paris)STXBP5L
SOURCE (Princeton)STXBP5L
Genetics Home Reference (NIH)STXBP5L
Genomic and cartography
GoldenPath hg38 (UCSC)STXBP5L  -     chr3:120908205-121424761 +  3q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)STXBP5L  -     3q13.33   [Description]    (hg19-Feb_2009)
GoldenPathSTXBP5L - 3q13.33 [CytoView hg19]  STXBP5L - 3q13.33 [CytoView hg38]
ImmunoBaseENSG00000145087
Genome Data Viewer NCBISTXBP5L [Mapview hg19]  
OMIM609381   
Gene and transcription
Genbank (Entrez)AB023223 AI279148 AK296544 BC022029 BC037531
RefSeq transcript (Entrez)NM_001308330 NM_001348343 NM_001348344 NM_001348345 NM_014980
Consensus coding sequences : CCDS (NCBI)STXBP5L
Gene ExpressionSTXBP5L [ NCBI-GEO ]   STXBP5L [ EBI - ARRAY_EXPRESS ]   STXBP5L [ SEEK ]   STXBP5L [ MEM ]
Gene Expression Viewer (FireBrowse)STXBP5L [ Firebrowse - Broad ]
GenevisibleExpression of STXBP5L in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9515
GTEX Portal (Tissue expression)STXBP5L
Human Protein AtlasENSG00000145087-STXBP5L [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y2K9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y2K9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y2K9
PhosPhoSitePlusQ9Y2K9
Domaine pattern : Prosite (Expaxy)V_SNARE (PS50892)    WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)Lethal2_giant    Lgl_C_dom    LLGL2    V_SNARE_CC    WD40/YVTN_repeat-like_dom_sf    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom    WD40_repeat_dom_sf   
Domain families : Pfam (Sanger)Lgl_C (PF08596)    LLGL (PF08366)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam08596    pfam08366    pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)STXBP5L
SuperfamilyQ9Y2K9
AlphaFold pdb e-kbQ9Y2K9   
Human Protein Atlas [tissue]ENSG00000145087-STXBP5L [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q9Y2K9
IntAct (EBI)Q9Y2K9
BioGRIDSTXBP5L
STRING (EMBL)STXBP5L
ZODIACSTXBP5L
Ontologies - Pathways
QuickGOQ9Y2K9
Ontology : AmiGOGTPase activator activity  protein binding  cytoplasm  plasma membrane  exocytosis  protein transport  regulation of exocytosis  syntaxin binding  SNARE complex  myosin II binding  regulation of protein secretion  regulation of catalytic activity  
Ontology : EGO-EBIGTPase activator activity  protein binding  cytoplasm  plasma membrane  exocytosis  protein transport  regulation of exocytosis  syntaxin binding  SNARE complex  myosin II binding  regulation of protein secretion  regulation of catalytic activity  
NDEx NetworkSTXBP5L
Atlas of Cancer Signalling NetworkSTXBP5L
Wikipedia pathwaysSTXBP5L
Orthology - Evolution
OrthoDB9515
GeneTree (enSembl)ENSG00000145087
Phylogenetic Trees/Animal Genes : TreeFamSTXBP5L
Homologs : HomoloGeneSTXBP5L
Homology/Alignments : Family Browser (UCSC)STXBP5L
Gene fusions - Rearrangements
Fusion : MitelmanSTAG1::STXBP5L [3q22.3/3q13.33]  
Fusion : QuiverSTXBP5L
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSTXBP5L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)STXBP5L
dbVarSTXBP5L
ClinVarSTXBP5L
MonarchSTXBP5L
1000_GenomesSTXBP5L 
Exome Variant ServerSTXBP5L
GNOMAD BrowserENSG00000145087
Varsome BrowserSTXBP5L
ACMGSTXBP5L variants
VarityQ9Y2K9
Genomic Variants (DGV)STXBP5L [DGVbeta]
DECIPHERSTXBP5L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSTXBP5L 
Mutations
ICGC Data PortalSTXBP5L 
TCGA Data PortalSTXBP5L 
Broad Tumor PortalSTXBP5L
OASIS PortalSTXBP5L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSTXBP5L  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSTXBP5L
Mutations and Diseases : HGMDSTXBP5L
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSTXBP5L
DgiDB (Drug Gene Interaction Database)STXBP5L
DoCM (Curated mutations)STXBP5L
CIViC (Clinical Interpretations of Variants in Cancer)STXBP5L
Cancer3DSTXBP5L
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609381   
Orphanet
DisGeNETSTXBP5L
MedgenSTXBP5L
Genetic Testing Registry STXBP5L
NextProtQ9Y2K9 [Medical]
GENETestsSTXBP5L
Target ValidationSTXBP5L
Huge Navigator STXBP5L [HugePedia]
ClinGenSTXBP5L
Clinical trials, drugs, therapy
MyCancerGenomeSTXBP5L
Protein Interactions : CTDSTXBP5L
Pharm GKB GenePA134976391
PharosQ9Y2K9
Clinical trialSTXBP5L
Miscellaneous
canSAR (ICR)STXBP5L
HarmonizomeSTXBP5L
ARCHS4STXBP5L
DataMed IndexSTXBP5L
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSTXBP5L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun Jan 16 18:36:08 CET 2022

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