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SCFD2 (sec1 family domain containing 2)

Identity

Alias_symbol (synonym)STXBP1L1
FLJ39514
Other alias
HGNC (Hugo) SCFD2
LocusID (NCBI) 152579
Atlas_Id 73033
Location 4q12  [Link to chromosome band 4q12]
Location_base_pair Starts at 52872984 and ends at 53366075 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)
KIAA1211 (4q12) / SCFD2 (4q12)KLF3 (4p14) / SCFD2 (4q12)SCFD2 (4q12) / GSX2 (4q12)
SCFD2 (4q12) / KDM3B (5q31.2)SCFD2 (4q12) / NARS2 (11q14.1)SCFD2 (4q12) / SCFD2 (4q12)
SCFD2 (4q12) / SPINK2 (4q12)SCFD2 GSX2SCFD2 SPINK2
SCFD2 NARS2KLF3 SCFD2KIAA1211 SCFD2

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(4;11)(q12;q14) SCFD2/NARS2

External links

Nomenclature
HGNC (Hugo)SCFD2   30676
Cards
Entrez_Gene (NCBI)SCFD2  152579  sec1 family domain containing 2
AliasesSTXBP1L1
GeneCards (Weizmann)SCFD2
Ensembl hg19 (Hinxton)ENSG00000184178 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000184178 [Gene_View]  chr4:52872984-53366075 [Contig_View]  SCFD2 [Vega]
ICGC DataPortalENSG00000184178
TCGA cBioPortalSCFD2
AceView (NCBI)SCFD2
Genatlas (Paris)SCFD2
WikiGenes152579
SOURCE (Princeton)SCFD2
Genetics Home Reference (NIH)SCFD2
Genomic and cartography
GoldenPath hg38 (UCSC)SCFD2  -     chr4:52872984-53366075 -  4q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SCFD2  -     4q12   [Description]    (hg19-Feb_2009)
EnsemblSCFD2 - 4q12 [CytoView hg19]  SCFD2 - 4q12 [CytoView hg38]
Mapping of homologs : NCBISCFD2 [Mapview hg19]  SCFD2 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB074276 AK024713 AK096833 AY299407 BC012458
RefSeq transcript (Entrez)NM_152540
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SCFD2
Cluster EST : UnigeneHs.302287 [ NCBI ]
CGAP (NCI)Hs.302287
Alternative Splicing GalleryENSG00000184178
Gene ExpressionSCFD2 [ NCBI-GEO ]   SCFD2 [ EBI - ARRAY_EXPRESS ]   SCFD2 [ SEEK ]   SCFD2 [ MEM ]
Gene Expression Viewer (FireBrowse)SCFD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)152579
GTEX Portal (Tissue expression)SCFD2
Human Protein AtlasENSG00000184178-SCFD2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WU76   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WU76  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WU76
Splice isoforms : SwissVarQ8WU76
PhosPhoSitePlusQ8WU76
Domains : Interpro (EBI)Sec-1-like_dom2    Sec1-like   
Domain families : Pfam (Sanger)Sec1 (PF00995)   
Domain families : Pfam (NCBI)pfam00995   
Conserved Domain (NCBI)SCFD2
DMDM Disease mutations152579
Blocks (Seattle)SCFD2
SuperfamilyQ8WU76
Human Protein Atlas [tissue]ENSG00000184178-SCFD2 [tissue]
Peptide AtlasQ8WU76
HPRD15300
IPIIPI00419891   IPI00141564   IPI00964268   
Protein Interaction databases
DIP (DOE-UCLA)Q8WU76
IntAct (EBI)Q8WU76
FunCoupENSG00000184178
BioGRIDSCFD2
STRING (EMBL)SCFD2
ZODIACSCFD2
Ontologies - Pathways
QuickGOQ8WU76
Ontology : AmiGOmolecular_function  cellular_component  vesicle docking involved in exocytosis  biological_process  protein transport  
Ontology : EGO-EBImolecular_function  cellular_component  vesicle docking involved in exocytosis  biological_process  protein transport  
NDEx NetworkSCFD2
Atlas of Cancer Signalling NetworkSCFD2
Wikipedia pathwaysSCFD2
Orthology - Evolution
OrthoDB152579
GeneTree (enSembl)ENSG00000184178
Phylogenetic Trees/Animal Genes : TreeFamSCFD2
HOVERGENQ8WU76
HOGENOMQ8WU76
Homologs : HomoloGeneSCFD2
Homology/Alignments : Family Browser (UCSC)SCFD2
Gene fusions - Rearrangements
Fusion: TCGA_MDACCSCFD2 GSX2
Fusion: TCGA_MDACCSCFD2 SPINK2
Fusion: TCGA_MDACCSCFD2 NARS2
Fusion: TCGA_MDACCKLF3 SCFD2
Fusion: TCGA_MDACCKIAA1211 SCFD2
Fusion PortalSCFD2 GSX2
Fusion PortalSCFD2 SPINK2
Fusion PortalSCFD2 NARS2
Fusion PortalKLF3 SCFD2
Fusion PortalKIAA1211 SCFD2
Fusion : QuiverSCFD2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSCFD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SCFD2
dbVarSCFD2
ClinVarSCFD2
1000_GenomesSCFD2 
Exome Variant ServerSCFD2
ExAC (Exome Aggregation Consortium)ENSG00000184178
GNOMAD BrowserENSG00000184178
Genetic variants : HAPMAP152579
Genomic Variants (DGV)SCFD2 [DGVbeta]
DECIPHERSCFD2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSCFD2 
Mutations
ICGC Data PortalSCFD2 
TCGA Data PortalSCFD2 
Broad Tumor PortalSCFD2
OASIS PortalSCFD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSCFD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSCFD2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SCFD2
DgiDB (Drug Gene Interaction Database)SCFD2
DoCM (Curated mutations)SCFD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SCFD2 (select a term)
intoGenSCFD2
Cancer3DSCFD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETSCFD2
MedgenSCFD2
Genetic Testing Registry SCFD2
NextProtQ8WU76 [Medical]
TSGene152579
GENETestsSCFD2
Target ValidationSCFD2
Huge Navigator SCFD2 [HugePedia]
snp3D : Map Gene to Disease152579
BioCentury BCIQSCFD2
ClinGenSCFD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD152579
Chemical/Pharm GKB GenePA134953686
Clinical trialSCFD2
Miscellaneous
canSAR (ICR)SCFD2 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSCFD2
EVEXSCFD2
GoPubMedSCFD2
iHOPSCFD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Feb 23 18:50:46 CET 2018
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