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SEPTIN3 (septin 3)

Identity

Alias_namesSEP3
Other aliasbK250D10.3
HGNC (Hugo) SEPTIN3
LocusID (NCBI) 55964
Atlas_Id 42262
Location 22q13.2  [Link to chromosome band 22q13]
Location_base_pair Starts at 41976927 and ends at 41998221 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)
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


External links

Nomenclature
HGNC (Hugo)SEPTIN3   10750
Cards
Entrez_Gene (NCBI)SEPTIN3  55964  septin 3
AliasesSEP3; bK250D10.3
GeneCards (Weizmann)SEPTIN3
Ensembl hg19 (Hinxton)ENSG00000100167 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100167 [Gene_View]  ENSG00000100167 [Sequence]  chr22:41976927-41998221 [Contig_View]  SEPTIN3 [Vega]
ICGC DataPortalENSG00000100167
TCGA cBioPortalSEPTIN3
AceView (NCBI)SEPTIN3
Genatlas (Paris)SEPTIN3
WikiGenes55964
SOURCE (Princeton)SEPTIN3
Genetics Home Reference (NIH)SEPTIN3
Genomic and cartography
GoldenPath hg38 (UCSC)SEPTIN3  -     chr22:41976927-41998221 +  22q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SEPTIN3  -     22q13.2   [Description]    (hg19-Feb_2009)
GoldenPathSEPTIN3 - 22q13.2 [CytoView hg19]  SEPTIN3 - 22q13.2 [CytoView hg38]
ImmunoBaseENSG00000100167
Mapping of homologs : NCBISEPTIN3 [Mapview hg19]  SEPTIN3 [Mapview hg38]
OMIM608314   
Gene and transcription
Genbank (Entrez)AB209152 AF285107 AF285108 AF285109 AI341333
RefSeq transcript (Entrez)NM_001363845 NM_019106 NM_145733 NM_145734
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SEPTIN3
Cluster EST : UnigeneHs.120483 [ NCBI ]
CGAP (NCI)Hs.120483
Alternative Splicing GalleryENSG00000100167
Gene ExpressionSEPTIN3 [ NCBI-GEO ]   SEPTIN3 [ EBI - ARRAY_EXPRESS ]   SEPTIN3 [ SEEK ]   SEPTIN3 [ MEM ]
Gene Expression Viewer (FireBrowse)SEPTIN3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55964
GTEX Portal (Tissue expression)SEPTIN3
Human Protein AtlasENSG00000100167-SEPTIN3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UH03   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UH03  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UH03
Splice isoforms : SwissVarQ9UH03
PhosPhoSitePlusQ9UH03
Domaine pattern : Prosite (Expaxy)G_SEPTIN (PS51719)   
Domains : Interpro (EBI)G_SEPTIN_dom    P-loop_NTPase    Septin    Septin3   
Domain families : Pfam (Sanger)Septin (PF00735)   
Domain families : Pfam (NCBI)pfam00735   
Conserved Domain (NCBI)SEPTIN3
DMDM Disease mutations55964
Blocks (Seattle)SEPTIN3
PDB (RSDB)3SOP    4Z51    4Z54   
PDB Europe3SOP    4Z51    4Z54   
PDB (PDBSum)3SOP    4Z51    4Z54   
PDB (IMB)3SOP    4Z51    4Z54   
Structural Biology KnowledgeBase3SOP    4Z51    4Z54   
SCOP (Structural Classification of Proteins)3SOP    4Z51    4Z54   
CATH (Classification of proteins structures)3SOP    4Z51    4Z54   
SuperfamilyQ9UH03
Human Protein Atlas [tissue]ENSG00000100167-SEPTIN3 [tissue]
Peptide AtlasQ9UH03
HPRD10515
IPIIPI00384187   IPI00745056   IPI00022652   IPI01012112   IPI00873749   IPI00940800   
Protein Interaction databases
DIP (DOE-UCLA)Q9UH03
IntAct (EBI)Q9UH03
FunCoupENSG00000100167
BioGRIDSEPTIN3
STRING (EMBL)SEPTIN3
ZODIACSEPTIN3
Ontologies - Pathways
QuickGOQ9UH03
Ontology : AmiGOmolecular_function  GTPase activity  protein binding  GTP binding  septin ring  microtubule cytoskeleton  cell junction  septin complex  protein-containing complex scaffold activity  identical protein binding  neuron projection  cytoskeleton-dependent cytokinesis  presynaptic cytoskeleton  
Ontology : EGO-EBImolecular_function  GTPase activity  protein binding  GTP binding  septin ring  microtubule cytoskeleton  cell junction  septin complex  protein-containing complex scaffold activity  identical protein binding  neuron projection  cytoskeleton-dependent cytokinesis  presynaptic cytoskeleton  
Pathways : KEGGBacterial invasion of epithelial cells   
NDEx NetworkSEPTIN3
Atlas of Cancer Signalling NetworkSEPTIN3
Wikipedia pathwaysSEPTIN3
Orthology - Evolution
OrthoDB55964
GeneTree (enSembl)ENSG00000100167
Phylogenetic Trees/Animal Genes : TreeFamSEPTIN3
HOGENOMQ9UH03
Homologs : HomoloGeneSEPTIN3
Homology/Alignments : Family Browser (UCSC)SEPTIN3
Gene fusions - Rearrangements
Fusion : QuiverSEPTIN3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSEPTIN3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SEPTIN3
dbVarSEPTIN3
ClinVarSEPTIN3
1000_GenomesSEPTIN3 
Exome Variant ServerSEPTIN3
ExAC (Exome Aggregation Consortium)ENSG00000100167
GNOMAD BrowserENSG00000100167
Varsome BrowserSEPTIN3
Genetic variants : HAPMAP55964
Genomic Variants (DGV)SEPTIN3 [DGVbeta]
DECIPHERSEPTIN3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSEPTIN3 
Mutations
ICGC Data PortalSEPTIN3 
TCGA Data PortalSEPTIN3 
Broad Tumor PortalSEPTIN3
OASIS PortalSEPTIN3 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDSEPTIN3
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 SEPTIN3
DgiDB (Drug Gene Interaction Database)SEPTIN3
DoCM (Curated mutations)SEPTIN3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SEPTIN3 (select a term)
intoGenSEPTIN3
Cancer3DSEPTIN3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608314   
Orphanet
DisGeNETSEPTIN3
MedgenSEPTIN3
Genetic Testing Registry SEPTIN3
NextProtQ9UH03 [Medical]
TSGene55964
GENETestsSEPTIN3
Target ValidationSEPTIN3
Huge Navigator SEPTIN3 [HugePedia]
snp3D : Map Gene to Disease55964
BioCentury BCIQSEPTIN3
ClinGenSEPTIN3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55964
Chemical/Pharm GKB GenePA24355
Clinical trialSEPTIN3
Miscellaneous
canSAR (ICR)SEPTIN3 (select the gene name)
DataMed IndexSEPTIN3
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSEPTIN3
EVEXSEPTIN3
GoPubMedSEPTIN3
iHOPSEPTIN3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jun 7 18:16:38 CEST 2019

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