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SEPTIN8 (septin 8)

Identity

Alias_names9-Sep
Alias_symbol (synonym)KIAA0202
SEP2
Other aliasSEPT8
HGNC (Hugo) SEPTIN8
LocusID (NCBI) 23176
Atlas_Id 46482
Location 5q31.1  [Link to chromosome band 5q31]
Location_base_pair Starts at 132756005 and ends at 132777375 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


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]

Solid Tumors TT_del05q31q31ID100029


External links

Nomenclature
HGNC (Hugo)SEPTIN8   16511
Cards
Entrez_Gene (NCBI)SEPTIN8  23176  septin 8
AliasesSEP2; SEPT8
GeneCards (Weizmann)SEPTIN8
Ensembl hg19 (Hinxton)ENSG00000164402 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164402 [Gene_View]  ENSG00000164402 [Sequence]  chr5:132756005-132777375 [Contig_View]  SEPTIN8 [Vega]
ICGC DataPortalENSG00000164402
TCGA cBioPortalSEPTIN8
AceView (NCBI)SEPTIN8
Genatlas (Paris)SEPTIN8
WikiGenes23176
SOURCE (Princeton)SEPTIN8
Genetics Home Reference (NIH)SEPTIN8
Genomic and cartography
GoldenPath hg38 (UCSC)SEPTIN8  -     chr5:132756005-132777375 -  -   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SEPTIN8  -     -   [Description]    (hg19-Feb_2009)
GoldenPathSEPTIN8 - - [CytoView hg19]  SEPTIN8 - - [CytoView hg38]
ImmunoBaseENSG00000164402
Mapping of homologs : NCBISEPTIN8 [Mapview hg19]  SEPTIN8 [Mapview hg38]
OMIM608418   
Gene and transcription
Genbank (Entrez)AF179995 AF440761 AF440762 AF440763 AI087126
RefSeq transcript (Entrez)NM_001098811 NM_001098812 NM_001098813 NM_001300798 NM_001300799 NM_015146
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SEPTIN8
Cluster EST : UnigeneHs.522057 [ NCBI ]
CGAP (NCI)Hs.522057
Alternative Splicing GalleryENSG00000164402
Gene ExpressionSEPTIN8 [ NCBI-GEO ]   SEPTIN8 [ EBI - ARRAY_EXPRESS ]   SEPTIN8 [ SEEK ]   SEPTIN8 [ MEM ]
Gene Expression Viewer (FireBrowse)SEPTIN8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23176
GTEX Portal (Tissue expression)SEPTIN8
Human Protein AtlasENSG00000164402-SEPTIN8 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92599   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92599  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92599
Splice isoforms : SwissVarQ92599
PhosPhoSitePlusQ92599
Domaine pattern : Prosite (Expaxy)G_SEPTIN (PS51719)   
Domains : Interpro (EBI)G_SEPTIN_dom    P-loop_NTPase    SEPT8    Septin   
Domain families : Pfam (Sanger)Septin (PF00735)   
Domain families : Pfam (NCBI)pfam00735   
Conserved Domain (NCBI)SEPTIN8
DMDM Disease mutations23176
Blocks (Seattle)SEPTIN8
SuperfamilyQ92599
Human Protein Atlas [tissue]ENSG00000164402-SEPTIN8 [tissue]
Peptide AtlasQ92599
IPIIPI00549434   IPI00022082   IPI00787280   IPI00479741   IPI00658113   IPI00658216   IPI00658185   IPI00927728   IPI00925967   IPI00925741   
Protein Interaction databases
DIP (DOE-UCLA)Q92599
IntAct (EBI)Q92599
FunCoupENSG00000164402
BioGRIDSEPTIN8
STRING (EMBL)SEPTIN8
ZODIACSEPTIN8
Ontologies - Pathways
QuickGOQ92599
Ontology : AmiGOGTPase activity  protein binding  GTP binding  septin ring  microtubule cytoskeleton  cell junction  axon  synaptic vesicle membrane  septin complex  regulation of SNARE complex assembly  cytoskeleton-dependent cytokinesis  presynapse  
Ontology : EGO-EBIGTPase activity  protein binding  GTP binding  septin ring  microtubule cytoskeleton  cell junction  axon  synaptic vesicle membrane  septin complex  regulation of SNARE complex assembly  cytoskeleton-dependent cytokinesis  presynapse  
NDEx NetworkSEPTIN8
Atlas of Cancer Signalling NetworkSEPTIN8
Wikipedia pathwaysSEPTIN8
Orthology - Evolution
OrthoDB23176
GeneTree (enSembl)ENSG00000164402
Phylogenetic Trees/Animal Genes : TreeFamSEPTIN8
HOGENOMQ92599
Homologs : HomoloGeneSEPTIN8
Homology/Alignments : Family Browser (UCSC)SEPTIN8
Gene fusions - Rearrangements
Fusion : MitelmanSEPT8/AFF4 [5q31.1/5q31.1]  
Fusion : QuiverSEPTIN8
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSEPTIN8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SEPTIN8
dbVarSEPTIN8
ClinVarSEPTIN8
1000_GenomesSEPTIN8 
Exome Variant ServerSEPTIN8
ExAC (Exome Aggregation Consortium)ENSG00000164402
GNOMAD BrowserENSG00000164402
Varsome BrowserSEPTIN8
Genetic variants : HAPMAP23176
Genomic Variants (DGV)SEPTIN8 [DGVbeta]
DECIPHERSEPTIN8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSEPTIN8 
Mutations
ICGC Data PortalSEPTIN8 
TCGA Data PortalSEPTIN8 
Broad Tumor PortalSEPTIN8
OASIS PortalSEPTIN8 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDSEPTIN8
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 SEPTIN8
DgiDB (Drug Gene Interaction Database)SEPTIN8
DoCM (Curated mutations)SEPTIN8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SEPTIN8 (select a term)
intoGenSEPTIN8
Cancer3DSEPTIN8(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608418   
Orphanet
DisGeNETSEPTIN8
MedgenSEPTIN8
Genetic Testing Registry SEPTIN8
NextProtQ92599 [Medical]
TSGene23176
GENETestsSEPTIN8
Target ValidationSEPTIN8
Huge Navigator SEPTIN8 [HugePedia]
snp3D : Map Gene to Disease23176
BioCentury BCIQSEPTIN8
ClinGenSEPTIN8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23176
Chemical/Pharm GKB GenePA134879270
Clinical trialSEPTIN8
Miscellaneous
canSAR (ICR)SEPTIN8 (select the gene name)
DataMed IndexSEPTIN8
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSEPTIN8
EVEXSEPTIN8
GoPubMedSEPTIN8
iHOPSEPTIN8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Aug 26 18:28:09 CEST 2019

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