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SEPTIN4 (septin 4)

Identity

Alias_symbol (synonym)FLJ40121
Other aliasARTS
BRADEION
C17orf47
CE5B3
H5
MART
PNUTL2
SEP4
SEPT4
hCDCREL-2
hucep-7
HGNC (Hugo) SEPTIN4
LocusID (NCBI) 5414
Atlas_Id 60989
Location 17q22  [Link to chromosome band 17q22]
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)SEPTIN4   9165
Cards
Entrez_Gene (NCBI)SEPTIN4  5414  septin 4
AliasesARTS; BRADEION; C17orf47; CE5B3; 
H5; MART; PNUTL2; SEP4; SEPT4; hCDCREL-2; hucep-7
GeneCards (Weizmann)SEPTIN4
Ensembl hg19 (Hinxton)ENSG00000108387 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108387 [Gene_View]  ENSG00000108387 [Sequence]  - [Contig_View]  SEPTIN4 [Vega]
ICGC DataPortalENSG00000108387
TCGA cBioPortalSEPTIN4
AceView (NCBI)SEPTIN4
Genatlas (Paris)SEPTIN4
WikiGenes5414
SOURCE (Princeton)SEPTIN4
Genetics Home Reference (NIH)SEPTIN4
Genomic and cartography
GoldenPath hg38 (UCSC)SEPTIN4  -  
GoldenPath hg19 (UCSC)SEPTIN4  -  
GoldenPathSEPTIN4 - [CytoView hg19]  SEPTIN4 - [CytoView hg38]
ImmunoBaseENSG00000108387
Mapping of homologs : NCBISEPTIN4 [Mapview hg19]  SEPTIN4 [Mapview hg38]
OMIM603696   
Gene and transcription
Genbank (Entrez)AB002110 AB008753 AB010642 AF035811 AF073312
RefSeq transcript (Entrez)NM_001038704 NM_001198713 NM_001256782 NM_001256822 NM_001363803 NM_001368771 NM_001368772 NM_004574 NM_080415 NM_080416 NM_080417
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SEPTIN4
Alternative Splicing GalleryENSG00000108387
Gene ExpressionSEPTIN4 [ NCBI-GEO ]   SEPTIN4 [ EBI - ARRAY_EXPRESS ]   SEPTIN4 [ SEEK ]   SEPTIN4 [ MEM ]
Gene Expression Viewer (FireBrowse)SEPTIN4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5414
GTEX Portal (Tissue expression)SEPTIN4
Human Protein AtlasENSG00000108387-SEPTIN4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43236   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43236  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43236
Splice isoforms : SwissVarO43236
PhosPhoSitePlusO43236
Domaine pattern : Prosite (Expaxy)G_SEPTIN (PS51719)   
Domains : Interpro (EBI)G_SEPTIN_dom    P-loop_NTPase    Septin    Septin4   
Domain families : Pfam (Sanger)Septin (PF00735)   
Domain families : Pfam (NCBI)pfam00735   
Conserved Domain (NCBI)SEPTIN4
DMDM Disease mutations5414
Blocks (Seattle)SEPTIN4
SuperfamilyO43236
Human Protein Atlas [tissue]ENSG00000108387-SEPTIN4 [tissue]
Peptide AtlasO43236
HPRD08269
IPIIPI00939537   IPI00183878   IPI00952695   IPI00011589   IPI00953305   IPI00026430   IPI00044767   IPI00956132   
Protein Interaction databases
DIP (DOE-UCLA)O43236
IntAct (EBI)O43236
FunCoupENSG00000108387
BioGRIDSEPTIN4
STRING (EMBL)SEPTIN4
ZODIACSEPTIN4
Ontologies - Pathways
QuickGOO43236
Ontology : AmiGOmagnesium ion binding  GTPase activity  GTPase activity  structural molecule activity  protein binding  GTP binding  nucleus  nucleoplasm  mitochondrion  mitochondrial outer membrane  cytosol  septin ring  apoptotic process  spermatogenesis  synaptic vesicle  microtubule cytoskeleton  regulation of exocytosis  cell differentiation  septin complex  septin complex  septin complex  positive regulation of protein ubiquitination  protein homodimerization activity  regulation of apoptotic process  positive regulation of apoptotic process  protein homooligomerization  cytoskeleton-dependent cytokinesis  sperm annulus  sperm annulus  positive regulation of intrinsic apoptotic signaling pathway  
Ontology : EGO-EBImagnesium ion binding  GTPase activity  GTPase activity  structural molecule activity  protein binding  GTP binding  nucleus  nucleoplasm  mitochondrion  mitochondrial outer membrane  cytosol  septin ring  apoptotic process  spermatogenesis  synaptic vesicle  microtubule cytoskeleton  regulation of exocytosis  cell differentiation  septin complex  septin complex  septin complex  positive regulation of protein ubiquitination  protein homodimerization activity  regulation of apoptotic process  positive regulation of apoptotic process  protein homooligomerization  cytoskeleton-dependent cytokinesis  sperm annulus  sperm annulus  positive regulation of intrinsic apoptotic signaling pathway  
NDEx NetworkSEPTIN4
Atlas of Cancer Signalling NetworkSEPTIN4
Wikipedia pathwaysSEPTIN4
Orthology - Evolution
OrthoDB5414
GeneTree (enSembl)ENSG00000108387
Phylogenetic Trees/Animal Genes : TreeFamSEPTIN4
HOGENOMO43236
Homologs : HomoloGeneSEPTIN4
Homology/Alignments : Family Browser (UCSC)SEPTIN4
Gene fusions - Rearrangements
Fusion : QuiverSEPTIN4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSEPTIN4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SEPTIN4
dbVarSEPTIN4
ClinVarSEPTIN4
1000_GenomesSEPTIN4 
Exome Variant ServerSEPTIN4
ExAC (Exome Aggregation Consortium)ENSG00000108387
GNOMAD BrowserENSG00000108387
Varsome BrowserSEPTIN4
Genetic variants : HAPMAP5414
Genomic Variants (DGV)SEPTIN4 [DGVbeta]
DECIPHERSEPTIN4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSEPTIN4 
Mutations
ICGC Data PortalSEPTIN4 
TCGA Data PortalSEPTIN4 
Broad Tumor PortalSEPTIN4
OASIS PortalSEPTIN4 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDSEPTIN4
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 SEPTIN4
DgiDB (Drug Gene Interaction Database)SEPTIN4
DoCM (Curated mutations)SEPTIN4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SEPTIN4 (select a term)
intoGenSEPTIN4
Cancer3DSEPTIN4(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603696   
Orphanet
DisGeNETSEPTIN4
MedgenSEPTIN4
Genetic Testing Registry SEPTIN4
NextProtO43236 [Medical]
TSGene5414
GENETestsSEPTIN4
Target ValidationSEPTIN4
Huge Navigator SEPTIN4 [HugePedia]
snp3D : Map Gene to Disease5414
BioCentury BCIQSEPTIN4
ClinGenSEPTIN4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5414
Chemical/Pharm GKB GenePA33487
Clinical trialSEPTIN4
Miscellaneous
canSAR (ICR)SEPTIN4 (select the gene name)
DataMed IndexSEPTIN4
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSEPTIN4
EVEXSEPTIN4
GoPubMedSEPTIN4
iHOPSEPTIN4
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 7 14:05:09 CET 2020

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