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Aliases for SEPT4 Gene

Aliases for SEPT4 Gene

  • Septin 4 2 3 5
  • Apoptosis-Related Protein In The TGF-Beta Signaling Pathway 3 4
  • Cell Division Control-Related Protein 2 3 4
  • Peanut-Like Protein 2 3 4
  • Cerebral Protein 7 3 4
  • Brain Protein H5 3 4
  • Bradeion Beta 3 4
  • CE5B3 Beta 3 4
  • HCDCREL-2 3 4
  • Septin-M 2 3
  • PNUTL2 3 4
  • ARTS 3 4
  • SEP4 3 4
  • Peanut-Like 2 (Drosophila) 2
  • Bradeoin 2
  • BRADEION 3
  • Septin-4 3
  • Hucep-7 3
  • CE5B3 3
  • MART 3
  • H5 3

External Ids for SEPT4 Gene

Previous HGNC Symbols for SEPT4 Gene

  • PNUTL2

Previous GeneCards Identifiers for SEPT4 Gene

  • GC17M053953
  • GC17M056597
  • GC17M051957

Summaries for SEPT4 Gene

Entrez Gene Summary for SEPT4 Gene

  • This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in apoptosis and cancer. [provided by RefSeq, Nov 2010]

GeneCards Summary for SEPT4 Gene

SEPT4 (Septin 4) is a Protein Coding gene. Diseases associated with SEPT4 include Artemis Deficiency and Parkinson Disease, Late-Onset. Among its related pathways are Actin Nucleation by ARP-WASP Complex and Apoptosis Modulation and Signaling. GO annotations related to this gene include GTP binding and structural molecule activity. An important paralog of this gene is SEPT5.

UniProtKB/Swiss-Prot for SEPT4 Gene

  • Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in platelet secretion. Isoform ARTS, but not the other isoforms, is required for the induction of cell death mediated by TGF-beta and by other apoptotic stimuli.

Gene Wiki entry for SEPT4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEPT4 Gene

Genomics for SEPT4 Gene

Regulatory Elements for SEPT4 Gene

Enhancers for SEPT4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F058565 1.1 Ensembl ENCODE 12.9 -24.8 -24795 1.2 BCOR SIX4 ZMYM3 USF2 GATAD2B ZBTB40 ZNF217 SREBF1 MBD2 RAD51 RAD51C C17orf47 SEPT4 MTMR4 TEX14 PIR55527
GH17F058567 0.4 Ensembl 12.3 -27.4 -27384 0.8 CEBPG REST C17orf47 SEPT4 MTMR4 PIR55527
GH17F058568 0.4 ENCODE 12.3 -27.9 -27877 0.2 REST TRIM37 C17orf47 SEPT4 MTMR4 PIR55527
GH17F058569 0.4 Ensembl 12.3 -28.3 -28283 0.6 HLF CEBPG REST C17orf47 SEPT4 MTMR4 PIR55527
GH17F058968 1.1 FANTOM5 Ensembl ENCODE 12.2 -428.4 -428430 1.1 ZFHX2 POLR2A MTA2 SCRT2 EGR2 SEPT4 C17orf47 ENSG00000263938 GC17M058973
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SEPT4 on UCSC Golden Path with GeneCards custom track

Genomic Location for SEPT4 Gene

Chromosome:
17
Start:
58,520,250 bp from pter
End:
58,540,818 bp from pter
Size:
20,569 bases
Orientation:
Minus strand

Genomic View for SEPT4 Gene

Genes around SEPT4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEPT4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPT4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPT4 Gene

Proteins for SEPT4 Gene

  • Protein details for SEPT4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43236-SEPT4_HUMAN
    Recommended name:
    Septin-4
    Protein Accession:
    O43236
    Secondary Accessions:
    • B2RD42
    • B3KSX9
    • B4DXC6
    • B4DXV5
    • Q6IAP3
    • Q9H315
    • Q9UM58

    Protein attributes for SEPT4 Gene

    Size:
    478 amino acids
    Molecular mass:
    55098 Da
    Quaternary structure:
    • Septins polymerize into heterooligomeric protein complexes that form filaments, and can associate with cellular membranes, actin filaments and microtubules. GTPase activity is required for filament formation (By similarity). Interacts with SEPT8. In a mesenchymal cell line, interacts with SEPT9 isoform 2 variants HNA Trp-106 and Phe-111, but not the wild type SEPT9. Isoform ARTS, but no other isoforms, interacts with XIAP after the induction of apoptosis.

    Alternative splice isoforms for SEPT4 Gene

neXtProt entry for SEPT4 Gene

Post-translational modifications for SEPT4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SEPT4 Gene

Domains & Families for SEPT4 Gene

Gene Families for SEPT4 Gene

Protein Domains for SEPT4 Gene

Graphical View of Domain Structure for InterPro Entry

O43236

UniProtKB/Swiss-Prot:

SEPT4_HUMAN :
  • Contains 1 septin-type G (guanine nucleotide-binding) domain.
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
Domain:
  • Contains 1 septin-type G (guanine nucleotide-binding) domain.
Family:
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
genes like me logo Genes that share domains with SEPT4: view

No data available for Suggested Antigen Peptide Sequences for SEPT4 Gene

Function for SEPT4 Gene

Molecular function for SEPT4 Gene

UniProtKB/Swiss-Prot Function:
Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in platelet secretion. Isoform ARTS, but not the other isoforms, is required for the induction of cell death mediated by TGF-beta and by other apoptotic stimuli.

Gene Ontology (GO) - Molecular Function for SEPT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity TAS 9889007
GO:0005198 structural molecule activity TAS 9889007
GO:0005515 protein binding IPI 17685441
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with SEPT4: view
genes like me logo Genes that share phenotypes with SEPT4: view

Animal Models for SEPT4 Gene

MGI Knock Outs for SEPT4:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SEPT4 Gene

Localization for SEPT4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPT4 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Note=In platelets, found in areas surrounding alpha-granules. {ECO:0000269 PubMed:11146656, ECO:0000269 PubMed:15029247, ECO:0000269 PubMed:15116257}.
Isoform ARTS: Mitochondrion. Nucleus. Note=While predominantly localized in the mitochondria under resting conditions, isoform ARTS translocates into the nucleus after TGF-beta treatment and apoptosis induction.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SEPT4 Gene COMPARTMENTS Subcellular localization image for SEPT4 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytoskeleton 4
cytosol 3

Gene Ontology (GO) - Cellular Components for SEPT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 11146656
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion NAS 11146656
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with SEPT4: view

Pathways & Interactions for SEPT4 Gene

genes like me logo Genes that share pathways with SEPT4: view

Pathways by source for SEPT4 Gene

1 BioSystems pathway for SEPT4 Gene
2 KEGG pathways for SEPT4 Gene
2 Qiagen pathways for SEPT4 Gene

Gene Ontology (GO) - Biological Process for SEPT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process NAS 11146656
GO:0007049 cell cycle IEA --
GO:0007286 spermatid development IEA --
GO:0007420 brain development IEA --
GO:0030382 sperm mitochondrion organization IEA --
genes like me logo Genes that share ontologies with SEPT4: view

No data available for SIGNOR curated interactions for SEPT4 Gene

Drugs & Compounds for SEPT4 Gene

(1) Drugs for SEPT4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SEPT4: view

Transcripts for SEPT4 Gene

Unigene Clusters for SEPT4 Gene

Septin 4:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SEPT4 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c · 6d · 6e ^ 7a · 7b · 7c ^ 8a ·
SP1: - - - - - - - - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - - - - - - - - -
SP4: - - - - - - - - - - - - - - -
SP5: - - - - - - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - - - - - - - -
SP7: - - - - - - - - - - - -
SP8: - - - - - - - - - - - - - - - - - -
SP9: - - - - - - - - - - - - - - - - - -
SP10: - - - - - - - - -
SP11: - - - - - - - - - - - - - -
SP12: - - - - - - - - - - - - - - - - - - -
SP13: - - - - - - - - - - - -
SP14: - - - - - - - - - - -
SP15:
SP16: - - - - - - - - - - - - - -
SP17: - - - - - - - - -
SP18: - - - - - - - -
SP19: - - - - -
SP20: - - - -
SP21: - - - - - - - - - - -
SP22: - - - - - - - - -
SP23: -
SP24:
SP25:

ExUns: 8b · 8c · 8d · 8e ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18
SP1: - - -
SP2: - - -
SP3: -
SP4: - -
SP5: - - -
SP6: - - -
SP7: - - -
SP8: - - -
SP9: - - -
SP10: - -
SP11:
SP12: - -
SP13: - -
SP14: - - - - - - - - - -
SP15: - -
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:

Relevant External Links for SEPT4 Gene

GeneLoc Exon Structure for
SEPT4
ECgene alternative splicing isoforms for
SEPT4

Expression for SEPT4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SEPT4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SEPT4 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x6.7), Brain - Substantia nigra (x5.5), Brain - Putamen (basal ganglia) (x4.9), Brain - Hippocampus (x4.8), and Brain - Amygdala (x4.2).

Protein differential expression in normal tissues from HIPED for SEPT4 Gene

This gene is overexpressed in Frontal cortex (18.9), Spinal cord (14.4), Retina (13.4), and Spleen (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SEPT4 Gene



SOURCE GeneReport for Unigene cluster for SEPT4 Gene:

Hs.287518

mRNA Expression by UniProt/SwissProt for SEPT4 Gene:

O43236-SEPT4_HUMAN
Tissue specificity: Widely expressed in adult and fetal tissues with highest expression in adult brain (at protein level), heart, liver and adrenal gland and fetal heart, kidney, liver and lung. Also expressed in colorectal cancers and malignant melanomas. Expressed in platelets.
genes like me logo Genes that share expression patterns with SEPT4: view

Primer Products

No data available for Protein tissue co-expression partners for SEPT4 Gene

Orthologs for SEPT4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SEPT4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEPT4 34 35
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia C9H17orf47 34
  • 93.45 (n)
cow
(Bos Taurus)
Mammalia SEPT4 34 35
  • 92.76 (n)
mouse
(Mus musculus)
Mammalia Sept4 34 16 35
  • 89.75 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SEPT4 35
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SEPT4 35
  • 38 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEPT4 34 35
  • 75.55 (n)
lizard
(Anolis carolinensis)
Reptilia SEPT4 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485625 34
  • 72.48 (n)
zebrafish
(Danio rerio)
Actinopterygii sept4b 34
  • 72.89 (n)
sept4a 35
  • 65 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4966 34
fruit fly
(Drosophila melanogaster)
Insecta Sep4 35
  • 51 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER238C 34
  • 51.04 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC12 34 37
  • 50.76 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E21583g 34
  • 48.18 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03795 34
  • 56.68 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes spn4 34
  • 51.85 (n)
Species where no ortholog for SEPT4 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SEPT4 Gene

ENSEMBL:
Gene Tree for SEPT4 (if available)
TreeFam:
Gene Tree for SEPT4 (if available)

Paralogs for SEPT4 Gene

Variants for SEPT4 Gene

Sequence variations from dbSNP and Humsavar for SEPT4 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1057065 -- 58,521,294(-) GGGCG(A/G)CGAGT intron-variant, nc-transcript-variant, reference, synonymous-codon, utr-variant-3-prime
rs1057068 -- 58,521,078(-) GTGAC(A/G)CGGGA intron-variant, nc-transcript-variant, reference, synonymous-codon, utr-variant-3-prime
rs10719315 -- 58,520,853(+) GGGAG(-/A)AAAGG intron-variant, nc-transcript-variant, utr-variant-3-prime
rs111699715 -- 58,521,649(+) GATCT(C/G/T)ACAAA intron-variant
rs111758224 -- 58,537,870(+) TGCCC(C/T)GTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SEPT4 Gene

Variant ID Type Subtype PubMed ID
esv3640886 CNV loss 21293372
esv3640887 CNV loss 21293372

Variation tolerance for SEPT4 Gene

Residual Variation Intolerance Score: 37.2% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SEPT4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEPT4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEPT4 Gene

Disorders for SEPT4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SEPT4 Gene - From: DISEASES and Novoseek

Disorder Aliases PubMed IDs
artemis deficiency
parkinson disease, late-onset
  • parkinson disease
- elite association - COSMIC cancer census association via MalaCards
Search SEPT4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SEPT4

Genetic Association Database (GAD)
SEPT4
Human Genome Epidemiology (HuGE) Navigator
SEPT4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEPT4
genes like me logo Genes that share disorders with SEPT4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEPT4 Gene

Publications for SEPT4 Gene

  1. Characterization of a novel gene, PNUTL2, on human chromosome 17q22- q23 and its exclusion as the Meckel syndrome gene. (PMID: 9889007) Paavola P. … Peltonen L. (Genomics 1999) 2 3 4 22 64
  2. The novel human platelet septin SEPT8 is an interaction partner of SEPT4. (PMID: 15116257) Blaeser S. … Zieger B. (Thromb. Haemost. 2004) 3 4 22 64
  3. A novel mitochondrial septin-like protein, ARTS, mediates apoptosis dependent on its P-loop motif. (PMID: 11146656) Larisch S. … Roberts A.B. (Nat. Cell Biol. 2000) 3 4 22 64
  4. Characterization and expression analysis of two human septin genes, PNUTL1 and PNUTL2. (PMID: 11167005) Zieger B. … Ware J. (Gene 2000) 3 4 22 64
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64

Products for SEPT4 Gene

Sources for SEPT4 Gene

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