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 ... See more...

Aliases for SEPTIN4 Gene

Aliases for SEPTIN4 Gene

  • Septin 4 2 3 5
  • HCDCREL-2 2 3 4
  • ARTS 2 3 4
  • 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
  • Septin-M 2 3
  • C17orf47 3 4
  • Septin-4 3 4
  • Hucep-7 2 3
  • PNUTL2 3 4
  • CE5B3 2 3
  • SEPT4 3 4
  • MART 2 3
  • SEP4 3 4
  • H5 2 3
  • Chromosome 17 Open Reading Frame 47 2
  • Uncharacterized Protein C17orf47 3
  • Peanut-Like 2 (Drosophila) 2
  • Bradeoin 2
  • BRADEION 3
  • FLJ40121 2
  • SEPTIN4 5

External Ids for SEPTIN4 Gene

Previous HGNC Symbols for SEPTIN4 Gene

  • PNUTL2
  • C17orf47
  • SEPT4

Summaries for SEPTIN4 Gene

Entrez Gene Summary for SEPTIN4 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 SEPTIN4 Gene

SEPTIN4 (Septin 4) is a Protein Coding gene. Diseases associated with SEPTIN4 include Pigmented Basal Cell Carcinoma and Amyotrophic Neuralgia. Among its related pathways are Apoptosis Modulation and Signaling and Actin Nucleation by ARP-WASP Complex.

UniProtKB/Swiss-Prot Summary for SEPTIN4 Gene

  • Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). Forms a filamentous structure with SEPTIN12, SEPTIN6, SEPTIN2 and probably SEPTIN4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830). 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 SEPTIN4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEPTIN4 Gene

Genomics for SEPTIN4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SEPTIN4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEPTIN4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEPTIN4

Genomic Locations for SEPTIN4 Gene

Latest Assembly
chr17:58,520,250-58,544,372
(GRCh38/hg38)
Size:
24,123 bases
Orientation:
Minus strand

Previous Assembly
chr17:56,597,617-56,621,689
(GRCh37/hg19 by Entrez Gene)
Size:
24,073 bases
Orientation:
Minus strand

chr17:56,597,611-56,618,179
(GRCh37/hg19 by Ensembl)
Size:
20,569 bases
Orientation:
Minus strand

Genomic View for SEPTIN4 Gene

Genes around SEPTIN4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEPTIN4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPTIN4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPTIN4 Gene

Proteins for SEPTIN4 Gene

  • Protein details for SEPTIN4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43236-SEPT4_HUMAN
    Recommended name:
    Septin-4
    Protein Accession:
    O43236
    Secondary Accessions:
    • A0A5F9ZHH3
    • B2RD42
    • B3KSX9
    • B4DXC6
    • B4DXV5
    • Q6IAP3
    • Q8N821
    • Q8NEP4
    • Q9H315
    • Q9UM58

    Protein attributes for SEPTIN4 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 SEPTIN8. In a mesenchymal cell line, interacts with SEPTIN9 isoform 2 variants HNA Trp-106 and Phe-111, but not the wild type SEPTIN9. Component of a septin core octomeric complex consisting of SEPTIN12, SEPTIN7, SEPTIN6 and SEPTIN2 or SEPTIN4 in the order 12-7-6-2-2-6-7-12 or 12-7-6-4-4-6-7-12 and located in the sperm annulus. Isoform ARTS, but no other isoforms, interacts with XIAP after the induction of apoptosis.
    Miscellaneous:
    • [Isoform ARTS]: May be defective in GTP-binding.

    Alternative splice isoforms for SEPTIN4 Gene

neXtProt entry for SEPTIN4 Gene

Post-translational modifications for SEPTIN4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SEPTIN4 Gene

Domains & Families for SEPTIN4 Gene

Gene Families for SEPTIN4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SEPTIN4 Gene

InterPro:
Blocks:
  • Cell division/GTP binding protein

Graphical View of Domain Structure for InterPro Entry

O43236

UniProtKB/Swiss-Prot:

SEPT4_HUMAN :
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
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 SEPTIN4: view

No data available for Suggested Antigen Peptide Sequences for SEPTIN4 Gene

Function for SEPTIN4 Gene

Molecular function for SEPTIN4 Gene

UniProtKB/Swiss-Prot Function:
Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). Forms a filamentous structure with SEPTIN12, SEPTIN6, SEPTIN2 and probably SEPTIN4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830). 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.

Phenotypes From GWAS Catalog for SEPTIN4 Gene

Gene Ontology (GO) - Molecular Function for SEPTIN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IMP 17105210
GO:0003924 GTPase activity IMP 17105210
GO:0005198 structural molecule activity TAS 9889007
GO:0005515 protein binding IPI 17685441
genes like me logo Genes that share ontologies with SEPTIN4: view
genes like me logo Genes that share phenotypes with SEPTIN4: view

Animal Models for SEPTIN4 Gene

MGI Knock Outs for SEPTIN4:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPTIN4

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SEPTIN4 Gene

Localization for SEPTIN4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPTIN4 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cell projection, cilium, flagellum. Note=In platelets, found in areas surrounding alpha-granules. Found in the sperm annulus (PubMed:25588830). {ECO:0000269 PubMed:11146656, ECO:0000269 PubMed:15029247, ECO:0000269 PubMed:15116257, ECO:0000269 PubMed:25588830}.
[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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SEPTIN4 gene
Compartment Confidence
cytoskeleton 5
mitochondrion 5
nucleus 5
cytosol 4

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SEPTIN4 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:0005741 mitochondrial outer membrane TAS --
genes like me logo Genes that share ontologies with SEPTIN4: view

Pathways & Interactions for SEPTIN4 Gene

PathCards logo

SuperPathways for SEPTIN4 Gene

genes like me logo Genes that share pathways with SEPTIN4: view

Pathways by source for SEPTIN4 Gene

1 BioSystems pathway for SEPTIN4 Gene
2 KEGG pathways for SEPTIN4 Gene
2 Qiagen pathways for SEPTIN4 Gene
  • Rho Family GTPases
  • RhoA Pathway

Gene Ontology (GO) - Biological Process for SEPTIN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process NAS 11146656
GO:0007049 cell cycle IEA --
GO:0007283 spermatogenesis IEA --
GO:0017157 regulation of exocytosis IBA 21873635
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with SEPTIN4: view

No data available for SIGNOR curated interactions for SEPTIN4 Gene

Drugs & Compounds for SEPTIN4 Gene

(1) Drugs for SEPTIN4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SEPTIN4: view

Transcripts for SEPTIN4 Gene

mRNA/cDNA for SEPTIN4 Gene

11 REFSEQ mRNAs :
35 NCBI additional mRNA sequence :
33 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPTIN4

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for SEPTIN4 Gene

No ASD Table

Relevant External Links for SEPTIN4 Gene

GeneLoc Exon Structure for
SEPTIN4

Expression for SEPTIN4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEPTIN4

SOURCE GeneReport for Unigene cluster for SEPTIN4 Gene:

Hs.287518

mRNA Expression by UniProt/SwissProt for SEPTIN4 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.

Evidence on tissue expression from TISSUES for SEPTIN4 Gene

  • Nervous system(5)
  • Liver(4.5)
  • Spleen(2.7)
  • Adrenal gland(2.6)
  • Blood(2.4)
  • Lymph node(2.4)
  • Heart(2.3)
  • Muscle(2.3)
  • Eye(2.3)
  • Skin(2.3)
  • Kidney(2.2)
  • Lung(2)
genes like me logo Genes that share expression patterns with SEPTIN4: view

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SEPTIN4 Gene

Orthologs for SEPTIN4 Gene

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

Orthologs for SEPTIN4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SEPT4 29 30
  • 99.58 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia C9H17orf47 29
  • 93.45 (n)
Cow
(Bos Taurus)
Mammalia SEPT4 29 30
  • 92.76 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sept4 29 30
  • 89.75 (n)
OneToOne
Septin4 16
Platypus
(Ornithorhynchus anatinus)
Mammalia SEPT4 30
  • 86 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SEPT4 30
  • 38 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SEPT4 29 30
  • 75.55 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SEPT4 30
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100485625 29
  • 72.48 (n)
Zebrafish
(Danio rerio)
Actinopterygii sept4b 29
  • 72.89 (n)
sept4a 30
  • 65 (a)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4966 29
Fruit Fly
(Drosophila melanogaster)
Insecta Sep4 30
  • 51 (a)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AER238C 29
  • 51.04 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC12 29 32 32
  • 50.76 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E21583g 29
  • 48.18 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU03795 29
  • 56.68 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes spn4 29
  • 51.85 (n)
Species where no ortholog for SEPTIN4 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 Vase (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 SEPTIN4 Gene

ENSEMBL:
Gene Tree for SEPTIN4 (if available)
TreeFam:
Gene Tree for SEPTIN4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEPTIN4: view image
Alliance of Genome Resources:
Additional Orthologs for SEPTIN4

Paralogs for SEPTIN4 Gene

No data available for Paralogs for SEPTIN4 Gene

Variants for SEPTIN4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEPTIN4 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs191011663 Benign: not provided 58,520,745(-) C/T
NM_001256782.1(SEPTIN4):c.1420G>A (p.Glu474Lys)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR
rs759101663 Likely Benign: not provided 58,525,714(-) C/T
NM_001256782.1(SEPTIN4):c.564G>A (p.Arg188=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs17741424 -- p.Glu311Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SEPTIN4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SEPTIN4 Gene

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

Variation tolerance for SEPTIN4 Gene

Gene Damage Index Score: 3.38; 54.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEPTIN4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEPTIN4
Leiden Open Variation Database (LOVD)
SEPTIN4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEPTIN4 Gene

Disorders for SEPTIN4 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SEPTIN4 Gene - From: COP

Disorder Aliases PubMed IDs
pigmented basal cell carcinoma
  • skin pigmented basal cell carcinoma
amyotrophic neuralgia
  • neuralgic amyotrophy
cardiomyopathy, familial hypertrophic, 9
  • cmh9
brachial plexus neuropathy
  • brachial plexopathy
retinitis pigmentosa 19
  • rp19
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SEPTIN4

genes like me logo Genes that share disorders with SEPTIN4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEPTIN4 Gene

Publications for SEPTIN4 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
  2. The novel human platelet septin SEPT8 is an interaction partner of SEPT4. (PMID: 15116257) Bläser S … Zieger B (Thrombosis and haemostasis 2004) 3 4 22
  3. Characterization and expression analysis of two human septin genes, PNUTL1 and PNUTL2. (PMID: 11167005) Zieger B … Ware J (Gene 2000) 3 4 22
  4. A novel mitochondrial septin-like protein, ARTS, mediates apoptosis dependent on its P-loop motif. (PMID: 11146656) Larisch S … Roberts AB (Nature cell biology 2000) 3 4 22
  5. SEPT12 orchestrates the formation of mammalian sperm annulus by organizing core octameric complexes with other SEPT proteins. (PMID: 25588830) Kuo YC … Kuo PL (Journal of cell science 2015) 3 4

Products for SEPTIN4 Gene

Sources for SEPTIN4 Gene