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
  • 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
  • SEPT4 3 4
  • ARTS 3 4
  • SEP4 3 4
  • Chromosome 17 Open Reading Frame 47 2
  • Uncharacterized Protein C17orf47 3
  • Peanut-Like 2 (Drosophila) 2
  • AC005666.1 5
  • BRADEION 3
  • Septin-4 3
  • C17orf47 3
  • Bradeoin 2
  • Hucep-7 3
  • CE5B3 3
  • MART 3
  • H5 3

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 Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation and Parkinson Disease, Late-Onset. Among its related pathways are ERK Signaling and Nanomaterial induced apoptosis.

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

Additional gene information 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 for SEPTIN4 Gene

Promoters and enhancers for SEPTIN4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J058538 Enhancer 0.8 ENCODE CraniofacialAtlas dbSUPER 750.6 +1.3 1273 2.7 PKNOX1 USF1 MEF2D NR2F2 ENSG00000108387 SEPTIN4 lnc-C17orf47-2 RNF43 RAD51C TRIM37 SEPTIN4-AS1
GH17J058541 Enhancer 0.7 Ensembl ENCODE dbSUPER 750.6 -0.8 -783 0.8 PRDM1 CTCF ENSG00000108387 SEPTIN4 lnc-C17orf47-3 SEPTIN4-AS1
GH17J058511 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.1 +24.6 24602 8.9 E2F8 SIN3A SP1 ZBTB40 CTCF SIX5 ZBTB6 FOXA1 RBPJ POLR2A MTMR4 MKS1 SRSF1 TRIM37 RAD51C SMG8 VEZF1 ENSG00000108387 GDPD1 ENSG00000224738
GH17J058503 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.9 +34.9 34900 5 ZNF24 SP1 FOXA1 RELA HLF CEBPG MLLT1 ZNF687 IKZF1 CEBPA TRIM37 RAD51C RNF43 ENSG00000108387 SEPTIN4 SUPT4H1 MKS1 lnc-SEPT4-1 MTMR4 lnc-HSF5-1
GH17J058575 Enhancer 1 Ensembl ENCODE 11.7 -35.8 -35783 3.2 PPP1R10 CTCF ZNF217 COPS2 HLF RAD21 ELF3 MAFK TFE3 BACH1 TRIM37 RAD51C ENSG00000224738 MKS1 ENSG00000108387 SEPTIN4 SRSF1 MTMR4 VEZF1 TEX14
- 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 UCSC Golden Path with GeneCards custom track

Genomic Locations for SEPTIN4 Gene

Genomic Locations for SEPTIN4 Gene
chr17:58,520,250-58,540,818
(GRCh38/hg38)
Size:
20,569 bases
Orientation:
Minus strand
chr17:56,618,948-56,621,733
(GRCh37/hg19)
Size:
2,786 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:
    • B2RD42
    • B3KSX9
    • B4DXC6
    • B4DXV5
    • Q6IAP3
    • 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.

    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

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: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
GO:0005525 GTP binding IMP 17105210
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:

Animal Model Products

CRISPR Products

miRNA for SEPTIN4 Gene

miRTarBase miRNAs that target SEPTIN4

Inhibitory RNA Products

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

Clone Products

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
plasma membrane 1

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:0005739 mitochondrion NAS 11146656
GO:0005741 mitochondrial outer membrane TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SEPTIN4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SEPTIN4 Gene

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

Interacting Proteins for SEPTIN4 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000354874 O43236-SEPT4_HUMAN for SEPTIN4 Gene via STRING IID

Gene Ontology (GO) - Biological Process for SEPTIN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process NAS 11146656
GO:0007420 brain development IEA --
GO:0017157 regulation of exocytosis IBA 21873635
GO:0030382 sperm mitochondrion organization IEA --
GO:0031398 positive regulation of protein ubiquitination IDA 21185211
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

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

No ASD Table

Relevant External Links for SEPTIN4 Gene

GeneLoc Exon Structure for
SEPTIN4
ECgene alternative splicing isoforms for
SEPTIN4

Expression for SEPTIN4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of SEPTIN4 Gene:

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(4.4)
  • Spleen(2.5)
  • Lymph node(2.1)
  • Adrenal gland(2)
  • Blood(2)
genes like me logo Genes that share expression patterns with SEPTIN4: view

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 32
  • 99.58 (n)
C17orf47 33
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C9H17orf47 32
  • 93.45 (n)
C17orf47 33
  • 34 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SEPT4 32
  • 92.76 (n)
C17orf47 33
  • 52 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sept4 17 32
  • 89.75 (n)
Gm11492 33
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C17orf47 33
  • 31 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEPT4 32
  • 75.55 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485625 32
  • 72.48 (n)
zebrafish
(Danio rerio)
Actinopterygii sept4b 32
  • 72.89 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4966 32
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER238C 32
  • 51.04 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC12 32
  • 50.76 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E21583g 32
  • 48.18 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03795 32
  • 56.68 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes spn4 32
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • 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 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

Paralogs for SEPTIN4 Gene

No data available for Paralogs for SEPTIN4 Gene

Variants for SEPTIN4 Gene

Sequence variations from dbSNP and Humsavar for SEPTIN4 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000139594 -- 58,520,344(-) C/A 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000191272 -- 58,537,951(-) G/A genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs1000222330 -- 58,544,766(-) C/A upstream_transcript_variant
rs1000291718 -- 58,534,283(-) T/G genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs1000412296 -- 58,533,889(-) A/G genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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

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

Disorders for SEPTIN4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SEPTIN4 Gene - From: DISEASES and Novoseek

- 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 23 56
  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 23 56
  3. 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 23 56
  4. Characterization and expression analysis of two human septin genes, PNUTL1 and PNUTL2. (PMID: 11167005) Zieger B … Ware J (Gene 2000) 3 4 23 56
  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 56

Products for SEPTIN4 Gene

Sources for SEPTIN4 Gene