Free for academic non-profit institutions. Other users need a Commercial license

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
  • BRADEION 3
  • Septin-4 3
  • Bradeoin 2
  • 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 Apoptosis Modulation and Signaling and Actin Nucleation by ARP-WASP Complex. Gene Ontology (GO) annotations related to this gene include GTP binding and structural molecule activity. An important paralog of this gene is SEPT5-GP1BB.

UniProtKB/Swiss-Prot for SEPT4 Gene

  • Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). Forms a filamentous structure with SEPT12, SEPT6, SEPT2 and probably SEPT4 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 SEPT4 Gene

Additional gene information for SEPT4 Gene

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

Genomics for SEPT4 Gene

GeneHancer (GH) Regulatory Elements for SEPT4 Gene

Promoters and enhancers for SEPT4 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
GH17J058531 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.4 +6.3 6269 5.9 PKNOX1 FOXA2 SIN3A ETS1 YY1 GLIS2 FOS SP3 RXRA REST SEPT4 TRIM37 RNF43 GC17M058529 SEPT4-AS1
GH17J058529 Promoter/Enhancer 0.8 EPDnew dbSUPER 650.4 +11.5 11482 0.1 NR2F2 SEPT4 GC17M058529 SEPT4-AS1
GH17J058538 Enhancer 0.7 ENCODE dbSUPER 650.7 +1.3 1273 2.7 MITF MEF2D PKNOX1 USF1 NR2F2 SEPT4 RNF43 RAD51C TRIM37 C17orf47 GC17M058529 SEPT4-AS1
GH17J058541 Enhancer 0.6 ENCODE dbSUPER 650.7 -0.6 -637 0.2 CTCF ZNF444 RAD21 SEPT4 C17orf47 SEPT4-AS1
GH17J058511 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.1 +24.6 24602 8.9 ZFP64 YBX1 DMAP1 YY1 E2F8 ZNF143 SP3 NFYC SSRP1 ZNF610 MTMR4 TRIM37 RAD51C SRSF1 MKS1 HSF5 VEZF1 SEPT4 C17orf47 SMG8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEPT4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SEPT4 gene promoter:
  • Lmo2
  • CHOP-10
  • C/EBPalpha
  • NF-1/L
  • NF-1
  • Elk-1

Genomic Locations for SEPT4 Gene

Genomic Locations for SEPT4 Gene
chr17:58,520,250-58,540,818
(GRCh38/hg38)
Size:
20,569 bases
Orientation:
Minus strand
chr17:56,597,611-56,618,179
(GRCh37/hg19)
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. Component of a septin core octomeric complex consisting of SEPT12, SEPT7, SEPT6 and SEPT2 or SEPT4 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 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

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

Protein Domains for SEPT4 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 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). Forms a filamentous structure with SEPT12, SEPT6, SEPT2 and probably SEPT4 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 SEPT4 Gene

Gene Ontology (GO) - Molecular Function for SEPT4 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 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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPT4

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. 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 SEPT4 gene
Compartment Confidence
cytoskeleton 5
mitochondrion 5
nucleus 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)

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:0000281 mitotic cytokinesis IBA --
GO:0000921 septin ring assembly IBA --
GO:0006915 apoptotic process NAS 11146656
GO:0007049 cell cycle IEA --
GO:0007283 spermatogenesis 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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPT4

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 CGAP 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, 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.

Evidence on tissue expression from TISSUES for SEPT4 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 SEPT4: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.58 (n)
OneToOne
dog
(Canis familiaris)
Mammalia C9H17orf47 33
  • 93.45 (n)
cow
(Bos Taurus)
Mammalia SEPT4 34 33
  • 92.76 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sept4 16 34 33
  • 89.75 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SEPT4 34
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SEPT4 34
  • 38 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEPT4 34 33
  • 75.55 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SEPT4 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485625 33
  • 72.48 (n)
zebrafish
(Danio rerio)
Actinopterygii sept4b 33
  • 72.89 (n)
sept4a 34
  • 65 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4966 33
fruit fly
(Drosophila melanogaster)
Insecta Sep4 34
  • 51 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER238C 33
  • 51.04 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC12 36 33
  • 50.76 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E21583g 33
  • 48.18 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03795 33
  • 56.68 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes spn4 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SEPT4: view image

Paralogs for SEPT4 Gene

Paralogs for SEPT4 Gene

(17) SIMAP similar genes for SEPT4 Gene using alignment to 12 proteins:

  • SEPT4_HUMAN
  • B3KR63_HUMAN
  • D3DTZ7_HUMAN
  • J3KS26_HUMAN
  • J3KS85_HUMAN
  • J3KSZ7_HUMAN
  • J3QLA8_HUMAN
  • J3QLR2_HUMAN
  • J3QRS4_HUMAN
  • J3QRT6_HUMAN
  • J3QRU3_HUMAN
  • L8EAN1_HUMAN
genes like me logo Genes that share paralogs with SEPT4: view

Variants for SEPT4 Gene

Sequence variations from dbSNP and Humsavar for SEPT4 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000139594 -- 58,520,344(-) C/A 3_prime_UTR_variant, non_coding_transcript_variant
rs1000191272 -- 58,537,951(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000291718 -- 58,534,283(-) T/G genic_upstream_transcript_variant, intron_variant
rs1000412296 -- 58,533,889(-) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000495418 -- 58,540,829(-) A/G upstream_transcript_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)

Additional Variant Information for SEPT4 Gene

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

SNP Genotyping and Copy Number Assay Products

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

- elite association - COSMIC cancer census association via MalaCards
Search SEPT4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SEPT4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 58
  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 22 58
  4. Characterization and expression analysis of two human septin genes, PNUTL1 and PNUTL2. (PMID: 11167005) Zieger B … Ware J (Gene 2000) 3 4 22 58
  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 58

Products for SEPT4 Gene

Sources for SEPT4 Gene

Content
Loading form....