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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
External Ids for SEPTIN4 Gene
- HGNC: 9165
- NCBI Entrez Gene: 5414
- Ensembl: ENSG00000108387
- OMIM®: 603696
- UniProtKB/Swiss-Prot: O43236
Previous HGNC Symbols for SEPTIN4 Gene
- PNUTL2
- C17orf47
- SEPT4
Summaries 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.
Additional gene information for SEPTIN4 Gene
- HGNC (9165)
- NCBI Entrez Gene (5414)
- Ensembl (ENSG00000108387)
- OMIM® (603696)
- UniProtKB/Swiss-Prot (O43236)
- Open Targets Platform(ENSG00000108387)
- Alliance of Genome Resources
- Search for SEPTIN4 at DataMed
- Search for SEPTIN4 at HumanCyc
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
Genomic View for SEPTIN4 Gene
Genes around SEPTIN4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q22 by HGNC
- 17q22 by Entrez Gene
- 17q22 by Ensembl
SEPTIN4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Post-translational modifications for SEPTIN4 Gene
Other Protein References for SEPTIN4 Gene
- ENSEMBL proteins:
-
- ENSP00000463768
- ENSP00000500383
- ENSP00000402348
- ENSP00000464373
- ENSP00000321674
- ENSP00000402000
- ENSP00000500355
- ENSP00000462727
- ENSP00000321071
- ENSP00000414779
- ENSP00000464382
- ENSP00000463671
- ENSP00000462278
- ENSP00000462362
- ENSP00000463461
- ENSP00000500629
- ENSP00000464360
- ENSP00000354874
- ENSP00000376801
- O43236.183
- Q8NEP4.110
- REFSEQ proteins:
-
- XP_006722012.1
- XP_006722013.1
- XP_006722015.1
- XP_006722017.1
- XP_006722018.1
- XP_011522939.1
- XP_011523213.1
- XP_011523214.1
- XP_016879987.1
- XP_024306575.1
- XP_024306576.1
- NP_001033793.3
- NP_001185642.1
- NP_001243711.1
- NP_001243751.1
- NP_001350732.1
- NP_001355700.1
- NP_001355701.1
- NP_004565.1
- NP_536340.1
- NP_536341.1
Antibodies for research
- LifeSpan BioSciences SEPT4 / Septin 4 Antibody (LS-B549) and SEPT4 / Septin 4 Antibody (LS-B8346)
-
Custom Antibody ServicesOriGene Antibodies for SEPTIN4
- Novus Biologicals Antibodies for SEPTIN4
- Invitrogen Antibodies for SEPTIN4 (AFLGC-SEPTIN4, AFLGC-C17orf47)
-
Custom Antibody ServicesProSci Antibodies for SEPTIN4
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for SEPTIN4
- Origene Custom Protein Services for SEPTIN4
- antibodies-online: Show 6 available SEPT4 Proteins ranked by validation data
- Compare Top SEPT4 Proteins
-
Quality Products:
Assay products for research
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
O43236UniProtKB/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.
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
| 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 |
Phenotypes for SEPTIN4 Gene
- MGI mutant phenotypes for SEPTIN4:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for SEPTIN4:
-
- Increased vaccinia virus (VACV) infection
- Increased G1 DNA content
- Decreased viability
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Decreased hepcidin::fluc mRNA expression
- Decreased West Nile virus (WNV) infection
- Decreased infection with West Nile virus (WNV)
- Strongly decreased NFAT1-GFP nuclear translocation
- Decreased Dengue Infection
Animal Models for SEPTIN4 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SEPTIN4 - Starting at $85 >
- * SEPTIN4 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SEPTIN4
miRNA for SEPTIN4 Gene
- miRTarBase miRNAs that target SEPTIN4
-
- mmu-miR-301b-3p (MIRT008003)
- mmu-miR-541-5p (MIRT008349)
- hsa-miR-335-5p (MIRT017716)
- hsa-let-7b-5p (MIRT032353)
- hsa-miR-6805-3p (MIRT709096)
- hsa-miR-5691 (MIRT709097)
- hsa-miR-5706 (MIRT709098)
- hsa-miR-4782-5p (MIRT709099)
- hsa-miR-3194-3p (MIRT709100)
- hsa-miR-6839-5p (MIRT709101)
- hsa-miR-3621 (MIRT709102)
- hsa-miR-378j (MIRT709103)
- hsa-miR-518c-5p (MIRT709104)
- hsa-miR-3937 (MIRT709105)
- hsa-miR-4733-3p (MIRT709106)
- hsa-miR-1911-3p (MIRT709107)
- hsa-miR-1-5p (MIRT737969)
- hsa-miR-221-5p (MIRT739078)
- hsa-miR-2355-3p (MIRT739149)
- hsa-miR-3663-5p (MIRT742013)
- hsa-miR-4646-3p (MIRT746426)
- hsa-miR-676-3p (MIRT755039)
- hsa-miR-6815-3p (MIRT756769)
- hsa-miR-7152-3p (MIRT759193)
- hsa-miR-8073 (MIRT760126)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SEPTIN4
- Browse OriGene Inhibitory RNA Products For SEPTIN4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPTIN4
Clone products for research
- Applied Biological Materials (abm): Clones for SEPTIN4 - Starting at $45 >
- * SEPTIN4 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG206877
- MG227466
- MR206877
- MR206877L3
- MR206877L4
- MR227466
- MR227466L3
- MR227466L4
- MR229182
- MR229592
- MR229873
- RC205339
- RC205339L1
- RC205339L2
- RC205339L3
- RC205339L4
- RC206213
- RC206213L3
- RC206213L4
- RC213106
- RC213106L1
- RC213106L2
- RC213106L3
- RC213106L4
- RC215054
- RC215054L1
- RC215054L2
- RC215054L3
- RC215054L4
- RC231257
- RC231257L3
- RC231257L4
- RC232498
- RC234278
- RG205339
- RG206213
- RG213106
- RG215054
- RG231257
- RG232498
- RG234278
- RR211983
- RR211983L3
- RR211983L4
- MR206877L3V
- MR206877L4V
- MR227466L3V
- MR227466L4V
- RC205339L1V
- RC205339L2V
- RC205339L3V
- RC205339L4V
- RC206213L3V
- RC206213L4V
- RC213106L1V
- RC213106L2V
- RC213106L3V
- RC213106L4V
- RC215054L1V
- RC215054L2V
- RC215054L3V
- RC215054L4V
- RC231257L3V
- RC231257L4V
- RR211983L3V
- RR211983L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SEPTIN4
- Sino Biological Human cDNA Clone for SEPTIN4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SEPTIN4
Cell Lines for research
-
Horizon Cell Lines for SEPTIN4
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.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| mitochondrion | 5 |
| nucleus | 5 |
| cytosol | 4 |
- Nucleoplasm (3)
| 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 | -- |
Pathways & Interactions for SEPTIN4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Apoptosis Modulation and Signaling |
.31
|
|
| 2 | Nanomaterial induced apoptosis | ||
| 3 | ERK Signaling |
Rho Family GTPases
.61
|
|
| 4 | Actin Nucleation by ARP-WASP Complex |
RhoA Pathway
.35
|
|
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
Selected Interacting proteins:
O43236-SEPT4_HUMAN
ENSP00000402000
ENSP00000354874
for SEPTIN4 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for SEPTIN4
| 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 | -- |
No data available for SIGNOR curated interactions for SEPTIN4 Gene
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 :
-
- ENST00000317256 1530 nts (view in UCSC)
- ENST00000317268 1784 nts (view in UCSC)
- ENST00000321691 2123 nts (view in UCSC)
- ENST00000393086 1556 nts (view in UCSC)
- ENST00000412945 1597 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SEPTIN4 - Starting at $85 >
- * SEPTIN4 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SEPTIN4
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SEPTIN4
- Browse OriGene Inhibitory RNA Products For SEPTIN4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPTIN4
Clone products for research
- Applied Biological Materials (abm): Clones for SEPTIN4 - Starting at $45 >
- * SEPTIN4 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG206877
- MG227466
- MR206877
- MR206877L3
- MR206877L4
- MR227466
- MR227466L3
- MR227466L4
- MR229182
- MR229592
- MR229873
- RC205339
- RC205339L1
- RC205339L2
- RC205339L3
- RC205339L4
- RC206213
- RC206213L3
- RC206213L4
- RC213106
- RC213106L1
- RC213106L2
- RC213106L3
- RC213106L4
- RC215054
- RC215054L1
- RC215054L2
- RC215054L3
- RC215054L4
- RC231257
- RC231257L3
- RC231257L4
- RC232498
- RC234278
- RG205339
- RG206213
- RG213106
- RG215054
- RG231257
- RG232498
- RG234278
- RR211983
- RR211983L3
- RR211983L4
- MR206877L3V
- MR206877L4V
- MR227466L3V
- MR227466L4V
- RC205339L1V
- RC205339L2V
- RC205339L3V
- RC205339L4V
- RC206213L3V
- RC206213L4V
- RC213106L1V
- RC213106L2V
- RC213106L3V
- RC213106L4V
- RC215054L1V
- RC215054L2V
- RC215054L3V
- RC215054L4V
- RC231257L3V
- RC231257L4V
- RR211983L3V
- RR211983L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SEPTIN4
- Sino Biological Human cDNA Clone for SEPTIN4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SEPTIN4
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
-
Kidney (Urinary System)
- Ureteric Bud Cells Ureteric Bud
- Ureteric Bud Tip Cells Ureteric Bud
- Ureteric Bud
- Brain (Nervous System)
-
Eye (Sensory Organs)
- Mature Horizontal Cells Inner Nuclear Layer
-
Neurons
- Mature Horizontal Cells Inner Nuclear Layer
-
Blood (Hematopoietic System)
- Natural Killer Cells Peripheral Blood
- Germ Cells (Reproductive System)
- Gonad
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEPTIN4
SOURCE GeneReport for Unigene cluster for SEPTIN4 Gene:
Hs.287518mRNA 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)
Primer products for research
-
OriGene qPCR primer pairs for SEPTIN4
-
OriGene qPCR primer pairs and template standards for SEPTIN4
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SEPT4 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | C9H17orf47 29 |
|
||
| Cow (Bos Taurus) |
Mammalia | SEPT4 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Sept4 29 30 |
|
OneToOne | |
| Septin4 16 |
|
||||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SEPT4 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SEPT4 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SEPT4 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SEPT4 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100485625 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | sept4b 29 |
|
||
| sept4a 30 |
|
OneToOne | |||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4966 29 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Sep4 30 |
|
OneToMany | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AER238C 29 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CDC12 29 32 32 |
|
||
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E21583g 29 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU03795 29 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | spn4 29 |
|
- 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 |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3640886 | CNV | loss | 21293372 |
| esv3640887 | CNV | loss | 21293372 |
| esv3640887 | CNV | loss | 21293372 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEPTIN4 Gene
Disorders for SEPTIN4 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pigmented basal cell carcinoma |
|
|
| amyotrophic neuralgia |
|
|
| cardiomyopathy, familial hypertrophic, 9 |
|
|
| brachial plexus neuropathy |
|
|
| retinitis pigmentosa 19 |
|
|
Search SEPTIN4 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SEPTIN4
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for SEPTIN4 Gene
Publications for SEPTIN4 Gene
- 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
- 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
- Characterization and expression analysis of two human septin genes, PNUTL1 and PNUTL2. (PMID: 11167005) Zieger B … Ware J (Gene 2000) 3 4 22
- 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
- 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
ExternalLinks
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- antibodies-online: Show 16 available SEPT4 Antibodies ranked by validation data
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