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Aliases for SEPTIN2 Gene
Aliases for SEPTIN2 Gene
External Ids for SEPTIN2 Gene
- HGNC: 7729
- NCBI Entrez Gene: 4735
- Ensembl: ENSG00000168385
- OMIM®: 601506
- UniProtKB/Swiss-Prot: Q15019
Previous HGNC Symbols for SEPTIN2 Gene
- DIFF6
- NEDD5
- SEPT2
Summaries for SEPTIN2 Gene
GeneCards Summary for SEPTIN2 Gene
SEPTIN2 (Septin 2) is a Protein Coding gene. Diseases associated with SEPTIN2 include Pineal Region Meningioma and Amyotrophic Neuralgia. Among its related pathways are Organelle biogenesis and maintenance and Shigellosis. An important paralog of this gene is SEPT5-GP1BB.
UniProtKB/Swiss-Prot Summary for SEPTIN2 Gene
-
Filament-forming cytoskeletal GTPase. 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). Required for normal organization of the actin cytoskeleton. Plays a role in the biogenesis of polarized columnar-shaped epithelium by maintaining polyglutamylated microtubules, thus facilitating efficient vesicle transport, and by impeding MAP4 binding to tubulin. Required for the progression through mitosis. Forms a scaffold at the midplane of the mitotic splindle required to maintain CENPE localization at kinetochores and consequently chromosome congression. During anaphase, may be required for chromosome segregation and spindle elongation. Plays a role in ciliogenesis and collective cell movements. In cilia, required for the integrity of the diffusion barrier at the base of the primary cilium that prevents diffusion of transmembrane proteins between the cilia and plasma membranes: probably acts by regulating the assembly of the tectonic-like complex (also named B9 complex) by localizing TMEM231 protein. May play a role in the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella flexneri.
Additional gene information for SEPTIN2 Gene
- HGNC (7729)
- NCBI Entrez Gene (4735)
- Ensembl (ENSG00000168385)
- OMIM® (601506)
- UniProtKB/Swiss-Prot (Q15019)
- Open Targets Platform(ENSG00000168385)
- Alliance of Genome Resources
- Search for SEPTIN2 at DataMed
- Search for SEPTIN2 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEPTIN2 Gene
Genomics for SEPTIN2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SEPTIN2 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 SEPTIN2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEPTIN2
Genomic Locations for SEPTIN2 Gene
Latest Assembly
- chr2:241,315,100-241,354,027
- (GRCh38/hg38)
- Size:
- 38,928 bases
- Orientation:
- Plus strand
Previous Assembly
- chr2:242,254,770-242,293,442
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 38,673 bases
- Orientation:
- Plus strand
Genomic View for SEPTIN2 Gene
Genes around SEPTIN2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q37.3 by HGNC
- 2q37.3 by Entrez Gene
- 2q37.3 by Ensembl
SEPTIN2 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 SEPTIN2 Gene
Proteins for SEPTIN2 Gene
-
Protein details for SEPTIN2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q15019-SEPT2_HUMAN
- Recommended name:
- Septin-2
- Protein Accession:
- Q15019
- B4DGE8
- Q14132
- Q53QU3
- Q8IUK9
- Q96CB0
Protein attributes for SEPTIN2 Gene
- Size:
- 361 amino acids
- Molecular mass:
- 41487 Da
- Quaternary structure:
-
- Septins polymerize into heterooligomeric protein complexes that form filaments, and associate with cellular membranes, actin filaments and microtubules (PubMed:17637674, PubMed:25588830, Ref.36). GTPase activity is required for filament formation. Filaments are assembled from asymmetrical heterotrimers, composed of SEPTIN2, SEPTIN6 and SEPTIN7 that associate head-to-head to form a hexameric unit (PubMed:16093351, PubMed:16914550). Interaction between SEPTIN2 and SEPTIN7 seems indirect. Interacts with SEPTIN5 (By similarity). Interaction with SEPTIN4 not detected (By similarity). Interacts with SEPTIN9 (PubMed:19145258). 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 (PubMed:16093351, PubMed:16914550). Interacts with MAP4. Interacts with DZIP1L (PubMed:28530676).
- SequenceCaution:
-
- Sequence=AAY14718.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAA09928.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
- Miscellaneous:
-
- Coordinated expression with SEPTIN6 and SEPTIN7.
Three dimensional structures from OCA and Proteopedia for SEPTIN2 Gene
Post-translational modifications for SEPTIN2 Gene
Other Protein References for SEPTIN2 Gene
- ENSEMBL proteins:
-
- ENSP00000375834
- ENSP00000397195
- ENSP00000353157
- ENSP00000389174
- ENSP00000404484
- ENSP00000386001
- ENSP00000375832
- ENSP00000385109
- ENSP00000384525
- ENSP00000397290
- ENSP00000406181
- ENSP00000394666
- ENSP00000399767
- ENSP00000385172
- ENSP00000413031
- ENSP00000403287
- ENSP00000399195
- ENSP00000412434
- ENSP00000404417
- ENSP00000409596
- ENSP00000391717
- ENSP00000408902
- ENSP00000408296
- ENSP00000402256
- ENSP00000479861
- Q15019.218
- REFSEQ proteins:
-
- XP_016859694.1
- XP_016859701.2
- XP_016859702.1
- XP_024308688.1
- XP_024308689.1
- XP_024308690.1
- XP_024308691.1
- XP_024308692.1
- XP_024308693.1
- XP_024308694.1
- NP_001008491.1
- NP_001008492.1
- NP_001269901.1
- NP_001269902.1
- NP_001307958.1
- NP_001307959.1
- NP_001307960.1
- NP_001307961.1
- NP_001307962.1
- NP_001307963.1
- NP_001307964.1
- NP_001336216.1
- NP_001336217.1
- NP_001336218.1
- NP_001336219.1
- NP_001336220.1
- NP_001336231.1
- NP_001336233.1
- NP_001336234.1
- NP_001336235.1
- NP_001336236.1
- NP_001336237.1
- NP_001336238.1
- NP_001336239.1
- NP_001336240.1
- NP_001336241.1
- NP_001336242.1
- NP_001336243.1
- NP_001336244.1
- NP_004395.1
- NP_006146.1
Antibodies for research
- LifeSpan BioSciences SEPT2 / Septin 2 Antibody (LS-B3607) and SEPT2 / Septin 2 Antibody (LS-B14699)
- G Biosciences Immunotag™ SEPT2 Antibody
- GeneTex Anti-Septin 2 antibody [N1N3] and Anti-Septin 2 antibody
-
Custom Antibody ServicesOriGene Antibodies for SEPTIN2
- Novus Biologicals Antibodies for SEPTIN2
-
Abcam antibodies for SEPTIN2
- Invitrogen Antibodies for SEPTIN2 (AFLGC-SEPTIN2)
-
Boster Bio Antibodies for SEPTIN2
-
Custom Antibody ServicesProSci Antibodies for SEPTIN2
- Sino Biological Antibodies for SEPTIN2
Protein products for research
-
OriGene Purified Proteins for SEPTIN2
- Search Origene for MassSpec and Protein Over-expression Lysates for SEPTIN2
- Origene Custom Protein Services for SEPTIN2
- ProSpec Recombinant Proteins for SEPTIN2
-
Abcam proteins for SEPTIN2
Assay products for research
No data available for DME Specific Peptides for SEPTIN2 Gene
Domains & Families for SEPTIN2 Gene
Gene Families for SEPTIN2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for SEPTIN2 Gene
- InterPro:
- Blocks:
-
- Cell division/GTP binding protein
- Septin 2 signature
Graphical View of Domain Structure for InterPro Entry
Q15019UniProtKB/Swiss-Prot:
SEPT2_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 SEPTIN2 Gene
Function for SEPTIN2 Gene
Molecular function for SEPTIN2 Gene
- UniProtKB/Swiss-Prot Function:
- Filament-forming cytoskeletal GTPase. 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). Required for normal organization of the actin cytoskeleton. Plays a role in the biogenesis of polarized columnar-shaped epithelium by maintaining polyglutamylated microtubules, thus facilitating efficient vesicle transport, and by impeding MAP4 binding to tubulin. Required for the progression through mitosis. Forms a scaffold at the midplane of the mitotic splindle required to maintain CENPE localization at kinetochores and consequently chromosome congression. During anaphase, may be required for chromosome segregation and spindle elongation. Plays a role in ciliogenesis and collective cell movements. In cilia, required for the integrity of the diffusion barrier at the base of the primary cilium that prevents diffusion of transmembrane proteins between the cilia and plasma membranes: probably acts by regulating the assembly of the tectonic-like complex (also named B9 complex) by localizing TMEM231 protein. May play a role in the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella flexneri.
Phenotypes From GWAS Catalog for SEPTIN2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0003924 | GTPase activity | IBA | 21873635 |
| GO:0005515 | protein binding | IPI | 10321247 |
| GO:0005525 | GTP binding | IEA | -- |
| GO:0042802 | identical protein binding | IPI | -- |
Phenotypes for SEPTIN2 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 SEPTIN2 - Starting at $85 >
- * SEPTIN2 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.
-
OriGene CRISPR knockouts for SEPTIN2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SEPTIN2
miRNA for SEPTIN2 Gene
- miRTarBase miRNAs that target SEPTIN2
-
- hsa-miR-373-3p (MIRT004515)
- mmu-miR-340-5p (MIRT010705)
- mmu-miR-26a-5p (MIRT011427)
- hsa-miR-124-3p (MIRT022377)
- hsa-miR-877-3p (MIRT036930)
- hsa-miR-744-5p (MIRT037693)
- hsa-miR-421 (MIRT039399)
- hsa-miR-652-3p (MIRT039504)
- hsa-miR-615-3p (MIRT040241)
- hsa-miR-15b-5p (MIRT046451)
- hsa-miR-106a-5p (MIRT048333)
- hsa-miR-23a-3p (MIRT050437)
- hsa-miR-20a-5p (MIRT050517)
- hsa-miR-17-5p (MIRT050919)
- hsa-miR-7-5p (MIRT088063)
- hsa-miR-181a-5p (MIRT088064)
- hsa-miR-181b-5p (MIRT088065)
- hsa-miR-181c-5p (MIRT088066)
- hsa-miR-140-5p (MIRT088067)
- hsa-miR-181d-5p (MIRT088068)
- hsa-miR-641 (MIRT088069)
- hsa-miR-3162-5p (MIRT088070)
- hsa-miR-4262 (MIRT088071)
- hsa-miR-3617-5p (MIRT088072)
- hsa-miR-4460 (MIRT088073)
- hsa-miR-203b-5p (MIRT088074)
- hsa-miR-4727-3p (MIRT088075)
- hsa-miR-6718-5p (MIRT088076)
- hsa-miR-6760-5p (MIRT088077)
- hsa-miR-6878-5p (MIRT088078)
- hsa-miR-223-3p (MIRT088093)
- hsa-miR-504-3p (MIRT088094)
- hsa-miR-4433a-3p (MIRT088097)
- hsa-miR-4459 (MIRT088098)
- hsa-miR-4768-3p (MIRT088100)
- hsa-miR-4433b-3p (MIRT088101)
- hsa-miR-15a-5p (MIRT088102)
- hsa-miR-16-5p (MIRT088103)
- hsa-miR-195-5p (MIRT088106)
- hsa-miR-3163 (MIRT088125)
- hsa-miR-93-5p (MIRT088128)
- hsa-miR-143-5p (MIRT088129)
- hsa-miR-106b-5p (MIRT088130)
- hsa-miR-20b-5p (MIRT088131)
- hsa-miR-519c-3p (MIRT088132)
- hsa-miR-526b-3p (MIRT088133)
- hsa-miR-519b-3p (MIRT088134)
- hsa-miR-519d-3p (MIRT088135)
- hsa-miR-519a-3p (MIRT088136)
- hsa-miR-4464 (MIRT088139)
- hsa-miR-4748 (MIRT088142)
- hsa-miR-21-5p (MIRT158719)
- hsa-miR-8063 (MIRT205973)
- hsa-miR-4427 (MIRT301797)
- hsa-miR-4680-3p (MIRT505737)
- hsa-miR-5187-3p (MIRT505738)
- hsa-miR-4704-5p (MIRT505739)
- hsa-miR-4796-3p (MIRT505740)
- hsa-miR-548ah-5p (MIRT505741)
- hsa-miR-3609 (MIRT505742)
- hsa-miR-3143 (MIRT510800)
- hsa-miR-4756-5p (MIRT510801)
- hsa-miR-4739 (MIRT510802)
- hsa-miR-1321 (MIRT510803)
- hsa-miR-543 (MIRT510804)
- hsa-miR-6847-3p (MIRT534388)
- hsa-miR-548c-3p (MIRT534389)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna and sirna products in human, mouse, rat for SEPTIN2
- Browse OriGene Inhibitory RNA Products For SEPTIN2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPTIN2
Clone products for research
- Applied Biological Materials (abm): Clones for SEPTIN2 - Starting at $45 >
- * SEPTIN2 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.
-
- MG225542
- MG225543
- MG225545
- MG225547
- MR225542
- MR225542L3
- MR225542L4
- MR225543
- MR225543L3
- MR225543L4
- MR225545
- MR225545L3
- MR225545L4
- MR225547
- MR225547L3
- MR225547L4
- RC204867
- RC204867L1
- RC204867L2
- RC204867L3
- RC204867L4
- RC211473
- RC211473L3
- RC211473L4
- RC211650
- RC211650L3
- RC211650L4
- RC224864
- RC224864L1
- RC224864L2
- RC224864L3
- RC224864L4
- RC237793
- RC237957
- RG204867
- RG211473
- RG211650
- RG224864
- RR201625
- RR201625L3
- RR201625L4
- MR225542L3V
- MR225542L4V
- MR225543L3V
- MR225543L4V
- MR225545L3V
- MR225545L4V
- MR225547L3V
- MR225547L4V
- RC204867L1V
- RC204867L2V
- RC204867L3V
- RC204867L4V
- RC211473L3V
- RC211473L4V
- RC211650L3V
- RC211650L4V
- RC224864L1V
- RC224864L2V
- RC224864L3V
- RC224864L4V
- RR201625L3V
- RR201625L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SEPTIN2
- Addgene plasmids for SEPTIN2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SEPTIN2
Cell Lines for research
-
Horizon Cell Lines for SEPTIN2
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SEPTIN2 Gene
Localization for SEPTIN2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SEPTIN2 Gene
- Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, spindle. Chromosome, centromere, kinetochore. Cleavage furrow. Midbody. Cytoplasm, cell cortex. Cell projection, cilium membrane. Cell projection, cilium, flagellum. Note=In metaphase cells, localized within the microtubule spindle. At the metaphase plate, in close apposition to the kinetochores of the congressed chromosomes. In cells undergoing cytokinesis, localized to the midbody, the ingressing cleavage furrow, and the central spindle. During bacterial infection, displays a collar shape structure next to actin at the pole of invading bacteria. In epithelial cells, colocalizes with polyglutamylated tubulin around the trans-Golgi network, as well as juxatnuclear and proximal Golgi apparatus. Localizes at the base of the cilia near the morphological distinction between the cilia and plasma membranes. Found in the sperm annulus (PubMed:25588830). {ECO:0000269 PubMed:25588830}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 5 |
| plasma membrane | 4 |
| extracellular | 4 |
| cytosol | 4 |
| mitochondrion | 2 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
- Actin filaments (4)
- Cytokinetic bridge (3)
- Nucleoplasm (2)
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000145 | exocyst | IEA | -- |
| GO:0000775 | chromosome, centromeric region | IEA | -- |
| GO:0000776 | kinetochore | IEA | -- |
| GO:0000777 | condensed chromosome kinetochore | IEA | -- |
| GO:0005634 | nucleus | IDA | 10942595 |
Pathways & Interactions for SEPTIN2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Organelle biogenesis and maintenance |
.56
|
|
| 2 | Bacterial invasion of epithelial cells | ||
| 3 | Shigellosis | ||
| 4 | ERK Signaling |
Rho Family GTPases
.61
|
|
| 5 | Actin Nucleation by ARP-WASP Complex |
RhoA Pathway
.35
|
|
Pathways by source for SEPTIN2 Gene
1 BioSystems pathway for SEPTIN2 Gene
3 Reactome pathways for SEPTIN2 Gene
2 KEGG pathways for SEPTIN2 Gene
2 Qiagen pathways for SEPTIN2 Gene
- Rho Family GTPases
- RhoA Pathway
Interacting Proteins for SEPTIN2 Gene
Selected Interacting proteins:
Q15019-SEPT2_HUMAN
ENSP00000479861
for SEPTIN2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for SEPTIN2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007049 | cell cycle | IEA | -- |
| GO:0007224 | smoothened signaling pathway | ISS | -- |
| GO:0007283 | spermatogenesis | IEA | -- |
| GO:0017157 | regulation of exocytosis | IBA | 21873635 |
| GO:0030154 | cell differentiation | IEA | -- |
Transcripts for SEPTIN2 Gene
mRNA/cDNA for SEPTIN2 Gene
- 31 REFSEQ mRNAs :
- 23 NCBI additional mRNA sequence :
- 45 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000360051 3613 nts (view in UCSC)
- ENST00000366210 672 nts (view in UCSC)
- ENST00000391971 3251 nts (view in UCSC)
- ENST00000391973 3701 nts (view in UCSC)
- ENST00000401990 1734 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SEPTIN2 - Starting at $85 >
- * SEPTIN2 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.
-
OriGene CRISPR knockouts for SEPTIN2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SEPTIN2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna and sirna products in human, mouse, rat for SEPTIN2
- Browse OriGene Inhibitory RNA Products For SEPTIN2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPTIN2
Clone products for research
- Applied Biological Materials (abm): Clones for SEPTIN2 - Starting at $45 >
- * SEPTIN2 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.
-
- MG225542
- MG225543
- MG225545
- MG225547
- MR225542
- MR225542L3
- MR225542L4
- MR225543
- MR225543L3
- MR225543L4
- MR225545
- MR225545L3
- MR225545L4
- MR225547
- MR225547L3
- MR225547L4
- RC204867
- RC204867L1
- RC204867L2
- RC204867L3
- RC204867L4
- RC211473
- RC211473L3
- RC211473L4
- RC211650
- RC211650L3
- RC211650L4
- RC224864
- RC224864L1
- RC224864L2
- RC224864L3
- RC224864L4
- RC237793
- RC237957
- RG204867
- RG211473
- RG211650
- RG224864
- RR201625
- RR201625L3
- RR201625L4
- MR225542L3V
- MR225542L4V
- MR225543L3V
- MR225543L4V
- MR225545L3V
- MR225545L4V
- MR225547L3V
- MR225547L4V
- RC204867L1V
- RC204867L2V
- RC204867L3V
- RC204867L4V
- RC211473L3V
- RC211473L4V
- RC211650L3V
- RC211650L4V
- RC224864L1V
- RC224864L2V
- RC224864L3V
- RC224864L4V
- RR201625L3V
- RR201625L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SEPTIN2
- Addgene plasmids for SEPTIN2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SEPTIN2
Relevant External Links for SEPTIN2 Gene
- GeneLoc Exon Structure for
- SEPTIN2
Expression for SEPTIN2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEPTIN2
SOURCE GeneReport for Unigene cluster for SEPTIN2 Gene:
Hs.721234mRNA Expression by UniProt/SwissProt for SEPTIN2 Gene:
Q15019-SEPT2_HUMAN
Tissue specificity:
Widely expressed. Up-regulated in liver cancer.
Evidence on tissue expression from TISSUES for SEPTIN2 Gene
- Nervous system(5)
- Liver(4.6)
- Muscle(4.5)
- Blood(4.4)
- Bone marrow(4.4)
- Lung(4.2)
- Skin(3.9)
- Intestine(3.6)
- Kidney(3.6)
- Eye(3.3)
- Pancreas(3.2)
- Heart(2.8)
- Adrenal gland(2.4)
- Stomach(2.3)
- Lymph node(2.3)
- Bone(2.3)
- Spleen(2.2)
- Thyroid gland(2.2)
- Gall bladder(2.1)
Primer products for research
-
OriGene qPCR primer pairs for SEPTIN2
-
OriGene qPCR primer pairs and template standards for SEPTIN2
No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 SEPTIN2 Gene
Orthologs for SEPTIN2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SEPT2 29 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SEPT2 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SEPT2 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Sept2 29 30 |
|
OneToOne | |
| Septin2 16 |
|
||||
| Rat (Rattus norvegicus) |
Mammalia | Sept2 29 |
|
||
| Cow (Bos Taurus) |
Mammalia | SEPT2 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SEPT2 29 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SEPT2 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SEPT2 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sept2 29 |
|
||
| Str.10233 29 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | XlSeptA 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | sept2 29 30 |
|
OneToOne | |
| wufb52g01 29 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5618 29 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002645 29 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Sep1 29 30 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7975 30 |
|
OneToOne |
- Species where no ortholog for SEPTIN2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- 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 SEPTIN2 Gene
- ENSEMBL:
- Gene Tree for SEPTIN2 (if available)
- TreeFam:
- Gene Tree for SEPTIN2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SEPTIN2: view image
- Alliance of Genome Resources:
- Additional Orthologs for SEPTIN2
Paralogs for SEPTIN2 Gene
Variants for SEPTIN2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEPTIN2 Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs34185831 | Benign: not provided | 241,337,694(+) |
G/A NM_004404.5(SEPTIN2):c.498G>A (p.Ala166=) |
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv2195n106 | CNV | deletion | 24896259 |
| esv2307098 | CNV | deletion | 18987734 |
| esv2445970 | CNV | deletion | 19546169 |
| esv2721993 | CNV | deletion | 23290073 |
| esv2721994 | CNV | deletion | 23290073 |
| esv3594825 | CNV | gain | 21293372 |
| esv3594826 | CNV | gain | 21293372 |
| esv3594827 | CNV | gain | 21293372 |
| esv3594828 | CNV | gain | 21293372 |
| esv3816 | CNV | loss | 18987735 |
Residual Variation Intolerance Score:
24.5% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SEPTIN2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEPTIN2 Gene
Disorders for SEPTIN2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pineal region meningioma |
|
|
| amyotrophic neuralgia |
|
|
| brachial plexus neuropathy |
|
|
| polycystic kidney disease |
|
|
| joubert syndrome 1 |
|
|
Search SEPTIN2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SEPTIN2
- 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 SEPTIN2 Gene
Publications for SEPTIN2 Gene
- The phosphorylation of SEPT2 on Ser218 by casein kinase 2 is important to hepatoma carcinoma cell proliferation. (PMID: 19165576) Yu W … Yu L (Molecular and cellular biochemistry 2009) 3 4 22
- Structural analysis of septin 2, 6, and 7 complexes. (PMID: 16914550) Low C … Macara IG (The Journal of biological chemistry 2006) 3 4 22
- Septin 2 phosphorylation: theoretical and mass spectrometric evidence for the existence of a single phosphorylation site in vivo. (PMID: 15150837) She YM … Trimble WS (Rapid communications in mass spectrometry : RCM 2004) 3 4 22
- Isolation and mapping of a human gene (DIFF6) homologous to yeast CDC3, CDC10, CDC11, and CDC12, and mouse Diff6. (PMID: 8697812) Mori T … Nakamura Y (Cytogenetics and cell genetics 1996) 2 3 4
- Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. (PMID: 28530676) Lu H … Bergmann C (Nature genetics 2017) 3 4
ExternalLinks
Products for SEPTIN2 Gene
- Custom Antibody ServicesOriGene Antibodies for SEPTIN2
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- Custom Assay Services
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- OriGene qPCR primer pairs for SEPTIN2
- OriGene qPCR primer pairs and template standards for SEPTIN2
- OriGene CRISPR knockouts for SEPTIN2
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- RR201625L3V
- RR201625L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- Sino Biological Antibodies for SEPTIN2
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- High-throughput Antibody Production Service
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- Abcam antibodies for SEPTIN2
- Abcam proteins for SEPTIN2
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- Browse Primary Antibodies
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- VectorBuilder Custom and pre-made DNA vectors for SEPTIN2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SEPTIN2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SEPTIN2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SEPTIN2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for SEPTIN2
- Addgene plasmids for SEPTIN2
- antibodies-online: Show 52 available SEPT2 Antibodies ranked by validation data
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- antibodies-online: Search results for available SEPT2 related products ranked by validation data
- antibodies-online: Show 14 available SEPT2 Proteins ranked by validation data
- Compare Top SEPT2 Proteins
- Custom Antibody ServicesProSci Antibodies for SEPTIN2
- Search for SEPTIN2 Proteins at ProSci
- Horizon Cell Lines for SEPTIN2
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SEPTIN2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SEPTIN2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SEPTIN2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPTIN2
Sources for SEPTIN2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources