Septin2 septin 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Septin2provided by MGI
Official Full Name: septin 2provided by MGI
Primary source: MGI:MGI:97298
See related: Ensembl:ENSMUSG00000026276 Ensembl:ENSMUSG00000116048 AllianceGenome:MGI:97298
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Nedd5; Sept2; Nedd-5; mKIAA0158
Summary: Enables enzyme regulator activity and molecular adaptor activity. Involved in cilium assembly and smoothened signaling pathway. Acts upstream of or within regulation of L-glutamate import across plasma membrane and regulation of protein localization. Located in several cellular components, including cell surface; ciliary membrane; and ciliary transition zone. Part of septin complex. Is expressed in several structures, including 1st branchial arch; brain; embryo mesenchyme; and limb. Orthologous to human SEPTIN2 (septin 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in placenta adult (RPKM 64.8), bladder adult (RPKM 49.3) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 D; 1 47.24 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (93406238..93437455)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (93478981..93509733)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Lysyl hydroxylase LH1 promotes confined migration and metastasis of cancer cells by stabilizing Septin2 to enhance actin network.
Title: Lysyl hydroxylase LH1 promotes confined migration and metastasis of cancer cells by stabilizing Septin2 to enhance actin network.
septins regulate fluid-phase cargo traffic to lysosomes by promoting macropinosome maturation and fusion with endosomes/lysosomes.
Title: Septins promote macropinosome maturation and traffic to the lysosome by facilitating membrane fusion.
The results showed that SEPT2 has an oncogenic function through accelerated cell proliferation and invasion in biliary tract cancers, and is negatively regulated by miR-140-5p.
Title: Septin 2 accelerates the progression of biliary tract cancer and is negatively regulated by mir-140-5p.
Results indicate a stimulatory role of septin-2 and the dynamic reorganization of septin oligomers in exocytosis.
Title: Septin dynamics are essential for exocytosis.
Septin2 regulates homologous chromosome congression and governs meiotic progression and not required for cytokinesis of the first polar body extrusion
Title: Septin2 is modified by SUMOylation and required for chromosome congression in mouse oocytes.
findings show SEPT2 is part of a diffusion barrier at the base of the ciliary membrane and is essential for retaining receptor-signaling pathways in the primary cilium
Title: A septin diffusion barrier at the base of the primary cilium maintains ciliary membrane protein distribution.
Further analysis based on antibody staining of central and peripheral nerves revealed beta-adducin, septin 2, and sh3p8 as putative paranodal proteins.
Title: Proteomic analysis of optic nerve lipid rafts reveals new paranodal proteins.
Significant level of SEPT2 expression was found in heart in a developmentally regulated fashion.
Title: Probing the role of septins in cardiomyocytes.
p85 is thus involved in the spatial control of cytosolic division through regulation of Cdc42 and septin 2, in a PI3K-activity independent manner.
Title: A PI3K activity-independent function of p85 regulatory subunit in control of mammalian cytokinesis.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW208991 (e-PCR)
- UniSTS:178443

Sept2 (e-PCR), detects polymorphism
- UniSTS:474759

RH124897 (e-PCR)
- UniSTS:161719

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	NAS Non-traceable Author Statement more info	PubMed
enables enzyme regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	TAS Traceable Author Statement more info	PubMed
enables molecular adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables molecular adaptor activity	TAS Traceable Author Statement more info	PubMed
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell cycle	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell division	IEA Inferred from Electronic Annotation more info
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytoskeleton-dependent cytokinesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytoskeleton-dependent cytokinesis	NAS Non-traceable Author Statement more info	PubMed
involved_in neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in protein localization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein polymerization	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within regulation of L-glutamate import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of exocytosis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of protein localization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in actin cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in actin cytoskeleton	TAS Traceable Author Statement more info	PubMed
located_in actomyosin contractile ring	NAS Non-traceable Author Statement more info	PubMed
located_in axoneme	ISO Inferred from Sequence Orthology more info
located_in cell cortex	TAS Traceable Author Statement more info	PubMed
is_active_in cell division site	IBA Inferred from Biological aspect of Ancestor more info
located_in cell projection	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in chromosome, centromeric region	IEA Inferred from Electronic Annotation more info
located_in ciliary membrane	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary transition zone	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
part_of exocyst	ISO Inferred from Sequence Orthology more info
located_in intercellular bridge	ISO Inferred from Sequence Orthology more info
located_in kinetochore	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in microtubule cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule cytoskeleton	TAS Traceable Author Statement more info	PubMed
located_in midbody	TAS Traceable Author Statement more info	PubMed
located_in motile cilium	IEA Inferred from Electronic Annotation more info
located_in myelin sheath	HDA more info	PubMed
located_in non-motile cilium	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in photoreceptor connecting cilium	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of septin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of septin complex	IDA Inferred from Direct Assay more info	PubMed
part_of septin complex	ISO Inferred from Sequence Orthology more info
is_active_in septin ring	IBA Inferred from Biological aspect of Ancestor more info
located_in sperm annulus	ISO Inferred from Sequence Orthology more info
located_in spindle microtubule	TAS Traceable Author Statement more info	PubMed
located_in synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in synaptic vesicle	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: septin-2

Names: neural precursor cell expressed, developmentally down-regulated gene 5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001159717.1 → NP_001153189.1 septin-2 isoform a

See identical proteins and their annotated locations for NP_001153189.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).

Source sequence(s)

AC108412, BB849650, CJ075082, D49382

Consensus CDS

CCDS15190.1

UniProtKB/Swiss-Prot

B2RRZ2, P42208, Q3U9Y5

Related

ENSMUSP00000136366.2, ENSMUST00000179353.8

Conserved Domains (1) summary

pfam00735
Location:35 → 306

Septin
NM_001159718.1 → NP_001153190.1 septin-2 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The resulting isoform (b) is shorter at the N-terminus, compared to isoform a. This variant lacks full-length transcript support in mouse, but it is supported by partial mouse ESTs and by the full-length orangutan mRNA, CR860673.1.

Source sequence(s)

AC108412, BY330456, CJ075082, D49382

UniProtKB/TrEMBL

E9Q3V6

Related

ENSMUSP00000127276.2, ENSMUST00000172165.8

Conserved Domains (1) summary

pfam00735
Location:1 → 266

Septin; Septin
NM_001159719.2 → NP_001153191.1 septin-2 isoform a

See identical proteins and their annotated locations for NP_001153191.1

Status: VALIDATED

Source sequence(s)

AC108412

Consensus CDS

CCDS15190.1

UniProtKB/Swiss-Prot

B2RRZ2, P42208, Q3U9Y5

Related

ENSMUSP00000132850.2, ENSMUST00000168776.8

Conserved Domains (1) summary

pfam00735
Location:35 → 306

Septin
NM_001421494.1 → NP_001408423.1 septin-2 isoform a

Status: VALIDATED

Source sequence(s)

AC108412

UniProtKB/Swiss-Prot

B2RRZ2, P42208, Q3U9Y5
NM_001421495.1 → NP_001408424.1 septin-2 isoform a

Status: VALIDATED

Source sequence(s)

AC108412

UniProtKB/Swiss-Prot

B2RRZ2, P42208, Q3U9Y5
NM_001421496.1 → NP_001408425.1 septin-2 isoform a

Status: VALIDATED

Source sequence(s)

AC108412

UniProtKB/Swiss-Prot

B2RRZ2, P42208, Q3U9Y5
NM_001421497.1 → NP_001408426.1 septin-2 isoform a

Status: VALIDATED

Source sequence(s)

AC108412

UniProtKB/Swiss-Prot

B2RRZ2, P42208, Q3U9Y5
NM_001421498.1 → NP_001408427.1 septin-2 isoform a

Status: VALIDATED

Source sequence(s)

AC108412

UniProtKB/Swiss-Prot

B2RRZ2, P42208, Q3U9Y5
NM_001421499.1 → NP_001408428.1 septin-2 isoform a

Status: VALIDATED

Source sequence(s)

AC108412

UniProtKB/Swiss-Prot

B2RRZ2, P42208, Q3U9Y5
NM_001421500.1 → NP_001408429.1 septin-2 isoform c

Status: VALIDATED

Source sequence(s)

AC108412
NM_001421501.1 → NP_001408430.1 septin-2 isoform c

Status: VALIDATED

Source sequence(s)

AC108412
NM_001421502.1 → NP_001408431.1 septin-2 isoform b

Status: VALIDATED

Source sequence(s)

AC108412

UniProtKB/TrEMBL

E9Q3V6
NM_010891.2 → NP_035021.1 septin-2 isoform a

See identical proteins and their annotated locations for NP_035021.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).

Source sequence(s)

AC108412, CJ075082, D49382

Consensus CDS

CCDS15190.1

UniProtKB/Swiss-Prot

B2RRZ2, P42208, Q3U9Y5

Related

ENSMUSP00000027495.9, ENSMUST00000027495.15

Conserved Domains (1) summary

pfam00735
Location:35 → 306

Septin