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SEPT3 Gene

protein-coding GIFtS: 52
GCID: GC22P042372

Septin 3

(Previous symbol: SEP3)

See related diseases
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Septin 3¹ ²
SEP3¹ ² ³ ⁵
bK250D10.3²
Neuronal-Specific Septin 3²
Neuronal-Specific Septin-3²

External Ids:	HGNC: 10750¹	Entrez Gene: 55964²	Ensembl: ENSG00000100167⁷	OMIM: 608314⁵	UniProtKB: Q9UH03³

Export aliases for SEPT3 gene to outside databases

Previous GC identifers: GC22P038987 GC22P040616 GC22P040697 GC22P025339

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SEPT3 Gene:

This gene belongs to the septin family of GTPases. Members of this family are required for cytokinesis. Expression

is upregulated by retinoic acid in a human teratocarcinoma cell line. The specific function of this gene has not

been determined. Alternative splicing of this gene results in two transcript variants encoding different

isoforms. (provided by RefSeq, Jul 2008)

GeneCards Summary for SEPT3 Gene:

SEPT3 (septin 3) is a protein-coding gene. Diseases associated with SEPT3 include teratocarcinoma, and temporal lobe epilepsy. GO annotations related to this gene include GTP binding. An important paralog of this gene is SEPT9.

UniProtKB/Swiss-Prot: SEPT3_HUMAN, Q9UH03

Function: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential)

Gene Wiki entry for SEPT3 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000022.11 NC_018933.2 NT_011520.13

Regulatory elements:

Regulatory transcription factor binding sites in the SEPT3 gene promoter:
USF1 USF2 STAT5A USF-1:USF-2 C/EBPalpha Pax-3 USF-1 c-Myb Pax-4a
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search Chromatin IP Primers for SEPT3

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SEPT3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.2 Ensembl cytogenetic band: 22q13.2 HGNC cytogenetic band: 22q13.2

SEPT3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEPT3 gene location

GeneLoc information about chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22P042372: view genomic region (about GC identifiers)

Start:	42,372,276 bp from pter	End:	42,394,225 bp from pter
Size:	21,950 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SEPT3_HUMAN, Q9UH03 (See protein sequence)

Recommended Name: Neuronal-specific septin-3

Size: 358 amino acids; 40704 Da

Subunit: 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)

Sequence caution: Sequence=AAG00517.1; Type=Erroneous initiation; Sequence=AAG00518.1; Type=Erroneous initiation;

Sequence=AAG00519.1; Type=Erroneous initiation; Sequence=AAI11780.2; Type=Erroneous initiation;

Sequence=CAD38797.1; Type=Erroneous initiation; Sequence=CAG30458.1; Type=Erroneous initiation;

1 PDB 3D structure from and Proteopedia for SEPT3:

3SOP (3D)

Secondary accessions: B1AHR0 Q2NKJ7 Q59GF7 Q6IBZ6 Q8N3P3 Q9HD35

Alternative splicing: 3 isoforms: Q9UH03-1 Q9UH03-2 Q9UH03-3

Explore the universe of human proteins at neXtProt for SEPT3: NX_Q9UH03

Explore proteomics data for SEPT3 at MOPED

Post-translational modifications:

Phosphorylated by PKG on serine residues. Phosphorylated by PKG on Ser-91 (By similarity)¹

Ubiquitination² at Lys226

Modification sites at PhosphoSitePlus

See SEPT3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_061979.3 NP_663786.2

ENSEMBL proteins:

ENSP00000391416 ENSP00000379704 ENSP00000383956 ENSP00000379703 ENSP00000379695

ENSP00000291236 ENSP00000332866

SEPT3 Human Recombinant Protein Products:

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	OriGene Purified Proteins for SEPT3 OriGene Protein Over-expression Lysate for SEPT3 OriGene MassSpec for SEPT3 OriGene Custom Protein Services for SEPT3
	GenScript Custom Purified and Recombinant Proteins Services for SEPT3
	Novus Biologicals SEPT3 Protein Novus Biologicals SEPT3 Lysates
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Cloud-Clone Corp.

SEPT3 Antibody Products:

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	Novus Biologicals SEPT3 Antibodies
	Search for Antibodies for SEPT3 at Abcam
	Browse Antibodies at Cloud-Clone Corp.
	ThermoFisher Antibodies for SEPT3
	Search LSBio for Antibodies for SEPT3

SEPT3 Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for SEPT3
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for SEPT3
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

SEPT: Septins

4 InterPro protein domains:

IPR016491 Septin

IPR000038 Cell_div_GTP-bd

IPR027417 P-loop_NTPase

IPR008114 Septin3

Graphical View of Domain Structure for InterPro Entry Q9UH03

ProtoNet protein and cluster: Q9UH03

2 Blocks protein domains:

IPB000038 Cell division/GTP binding protein

IPB008114 Septin 3 signature

UniProtKB/Swiss-Prot: SEPT3_HUMAN, Q9UH03

Similarity: Belongs to the septin family

SEPT3 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: SEPT3_HUMAN, Q9UH03

Function: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential)

Induction: Up-regulated during neuronal differentiation

Gene Ontology (GO): 3 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--
GO:0003924	GTPase activity	--	--
GO:0005525	GTP binding	IEA	--

SEPT3 for ontologies About GeneDecksing

Phenotypes:
2 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Sept3):

nervous system

normal

SEPT3 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-outs for SEPT3: Sept3^tm1Keng Sept3^tm1Wtr

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SEPT3

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SEPT3

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SEPT3

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SEPT3

miRNA Products:		Block miRNA regulation of human, mouse, rat SEPT3 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate SEPT3 (see all 86):
		hsa-miR-642a hsa-miR-1321 hsa-miR-146a hsa-miR-128 hsa-miR-30d hsa-miR-578 hsa-miR-342-3p hsa-miR-30a

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for SEPT3
		Predesigned siRNA for gene silencing in human, mouse, rat SEPT3

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for SEPT3

Clone Products:		OriGene clones in human, mouse for SEPT3 (see all 14) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript Custom all cDNA clones Services for SEPT3
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEPT3
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEPT3

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SEPT3
		Browse ESI BIO Cell Lines and PureStem Progenitors for SEPT3

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEPT3

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

SEPT3_HUMAN, Q9UH03: Cytoplasm. Cytoplasm, cytoskeleton (By similarity). Cell junction, synapse (By similarity)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytosol	3
cytoskeleton	2
nucleus	2
plasma membrane	2

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Gene Ontology (GO): 3 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0030054	cell junction	IEA	--
GO:0031105	septin complex	IEA	--
GO:0045202	synapse	IEA	--

SEPT3 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for SEPT3 About

See pathways by source

SuperPath

Contained pathways About

Bacterial invasion of epithelial cells

Bacterial invasion of epithelial cells

Pathways by source See SuperPaths
Show all pathways

1 Kegg Pathway (Kegg details for SEPT3):

Bacterial invasion of epithelial cells

SEPT3 for pathways About GeneDecksing

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for SEPT3
Interactions:

Search GeneGlobe Interaction Network for SEPT3

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for SEPT3 (Q9UH03^{2, 3} ENSP00000379704⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 113)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
WBP2	Q969T9²^,³, ENSP00000254806⁴	MINT-65566 I2D: score=4 STRING: ENSP00000254806
MAPK6	Q16659²^,³	MINT-8261912 I2D: score=2
PRKG1	Q13976³, ENSP00000363092⁴	I2D: score=1 STRING: ENSP00000363092
SEPT11	Q9NVA2³, ENSP00000264893⁴	I2D: score=1 STRING: ENSP00000264893
SEPT6	Q14141³, ENSP00000341524⁴	I2D: score=1 STRING: ENSP00000341524

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Gene Ontology (GO): 3 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000910	cytokinesis	--	--
GO:0007049	cell cycle	IEA	--
GO:0051301	cell division	IEA	--

SEPT3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for SEPT3

2 Novoseek inferred chemical compound relationships for SEPT3 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
retinoic acid	38.4	1	15200239 (1)
serine	25.9	1	15107017 (1)

SEPT3 for compounds About GeneDecksing

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for SEPT3 gene (3 alternative transcripts):

NM_019106.5 NM_145733.2 NM_145734.1

Unigene Cluster for SEPT3:

Septin 3

Hs.120483 [show with all ESTs]

Unigene Representative Sequence: NM_019106

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000449288 ENST00000396426(uc003bbr.4) ENST00000406029 ENST00000396425(uc003bbs.4 uc011apj.2)

ENST00000396417 ENST00000460267 ENST00000291236 ENST00000328414(uc010gys.3)

miRNA Products:		Block miRNA regulation of human, mouse, rat SEPT3 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate SEPT3 (see all 86):
		hsa-miR-642a hsa-miR-1321 hsa-miR-146a hsa-miR-128 hsa-miR-30d hsa-miR-578 hsa-miR-342-3p hsa-miR-30a

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for SEPT3
		Predesigned siRNA for gene silencing in human, mouse, rat SEPT3

Clone Products:		OriGene clones in human, mouse for SEPT3 (see all 14) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript Custom all cDNA clones Services for SEPT3
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEPT3
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEPT3

Primer Products:		OriGene qPCR primer pairs and template standards for SEPT3 OriGene qSTAR qPCR primer pairs in human, mouse for SEPT3
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat SEPT3
		QuantiTect SYBR Green Assays in human, mouse, rat SEPT3
		QuantiFast Probe-based Assays in human, mouse, rat SEPT3

Additional mRNA sequence:

AB209152.1 AF285107.1 AF285108.1 AF285109.1 AK290037.1 AK299919.1 AL833942.1 BC111779.1

CR456572.1

13 DOTS entries:

DT.86840677 DT.100683348 DT.100819854 DT.95270345 DT.100819858 DT.120642986 DT.120642993 DT.120643001

DT.101965960 DT.120643014 DT.403287 DT.92423021 DT.92423023

Selected AceView cDNA sequences (see all 214):

Z38211 NM_145734 CR456572 D54252 T59361 BM770744 AF285107 BQ924462

AI816497 CA388736 AI369698 BQ071318 BU191730 AA666390 BP348363 AW169980

BM770133 AF285109 NM_019106 BG315253 AI220013 T33727 BP348877 BM666855

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for SEPT3 (see all 6) About this scheme

ExUns:	1	^	2	^	3a	·	3b	^	4	^	5a	·	5b	^	6a	·	6b	^	7a	·	7b	^	8a	·	8b	^	9a	·	9b	^	10	^	11	^	12a	·	12b	^	13
SP1:											-
SP2:											-																										-
SP3:											-		-		-		-								-		-										-
SP4:			-		-		-				-
SP5:											-

ECgene alternative splicing isoforms for SEPT3

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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SEPT3 expression in normal human tissues (normalized intensities) SEPT3 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: AATGTTTGCG

About this image

SEPT3 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 4) fully expand


Brain (Nervous System) fully expand to see all 3 entries
Cerebellum

Neural Tube (Nervous System) fully expand to see all 2 entries
Metencephalon

Pancreas (Endocrine System)
Islets of Langerhans

Liver (Hepatobiliary System)
Mesothelial Cells Hepatic Mesenchyme

SEPT3 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

SEPT3 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.120483

UniProtKB/Swiss-Prot: SEPT3_HUMAN, Q9UH03

Tissue specificity: Brain-specific

Custom PCR Arrays for SEPT3

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		Pre-validated RT² qPCR Primer Assay in human, mouse, rat SEPT3
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		QuantiFast Probe-based Assays in human, mouse, rat SEPT3

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEPT3

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals and fungi.

Orthologs for SEPT3 gene from Selected species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Sept3^{1 , 5}	septin 3^{1, 5}	93.11(n)¹ 99.69(a)¹		15 (38.56 cM)⁵ 24050¹ NM_011889.2¹ NP_036019.2¹ 82274935⁵
chicken (Gallus gallus)	Aves	SEPT3¹	septin 3	84.99(n) 95.45(a)		427899 XM_425473.4 XP_425473.4
lizard (Anolis carolinensis)	Reptilia	SEPT3⁶	septin 3	93(a)	1 ↔ 1	5(27011389-27033459)
tropical clawed frog (Xenopus tropicalis)	Amphibia	sept3¹	septin 3	80.22(n) 91.1(a)		100488721 XM_002934722.2 XP_002934768.1
zebrafish (Danio rerio)	Actinopterygii	sept3¹	septin 3	74.1(n) 87(a)		554123 NM_001024418.1 NP_001019589.1
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	CDC10(YCR002C)⁴	Component of the septin ring that is required for cytokinesis; more	--		3(118348-117380) 850358 NP_009928.1

ENSEMBL Gene Tree for SEPT3 (if available)
TreeFam Gene Tree for SEPT3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for SEPT3 gene

SEPT9² SEPT14² SEPT4² SEPT1² SEPT12² SEPT7² ENSG00000270466² SEPT6²

SEPT11² SEPT2² SEPT10² SEPT8² SEPT5²

16 SIMAP similar genes for SEPT3 using alignment to 5 protein entries: SEPT3_HUMAN (see all proteins):

SEPT9 SEPT12 MAFK Nbla02942 SEPT4 SEPT2

DKFZp686F17268 SEPT7 SEPT1 SEPT5 SEPT6 SEPT11

DKFZp547B243 SEPT10 SEPT14 SEPT8

SEPT3 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 22 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs140029731^1,2		--	26287142(+)	`AAAAA-/GAAAAA`	1	--	int¹		0	--	--	--	--
rs141029606^1,2	C	--	26287188(+)	`CCTCCC/TACGTG`	1	--	int¹		0	--	--	--	--
rs11380985^1,2	C	--	26297009(+)	`TTCCCT/-TTTTT`	1	--	int¹ trp³		1		NA	2
rs183518343^1,2		--	42370931(+)	`CTAGCA/GCTTTA`	2	--	us2k¹		0	--	--	--	--
rs5751191^1,2	C,F,A,H	--	42370991(+)	`TGAGAC/TAATGA`	2	--	us2k¹ tfbs³		22		NS EA NA WA	2518
rs79622696^1,2	C,F	--	42371137(+)	`GCCTTG/ATATAT`	2	--	us2k¹		1		WA	118
rs187035765^1,2		--	42371194(+)	`GACATC/TCATTT`	2	--	us2k¹		0	--	--	--	--
rs4820451^1,2	C,F	--	42371333(+)	`AGTTTC/TTGGGT`	2	--	us2k¹ tfbs³		12		NA WA CSA EA	376
rs190373563^1,2		--	42371499(+)	`GCAGCA/CCAGCC`	2	--	us2k¹		0	--	--	--	--
rs182186883^1,2		--	42371500(+)	`CAGCCC/TAGCCC`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SEPT3 (42372276 - 42394225 bp)

Structural Variations
Database of Genomic Variants (DGV) 1 variation for SEPT3: About this table

Variant ID	Type	Subtype	PubMed ID
dgv4979n71	CNV	Loss	21882294

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing SEPT3

DNA2.0 Custom Variant and Variant Library Synthesis for SEPT3

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 608314 OMIM disorders: --

6 diseases for SEPT3: About MalaCards

teratocarcinoma temporal lobe epilepsy neuronitis alzheimer's disease

cerebritis hepatitis

SEPT3 for disorders About GeneDecksing

1 Novoseek inferred disease relationship for SEPT3 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
teratocarcinoma	71.8	1	15200239 (1)

Human Genome Epidemiology (HuGE) Navigator: SEPT3 (1 document)

Export disorders for SEPT3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for SEPT3 gene, integrated from 10 sources (see all 27):
(articles sorted by number of sources associating them with SEPT3)

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Human septin 3 on chromosome 22q13.2 is upregulated by neuronal differentiation. (PubMed id 11322766)^{1, 2, 9} Methner A.... Lewerenz J. (Biochem. Biophys. Res. Commun. 2001)
The structure and properties of septin 3: a possible missing link in septin filament formation. (PubMed id 23163726)^{1, 2} Macedo J.N.... Araujo A.P. (Biochem. J. 2013)
A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)^{1, 2} Collins J.E.... Dunham I. (Genome Biol. 2004)
The DNA sequence of human chromosome 22. (PubMed id 10591208)^{1, 2} Dunham I.... Wright H. (Nature 1999)
Phosphorylation of septin 3 on Ser-91 by cGMP-dependent protein kinase-I in nerve terminals. (PubMed id 15107017)^{1, 9} Xue J....Robinson P.J. (Biochem. J. 2004)
Septin 3 gene polymorphism in Alzheimer's disease. (PubMed id 15200238)^{1, 9} Takehashi M....Ueda K. (Gene Expr. 2004)
Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)¹ Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (amp 2011)
A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)¹ Vinayagam A....Wanker E.E. (Sci Signal 2011)
Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (amp 2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 55964	HGNC: 10750	AceView: SEPT3andMGC26816	Ensembl:ENSG00000100167	euGenes: HUgn55964
ECgene: SEPT3	Kegg: 55964	H-InvDB: SEPT3

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SEPT3	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for SEPT3	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for SEPT3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for SEPT3 gene:
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