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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SEPT3 Gene

protein-coding GIFtS: 54
GCID: GC22P042372

Septin 3

(Previous symbol: SEP3)

4 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 and molecular_function. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000022.10 NT_011520.12 NC_018933.2

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for SEPT3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)

Subcellular location: Cytoplasm. Cytoplasm, cytoskeleton (By similarity). Cell junction, synapse (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:

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

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q9UH03

SEPT3 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (2 alternative transcripts):

NP_061979.3 NP_663786.2

ENSEMBL proteins:

ENSP00000391416 ENSP00000379704 ENSP00000383956 ENSP00000379703 ENSP00000379695

ENSP00000291236 ENSP00000332866

Human Recombinant Protein Products for SEPT3:

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	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.

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): 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

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	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)
About This Section

HGNC Gene Families:

SEPT: Septins

4 InterPro protein domains:

IPR000038 Cell_div_GTP-bd

IPR027417 P-loop_NTPase

IPR008114 Septin3

IPR016491 Septin

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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

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 (GO ID links to tree view): 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 - Custom generated mouse model solutions for SEPT3

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SEPT3
		8/86 QIAGEN miScript miRNA 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:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for SEPT3
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEPT3
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SEPT3
		Search LifeMap BioReagents cell lines for SEPT3

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEPT3

(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

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

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for SEPT3

STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

5/36 Interacting proteins for SEPT3 (Q9UH03^{2, 3} ENSP00000379704⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 36)

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

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000910	cytokinesis	NAS	--
GO:0007049	cell cycle	--	--

SEPT3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SEPT3 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

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)

Search CenterWatch for drugs/clinical trials and news about SEPT3

(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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SEPT3
		8/86 QIAGEN miScript miRNA 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:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SEPT3
		QIAGEN 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

24/214 AceView cDNA sequences (see all 214):

AI369698 BM708052 BQ937737 AK128138 BX345218 CR456400 BM771840 AW169980

AA666390 AI220013 BM770744 BQ924462 BQ071318 CR611488 BM770133 NM_145733

CR618252 BM449683 BQ232940 BF508668 BX280551 Z38211 BF528667 AF285108

GeneLoc Exon Structure

5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

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

5/11 selected tissues (see all 11) fully expand


Brain (Nervous System) fully expand to see all 28 entries
Thalamus
Fetal Neuronal Stem Cells (NSC)
Septum

Inner Cell Mass (Early Embryonic Tissues) fully expand to see all 5 entries
ESI-017

Neural Tube (Nervous System) fully expand to see all 2 entries
Primitive Spinal Cord

Neuron (Nervous System) fully expand to see all 2 entries
Human Neuron (HN)

Spinal Cord (Nervous System) fully expand to see all 2 entries
Dorsal Horn

See SEPT3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SEPT3

SOURCE GeneReport for Unigene cluster: Hs.120483

UniProtKB/Swiss-Prot: SEPT3_HUMAN, Q9UH03

Tissue specificity: Brain-specific

SABiosciences Custom PCR Arrays for SEPT3

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		QIAGEN 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)
About This Section

This gene was present in the common ancestor of animals and fungi.

Orthologs for SEPT3 gene from 7/18 species (see all 18) 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	84.57(n) 94.64(a)		427899 XM_425473.3 XP_425473.3
lizard (Anolis carolinensis)	Reptilia	SEPT3⁶	septin 3	93(a)	1 ↔ 1	5(27011389-27033459)
zebrafish (Danio rerio)	Actinopterygii	sept3⁶	septin 3	78(a)	1 ↔ 1	1(46087335-46104648)
fruit fly (Drosophila melanogaster)	Insecta	Sep2⁶ Sep5⁶	Sep5	30(a) 30(a)	possible ortholog possible ortholog	3R(16411851-16414085) 2R(3847638-3849427)
worm (Caenorhabditis elegans)	Secernentea	unc-61⁶	Protein UNC-61, isoform a	23(a)	possible ortholog	V(14731095-14734237)
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	CDC10(YCR002C)⁴ CDC10¹	Component of the septin ring that is required for cytokinesis; more⁴ Cdc10p¹	52.31(n)¹ 47.92(a)¹		3(118348-117380)⁴ 850358^{1, 4} NP_009928.1^{1, 4}

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)
About This Section

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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

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

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(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.)
About This Section

OMIM gene information: 608314 OMIM disorders: --

4 diseases for SEPT3: About MalaCards

teratocarcinoma temporal lobe epilepsy neuronitis alzheimer's disease

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)
About This Section

PubMed articles for SEPT3 gene, integrated from 9 sources (see all 27):
(articles sorted by number of sources associating them with SEPT3)

Utopia: connect your pdf to the dynamic
world of online information

Human septin 3 on chromosome 22q13.2 is upregulated by neuronal differentiation. (PubMed id 11322766)^{1, 2, 9} Methner A.... Lewerenz J. (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. (2013)
A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)^{1, 2} Collins J.E.... Dunham I. (2004)
The DNA sequence of human chromosome 22. (PubMed id 10591208)^{1, 2} Dunham I....O'Brien K.P. (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. (2004)
Septin 3 gene polymorphism in Alzheimer's disease. (PubMed id 15200238)^{1, 9} Takehashi M....Ueda K. (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. (2012)
A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)
A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)¹ Vinayagam A....Wanker E.E. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (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)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

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:
Search GeneIP for patents involving SEPT3

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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