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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SEPT4 Gene

protein-coding GIFtS: 52
GCID: GC17M056597

septin 4

(Previous name: peanut-like 2 (Drosophila) )
(Previous symbol: PNUTL2)

Search for SEPT4
in

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Septin 4¹ ²		Cell Division Control-Related Protein 2² ³
PNUTL2¹ ² ³ ⁵		Cerebral Protein 7² ³
ARTS¹ ² ³		Peanut-Like Protein 2² ³
HCDCREL-2¹		SEP4² ³
CE5B3¹ ²		CE5B3 Beta² ³
H5¹ ²		Hucep-7¹
MART¹ ²		Peanut-Like 2 (Drosophila)¹
Apoptosis-Related Protein In The TGF-Beta Signaling Pathway² ³		BRADEION²
Bradeion Beta² ³		Septin-4¹
Brain Protein H5² ³		Septin-M¹

External Ids:	HGNC: 9165¹	Entrez Gene: 5414²	Ensembl: ENSG00000108387⁷	OMIM: 603696⁵	UniProtKB: O43236³

Export aliases for SEPT4 gene to outside databases

Previous GC identifers: GC17M053953 GC17M051957

(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 SEPT4:

This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell

division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to

regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large

multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript

variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is

distinct; it is localized to the mitochondria, and has a role in apoptosis and cancer. (provided by RefSeq, Nov 2010)

UniProtKB/Swiss-Prot: SEPT4_HUMAN, O43236

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

role in platelet secretion. Isoform ARTS, but not the other isoforms, is required for the induction of cell death

mediated by TGF-beta and by other apoptotic stimuli

Gene Wiki entry for SEPT4

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010783.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SEPT4 gene promoter:
CHOP-10 Elk-1 NF-1 NF-1/L Lmo2 C/EBPalpha
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for SEPT4

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SEPT4

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

Entrez Gene cytogenetic band: 17q22 Ensembl cytogenetic band: 17q22 HGNC cytogenetic band: 17q22

SEPT4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEPT4 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M056597: view genomic region (about GC identifiers)

Start:	56,597,611 bp from pter	End:	56,618,179 bp from pter
Size:	20,569 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SEPT4_HUMAN, O43236 (See protein sequence)

Recommended Name: Septin-4

Size: 478 amino acids; 55098 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). Interacts with SEPT8. In a mesenchymal cell line, interacts with SEPT9 isoform 2 variants HNA Trp-106 and

Phe-111, but not the wild type SEPT9. Isoform ARTS, but no other isoforms, interacts with XIAP after the induction of

apoptosis

Subcellular location: Cytoplasm (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=In platelets, found in

areas surrounding alpha-granules

Subcellular location: Isoform ARTS: Mitochondrion. Nucleus. Note=While predominantly localized in the mitochondria

under resting conditions, isoform ARTS translocates into the nucleus after TGF-beta treatment and apoptosis induction

Secondary accessions: B2RD42 B3KSX9 B4DXC6 B4DXV5 Q6IAP3 Q9H315 Q9UM58

Alternative splicing: 6 isoforms: O43236-1 O43236-2 O43236-3 O43236-4 O43236-5 O43236-6 (May be defective in GTP-binding)

Explore the universe of human proteins at neXtProt for SEPT4: NX_O43236

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O43236

SEPT4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (6 alternative transcripts):

NP_001185642.1 NP_001243711.1 NP_001243751.1 NP_004565.1 NP_536340.1 NP_536341.1

ENSEMBL proteins:

ENSP00000463768 ENSP00000402348 ENSP00000464373 ENSP00000321674 ENSP00000402000

ENSP00000462727 ENSP00000321071 ENSP00000414779 ENSP00000464382 ENSP00000463671

ENSP00000462278 ENSP00000462362 ENSP00000463461 ENSP00000464360 ENSP00000376801

Human Recombinant Protein Products:

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	OriGene Purified Proteins (see all 2): SEPT4 OriGene Protein Over-expression Lysate (see all 3): SEPT4 OriGene Custom Protein Services for SEPT4
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	Novus Biologicals SEPT4 Protein Novus Biologicals SEPT4 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	NAS	11146656
GO:0005730	NOT nucleolus	IDA	--
GO:0005739	mitochondrion	NAS	11146656
GO:0005856	cytoskeleton	IEA	--
GO:0042995	cell projection	IEA	--

SEPT4 for ontologies About GeneDecksing

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	ThermoFisher Antibodies for SEPT4

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SEPT4 for domains About GeneDecksing

1 InterPro domain/family:

IPR000038 Cell_div_GTP-bd

Graphical View of Domain Structure for InterPro Entry O43236

ProtoNet protein and cluster: O43236

1 Blocks protein family: IPB000038 Cell division/GTP binding protein

UniProtKB/Swiss-Prot: SEPT4_HUMAN, O43236

Similarity: Belongs to the septin family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: SEPT4_HUMAN, O43236

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

role in platelet secretion. Isoform ARTS, but not the other isoforms, is required for the induction of cell death

mediated by TGF-beta and by other apoptotic stimuli

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SEPT4
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		hsa-miR-330-5p hsa-miR-326
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		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SEPT4 OriGene shRNA RFP: SEPT4 OriGene siRNA: SEPT4
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for SEPT4

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SEPT4
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEPT4

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003924	GTPase activity	TAS	9889007
GO:0005198	structural molecule activity	TAS	9889007
GO:0005515	protein binding	IPI	--
GO:0005525	GTP binding	IEA	--

SEPT4 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for SEPT4:

Increased G1 DNA content

Synthetic lethal with Ras

Animal Models:
Mouse knock-outs for SEPT4: Sept4^tm1Hs Sept4^tm1Ksh
1 MGI mutant phenotype (inferred from 2 alleles) (MGI details for Sept4):

reproductive system

SEPT4 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Apoptosis Modulation and Signaling

Apoptosis Modulation and Signaling

1.00

1 BioSystems Pathway for SEPT4

Apoptosis Modulation and Signaling

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SEPT4

STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

5/25 Interacting proteins for SEPT4 (O43236^{1, 2, 3} ENSP00000321674⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 25)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SIAH1	Q8IUQ4¹^,³, ENSP00000349156⁴	EBI-4372019,EBI-747107 I2D: score=1 STRING: ENSP00000349156
XIAP	P98170¹^,³, ENSP00000347858⁴	EBI-4372019,EBI-517127 I2D: score=2 STRING: ENSP00000347858
SEPT8	Q92599³, ENSP00000367991⁴	I2D: score=3 STRING: ENSP00000367991
PARK2	O60260³, ENSP00000355865⁴	I2D: score=1 STRING: ENSP00000355865
SEPT14	Q6ZU15³, ENSP00000373627⁴	I2D: score=1 STRING: ENSP00000373627

About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000910	cytokinesis	TAS	9889007
GO:0006184	GTP catabolic process	TAS	9889007
GO:0006915	apoptotic process	NAS	11146656
GO:0007049	cell cycle	IEA	--
GO:0007286	spermatid development	--	--

SEPT4 for ontologies About GeneDecksing

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

SEPT4 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SEPT4
1 Novoseek chemical compound relationship for SEPT4 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
dopamine	7.08	1	17296554 (1)

Search CenterWatch for drugs/clinical trials and news about SEPT4

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SEPT4 gene (7 alternative transcripts):

NM_001198713.1 NM_001256782.1 NM_001256822.1 NM_004574.3 NM_080415.2 NM_080416.2 NM_080417.1

Unigene Cluster for SEPT4:

Septin 4

Hs.287518 [show with all ESTs]

Unigene Representative Sequence: NR_037155

18/29 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 29):

ENST00000583114(uc002iwk.2) ENST00000426861(uc002iwo.2 uc002iwp.2)

ENST00000580796(uc010wnw.2 uc002iwl.2) ENST00000582270(uc010dcy.2)

ENST00000579371 ENST00000583273 ENST00000317268(uc002iwm.2) ENST00000577440

ENST00000457347(uc010wny.2 uc010wnx.2) ENST00000580844 ENST00000317256

ENST00000412945 ENST00000584488 ENST00000580809 ENST00000577729 ENST00000581615

ENST00000578131 ENST00000585170

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SEPT4
		2 QIAGEN miScript miRNA Assays for microRNAs that regulate SEPT4:
		hsa-miR-330-5p hsa-miR-326
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		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SEPT4 OriGene shRNA RFP: SEPT4 OriGene siRNA: SEPT4
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SEPT4

Additional cDNA sequence:

AB002110.1 AB008753.1 AB010642.1 AF035811.1 AF073312.1 AF176379.1 AK022400.1 AK091065.1

AK294094.1 AK295527.1 AK301914.1 AK302146.1 AK308957.1 AK314528.1 AK315045.1 AK315396.1

BC018055.1 BC018056.1 BC128255.1 BC128515.1 BC142968.1 CR457111.1 D89278.1 NR_037155.1

U88829.1 U88870.1

24/31 DOTS entries (see all 31):

DT.100793369 DT.40110818 DT.456406 DT.216724 DT.100027777 DT.101983194 DT.40108205 DT.95137261

DT.120999949 DT.95175652 DT.120999931 DT.100793366 DT.101958055 DT.95137259 DT.100793368 DT.101979991

DT.40250514 DT.75107899 DT.75164077 DT.92436912 DT.95137268 DT.120999972 DT.121000056 DT.75127434

24/210 AceView cDNA sequences (see all 210):

BE185414 AF073312 CA434003 BI833961 CD635818 AB002110 BI752203 CR603899

AA324423 CB121636 AK022400 BI833148 CD673142 CR604379 BM707803 CR457111

CB154934 BQ636911 D89278 AB008753 AK094579 F02363 BM918665 BM694115

GeneLoc Exon Structure

5/25 Alternative Splicing Database (ASD) splice patterns (SP) for SEPT4 (see all 25) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	·	1f	^	2a	·	2b	^	3a	·	3b	·	3c	·	3d	·	3e	^	4a	·	4b	·	4c	^	5	^	6a	·	6b	·	6c	·	6d	·	6e	^	7a	·	7b	·	7c	^	8a	·
SP1:													-		-		-		-		-		-		-		-		-		-		-										-		-		-		-
SP2:																											-		-		-		-										-		-		-		-
SP3:													-		-		-		-		-		-		-		-		-		-		-										-		-		-		-
SP4:													-		-		-		-		-		-		-		-		-		-		-										-		-		-		-
SP5:													-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-

ExUns:	8b	·	8c	·	8d	·	8e	^	9	^	10a	·	10b	·	10c	^	11	^	12a	·	12b	^	13a	·	13b	^	14	^	15a	·	15b	^	16	^	17	^	18
SP1:													-		-						-
SP2:													-		-						-
SP3:															-
SP4:													-		-
SP5:													-		-						-

ECgene alternative splicing isoforms for SEPT4

(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

SEPT4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCGGCCCCTC

About this image

SEPT4 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

5 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

Mature Horizontal Cells

Horizontal, Retina

Kidney

Ureteric Bud Tip Cells

Kidney

Ovary

Ovary

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

See SEPT4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SEPT4

SOURCE GeneReport for Unigene cluster: Hs.287518

UniProtKB/Swiss-Prot: SEPT4_HUMAN, O43236

Tissue specificity: Widely expressed in adult and fetal tissues with highest expression in adult brain (at protein

level), heart, liver and adrenal gland and fetal heart, kidney, liver and lung. Also expressed in colorectal cancers

and malignant melanomas. Expressed in platelets

SABiosciences Custom PCR Arrays for SEPT4

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SEPT4

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEPT4

(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 SEPT4 gene from 6/26 species (see all 26) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	SEPT4¹	septin 4	76.12(n) 80.52(a)		770762 XM_001234087.2 XP_001234088.2
lizard (Anolis carolinensis)	Reptilia	SEPT4⁶	--	89(a)	1 ↔ 1	GL344042.1(59943-70106)
zebrafish (Danio rerio)	Actinopterygii	sept4b¹	septin 4b	73.2(n) 79.05(a)		100003446 XM_001342978.4 XP_001343014.4
fruit fly (Drosophila melanogaster)	Insecta	Sep4¹	Septin 4	61.27(n) 57.56(a)		32646 NM_132919.2 NP_573147.2
worm (Caenorhabditis elegans)	Secernentea	unc-59⁶	UNCoordinated family member (unc-59)	33(a)	possible ortholog	I(13629214-13633485)
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	CDC12(YHR107C)⁴ CDC12¹	Component of the septin ring of the mother-bud neck more⁴ Cdc12p¹	49.69(n)¹ 43.87(a)¹		8(328036-326813)⁴ 856507^{1, 4} NP_011975.1^{1, 4}

ENSEMBL Gene Tree for SEPT4 (if available)
TreeFam Gene Tree for SEPT4 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SEPT4 gene

SEPT3² SEPT9² SEPT14² SEPT1² SEPT7² SEPT12² SEPT6² SEPT7L²

SEPT11² SEPT2² SEPT10² SEPT8² SEPT5²

18 SIMAP similar genes for SEPT4 using alignment to 12 protein entries: SEPT4_HUMAN (see all proteins):

CE5B3 alpha SEPT5 SEPT1 SEPT2 SEPT7 DKFZp686F17268

Nbla02942 SEPT7L SEPT3 SEPT9 SEPT8 MAFK

SEPT12 SEPT14 DKFZp547B243 SEPT10 SEPT11 SEPT6

SEPT4 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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)
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SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs113869894^1,2	C	--	51957932(+)	`CAGAAC/G/TCCACC`	14	--	nc-transcript-variantut3¹		1		CSA	1
rs113792276^1,2	C	--	51958519(+)	`GTTTGC/G/TTAAAG`	9	--	spa¹ nc-transcript-variantut3¹		1		CSA	1
rs113227839^1,2	C	--	51958521(+)	`TTGCTA/G/TAAGGG`	9	--	nc-transcript-variantint¹ ut3¹		1		CSA	1
rs10719315^1,2	C,	--	51958529(+)	`GGGAG-/AAAAGG`	7	--	int¹ nc-transcript-variantut3¹ trp³		1		CSA	2
rs79030531^1,2	C,	--	51958532(+)	`AGAAAA/GGGGTT`	7	--	nc-transcript-variantint¹ ut3¹		0	--	--	--	--
rs111699715^1,2	C	--	51959325(+)	`GATCTC/G/TACAAA`	7	--	int¹		1		CSA	1
rs112750730^1,2	C	--	51959780(+)	`CAGCTC/GGGGCA`	7	--	int¹		1		CSA	1
rs71372839^1,2	C,	--	51962291(+)	`CTAGGC/TTATAG`	7	--	int¹		2		NA	122
rs60227371^1,2	C,F,	--	51962590(+)	`TCCCTC/TTTACT`	7	--	int¹		5		WA CSA	125
rs112657072^1,2	C	--	51962840(+)	`TGTCCA/G/TCTGCA`	20	E A V	nc-transcript-variantmis¹		1		CSA	1

HapMap Linkage Disequilibrium report for SEPT4 (56597611 - 56618179 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SEPT4: --

SABiosciences Cancer Mutation PCR Assays

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DNA2.0 Custom Variant and Variant Library Synthesis for SEPT4

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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SEPT4 for disorders About MalaCards

SEPT4 for disorders About GeneDecksing

OMIM gene information: 603696 OMIM disorders: --

1 Novoseek disease relationship for SEPT4 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
parkinson disease	45.8	1	17296554 (1)

Human Genome Epidemiology (HuGE) Navigator: SEPT4 (2 documents)

Export disorders for SEPT4 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 SEPT4 gene, integrated from 9 sources (see all 51):
(articles sorted by number of sources associating them with SEPT4)

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Characterization of a novel gene, PNUTL2, on human chromosome 17q22- q23 and its exclusion as the Meckel syndrome gene. (PubMed id 9889007)^{1, 2, 3, 9} Paavola P.... Peltonen L. (1999)
The novel human platelet septin SEPT8 is an interaction partner of SEPT4. (PubMed id 15116257)^{1, 2, 9} Blaser S....Zieger B. (2004)
Characterization and expression analysis of two human septin genes, PNUTL1 and PNUTL2. (PubMed id 11167005)^{1, 2, 9} Zieger B.... Ware J. (2000)
A novel mitochondrial septin-like protein, ARTS, mediates apoptosis dependent on its P-loop motif. (PubMed id 11146656)^{1, 2, 9} Larisch S.... Roberts A.B. (2000)
SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling. (PubMed id 17546647)^{1, 2} Sudo K....Nagata K. (2007)
Regulation of the proapoptotic ARTS protein by ubiquitin-mediated degradation. (PubMed id 15837787)^{1, 2} Lotan R.... Larisch S. (2005)
The mitochondrial ARTS protein promotes apoptosis through targeting XIAP. (PubMed id 15029247)^{1, 2} Gottfried Y.... Larisch S. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Characterization of tissue- and cell-type-specific expression of a novel human septin family gene, Bradeion. (PubMed id 11511094)^{1, 2} Tanaka M....Yamamoto M. (2001)

(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: 5414	HGNC: 9165	AceView: PNUTL2	Ensembl:ENSG00000108387	euGenes: HUgn5414
ECgene: SEPT4	H-InvDB: SEPT4

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SEPT4	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SEPT4 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 SEPT4 gene:
Search GeneIP for patents involving SEPT4

GeneCards and IP:
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SEPT4 (Gene Symbol)
Septin 4
PNUTL2
ARTS
HCDCREL-2
CE5B3
H5
MART
Apoptosis-Related Protein In The TGF-Beta Signaling Pathway
Bradeion Beta
Brain Protein H5
Cell Division Control-Related Protein 2
Cerebral Protein 7
Peanut-Like Protein 2
SEP4
CE5B3 Beta
Hucep-7
Peanut-Like 2 (Drosophila)
BRADEION
Septin-4
Septin-M

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