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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SEPT9 Gene

protein-coding GIFtS: 53
GCID: GC17P075277

septin 9

(Previous name: MLL septin-like fusion )
(Previous symbol: MSF)

Search for SEPT9
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 9¹ ²		Septin D1² ³
MSF¹ ² ³ ⁵		MLL Septin-Like Fusion Protein MSF-A² ³
MSF1¹ ² ⁵		Ov/Br Septin² ³
AF17q25¹ ²		NAPB² ⁵
PNUTL4¹ ²		MLL Septin-Like Fusion¹
SeptD1¹ ²		SINT1²
KIAA0991¹ ³		Septin-9¹
Ovarian/Breast Septin² ³		MLL Septin-Like Fusion Protein³

External Ids:	HGNC: 7323¹	Entrez Gene: 10801²	Ensembl: ENSG00000184640⁷	OMIM: 604061⁵	UniProtKB: Q9UHD8³

Export aliases for SEPT9 gene to outside databases

Previous GC identifers: GC17P072790 GC17P070710

(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 SEPT9:

This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for

the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as

neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene

on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding

different isoforms have been described.(provided by RefSeq, Mar 2009)

UniProtKB/Swiss-Prot: SEPT9_HUMAN, Q9UHD8

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

role in the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella flexneri

Gene Wiki entry for SEPT9

(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 SEPT9 gene promoter:
E2F-3a E2F-4 E2F-5 E2F-2 Tal-1beta E47 Max E2F-1 E2F
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SEPT9 promoter sequence

Search SABiosciences Chromatin IP Primers for SEPT9

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SEPT9

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

Entrez Gene cytogenetic band: 17q25 Ensembl cytogenetic band: 17q25.2 HGNC cytogenetic band: 17q25.3

SEPT9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEPT9 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P075277: view genomic region (about GC identifiers)

Start:	75,276,651 bp from pter	End:	75,496,678 bp from pter
Size:	220,028 bases	Orientation:	plus strand

1 alternative location:

Chr17+,PATCHES 75,295,594-75,295,917

(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: SEPT9_HUMAN, Q9UHD8 (See protein sequence)

Recommended Name: Septin-9

Size: 586 amino acids; 65401 Da

Subunit: Septins polymerize into heterooligomeric protein complexes that form filaments, and associate with cellular

membranes, actin filaments, and microtubules. GTPase activity is required for filament formation. Interacts with

SEPT2, SEPT6, SEPT7, SEPT11 and SEPT14. Interacts with RTKN and ARHGEF18. In a mesenchymal cell line, Rho/RTKN signals

cause disruption of wild-type septin filaments, but not of those containing isoform 2 variants HNA Trp-106 and

Phe-111. In a mesenchymal cell line, isoform 2 variants HNA Trp-106 and Phe-111, but not wild type, form filaments

with SEPT4

Subcellular location: Cytoplasm, cytoskeleton. Note=In an epithelial cell line, concentrates at cell-cell contact

areas. After TGF-beta1 treatment and induction of epithelial to mesenchymal transition, colocalizes partly with actin

stress fibers. During bacterial infection, displays a collar shape structure next to actin at the pole of invading

bacteria

Sequence caution: Sequence=BAB14057.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;

Secondary accessions: A8K2V3 B3KPM0 B4DTL9 B4E0N2 B4E274 B7Z654 Q96QF3 Q96QF4 Q96QF5 Q9HA04 Q9UG40

Q9Y5W4

Alternative splicing: 8 isoforms: Q9UHD8-1 Q9UHD8-2 Q9UHD8-3 Q9UHD8-4 Q9UHD8-5 Q9UHD8-7 Q9UHD8-8 Q9UHD8-9

(No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SEPT9: NX_Q9UHD8

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9UHD8

SEPT9 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (7 alternative transcripts):

NP_001106963.1 NP_001106964.1 NP_001106965.1 NP_001106966.1 NP_001106967.1 NP_001106968.1 NP_006631.2

ENSEMBL proteins:

ENSP00000465332 ENSP00000391249 ENSP00000466684 ENSP00000468406 ENSP00000465600

ENSP00000406987 ENSP00000465464 ENSP00000468090 ENSP00000465026 ENSP00000468504

ENSP00000468668 ENSP00000405877 ENSP00000466164 ENSP00000403194 ENSP00000466997

ENSP00000468244 ENSP00000467051 ENSP00000468120 ENSP00000467908 ENSP00000466170

ENSP00000464832 ENSP00000467792 ENSP00000438089 ENSP00000465415 ENSP00000466247

ENSP00000466201 ENSP00000466648 ENSP00000468110 ENSP00000467780 ENSP00000467619

ENSP00000468410 ENSP00000465904 ENSP00000415624 ENSP00000466532 ENSP00000466115

ENSP00000329161 ENSP00000400181

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: SEPT9 OriGene Protein Over-expression Lysate (see all 2): SEPT9 OriGene Custom Protein Services for SEPT9
	GenScript Custom Purified and Recombinant Proteins Services for SEPT9
	Novus Biologicals SEPT9 Proteins Novus Biologicals SEPT9 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:0001725	stress fiber	IDA	15485874
GO:0005737	cytoplasm	TAS	10339604
GO:0005874	microtubule	IDA	15485874
GO:0015629	actin cytoskeleton	IDA	--
GO:0048471	perinuclear region of cytoplasm	IDA	15485874

SEPT9 for ontologies About GeneDecksing

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	Novus Biologicals SEPT9 Antibodies
	Search for Antibodies for SEPT9 at Abcam
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	Search ThermoFisher Antibodies for SEPT9

Assay Products for SEPT9:

	Browse Kits and Assays available from EMD Millipore
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	GenScript Custom Assay Services for SEPT9
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

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

SEPT9 for domains About GeneDecksing

1 InterPro domain/family:

IPR000038 Cell_div_GTP-bd

Graphical View of Domain Structure for InterPro Entry Q9UHD8

ProtoNet protein and cluster: Q9UHD8

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

UniProtKB/Swiss-Prot: SEPT9_HUMAN, Q9UHD8

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: SEPT9_HUMAN, Q9UHD8

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

role in the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella flexneri

miRNA Products:		OriGene 3'-UTR Clone (see all 7): SEPT9 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SEPT9
		8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate SEPT9 (see all 28):
		hsa-miR-607 hsa-miR-300 hsa-miR-1271 hsa-miR-650 hsa-miR-421 hsa-miR-124 hsa-miR-205* hsa-miR-1252

		SwitchGear 3'UTR luciferase reporter plasmid: SEPT9 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SEPT9 OriGene shRNA RFP: SEPT9 OriGene siRNA: SEPT9
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for SEPT9

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SEPT9
		Search LifeMap BioReagents cell lines for SEPT9

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEPT9

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:0003924	GTPase activity	TAS	10339604
GO:0005515	protein binding	IPI	17922164
GO:0005525	GTP binding	IEA	--

SEPT9 for ontologies 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

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for SEPT9

STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

5/757 Interacting proteins for SEPT9 (Q9UHD8^{1, 2, 3} ENSP00000391249⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 757)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIF1A	Q16665¹^,³, ENSP00000338018⁴	EBI-851558,EBI-447269 I2D: score=4 STRING: ENSP00000338018
SRRM2	Q9UQ35²^,³, ENSP00000301740⁴	MINT-7945693 I2D: score=1 STRING: ENSP00000301740
UBA5	Q9GZZ9²^,³	MINT-7945693 MINT-7947479 I2D: score=1
SEPT7	Q16181²^,³, ENSP00000381992⁴	MINT-7945693 I2D: score=5 STRING: ENSP00000381992
CDC5L	Q99459², ENSP00000360532⁴	MINT-7945693 MINT-7947479 STRING: ENSP00000360532

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006184	GTP catabolic process	TAS	10339604
GO:0007049	cell cycle	IEA	--
GO:0051291	protein heterooligomerization	IDA	15485874
GO:0051301	cell division	IEA	--

SEPT9 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

SEPT9 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SEPT9
1 Novoseek chemical compound relationship for SEPT9 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
gtp	35.2	2	15095474 (2)

Search CenterWatch for drugs/clinical trials and news about SEPT9

(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 SEPT9 gene (7 alternative transcripts):

NM_001113491.1 NM_001113492.1 NM_001113493.1 NM_001113494.1 NM_001113495.1 NM_001113496.1 NM_006640.4

Unigene Cluster for SEPT9:

Septin 9

Hs.440932 [show with all ESTs]

Unigene Representative Sequence: NM_006640

18/47 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 47):

ENST00000589070 ENST00000427177(uc002jts.4 uc010wtk.2 uc002jtx.1)

ENST00000591833 ENST00000591198 ENST00000590576 ENST00000431235(uc002jty.4)

ENST00000587237 ENST00000590294 ENST00000588575 ENST00000590595 ENST00000591934

ENST00000588690 ENST00000592098 ENST00000423034(uc002jtv.3) ENST00000590059

ENST00000587514 ENST00000590586 ENST00000592407

miRNA Products:		OriGene 3'-UTR Clone (see all 7): SEPT9 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SEPT9
		8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate SEPT9 (see all 28):
		hsa-miR-607 hsa-miR-300 hsa-miR-1271 hsa-miR-650 hsa-miR-421 hsa-miR-124 hsa-miR-205* hsa-miR-1252

		SwitchGear 3'UTR luciferase reporter plasmid: SEPT9 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SEPT9 OriGene shRNA RFP: SEPT9 OriGene siRNA: SEPT9
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SEPT9

Additional cDNA sequence:

AB023208.1 AF142408.1 AF142569.1 AF189712.2 AF189713.3 AJ312319.1 AJ312320.1 AJ312321.1

AJ312322.1 AJ312323.1 AK022493.1 AK056495.1 AK290368.1 AK299828.1 AK300270.1 AK303449.1

AK304143.1 AK316473.1 AL080131.1 BC018877.1 BC021192.2 BC054004.1 BC064642.1 BC114550.1

BC128416.1 BT007215.1

24/58 DOTS entries (see all 58):

DT.100666739 DT.449495 DT.95208391 DT.100666731 DT.95131372 DT.100666729 DT.100666735 DT.95110873

DT.100666728 DT.100637584 DT.100666741 DT.95208406 DT.100039407 DT.100666736 DT.91775260 DT.120929152

DT.99967960 DT.100854583 DT.97860991 DT.120929012 DT.100873689 DT.120929127 DT.95208306 DT.97860988

14 AceView cDNA sequences:

AX748296 BM980800 AK097965 BE089869 AK093770 BG163902 AJ706498 AW007759

BP432802 AW406439 BF912064 BF738877 BF838764 AW236277

GeneLoc Exon Structure

5/37 Alternative Splicing Database (ASD) splice patterns (SP) for SEPT9 (see all 37) About this scheme

ExUns:	1	^	2a	·	2b	·	2c	^	3	^	4a	·	4b	·	4c	·	4d	^	5	^	6	^	7a	·	7b	^	8a	·	8b	·	8c	·	8d	^	9a	·	9b	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^
SP1:									-		-		-		-		-		-		-						-		-		-		-		-		-		-		-		-		-		-		-		-
SP2:									-		-		-		-		-		-		-						-		-		-		-		-		-		-		-		-		-		-		-		-
SP3:																			-		-						-		-		-		-		-		-		-		-		-		-		-		-		-
SP4:																																							-		-		-		-		-		-		-
SP5:																																															-		-		-

ExUns:	17	^	18	^	19a	·	19b	·	19c	^	20a	·	20b	^	21a	·	21b	·	21c	·	21d	·	21e	·	21f	·	21g	^	22	^	23a	·	23b	·	23c	·	23d	^	24	^	25a	·	25b	·	25c	·	25d	^	26	^	27	^
SP1:	-		-										-																-		-		-		-		-		-		-		-		-		-		-		-
SP2:	-		-																										-		-		-		-		-		-		-		-		-		-		-		-
SP3:	-		-																										-		-		-		-		-		-		-		-		-		-		-		-
SP4:	-		-																										-		-		-		-		-		-		-		-		-		-		-		-
SP5:	-		-																										-		-		-		-		-		-		-		-		-		-		-		-

ExUns:	28	^	29	^	30a	·	30b	·	30c	^	31	^	32a	·	32b	·	32c	^	33a	·	33b	^	34	^	35	^	36a	·	36b	·	36c	^	37	^	38a	·	38b	^	39a	·	39b	^	40a	·	40b
SP1:	-		-																																		-				-
SP2:	-		-																																		-				-
SP3:	-		-																																		-				-
SP4:	-		-																																		-				-
SP5:	-		-																																		-				-

ECgene alternative splicing isoforms for SEPT9

(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

SEPT9 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGGCCTGCCC

About this image
See SEPT9 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SEPT9

SOURCE GeneReport for Unigene cluster: Hs.440932

UniProtKB/Swiss-Prot: SEPT9_HUMAN, Q9UHD8

Tissue specificity: Widely expressed. Isoforms are differentially expressed in testes, kidney, liver heart, spleen,

brain, peripheral blood leukocytes, skeletal muscle and kidney. Specific isoforms appear to demonstrate tissue

specificity. Isoform 5 is the most highly expressed in fetal tissue. Isoform 1 is detected in all tissues except the

brain and thymus, while isoform 2, isoform 3, and isoform 4 are detected at low levels in approximately half of the

fetal tissues

SABiosciences Custom PCR Arrays for SEPT9

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SEPT9

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEPT9

(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.

Orthologs for SEPT9 gene from 5/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	Q5F3T2_CHICK⁶	septin 9	77(a)	1 ↔ 1	18(3763496-3812282)
lizard (Anolis carolinensis)	Reptilia	SEPT9⁶	--	67(a)	1 ↔ 1	2(110100342-110215023)
African clawed frog (Xenopus laevis)	Amphibia	Xl.8325²	Xenopus laevis transcribed sequence with moderate similarity to protein refNP_006631.1 (H.sapiens) MLL septin-like fusion; MLL septin-like fusion (NOTE non-standard symbol and name); septin D1 [Homo sapiens] less	79.63(n)		CA983391.1
zebrafish (Danio rerio)	Actinopterygii	msf²	MLL septin-like fusion	79.17(n)		337243 AY398383.1
worm (Caenorhabditis elegans)	Secernentea	unc-59⁶	UNCoordinated family member (unc-59)	27(a)	possible ortholog	I(13629214-13633485)

ENSEMBL Gene Tree for SEPT9 (if available)
TreeFam Gene Tree for SEPT9 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for SEPT9 gene

SEPT3² SEPT14² SEPT4² SEPT1² SEPT7² SEPT12² SEPT6² SEPT7L²

SEPT11² SEPT2² SEPT10² SEPT8² SEPT5²

16 SIMAP similar genes for SEPT9 using alignment to 25 protein entries: SEPT9_HUMAN (see all proteins):

SEPT3 SEPT1 SEPT7L SEPT12 SEPT11 SEPT2

SEPT5 DKFZp686F17268 Nbla02942 SEPT4 SEPT7 SEPT6

SEPT8 SEPT10 DKFZp547B243 SEPT14

SEPT9 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
				--	--	--		--	--
rs80338761^1,2	C	pathogenic	75398380(+)	`TGTCCC/TGGCGC`	8	R W	mis¹ ut5¹		0	--	--	--	--
rs80338762^1,2	C	pathogenic	75398396(+)	`GCTGTC/TCATTG`	8	S F	ut5¹ mis¹		0	--	--	--	--
rs74709560^1,2		--	70865586(+)	`ACAAAT/AAAAAA`	1	--	us2k¹		1		NA	2
rs77864114^1,2	C,F,	--	70865875(+)	`AAACCA/CGTGCA`	1	--	us2k¹		1		WA	118
rs75029876^1,2		--	70865910(+)	`GTTGAG/CGATCC`	1	--	us2k¹		2		NA	122
rs9916669^1,2	C,	--	70866247(+)	`cccagA/Cacttt`	1	--	us2k¹		0	--	--	--	--
rs113945264^1,2		--	70866360(+)	`TTGGCG/ATGGCG`	1	--	us2k¹		1		CSA	2
rs9901959^1,2	C,F,H,	--	70866537(+)	`AGGCAT/CGTTGA`	1	--	us2k¹		10		NS EA NA WA	1210
rs73375380^1,2	C,F,	--	70866915(+)	`GCAAGG/AGAAGA`	1	--	us2k¹		2		WA	4
rs113646462^1,2		--	70867680(+)	`CCCAGC/GCCAAG`	1	--	ut5¹		1		CSA	1

HapMap Linkage Disequilibrium report for SEPT9 (75276651 - 75496678 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 10 variations for SEPT9
5 CNVs: 47875 4047 5882 49930 47985
5 Indels: 45598 41913 25926 60248 25925
Human Gene Mutation Database (HGMD): SEPT9

Locus Specific Mutation Databases (LSDB): SEPT9

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SEPT9

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(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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SEPT9 for disorders About MalaCards

SEPT9 for disorders           About GeneDecksing

OMIM gene information: 604061
OMIM disorders: 162100
UniProtKB/Swiss-Prot: SEPT9_HUMAN, Q9UHD8

Note=A chromosomal aberration involving SEPT9/MSF is found in therapy-related acute myeloid leukemia (t-AML).

Translocation t(11;17)(q23;q25) with MLL

Defects in SEPT9 are a cause of hereditary neuralgic amyotrophy (HNA) [MIM:162100]; also known as neuritis

with brachial predilection (NAPB) or hereditary brachial plexus neuropathy or hereditary neuralgic amyotrophy with

predilection for brachial plexus. HNA is an autosomal dominant form of recurrent focal neuropathy characterized

clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by

severe pain in the affected arm. HNA is triggered by environmental factors such as infection or parturition

4 Novoseek disease relationships for SEPT9 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
neuralgic amyotrophy	93.5	9	19451530 (2), 18492087 (1), 19139049 (1), 20502708 (1) (see all 5)
ovarian neoplasms	58.2	2	16161048 (1), 14648661 (1)
leukemia	22	4	10339604 (2), 10485469 (1)
tumors	21.3	12	12727837 (2), 15095474 (2), 15782116 (1), 19443305 (1) (see all 8)

GeneTests: SEPT9

Hereditary Neuralgic Amyotrophy

Human Genome Epidemiology (HuGE) Navigator: SEPT9 (3 documents)

Export disorders for SEPT9 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 SEPT9 gene, integrated from 9 sources (see all 96):
(articles sorted by number of sources associating them with SEPT9)

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

MSF (MLL septin-like fusion), a fusion partner gene of MLL, in a therapy-related acute myeloid leukemia with a t(11;17)(q23;q25). (PubMed id 10339604)^{1, 2, 3, 9} Osaka M.... Zeleznik-Le N.J. (1999)
SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy. (PubMed id 19451530)^{1, 2, 9} Hannibal M.C.... Chance P.F. (2009)
Genomic and expression analyses of alternatively spliced transcripts of the MLL septin-like fusion gene (MSF) that map to a 17q25 region of loss in breast and ovarian tumors. (PubMed id 10673329)^{1, 2, 9} Kalikin L.M.... Petty E.M. (2000)
AF17q25, a putative septin family gene, fuses the MLL gene in acute myeloid leukemia with t(11;17)(q23;q25). (PubMed id 10485469)^{1, 3, 9} Taki T....Hayashi Y. (1999)
Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation--a family study. (PubMed id 18492087)^{1, 2, 9} Laccone F....Rehder H. (2008)
Characterization of a SEPT9 interacting protein, SEPT14, a novel testis-specific septin. (PubMed id 17922164)^{1, 2, 9} Peterson E.A....Petty E.M. (2007)
Mutations in SEPT9 cause hereditary neuralgic amyotrophy. (PubMed id 16186812)^{1, 2, 9} Kuhlenbaeumer G.... Chance P.F. (2005)
Genomic organization, complex splicing pattern and expression of a human septin gene on chromosome 17q25.3. (PubMed id 11593400)^{1, 2, 9} McIlhatton M.A.... Russell S.E. (2001)
Isolation and mapping of a human septin gene to a region on chromosome 17q, commonly deleted in sporadic epithelial ovarian tumors. (PubMed id 10987277)^{1, 2, 9} Russell S.E.H....Johnston P.G. (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)

(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: 10801	HGNC: 7323	AceView: MSF.1	Ensembl:ENSG00000184640	euGenes: HUgn10801
ECgene: SEPT9	H-InvDB: SEPT9

(According to HUGE)
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HUGE: KIAA0991

(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 SEPT9	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for SEPT9	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SEPT9

Intellectual Property for SEPT9 gene
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Patent Information for SEPT9 gene:
Search GeneIP for patents involving SEPT9

GeneCards and IP:
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