SEPT9 Gene
protein-coding GIFtS: 53
GCID: GC17P075277
|
|
septin 9(Previous name: MLL septin-like fusion )
(Previous symbol: MSF)
| |
Aliases
for SEPT9 gene
(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 |
Export aliases for SEPT9 gene to outside databasesPrevious GC identifers: GC17P072790 GC17P070710 |
Summaries
for SEPT9 gene(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 forthe ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known asneuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL geneon chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encodingdifferent isoforms have been described.(provided by RefSeq, Mar 2009)
UniProtKB/Swiss-Prot: SEPT9_HUMAN, Q9UHD8Function: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play arole in the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella flexneri
Gene Wiki entry for SEPT9
|
Genomic Views
for SEPT9 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 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
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: 17q25.3SEPT9 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 |
|
Proteins
for SEPT9 gene
(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 cellularmembranes, actin filaments, and microtubules. GTPase activity is required for filament formation. Interacts withSEPT2, SEPT6, SEPT7, SEPT11 and SEPT14. Interacts with RTKN and ARHGEF18. In a mesenchymal cell line, Rho/RTKN signalscause disruption of wild-type septin filaments, but not of those containing isoform 2 variants HNA Trp-106 andPhe-111. In a mesenchymal cell line, isoform 2 variants HNA Trp-106 and Phe-111, but not wild type, form filamentswith SEPT4
Subcellular location: Cytoplasm, cytoskeleton. Note=In an epithelial cell line, concentrates at cell-cell contactareas. After TGF-beta1 treatment and induction of epithelial to mesenchymal transition, colocalizes partly with actinstress fibers. During bacterial infection, displays a collar shape structure next to actin at the pole of invadingbacteria
Sequence caution: Sequence=BAB14057.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;
Secondary accessions: A8K2V3 B3KPM0 B4DTL9 B4E0N2 B4E274 B7Z654 Q96QF3 Q96QF4 Q96QF5 Q9HA04 Q9UG40Q9Y5W4Alternative 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 PhosphoSitePlus2View 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:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
SEPT9 for ontologies About GeneDecksing
SEPT9 Antibody Products:
Assay Products for SEPT9: |
Protein
Domains /
Families
for SEPT9 gene(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:Graphical View of Domain Structure for InterPro Entry Q9UHD8ProtoNet protein and cluster: Q9UHD8 1 Blocks protein family: IPB000038 Cell division/GTP binding protein
UniProtKB/Swiss-Prot: SEPT9_HUMAN, Q9UHD8Similarity: Belongs to the septin family |
Function
for SEPT9 gene
(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, Q9UHD8Function: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play arole in the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella flexneri
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SEPT9 (see all 7)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SEPT9 (see all 7)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript Custom all cDNA clones Services for SEPT9 | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SEPT9 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat 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
SEPT9 for ontologies About GeneDecksing
|
Pathways & Interactions
for SEPT9 gene
(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 CentralTM 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 (Q9UHD81, 2, 3 ENSP000003912494) via UniProtKB, MINT, STRING, and/or I2D (see all 757)About this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table
SEPT9 for ontologies About GeneDecksing
|
Drugs & Compounds
for SEPT9 gene(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 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
|
Transcripts
for SEPT9 gene(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_00664018/47 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
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SEPT9 (see all 7)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SEPT9 (see all 7)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript Custom all cDNA clones Services for SEPT9 | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SEPT9 | | | Vector BioLabs ready-to-use adenovirus/AAV for 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
|
Expression
for SEPT9 gene
(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, Q9UHD8Tissue 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 tissuespecificity. Isoform 5 is the most highly expressed in fetal tissue. Isoform 1 is detected in all tissues except thebrain and thymus, while isoform 2, isoform 3, and isoform 4 are detected at low levels in approximately half of thefetal tissues
SABiosciences Custom PCR Arrays for SEPT9
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SEPT9
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SEPT9 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SEPT9 | | | 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
for SEPT9 gene
(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 more |
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
for SEPT9 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| 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
|
Genomic Variants
for SEPT9 gene(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)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 17 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
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 |
|
Disorders
/ Diseases
for SEPT9 gene
(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.)
About This Section
|
 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 neuritiswith brachial predilection (NAPB) or hereditary brachial plexus neuropathy or hereditary neuralgic amyotrophy withpredilection for brachial plexus. HNA is an autosomal dominant form of recurrent focal neuropathy characterizedclinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded bysevere 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
GeneTests: SEPT9
Hereditary Neuralgic Amyotrophy
Human Genome Epidemiology (HuGE) Navigator: SEPT9 (3 documents)
Export disorders for SEPT9 gene to outside databases
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Publications
for SEPT9 gene (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)
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External Searches for SEPT9 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing SEPT9 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing SEPT9 gene
(According to HUGE)
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Specialized Databases showing SEPT9 gene(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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| Patent Information for SEPT9 gene:
Search GeneIP for patents involving SEPT9
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for SEPT9 gene(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
Advanced Cell Diagnostics
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for SEPT9 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SEPT9 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SEPT9 | | | OriGene Protein Over-expression Lysate for SEPT9 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for SEPT9 | | OriGene 3'-UTR Clone for SEPT9 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SEPT9 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SEPT9 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for SEPT9 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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