SEPTIN9 Gene (Protein Coding)

Septin 9

GC17P077282
GIFtS:
36
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 ac... See more...

Aliases for SEPTIN9 Gene

Aliases for SEPTIN9 Gene

  • Septin 9 2 3 5
  • Ov/Br Septin 2 3 4
  • MLL Septin-Like Fusion Protein MSF-A 3 4
  • Ovarian/Breast Septin 3 4
  • Septin D1 3 4
  • Septin-9 3 4
  • KIAA0991 2 4
  • AF17q25 2 3
  • PNUTL4 2 3
  • SeptD1 2 3
  • SEPT9 3 4
  • MSF1 2 3
  • MSF 3 4
  • MLL Septin-Like Fusion Protein 4
  • MLL Septin-Like Fusion 2
  • SEPTIN9 5
  • SINT1 3
  • NAPB 3

External Ids for SEPTIN9 Gene

Previous HGNC Symbols for SEPTIN9 Gene

  • MSF
  • SEPT9

Summaries for SEPTIN9 Gene

Entrez Gene Summary for SEPTIN9 Gene

  • 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]

GeneCards Summary for SEPTIN9 Gene

SEPTIN9 (Septin 9) is a Protein Coding gene. Diseases associated with SEPTIN9 include Amyotrophy, Hereditary Neuralgic and Brachial Plexus Neuropathy. Among its related pathways are Shigellosis and ERK Signaling. An important paralog of this gene is SEPTIN3.

UniProtKB/Swiss-Prot Summary for SEPTIN9 Gene

  • 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 SEPTIN9 Gene

Additional gene information for SEPTIN9 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEPTIN9 Gene

Genomics for SEPTIN9 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SEPTIN9 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH17J077279 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 273.2 +4.2 4219 11 ZSCAN16 CHD2 ZBTB10 MXD4 SP1 CEBPA NR2C1 FOXA1 DEK IKZF1 SEPTIN9 SRSF2 ENSG00000267546 METTL23 ENSG00000272386 MFSD11 SEPTIN9-DT MN297512 TNRC6C
GH17J077318 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 285.9 +42.7 42669 10.3 TBP ZBTB10 BCL11A NR2C1 MNT IKZF1 SMAD5 HES1 MBD2 BHLHE40 SEPTIN9 HSALNG0118920 SRSF2 ENSG00000267546 BIRC5 ENSG00000200651 METTL23 MGAT5B MN297512 TNRC6C
GH17J077137 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 250.1 -137.1 -137130 12.5 TBP SP1 MXD4 BCL11A ZBTB10 CEBPA MNT SMAD5 HES1 ZFP64 SEC14L1 LOC105371901 SEPTIN9 TMC8 ENSG00000267546 RHBDF2 ENSG00000272386 HSALNG0118906 HSALNG0118908 HSALNG0118909
GH17J077370 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 264.7 +94.2 94192 8.2 CHD2 ZBTB10 MXD4 CEBPA IKZF1 SMAD5 ETS1 CTCF BHLHE40 ZIC2 SEPTIN9 HSALNG0118921 SRSF2 ENSG00000267546 ENSG00000272386 ENSG00000266998 METTL23 ENSG00000267543 MFSD11 PRPSAP1
GH17J077449 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 273 +178.1 178081 19.7 SP1 MXD4 BCL11A CEBPA NR2C1 MNT IKZF1 POLR2A BHLHE40 ZIC2 SEPTIN9 SRSF2 METTL23 MFSD11 ENSG00000267546 SNHG20 SEC14L1 LOC105371903 lnc-TMC6-11 HSALNG0118924
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEPTIN9 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEPTIN9

Genomic Locations for SEPTIN9 Gene

Latest Assembly
chr17:77,280,569-77,500,596
(GRCh38/hg38)
Size:
220,028 bases
Orientation:
Plus strand

Previous Assembly
chr17:75,277,581-75,496,678
(GRCh37/hg19 by Entrez Gene)
Size:
219,098 bases
Orientation:
Plus strand

chr17:75,276,651-75,496,678
(GRCh37/hg19 by Ensembl)
Size:
220,028 bases
Orientation:
Plus strand

Genomic View for SEPTIN9 Gene

Genes around SEPTIN9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEPTIN9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPTIN9 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SEPTIN9 Gene

Proteins for SEPTIN9 Gene

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  • Protein details for SEPTIN9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHD8-SEPT9_HUMAN
    Recommended name:
    Septin-9
    Protein Accession:
    Q9UHD8
    Secondary Accessions:
    • A8K2V3
    • B3KPM0
    • B4DTL9
    • B4E0N2
    • B4E274
    • B7Z654
    • Q96QF3
    • Q96QF4
    • Q96QF5
    • Q9HA04
    • Q9UG40
    • Q9Y5W4

    Protein attributes for SEPTIN9 Gene

    Size:
    586 amino acids
    Molecular mass:
    65401 Da
    Quaternary structure:
    • 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 SEPTIN2, SEPTIN6, SEPTIN7, SEPTIN11 and SEPTIN14. 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 SEPTIN4.
    SequenceCaution:
    • Sequence=BAB14057.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SEPTIN9 Gene

    Alternative splice isoforms for SEPTIN9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEPTIN9 Gene

Post-translational modifications for SEPTIN9 Gene

  • Ubiquitination at Lys262, Lys271, Lys186, Lys326, Lys343, Lys352, Lys357, Lys381, Lys389, Lys431, Lys435, Lys445, Lys476, Lys490, Lys511, Lys519, and Lys549
  • Modification sites at PhosphoSitePlus

Other Protein References for SEPTIN9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SEPTIN9 Gene

Domains & Families for SEPTIN9 Gene

Gene Families for SEPTIN9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SEPTIN9 Gene

InterPro:
Blocks:
  • Cell division/GTP binding protein
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9UHD8

UniProtKB/Swiss-Prot:

SEPT9_HUMAN :
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
Family:
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
genes like me logo Genes that share domains with SEPTIN9: view

No data available for Suggested Antigen Peptide Sequences for SEPTIN9 Gene

Function for SEPTIN9 Gene

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Molecular function for SEPTIN9 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for SEPTIN9 Gene

Gene Ontology (GO) - Molecular Function for SEPTIN9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity TAS,IBA 21873635
GO:0005515 protein binding IPI 15485874
GO:0005525 GTP binding IEA --
GO:0045296 cadherin binding HDA 25468996
genes like me logo Genes that share ontologies with SEPTIN9: view
genes like me logo Genes that share phenotypes with SEPTIN9: view

Human Phenotype Ontology for SEPTIN9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SEPTIN9 Gene

MGI Knock Outs for SEPTIN9:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPTIN9

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SEPTIN9 Gene

Localization for SEPTIN9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPTIN9 Gene

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SEPTIN9 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
plasma membrane 2
extracellular 2
mitochondrion 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SEPTIN9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IDA 15485874
GO:0005737 cytoplasm TAS 10339604
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IDA 15485874
GO:0005930 axoneme IDA 23572511
genes like me logo Genes that share ontologies with SEPTIN9: view

Pathways & Interactions for SEPTIN9 Gene

PathCards logo

SuperPathways for SEPTIN9 Gene

genes like me logo Genes that share pathways with SEPTIN9: view

Pathways by source for SEPTIN9 Gene

2 KEGG pathways for SEPTIN9 Gene
2 Qiagen pathways for SEPTIN9 Gene
  • Rho Family GTPases
  • RhoA Pathway

SIGNOR curated interactions for SEPTIN9 Gene

Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SEPTIN9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0034613 cellular protein localization IBA 21873635
GO:0051301 cell division IEA --
GO:0061640 cytoskeleton-dependent cytokinesis IBA 21873635
GO:1902857 positive regulation of non-motile cilium assembly IMP 23572511
genes like me logo Genes that share ontologies with SEPTIN9: view

Drugs & Compounds for SEPTIN9 Gene

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(1) Additional Compounds for SEPTIN9 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SEPTIN9: view

Transcripts for SEPTIN9 Gene

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mRNA/cDNA for SEPTIN9 Gene

11 REFSEQ mRNAs :
38 NCBI additional mRNA sequence :
48 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPTIN9

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for SEPTIN9 Gene

No ASD Table

Relevant External Links for SEPTIN9 Gene

GeneLoc Exon Structure for
SEPTIN9

Expression for SEPTIN9 Gene

Products:

  1. Primer products for research

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEPTIN9

SOURCE GeneReport for Unigene cluster for SEPTIN9 Gene:

Hs.440932

mRNA Expression by UniProt/SwissProt for SEPTIN9 Gene:

Q9UHD8-SEPT9_HUMAN
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.

Evidence on tissue expression from TISSUES for SEPTIN9 Gene

  • Nervous system(5)
  • Skin(4.8)
  • Eye(4.6)
  • Liver(4.5)
  • Lung(4.1)
  • Intestine(4)
  • Pancreas(3.6)
  • Blood(3.4)
  • Lymph node(2.9)
  • Kidney(2.8)
  • Spleen(2.5)
  • Stomach(2.5)
  • Gall bladder(2.3)
  • Bone marrow(2.3)
  • Muscle(2.2)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SEPTIN9 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • lip
  • mouth
  • nose
  • outer ear
  • skull
Thorax:
  • scapula
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for SEPTIN9 Gene

Orthologs for SEPTIN9 Gene

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

Orthologs for SEPTIN9 Gene

Organism Taxonomy Gene Similarity Type Details
Cow
(Bos Taurus)
 Mammalia SEPT9 30 31
  • 90.43 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia SEPT9 31
  • 90 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SEPT9 30 31
  • 89.83 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Sept9 30 31
  • 86.6 (n)
 OneToOne
Septin9 17
Rat
(Rattus norvegicus)
 Mammalia Sept9 30
  • 86.48 (n)
Oppossum
(Monodelphis domestica)
 Mammalia SEPT9 31
  • 80 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves SEPT9 30 31
  • 76.96 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SEPT9 31
  • 68 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia sept9 30
  • 69.65 (n)
Str.14028 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.8325 30
Zebrafish
(Danio rerio)
 Actinopterygii sept9b 31
  • 79 (a)
 OneToMany
sept9a 30 31
  • 64.34 (n)
 OneToMany
msf 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.6451 30
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AAR001C 30
  • 57.83 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F12848g 30
  • 53.94 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes CDC10 30
  • 50.93 (n)
CDC3 31
  • 27 (a)
 OneToMany
Bread mold
(Neurospora crassa)
 Ascomycetes NCU03515 30
  • 61.37 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.8439 31
  • 54 (a)
 OneToMany
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes spn2 30
  • 52.06 (n)
Species where no ortholog for SEPTIN9 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SEPTIN9 Gene

ENSEMBL:
Gene Tree for SEPTIN9 (if available)
TreeFam:
Gene Tree for SEPTIN9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEPTIN9: view image

Paralogs for SEPTIN9 Gene

Paralogs for SEPTIN9 Gene

Pseudogenes.org Pseudogenes for SEPTIN9 Gene

genes like me logo Genes that share paralogs with SEPTIN9: view

Variants for SEPTIN9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEPTIN9 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
870683 Uncertain Significance: not provided 77,482,182(+) G/A
NM_001113491.2(SEPTIN9):c.760G>A (p.Asp254Asn) 		MISSENSE
889037 Uncertain Significance: Amyotrophy, hereditary neuralgic 77,319,518(+) C/G
NM_001113491.2(SEPTIN9):c.76+12321C>G 		FIVE_PRIME_UTR_VARIANT,INTRON
889088 Uncertain Significance: Amyotrophy, hereditary neuralgic 77,482,224(+) C/T
NM_001113491.2(SEPTIN9):c.802C>T (p.Arg268Trp) 		MISSENSE
889089 Benign: Amyotrophy, hereditary neuralgic 77,482,329(+) G/A
NM_001113491.2(SEPTIN9):c.907G>A (p.Val303Met) 		MISSENSE
889166 Benign: Amyotrophy, hereditary neuralgic 77,498,660(+) C/T
NM_001113491.2(SEPTIN9):c.*2C>T 		THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SEPTIN9 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SEPTIN9 Gene

Variant ID Type Subtype PubMed ID
dgv1513n106 CNV deletion 24896259
dgv3284n100 CNV gain 25217958
dgv569e199 CNV deletion 23128226
dgv5787n54 CNV loss 21841781
esv1001835 CNV loss 20482838
esv1080795 CNV deletion 17803354
esv1440775 CNV deletion 17803354
esv2378475 CNV deletion 18987734
esv2670792 CNV deletion 23128226
esv2716278 CNV deletion 23290073
esv2716279 CNV deletion 23290073
esv2716280 CNV deletion 23290073
esv2716281 CNV deletion 23290073
esv2758704 CNV gain 17122850
esv3114 CNV loss 18987735
esv3410970 CNV duplication 20981092
esv34174 CNV loss 18971310
esv34184 CNV loss 18971310
esv3443126 CNV duplication 20981092
esv3449329 CNV insertion 20981092
esv3554818 CNV deletion 23714750
esv3641312 CNV loss 21293372
esv3641313 CNV loss 21293372
esv3641314 CNV loss 21293372
esv3641315 CNV gain 21293372
esv9370 CNV gain 19470904
esv992724 CNV deletion 20482838
esv996321 CNV deletion 20482838
nsv1071803 CNV deletion 25765185
nsv1072753 CNV deletion 25765185
nsv111673 CNV deletion 16902084
nsv1138583 CNV deletion 24896259
nsv1144816 CNV deletion 24896259
nsv1150551 CNV insertion 26484159
nsv1154143 CNV deletion 26484159
nsv2150 CNV insertion 18451855
nsv457914 CNV loss 19166990
nsv457915 CNV gain 19166990
nsv472475 CNV novel sequence insertion 20440878
nsv513483 CNV insertion 21212237
nsv517339 CNV loss 19592680
nsv525375 CNV loss 19592680
nsv525851 CNV loss 19592680
nsv526477 CNV loss 19592680
nsv576077 CNV loss 21841781
nsv576091 CNV loss 21841781
nsv576092 CNV gain 21841781
nsv833551 CNV gain 17160897
nsv833552 CNV loss 17160897

Variation tolerance for SEPTIN9 Gene

Residual Variation Intolerance Score: 25.7% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEPTIN9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEPTIN9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEPTIN9 Gene

Disorders for SEPTIN9 Gene

MalaCards: The human disease database

(13) MalaCards diseases for SEPTIN9 Gene - From: CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
amyotrophy, hereditary neuralgic
  • hna
brachial plexus neuropathy
  • brachial plexopathy
amyotrophic neuralgia
  • neuralgic amyotrophy
brachial plexus neuritis
  • brachial neuritis
neuropathy
  • peripheral neuropathy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SEPT9_HUMAN
  • Note=A chromosomal aberration involving SEPTIN9/MSF is found in therapy-related acute myeloid leukemia (t-AML). Translocation t(11;17)(q23;q25) with KMT2A/MLL1. {ECO:0000269 PubMed:10339604}.
  • Hereditary neuralgic amyotrophy (HNA) [MIM:162100]: 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. {ECO:0000269 PubMed:16186812, ECO:0000269 PubMed:17546647, ECO:0000269 PubMed:18492087, ECO:0000269 PubMed:19451530}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for SEPTIN9

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SEPTIN9: view

No data available for Genatlas for SEPTIN9 Gene

Publications for SEPTIN9 Gene

  1. SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy. (PMID: 19451530) Hannibal MC … Chance PF (Neurology 2009) 3 4 23 74
  2. Mutations in SEPT9 cause hereditary neuralgic amyotrophy. (PMID: 16186812) Kuhlenbäumer G … Chance PF (Nature genetics 2005) 3 4 23 74
  3. 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). (PMID: 10339604) Osaka M … Zeleznik-Le NJ (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 23
  4. Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation--a family study. (PMID: 18492087) Laccone F … Rehder H (Clinical genetics 2008) 3 4 23
  5. Characterization of a SEPT9 interacting protein, SEPT14, a novel testis-specific septin. (PMID: 17922164) Peterson EA … Petty EM (Mammalian genome : official journal of the International Mammalian Genome Society 2007) 3 4 23

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