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Aliases for SEPT9 Gene

Aliases for SEPT9 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
  • MSF 3 4
  • MLL Septin-Like Fusion Protein 4
  • MLL Septin-Like Fusion 2
  • Septin-9 3
  • KIAA0991 4
  • AF17q25 3
  • PNUTL4 3
  • SeptD1 3
  • SINT1 3
  • NAPB 3
  • MSF1 3

External Ids for SEPT9 Gene

Previous HGNC Symbols for SEPT9 Gene

  • MSF

Previous GeneCards Identifiers for SEPT9 Gene

  • GC17P072790
  • GC17P075277
  • GC17P070710

Summaries for SEPT9 Gene

Entrez Gene Summary for SEPT9 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 SEPT9 Gene

SEPT9 (Septin 9) is a Protein Coding gene. Diseases associated with SEPT9 include Amyotrophy, Hereditary Neuralgic and Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome. Among its related pathways are Actin Nucleation by ARP-WASP Complex and Bacterial invasion of epithelial cells. GO annotations related to this gene include nucleotide binding and GTPase activity. An important paralog of this gene is SEPT3.

UniProtKB/Swiss-Prot for SEPT9 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 SEPT9 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEPT9 Gene

Genomics for SEPT9 Gene

Regulatory Elements for SEPT9 Gene

Enhancers for SEPT9 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around SEPT9 on UCSC Golden Path with GeneCards custom track

Promoters for SEPT9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SEPT9 on UCSC Golden Path with GeneCards custom track

Genomic Location for SEPT9 Gene

Chromosome:
17
Start:
77,280,569 bp from pter
End:
77,500,596 bp from pter
Size:
220,028 bases
Orientation:
Plus strand

Genomic View for SEPT9 Gene

Genes around SEPT9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEPT9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPT9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPT9 Gene

Proteins for SEPT9 Gene

  • Protein details for SEPT9 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 SEPT9 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 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.
    SequenceCaution:
    • Sequence=BAB14057.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SEPT9 Gene

    Alternative splice isoforms for SEPT9 Gene

neXtProt entry for SEPT9 Gene

Post-translational modifications for SEPT9 Gene

  • Ubiquitination at Lys 186, Lys 262, Lys 271, Lys 326, Lys 343, Lys 352, Lys 357, Lys 381, Lys 389, Lys 431, Lys 435, Lys 445, Lys 476, Lys 490, Lys 511, Lys 519, and Lys 549
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for SEPT9 Gene

Domains & Families for SEPT9 Gene

Gene Families for SEPT9 Gene

Protein Domains for SEPT9 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UHD8

UniProtKB/Swiss-Prot:

SEPT9_HUMAN :
  • Contains 1 septin-type G (guanine nucleotide-binding) domain.
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
Domain:
  • Contains 1 septin-type G (guanine nucleotide-binding) domain.
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 SEPT9: view

No data available for Suggested Antigen Peptide Sequences for SEPT9 Gene

Function for SEPT9 Gene

Molecular function for SEPT9 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.

Gene Ontology (GO) - Molecular Function for SEPT9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity TAS 10339604
GO:0005515 protein binding IPI 15485874
GO:0005525 GTP binding IEA --
GO:0098641 cadherin binding involved in cell-cell adhesion IDA 25468996
genes like me logo Genes that share ontologies with SEPT9: view
genes like me logo Genes that share phenotypes with SEPT9: view

Human Phenotype Ontology for SEPT9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SEPT9 Gene

MGI Knock Outs for SEPT9:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SEPT9 Gene

Localization for SEPT9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPT9 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
Jensen Localization Image for SEPT9 Gene COMPARTMENTS Subcellular localization image for SEPT9 gene
Compartment Confidence
cytoskeleton 4
nucleus 3
cytosol 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SEPT9 Gene

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:0005913 cell-cell adherens junction IDA 25468996
GO:0005930 axoneme IDA 23572511
genes like me logo Genes that share ontologies with SEPT9: view

Pathways & Interactions for SEPT9 Gene

genes like me logo Genes that share pathways with SEPT9: view

Pathways by source for SEPT9 Gene

1 KEGG pathway for SEPT9 Gene
2 Qiagen pathways for SEPT9 Gene

SIGNOR curated interactions for SEPT9 Gene

Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SEPT9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0051291 protein heterooligomerization IDA 15485874
GO:0051301 cell division IEA --
GO:0098609 cell-cell adhesion IEA --
GO:1902857 positive regulation of nonmotile primary cilium assembly IMP 23572511
genes like me logo Genes that share ontologies with SEPT9: view

Drugs & Compounds for SEPT9 Gene

(1) Additional Compounds for SEPT9 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SEPT9: view

Transcripts for SEPT9 Gene

mRNA/cDNA for SEPT9 Gene

Unigene Clusters for SEPT9 Gene

Septin 9:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SEPT9 Gene

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: - - -
SP6:
SP7:
SP8:
SP9:
SP10: - - - - - - - - - -
SP11: - - - - - - - - - - - - - - -
SP12:
SP13:
SP14:
SP15:
SP16:
SP17: - - - - - - - - - - - - - - - - - - -
SP18: - - - - - - - - - - - - - -
SP19: - - - - - - - - - - - - - - -
SP20: - - - - - - - - - - - - - - - - - - - -
SP21:
SP22:
SP23: - - - - - - - - - - - - - - - - - - - - - - -
SP24: - - - - - - - - -
SP25: - - - - - -
SP26: - - - - - -
SP27: - - - - - - - - - - - - - - - - - - -
SP28:
SP29:
SP30:
SP31:
SP32: - - - - - - - - - - - - - - - - - - - - - -
SP33: - - - - - - - - - -
SP34: - - - -
SP35: - - - - - - - - - - - - - - - - -
SP36: - -
SP37: -

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: - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - - -
SP7: - - - - - - - -
SP8:
SP9: - - -
SP10: - - - - - - - - - - - - - - - - - - -
SP11: - - - - - - - - - - - - - - - - - - - - - - - - -
SP12: - - - - - - - - - - -
SP13: - - - - - - -
SP14: -
SP15:
SP16:
SP17: - -
SP18: - -
SP19: - - - - - - - - - - - - - - - - - - - - - - - - - -
SP20: - -
SP21: - - - - - - -
SP22: - - -
SP23: - -
SP24: - - - - - - - - - - - - - - - - - - - - - - - - - -
SP25: - -
SP26: - - - - - - - - - - - - - -
SP27: - -
SP28: -
SP29:
SP30: - -
SP31:
SP32: - -
SP33: - - - - -
SP34: - -
SP35: - -
SP36: - -
SP37: - -

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: - - - -
SP6: - - - -
SP7: - - - -
SP8: - -
SP9: - -
SP10: - - - - - -
SP11: - - -
SP12: - -
SP13: - -
SP14: - -
SP15:
SP16: -
SP17:
SP18:
SP19: - -
SP20:
SP21: - -
SP22: - -
SP23:
SP24: - - - - - - - - - - - - - -
SP25:
SP26: - -
SP27:
SP28:
SP29:
SP30: - -
SP31:
SP32:
SP33:
SP34:
SP35:
SP36:
SP37:

Relevant External Links for SEPT9 Gene

GeneLoc Exon Structure for
SEPT9
ECgene alternative splicing isoforms for
SEPT9

Expression for SEPT9 Gene

mRNA expression in normal human tissues for SEPT9 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SEPT9 Gene



Protein tissue co-expression partners for SEPT9 Gene

- Elite partner

SOURCE GeneReport for Unigene cluster for SEPT9 Gene:

Hs.440932

mRNA Expression by UniProt/SwissProt for SEPT9 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.
genes like me logo Genes that share expression patterns with SEPT9: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein differential expression in normal tissues for SEPT9 Gene

Orthologs for SEPT9 Gene

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

Orthologs for SEPT9 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SEPT9 34
  • 90.43 (n)
  • 92.82 (a)
SEPT9 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEPT9 34
  • 89.83 (n)
  • 92.65 (a)
SEPT9 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sept9 34
  • 86.6 (n)
  • 90.72 (a)
Sept9 16
Sept9 35
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sept9 34
  • 86.48 (n)
  • 90.13 (a)
oppossum
(Monodelphis domestica)
Mammalia SEPT9 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SEPT9 35
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEPT9 34
  • 76.96 (n)
  • 80.61 (a)
SEPT9 35
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SEPT9 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sept9 34
  • 69.65 (n)
  • 72.58 (a)
Str.14028 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.8325 34
zebrafish
(Danio rerio)
Actinopterygii msf 34
sept9a 34
  • 64.34 (n)
  • 64.87 (a)
sept9a 35
  • 55 (a)
OneToMany
sept9b 35
  • 79 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6451 34
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR001C 34
  • 57.83 (n)
  • 48.66 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F12848g 34
  • 53.94 (n)
  • 49.65 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC10 34
  • 50.93 (n)
  • 47.22 (a)
CDC3 35
  • 27 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU03515 34
  • 61.37 (n)
  • 51.35 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes spn2 34
  • 52.06 (n)
  • 48.38 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8439 35
  • 54 (a)
OneToMany
Species where no ortholog for SEPT9 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 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 SEPT9 Gene

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

Paralogs for SEPT9 Gene

genes like me logo Genes that share paralogs with SEPT9: view

Variants for SEPT9 Gene

Sequence variations from dbSNP and Humsavar for SEPT9 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs202079794 - 77,402,208(+) CGGCC(C/T)GCCAT reference, missense, utr-variant-5-prime
rs34587622 - 77,402,416(+) AGAAC(C/G/T)GGCCC reference, missense, utr-variant-5-prime
rs2627223 - 77,498,623(-) CTCCA(C/T)GCCGT reference, missense
rs80338761 Hereditary neuralgic amyotrophy (HNA) 77,402,298(+) TGTCC(C/T)GGCGC reference, missense, utr-variant-5-prime
rs80338762 Hereditary neuralgic amyotrophy (HNA) 77,402,314(+) GCTGT(C/T)CATTG reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for SEPT9 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 SEPT9 Gene

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

Relevant External Links for SEPT9 Gene

Human Gene Mutation Database (HGMD)
SEPT9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEPT9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEPT9 Gene

Disorders for SEPT9 Gene

MalaCards: The human disease database

(8) MalaCards diseases for SEPT9 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
amyotrophy, hereditary neuralgic
  • hereditary neuralgic amyotrophy
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • camptodactyly arthropathy coxa vara pericarditis syndrome
brachial plexus neuropathy
  • brachial plexopathy
acute myelomonocytic leukemia
  • aml-m4
amyotrophic neuralgia
  • neuralgic amyotrophy
- elite association - COSMIC cancer census association via MalaCards
Search SEPT9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SEPT9_HUMAN
  • 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 mutations affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving SEPT9/MSF is found in therapy-related acute myeloid leukemia (t-AML). Translocation t(11;17)(q23;q25) with KMT2A/MLL1. {ECO:0000269 PubMed:10339604}.

Relevant External Links for SEPT9

Genetic Association Database (GAD)
SEPT9
Human Genome Epidemiology (HuGE) Navigator
SEPT9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEPT9
genes like me logo Genes that share disorders with SEPT9: view

No data available for Genatlas for SEPT9 Gene

Publications for SEPT9 Gene

  1. 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 N.J. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 22 65
  2. SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy. (PMID: 19451530) Hannibal M.C. … Chance P.F. (Neurology 2009) 3 4 22 65
  3. Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation -- a family study. (PMID: 18492087) Laccone F. … Rehder H. (Clin. Genet. 2008) 3 4 22 65
  4. Characterization of a SEPT9 interacting protein, SEPT14, a novel testis-specific septin. (PMID: 17922164) Peterson E.A. … Petty E.M. (Mamm. Genome 2007) 3 4 22 65
  5. Mutations in SEPT9 cause hereditary neuralgic amyotrophy. (PMID: 16186812) Kuhlenbaeumer G. … Chance P.F. (Nat. Genet. 2005) 3 4 22 65

Products for SEPT9 Gene

Sources for SEPT9 Gene

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