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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 Brachial Plexus Neuropathy. Among its related pathways are ERK Signaling and Bacterial invasion of epithelial cells. Gene Ontology (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

Additional gene information for SEPT9 Gene

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

Genomics for SEPT9 Gene

GeneHancer (GH) Regulatory Elements for SEPT9 Gene

Promoters and enhancers for SEPT9 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
GH17I077318 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 597.7 +42.7 42669 10.3 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A YBX1 IRF4 YY1 SEPT9 SRSF2 ENSG00000267546 METTL23 MFSD11 ENSG00000200651 MGAT5B LOC105371907 ENSG00000266998
GH17I077279 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 554.8 +4.2 4219 11 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 SP3 NFYC SEPT9 LOC105371907 ENSG00000266998
GH17I077449 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 573 +178.2 178182 19.5 HDGF PKNOX1 FOXA2 SMAD1 MLX ARID4B SIN3A DMAP1 IRF4 YY1 SEPT9 SRSF2 METTL23 MFSD11 SNHG20 SEC14L1 LOC105371903 ENSG00000279801
GH17I077370 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 564.7 +94.2 94192 8.2 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF416 SEPT9 SRSF2 ENSG00000267546 ENSG00000272386 ENSG00000266998 METTL23 ENSG00000267543 MFSD11 PRPSAP1 SNHG20
GH17I077402 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.1 +127.6 127607 11.3 HDGF PKNOX1 FOXA2 ZSCAN4 BATF IRF4 RAD21 ZBTB40 YY1 SCRT2 GC17M077408 SEPT9 ENSG00000266998 GC17P077404
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SEPT9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SEPT9 gene promoter:

Genomic Locations for SEPT9 Gene

Genomic Locations for SEPT9 Gene
chr17:77,280,569-77,500,596
(GRCh38/hg38)
Size:
220,028 bases
Orientation:
Plus strand
chr17:75,276,651-75,496,678
(GRCh37/hg19)

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 posLast=186186, posLast=262262, isoforms=2, 3, 4, 5, 7, 8, 9271, isoforms=2, 3, 4, 5, 7, 8, 9326, isoforms=2, 3, 4, 5, 7, 8, 9343, isoforms=2, 3, 4, 5, 7, 8, 9352, posLast=357357, posLast=381381, isoforms=2, 3, 4, 5, 7, 8, 9389, posLast=431431, posLast=435435, posLast=445445, isoforms=2, 3, 4, 5, 7, 8, 9476, isoforms=2, 3, 4, 5, 7, 8, 9490, isoforms=2, 3, 4, 5, 7, 8, 9511, posLast=519519, and isoforms=2, 3, 4, 5, 7, 8, 9549

No data available for DME Specific Peptides for SEPT9 Gene

Domains & Families for SEPT9 Gene

Gene Families for SEPT9 Gene

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

Protein Domains for SEPT9 Gene

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 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.

Phenotypes From GWAS Catalog for SEPT9 Gene

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:0045296 cadherin binding 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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SEPT9

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
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 SEPT9 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
mitochondrion 1
cytosol 1

Subcellular locations from the

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

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:0005856 cytoskeleton IEA --
GO:0005874 microtubule IDA 15485874
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:1902857 positive regulation of non-motile 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

Unigene Clusters for SEPT9 Gene

Septin 9:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SEPT9

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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.

Evidence on tissue expression from TISSUES for SEPT9 Gene

  • Nervous system(5)
  • Skin(4.7)
  • Eye(4.6)
  • Liver(4.3)
  • Intestine(3.8)
  • Lung(3.8)
  • Pancreas(3.2)
  • Blood(3.1)
  • Kidney(2.3)
  • Lymph node(2.1)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SEPT9 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
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
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 33 34
  • 90.43 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SEPT9 34
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEPT9 33 34
  • 89.83 (n)
mouse
(Mus musculus)
Mammalia Sept9 33 16 34
  • 86.6 (n)
rat
(Rattus norvegicus)
Mammalia Sept9 33
  • 86.48 (n)
oppossum
(Monodelphis domestica)
Mammalia SEPT9 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEPT9 33 34
  • 76.96 (n)
lizard
(Anolis carolinensis)
Reptilia SEPT9 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sept9 33
  • 69.65 (n)
Str.14028 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.8325 33
zebrafish
(Danio rerio)
Actinopterygii sept9b 34
  • 79 (a)
OneToMany
sept9a 33 34
  • 64.34 (n)
msf 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6451 33
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR001C 33
  • 57.83 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F12848g 33
  • 53.94 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC10 33
  • 50.93 (n)
CDC3 34
  • 27 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU03515 33
  • 61.37 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8439 34
  • 54 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes spn2 33
  • 52.06 (n)
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

Variants for SEPT9 Gene

Sequence variations from dbSNP and Humsavar for SEPT9 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1059485 benign, Hereditary Neuralgic Amyotrophy (HNA) 77,498,664(+) A/C/G 3_prime_UTR_variant
rs114550498 benign, Hereditary Neuralgic Amyotrophy (HNA) 77,487,562(+) C/T intron_variant
rs11537705 benign, Hereditary Neuralgic Amyotrophy (HNA) 77,498,698(+) A/T 3_prime_UTR_variant
rs11537706 uncertain-significance, Hereditary Neuralgic Amyotrophy (HNA) 77,402,184(+) G/A/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs116655270 benign, Hereditary Neuralgic Amyotrophy (HNA) 77,499,613(+) C/T 3_prime_UTR_variant

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)

Additional Variant Information 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

(5) MalaCards diseases for SEPT9 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
amyotrophy, hereditary neuralgic
  • hna
brachial plexus neuropathy
  • brachial plexopathy
amyotrophic neuralgia
  • neuralgic amyotrophy
brachial plexus neuritis
  • brachial neuritis
cri-du-chat syndrome
  • cat cry syndrome
- 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}.

Additional Disease Information for SEPT9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology