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SEPTIN9 (septin 9)
Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10801
Gene nameGene Name - the full gene name approved by the HGNC.
Septin 9
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SEPTIN9
SynonymsGene synonyms aliases
AF17q25, MSF, MSF1, NAPB, PNUTL4, SEPT9, SINT1, SeptD1
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.3
SummarySummary of gene provided in NCBI Entrez 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 p
SNPsSNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs80338760 G>C Pathogenic Intron variant, genic upstream transcript variant, 5 prime UTR variant
rs80338761 C>T Pathogenic 5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant
rs80338762 C>T Pathogenic 5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0001725 Component Stress fiber IDA 15485874
GO:0003924 Function GTPase activity IBA 21873635
GO:0005515 Function Protein binding IPI 15485874, 16007136, 16424018, 17922164, 19145258, 25416956
GO:0005525 Function GTP binding IEA
GO:0005737 Component Cytoplasm TAS 10339604
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9UHD8
Protein name Septin-9 (MLL septin-like fusion protein MSF-A) (MLL septin-like fusion protein) (Ovarian/Breast septin) (Ov/Br septin) (Septin D1)
Protein 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. {ECO:0000250, ECO:0000
PDB 4YQF , 5CYO , 5CYP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00735 Septin
295 → 574
Septin
 Domain
Sequence 
MKKSYSGGTRTSSGRLRRLGDSSGPALKRSFEVEEVETPNSTPPRRVQTPLLRATVASST
QKFQDLGVKNSEPSARHVDSLSQRSPKASLRRVELSGPKAAEPVSRRTELSIDISSKQVE
NAGAIGPSRFGLKRAEVLGHKTPEPAPRRTEITIVKPQESAHRRMEPPASKVPEVPTAPA
TDAAPKRVEIQMPKPAEAPTAPSPAQTLENSEPAPVSQLQSRLEPKPQPPVAEATPRSQE
ATEAAPSCVGDMADTPRDAGLKQAPASRNEKAPVDFGYVGIDSILEQMRRKAMKQGFEFN
IMVVGQSGLGKSTLINTLFKSKISRKSVQPTSEERIPKTIEIKSITHDIEEKGVRMKLTV
IDTPGFGDHINNENCWQPIMKFINDQYEKYLQEEVNINRKKRIPDTRVHCCLYFIPATGH
SLRPLDIEFMKRLSKVVNIVPVIAKADTLTLEERVHFKQRITADLLSNGIDVYPQKEFDE
DSEDRLVNEKFREMIPFAVVGSDHEYQVNGKRILGRKTKWGTIEVENTTHCEFAYLRDLL
IRTHMQNIKDITSSIHFEAYRVKRLNEGSSAMANGMEEKEPEAPEM
Sequence length 586
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
  Bacterial invasion of epithelial cells
Shigellosis 		 
Associated diseases
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Leukemia Leukemia, Myelocytic, Acute, Acute Myeloid Leukemia (AML-M2) rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601 27903959, 10339604, 10339604
Myocardial infarction Myocardial Infarction rs12316150, rs41303970, rs909253, rs7291467, rs2234693 21211798
Polyneuropathy Polyneuropathy rs1597597437
Unknown
Disease name Disease term dbSNP ID References
Blepharophimosis Blepharophimosis
Brachial plexus neuralgia Brachial Neuralgia, Brachial Plexus Neuritis 17546647
Brachial plexus neuropathy Brachial Plexus Neuropathies
Cardiovascular diseases Cardiovascular Diseases 30595370

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