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 name Gene Name - the full gene name approved by the HGNC.
Septin 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SEPTIN9
Synonyms (NCBI Gene) Gene synonyms aliases
AF17q25, MSF, MSF1, NAPB, PNUTL4, SEPT9, SINT1, SeptD1
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.3
Summary Summary 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
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
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
Show/Hide all(32)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001725 Component Stress fiber IDA 15485874
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity TAS 10339604
GO:0005515 Function Protein binding IPI 15485874, 16007136, 16424018, 17922164, 19145258, 25416956, 32296183, 33961781, 35271311, 35309913
Other IDs Other 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
604061 7323 ENSG00000184640
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
Tissue specificity 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 th
Sequence 
MKKSYSGGTRTSSGRLRRLGDSSGPALKRSFEVEEVETPNSTPPRRVQTPLLRATVASST
QKFQDLGVKNSEPSARHVDSLSQRSPKASLRRVELSGPKAAEPVSRRTELSIDISSKQVE
NAGAIGPSRFGLKRAEVLGHKTPEPAPRRTEITIVKPQESAHRRMEPPASKVPEVPTAPA
TDAAPKRVEIQMPKPAEAPTAPSPAQTLENSEPAPVSQLQSRLEPKPQPPVAEATPRSQE
ATEAAPSCVGDMADTPRDAGLKQAPASRNEKAPVDFGYVGIDSILEQMRRKAMKQGFEFN
IMVVGQSGLGKSTLINTLFKSKISRKSVQPTSEERIPKTIEIKSITHDIEEKGVRMKLTV
IDTPGFGDHINNENCWQPIMKFINDQYEKYLQEEVNINRKKRIPDTRVHCCLYFIPATGH
SLRPLDIEFMKRLSKVVNIVPVIAKADTLTLEERVHFKQRITADLLSNGIDVYPQKEFDE
DSEDRLVNEKFREMIPFAVVGSDHEYQVNGKRILGRKTKWGTIEVENTTHCEFAYLRDLL
IRTHMQNIKDITSSIHFEAYRVKRLNEGSSAMANGMEEKEPEAPEM
Sequence length 586
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Bacterial invasion of epithelial cells
Shigellosis 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (8)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease, charcot-marie-tooth disease type 4 N/A N/A ClinVar
Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type I N/A N/A ClinVar
Diabetes Type 2 diabetes N/A N/A GWAS
Gout Gout N/A N/A GWAS
Show/Hide Text Mining Associations (73)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 21267688, 38644767
Adenocarcinoma of Lung Associate 34854250
Adenoma Associate 22019796, 22168215, 25526039, 27660666, 28035516, 31407497, 36203138
Adenoma Inhibit 23988185
Ascites Associate 26937257
Biliary Tract Neoplasms Associate 27999621
Blood Platelet Disorders Associate 30019529
Brachial Plexus Neuritis Associate 19139049, 19204161, 19451530, 23042485, 30019529, 32122354, 37587058, 39428775
Brain Neoplasms Associate 32361006
Breast Neoplasms Associate 28338090, 31285548, 34409731, 38180895