SEPTIN7 (septin 7)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
989
Gene name Gene Name - the full gene name approved by the HGNC.
Septin 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SEPTIN7
Synonyms (NCBI Gene) Gene synonyms aliases
CDC10, CDC3, NBLA02942, SEPT7, SEPT7A, Septin-7
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p14.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that is highly similar to the CDC10 protein of Saccharomyces cerevisiae. The protein also shares similarity with Diff 6 of Drosophila and with H5 of mouse. Each of these similar proteins, including the yeast CDC10, contains a G
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(43)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000776 Component Kinetochore IEA
GO:0001725 Component Stress fiber IDA 15485874
GO:0003924 Function GTPase activity IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603151 1717 ENSG00000122545
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q16181
Protein name Septin-7 (CDC10 protein homolog)
Protein function Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Required for normal progress through mitosis. Involved in cytokinesis. Required for normal association of CENPE with the kinetochore. Plays a role
PDB 2QAG , 3T5D , 3TW4 , 6N0B , 6N12 , 6UQQ , 7M6J , 8SJJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00735 Septin 47 → 323 Septin Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:15915442}.
Sequence
Sequence length 437
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Shigellosis   MAPK6/MAPK4 signaling
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
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
Endometriosis Endometriosis N/A N/A GWAS
Show/Hide Text Mining Associations (17)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Asthenozoospermia Associate 25301271
Astrocytoma Inhibit 23383034
Breast Neoplasms Associate 27557506
Carcinogenesis Associate 23383034
Carcinoma Ductal Breast Associate 32156290
Carcinoma Intraductal Noninfiltrating Associate 32156290
Carcinoma Renal Cell Associate 27144525
Cystic Fibrosis Associate 38636185
Glioma Associate 23383034
Hereditary Breast and Ovarian Cancer Syndrome Associate 27557506