SEPTIN14 (septin 14)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
346288
Gene name Gene Name - the full gene name approved by the HGNC.
Septin 14
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SEPTIN14
Synonyms (NCBI Gene) Gene synonyms aliases
SEPT14, Septin-14
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
SEPT14 is a member of the highly conserved septin family of GTP-binding cytoskeletal proteins implicated in membrane transport, apoptosis, cell polarity, cell cycle regulation, cytokinesis, and other cellular functions (Peterson et al., 2007 [PubMed 17922
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(10)
GO ID Ontology Definition Evidence Reference
GO:0003924 Function GTPase activity IBA 21873635
GO:0005515 Function Protein binding IPI 17922164, 32296183
GO:0005525 Function GTP binding IEA
GO:0005940 Component Septin ring IBA 21873635
GO:0015630 Component Microtubule cytoskeleton IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
612140 33280 ENSG00000154997
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q6ZU15
Protein name Septin-14
Protein function Filament-forming cytoskeletal GTPase (Probable). Involved in the migration of cortical neurons and the formation of neuron leading processes during embryonic development (By similarity). Plays a role in sperm head formation during spermiogenesis
PDB 8SJJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00735 Septin 49 → 321 Septin Domain
Tissue specificity TISSUE SPECIFICITY: Testis-specific (at protein level). {ECO:0000269|PubMed:17922164, ECO:0000269|PubMed:32249155}.
Sequence
Sequence length 432
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Glioblastoma Glioblastoma, Glioblastoma Multiforme rs121913500, rs886042842, rs1555138291, rs1558518449, rs1567176006, rs1558650888 23917401
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Alzheimer disease Alzheimer disease GWAS
Show/Hide Text Mining Associations (6)
Associations from Text Mining
Disease Name Relationship Type References
Colonic Neoplasms Associate 32162810
Colorectal Neoplasms Associate 32162810
Diabetes Mellitus Type 2 Associate 37033211
Glioblastoma Associate 23917401, 36002559
Mammary Analogue Secretory Carcinoma Associate 31502214
Secretory breast carcinoma Associate 31502214