SEPTIN14 (septin 14)

Gene

• Entrez ID: 346288
• Gene name: Septin 14
• Gene symbol: SEPTIN14
• Synonyms (NCBI Gene): SEPT14, Septin-14
• Chromosome: 7
• Chromosome location: 7p11.2
• Summary: 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)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001669	Component	Acrosomal vesicle	IDA	32249155
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0001764	Process	Neuron migration	ISS
GO:0003924	Function	GTPase activity	IBA
GO:0005515	Function	Protein binding	IPI	17922164, 32296183, 33228246
GO:0005525	Function	GTP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005856	Component	Cytoskeleton	IDA	31450874
GO:0005856	Component	Cytoskeleton	IEA
GO:0005940	Component	Septin ring	IBA
GO:0007286	Process	Spermatid development	IMP	33228246
GO:0008104	Process	Intracellular protein localization	IBA
GO:0015630	Component	Microtubule cytoskeleton	IBA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0031105	Component	Septin complex	IBA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032153	Component	Cell division site	IBA
GO:0042995	Component	Cell projection	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0043204	Component	Perikaryon	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0051301	Process	Cell division	IEA
GO:0060090	Function	Molecular adaptor activity	IBA
GO:0061640	Process	Cytoskeleton-dependent cytokinesis	IBA
GO:1905719	Process	Protein localization to perinuclear region of cytoplasm	IMP	33228246

Other IDs

• MIM: 612140
• HGNC: 33280
• e!Ensembl: ENSG00000154997

Protein

• 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:

  MAERTMAMPTQIPADGDTQKENNIRCLTTIGHFGFECLPNQLVSRSIRQGFTFNILCVGE
  TGIGKSTLIDTLFNTNLKDNKSSHFYSNVGLQIQTYELQESNVQLKLTVVETVGYGDQID
  KEASYQPIVDYIDAQFEAYLQEELKIKRSLFEYHDSRVHVCLYFISPTGHSLKSLDLLTM
  KNLDSKVNIIPLIAKADTISKNDLQTFKNKIMSELISNGIQIYQLPTDEETAAQANSSVS
  GLLPFAVVGSTDEVKVGKRMVRGRHYPWGVLQVENENHCDFVKLRDMLLCTNMENLKEKT
  HTQHYECYRYQKLQKMGFTDVGPNNQPVSFQEIFEAKRQEFYDQCQREEEELKQRFMQRV
  KEKEATFKEAEKELQDKFEHLKMIQQEEIRKLEEEKKQLEGEIIDFYKMKAASEALQTQL
  STDTKKDKHRKK

• Sequence length: 432

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GIANT CELL GLIOBLASTOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOSARCOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Colonic Neoplasms	Colonic neoplasm	Pubtator	32162810	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32162810	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	37033211	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	CTD_human_DG	23917401		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Giant Cell Glioblastoma	Giant Cell Glioblastoma	ORPHANET_DG	24071942, 24075187		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Giant cell glioblastoma	Giant Cell Glioblastoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	23917401		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	CTD_human_DG	23917401		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	23917401, 36002559	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	BEFREE	23917401		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	CTD_human_DG	23917401		★☆☆☆☆ Found in Text Mining only
gliosarcoma	Gliosarcoma	ORPHANET_DG	24071942, 24075187		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gliosarcoma	Gliosarcoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	27115672		★★☆☆☆ Found in Text Mining + Unknown/Other Associations