Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

Show/Hide all(31)

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

MIM	HGNC	e!Ensembl
612140	33280	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

Interactions

View interactions

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
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.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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

SEPTIN14 (septin 14)