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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4735
Gene name Gene Name - the full gene name approved by the HGNC.	Septin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SEPTIN2
Synonyms (NCBI Gene) Gene synonyms aliases	DIFF6, NEDD-5, NEDD5, Pnutl3, SEPT2, Septin-2, hNedd5
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q37.3

Show/Hide all(1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT735123	hsa-miR-223-3p	Immunoprecipitaion (IP), qRT-PCR, Immunocytochemistry (ICC)	32838617

Show/Hide all(59)

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:0002036	Process	Regulation of L-glutamate import across plasma membrane	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0005515	Function	Protein binding	IPI	10321247, 16189514, 17229681, 17685441, 17803907, 18330356, 19145258, 24722188, 25416956, 25588830, 28530676, 31515488, 32296183, 32814053, 33961781, 35271311, 35309913
GO:0005525	Function	GTP binding	IEA
GO:0005634	Component	Nucleus	IDA	10942595
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IDA	10942595
GO:0005737	Component	Cytoplasm	IEA
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IDA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IDA	23572511
GO:0005938	Component	Cell cortex	IEA
GO:0005938	Component	Cell cortex	ISS
GO:0005940	Component	Septin ring	IBA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	ISS
GO:0007283	Process	Spermatogenesis	IEA
GO:0008104	Process	Intracellular protein localization	IBA
GO:0009986	Component	Cell surface	IEA
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0015630	Component	Microtubule cytoskeleton	IBA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016020	Component	Membrane	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030234	Function	Enzyme regulator activity	IEA
GO:0030496	Component	Midbody	IEA
GO:0031105	Component	Septin complex	IBA
GO:0031105	Component	Septin complex	IDA	23572511, 25588830
GO:0031105	Component	Septin complex	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0032153	Component	Cell division site	IBA
GO:0032154	Component	Cleavage furrow	IEA
GO:0032391	Component	Photoreceptor connecting cilium	IDA	23572511
GO:0032880	Process	Regulation of protein localization	IEA
GO:0035869	Component	Ciliary transition zone	IEA
GO:0042802	Function	Identical protein binding	IPI	17637674
GO:0042995	Component	Cell projection	IEA
GO:0045171	Component	Intercellular bridge	IDA
GO:0045202	Component	Synapse	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0051301	Process	Cell division	IEA
GO:0060090	Function	Molecular adaptor activity	IBA
GO:0060170	Component	Ciliary membrane	IEA
GO:0060170	Component	Ciliary membrane	ISS
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	ISS
GO:0061640	Process	Cytoskeleton-dependent cytokinesis	IBA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0097227	Component	Sperm annulus	IDA	25588830
GO:0097730	Component	Non-motile cilium	IDA	23572511

MIM	HGNC	e!Ensembl
601506	7729	ENSG00000168385

Protein

UniProt ID

Q15019

Protein name

Septin-2 (Neural precursor cell expressed developmentally down-regulated protein 5) (NEDD-5)

Protein function

Filament-forming cytoskeletal GTPase. Forms a filamentous structure with SEPTIN12, SEPTIN6, SEPTIN2 and probably SEPTIN4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differ

PDB

2QA5 , 2QAG , 2QNR , 6UPA , 6UPQ , 6UPR , 7M6J

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00735	Septin	34 → 313	Septin	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Up-regulated in liver cancer. {ECO:0000269|PubMed:15915442, ECO:0000269|PubMed:19165576}.

Sequence

MSKQQPTQFINPETPGYVGFANLPNQVHRKSVKKGFEFTLMVVGESGLGKSTLINSLFLT
DLYPERVIPGAAEKIERTVQIEASTVEIEERGVKLRLTVVDTPGYGDAINCRDCFKTIIS
YIDEQFERYLHDESGLNRRHIIDNRVHCCFYFISPFGHGLKPLDVAFMKAIHNKVNIVPV
IAKADTLTLKERERLKKRILDEIEEHNIKIYHLPDAESDEDEDFKEQTRLLKASIPFSVV
GSNQLIEAKGKKVRGRLYPWGVVEVENPEHNDFLKLRTMLITHMQDLQEVTQDLHYENFR
SERLKRGGRKVENEDMNKDQILLEKEAELRRMQEMIARMQAQMQMQMQGGDGDGGALGHH
V

Sequence length

361

Interactions

View interactions

	KEGG		Reactome
	Bacterial invasion of epithelial cells Shigellosis		Anchoring of the basal body to the plasma membrane

Show/Hide Unknown Diseases (2)

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.
Lymphocytic Leukemia	Chronic lymphocytic leukemia	N/A	N/A	GWAS
Prostate cancer	Prostate cancer	N/A	N/A	GWAS

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alzheimer Disease	Associate	9811347
Astrocytoma	Associate	15140406
Brain Neoplasms	Associate	15140406
Breast Neoplasms	Associate	27557506
Colorectal Neoplasms	Associate	33200802
Diffuse Neurofibrillary Tangles with Calcification	Associate	9811347
Glioblastoma	Associate	17233837
Graves Ophthalmopathy	Associate	34078122
Hereditary Breast and Ovarian Cancer Syndrome	Associate	27557506
HIV Seropositivity	Associate	31732191
Leukemia Myeloid Acute	Associate	19445675
Myelodysplastic Syndromes	Associate	19445675, 29930011
Neoplasms	Inhibit	19445675
Neuroblastoma	Associate	18797883
Preeclamptic toxemia	Associate	26028931
Prostatic Neoplasms	Associate	32440687
Stomach Neoplasms	Associate	22468085

SEPTIN2 (septin 2)