• Gene id: 4735

Gene Summary

• Gene Symbol: SEPTIN2   Gene   UCSC   Ensembl
• Aliases: DIFF6, NEDD-5, NEDD5, Pnutl3, SEPT2, hNedd5
• Gene name: septin 2
• Alternate names: septin-2, epididymis secretory sperm binding protein, neural precursor cell expressed, developmentally down-regulated 5,
• Gene location: 2q37.3 (241315186: 241354026)     Exons: 21     NC_000002.12
• OMIM: 601506

Protein Summary

• Protein general information: Q15019  
  • Name: Septin 2 (Neural precursor cell expressed developmentally down regulated protein 5) (NEDD 5)
  • Length: 361  
  • Mass: 41487
  • Tissue specificity: Widely expressed. Up-regulated in liver cancer. {ECO
• Sequence:

  MSKQQPTQFINPETPGYVGFANLPNQVHRKSVKKGFEFTLMVVGESGLGKSTLINSLFLTDLYPERVIPGAAEKI
  ERTVQIEASTVEIEERGVKLRLTVVDTPGYGDAINCRDCFKTIISYIDEQFERYLHDESGLNRRHIIDNRVHCCF
  YFISPFGHGLKPLDVAFMKAIHNKVNIVPVIAKADTLTLKERERLKKRILDEIEEHNIKIYHLPDAESDEDEDFK
  EQTRLLKASIPFSVVGSNQLIEAKGKKVRGRLYPWGVVEVENPEHNDFLKLRTMLITHMQDLQEVTQDLHYENFR
  SERLKRGGRKVENEDMNKDQILLEKEAELRRMQEMIARMQAQMQMQMQGGDGDGGALGHHV

• Structural information:
  • Protein Domains: (34..30-)
    (/note="Septin-type-G)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01056"-)
  • Interpro: IPR030379  IPR027417  IPR016491  IPR008113  
  • Prosite: PS51719
  • CDD: cd01850
  • PDB: 2QA5 2QAG 2QNR
  • PDBsum: 2QA5 2QAG 2QNR
  • DIP: 38220
  • STRING: ENSP00000479861
• Other Databases: GeneCards:  SEPTIN2  Malacards:  SEPTIN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031105	septin complex	IBA	cellular component
GO:0034613	cellular protein localization	IBA	biological process
GO:0060090	molecular adaptor activity	IBA	molecular function
GO:0003924	GTPase activity	IBA	molecular function
GO:0005940	septin ring	IBA	cellular component
GO:0015630	microtubule cytoskeleton	IBA	cellular component
GO:0032153	cell division site	IBA	cellular component
GO:0060271	cilium assembly	IBA	biological process
GO:0061640	cytoskeleton-dependent cytokinesis	IBA	biological process
GO:0031105	septin complex	IDA	cellular component
GO:0097227	sperm annulus	IDA	cellular component
GO:0060271	cilium assembly	ISS	biological process
GO:0005938	cell cortex	ISS	colocalizes with
GO:0060170	ciliary membrane	ISS	cellular component
GO:0007224	smoothened signaling pathway	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0051301	cell division	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0000776	kinetochore	IEA	cellular component
GO:0007283	spermatogenesis	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0031514	motile cilium	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0031175	neuron projection development	IEA	biological process
GO:0000145	exocyst	IEA	cellular component
GO:0045296	cadherin binding	HDA	molecular function
GO:0005938	cell cortex	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0060170	ciliary membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000777	condensed chromosome kinetochore	IEA	cellular component
GO:0032154	cleavage furrow	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0030496	midbody	IEA	cellular component
GO:0045171	intercellular bridge	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0031105	septin complex	IDA	cellular component
GO:0032391	photoreceptor connecting cilium	IDA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0097730	non-motile cilium	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05131	Shigellosis
hsa05100	Bacterial invasion of epithelial cells

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq