• Gene id: 57488

Gene Summary

• Gene Symbol: ESYT2   Gene   UCSC   Ensembl
• Aliases: CHR2SYT, E-Syt2, FAM62B
• Gene name: extended synaptotagmin 2
• Alternate names: extended synaptotagmin-2, chr2 synaptotagmin, extended synaptotagmin like protein 2, extended synaptotagmin protein 2, family with sequence similarity 62 (C2 domain containing), member B,
• Gene location: 7q36.3 (158829576: 158730996)     Exons: 26     NC_000007.14
• OMIM: 616691

Protein Summary

• Protein general information: A0FGR8  
  • Name: Extended synaptotagmin 2 (E Syt2) (Chr2Syt)
  • Length: 921  
  • Mass: 102357
  • Tissue specificity: Widely expressed with high level in cerebellum. {ECO
• Sequence:

  MTANRDAALSSHRHPGCAQRPRTPTFASSSQRRSAFGFDDGNFPGLGERSHAPGSRLGARRRAKTARGLRGHRQR
  GAGAGLSRPGSARAPSPPRPGGPENPGGVLSVELPGLLAQLARSFALLLPVYALGYLGLSFSWVLLALALLAWCR
  RSRGLKALRLCRALALLEDEERVVRLGVRACDLPAWVHFPDTERAEWLNKTVKHMWPFICQFIEKLFRETIEPAV
  RGANTHLSTFSFTKVDVGQQPLRINGVKVYTENVDKRQIILDLQISFVGNCEIDLEIKRYFCRAGVKSIQIHGTM
  RVILEPLIGDMPLVGALSIFFLRKPLLEINWTGLTNLLDVPGLNGLSDTIILDIISNYLVLPNRITVPLVSEVQI
  AQLRFPVPKGVLRIHFIEAQDLQGKDTYLKGLVKGKSDPYGIIRVGNQIFQSRVIKENLSPKWNEVYEALVYEHP
  GQELEIELFDEDPDKDDFLGSLMIDLIEVEKERLLDEWFTLDEVPKGKLHLRLEWLTLMPNASNLDKVLTDIKAD
  KDQANDGLSSALLILYLDSARNLPSGKKISSNPNPVVQMSVGHKAQESKIRYKTNEPVWEENFTFFIHNPKRQDL
  EVEVRDEQHQCSLGNLKVPLSQLLTSEDMTVSQRFQLSNSGPNSTIKMKIALRVLHLEKRERPPDHQHSAQVKRP
  SVSKEGRKTSIKSHMSGSPGPGGSNTAPSTPVIGGSDKPGMEEKAQPPEAGPQGLHDLGRSSSSLLASPGHISVK
  EPTPSIASDISLPIATQELRQRLRQLENGTTLGQSPLGQIQLTIRHSSQRNKLIVVVHACRNLIAFSEDGSDPYV
  RMYLLPDKRRSGRRKTHVSKKTLNPVFDQSFDFSVSLPEVQRRTLDVAVKNSGGFLSKDKGLLGKVLVALASEEL
  AKGWTQWYDLTEDGTRPQAMT

• Structural information:
  • Protein Domains: (191..37-)
    (/note="SMP-LTD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01194,-ECO:0000269|PubMed:24847877)
    (369..48-)
    (/note="C2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (514..63-)
    (/note="C2-2)
    (/evidence="ECO:0000255|P-)
  • Interpro: IPR000008  IPR035892  IPR037752  IPR037733  IPR037749   IPR031468  IPR039010  
  • Prosite: PS50004 PS51847
  • CDD: cd08391 cd04050 cd04030
  • PDB: 2DMG 4NPJ 4NPK 4P42
  • PDBsum: 2DMG 4NPJ 4NPK 4P42
  • DIP: 61039
  • STRING: ENSP00000251527
• Other Databases: GeneCards:  ESYT2  Malacards:  ESYT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031227	intrinsic component of endoplasmic reticulum membrane	IBA	cellular component
GO:0031210	phosphatidylcholine binding	IBA	molecular function
GO:0005544	calcium-dependent phospholipid binding	IBA	molecular function
GO:0005509	calcium ion binding	IBA	molecular function
GO:0035091	phosphatidylinositol binding	IBA	molecular function
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	IBA	cellular component
GO:0008429	phosphatidylethanolamine binding	IBA	molecular function
GO:0140268	endoplasmic reticulum-plasma membrane contact site	IDA	cellular component
GO:0044232	organelle membrane contact site	IDA	cellular component
GO:0031227	intrinsic component of endoplasmic reticulum membrane	IDA	cellular component
GO:0031210	phosphatidylcholine binding	IDA	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0035091	phosphatidylinositol binding	IDA	molecular function
GO:0008429	phosphatidylethanolamine binding	IDA	molecular function
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	IMP	cellular component
GO:0140268	endoplasmic reticulum-plasma membrane contact site	IDA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0061817	endoplasmic reticulum-plasma membrane tethering	IEA	biological process
GO:0006869	lipid transport	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0005544	calcium-dependent phospholipid binding	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical 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:0045296	cadherin binding	HDA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray