• Gene id: 8871

Gene Summary

• Gene Symbol: SYNJ2   Gene   UCSC   Ensembl
• Aliases: INPP5H
• Gene name: synaptojanin 2
• Alternate names: synaptojanin-2, inositol phosphate 5'-phosphatase 2, inositol polyphosphate-5-phosphatase H, phosphoinositide 5-phosphatase, synaptic inositol 1,4,5-trisphosphate 5-phosphatase 2,
• Gene location: 6q25.3 (53254902: 53235380)     Exons: 5     NC_000019.10
• Gene summary(Entrez): The gene is a member of the inositol-polyphosphate 5-phosphatase family. The encoded protein interacts with the ras-related C3 botulinum toxin substrate 1, which causes translocation of the encoded protein to the plasma membrane where it inhibits clathrin
• OMIM: 609410

Protein Summary

• Protein general information: O15056  
  • Name: Synaptojanin 2 (EC 3.1.3.36) (Synaptic inositol 1,4,5 trisphosphate 5 phosphatase 2)
  • Length: 1496  
  • Mass: 165538
• Sequence:

  MALSKGLRLLGRLGAEGDCSVLLEARGRDDCLLFEAGTVATLAPEEKEVIKGQYGKLTDAYGCLGELRLKSGGTS
  LSFLVLVTGCTSVGRIPDAEIYKITATDFYPLQEEAKEEERLIALKKILSSGVFYFSWPNDGSRFDLTVRTQKQG
  DDSSEWGNSFFWNQLLHVPLRQHQVSCCDWLLKIICGVVTIRTVYASHKQAKACLVSRVSCERTGTRFHTRGVND
  DGHVSNFVETEQMIYMDDGVSSFVQIRGSVPLFWEQPGLQVGSHHLRLHRGLEANAPAFDRHMVLLKEQYGQQVV
  VNLLGSRGGEEVLNRAFKKLLWASCHAGDTPMINFDFHQFAKGGKLEKLETLLRPQLKLHWEDFDVFTKGENVSP
  RFQKGTLRMNCLDCLDRTNTVQSFIALEVLHLQLKTLGLSSKPIVDRFVESFKAMWSLNGHSLSKVFTGSRALEG
  KAKVGKLKDGARSMSRTIQSNFFDGVKQEAIKLLLVGDVYGEEVADKGGMLLDSTALLVTPRILKAMTERQSEFT
  NFKRIRIAMGTWNVNGGKQFRSNVLRTAELTDWLLDSPQLSGATDSQDDSSPADIFAVGFEEMVELSAGNIVNAS
  TTNKKMWGEQLQKAISRSHRYILLTSAQLVGVCLYIFVRPYHVPFIRDVAIDTVKTGMGGKAGNKGAVGIRFQFH
  STSFCFICSHLTAGQSQVKERNEDYKEITQKLCFPMGRNVFSHDYVFWCGDFNYRIDLTYEEVFYFVKRQDWKKL
  LEFDQLQLQKSSGKIFKDFHEGAINFGPTYKYDVGSAAYDTSDKCRTPAWTDRVLWWRKKHPFDKTAGELNLLDS
  DLDVDTKVRHTWSPGALQYYGRAELQASDHRPVLAIVEVEVQEVDVGARERVFQEVSSFQGPLDATVVVNLQSPT
  LEEKNEFPEDLRTELMQTLGSYGTIVLVRINQGQMLVTFADSHSALSVLDVDGMKVKGRAVKIRPKTKDWLKGLR
  EEIIRKRDSMAPVSPTANSCLLEENFDFTSLDYESEGDILEDDEDYLVDEFNQPGVSDSELGGDDLSDVPGPTAL
  APPSKSPALTKKKQHPTYKDDADLVELKRELEAVGEFRHRSPSRSLSVPNRPRPPQPPQRPPPPTGLMVKKSASD
  ASISSGTHGQYSILQTARLLPGAPQQPPKARTGISKPYNVKQIKTTNAQEAEAAIRCLLEARGGASEEALSAVAP
  RDLEASSEPEPTPGAAKPETPQAPPLLPRRPPPRVPAIKKPTLRRTGKPLSPEEQFEQQTVHFTIGPPETSVEAP
  PVVTAPRVPPVPKPRTFQPGKAAERPSHRKPASDEAPPGAGASVPPPLEAPPLVPKVPPRRKKSAPAAFHLQVLQ
  SNSQLLQGLTYNSSDSPSGHPPAAGTVFPQGDFLSTSSATSPDSDGTKAMKPEAAPLLGDYQDPFWNLLHHPKLL
  NNTWLSKSSDPLDSGTRSPKRDPIDPVSAGASAAKAELPPDHEHKTLGHWVTISDQEKRTALQVFDPLAKT

• Structural information:
  • Protein Domains: (120..44-)
    (/note="SAC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00183-)
    (889..96-)
    (/note="RRM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR015047  IPR036691  IPR005135  IPR000300  IPR012677   IPR035979  IPR000504  IPR002013  IPR034974  IPR034973  
  • Prosite: PS50102 PS50275
  • CDD: cd12720
  • PDB: 1UFW
  • PDBsum: 1UFW
  • STRING: ENSP00000347792
• Other Databases: GeneCards:  SYNJ2  Malacards:  SYNJ2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017124	SH3 domain binding	IBA	molecular function
GO:0046855	inositol phosphate dephosphorylation	IBA	biological process
GO:0048471	perinuclear region of cytoplasm	IBA	cellular component
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IBA	molecular function
GO:0007420	brain development	IBA	biological process
GO:0030165	PDZ domain binding	IBA	NOT|molecular function
GO:0046856	phosphatidylinositol dephosphorylation	IBA	biological process
GO:0048488	synaptic vesicle endocytosis	IBA	biological process
GO:0098793	presynapse	IBA	cellular component
GO:0034595	phosphatidylinositol phosphate 5-phosphatase activity	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0042578	phosphoric ester hydrolase activity	IEA	molecular function
GO:0046856	phosphatidylinositol dephosphorylation	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IEA	molecular function
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	TAS	molecular function
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0061024	membrane organization	TAS	biological process
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:0045121	membrane raft	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04070	Phosphatidylinositol signaling system
hsa00562	Inositol phosphate metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq