• Gene id: 11346

Gene Summary

• Gene Symbol: SYNPO   Gene   UCSC   Ensembl
• Gene name: synaptopodin
• Alternate names: synaptopodin,
• Gene location: 5q33.1 (150586025: 150659213)     Exons: 11     NC_000005.10
• Gene summary(Entrez): Synaptopodin is an actin-associated protein that may play a role in actin-based cell shape and motility. The name synaptopodin derives from the protein's associations with postsynaptic densities and dendritic spines and with renal podocytes (Mundel et al.
• OMIM: 608155

Protein Summary

• Protein general information: Q8N3V7  
  • Name: Synaptopodin
  • Length: 929  
  • Mass: 99463
  • Tissue specificity: Expressed in cerebral cortex. {ECO
• Sequence:

  MLGPHLPPPPLAPSEGRPTPCAFQIPDGSYRCLALEAEESSGEEGLQGEVGPTDLEEDEGVSRSGDDSACRVTQG
  TPQLPKALGIQPPSCSREEQGASQHDDRASQDWDVVKAGQMMTASPSPGPGPRVAQKPALGRSTSLTEKDLKEAK
  ARSQQIAAQLTTPPSSNSRGVQLFNRRRQRVNEFTLESHGQRGQKPSQESLRVLPSSLPGHAPGLSLSSTSLPEP
  GPPRHPSPQSPDRGVPGHSMEGYSEEASLLRHLEKVASEEEEVPLVVYLKENAALLTANGLHLSQNREAQQSSPA
  PPPAEVHSPAADVNQNLASPSATLTTPTSNSSHNPPATDVNQNPPATVVPQSLPLSSIQQNSSEAQLPSNGTGPA
  SKPSTLCADGQPQAPAEEVRCSTLLIDKVSTPATTTSTFSREATLIPSSRPPASDFMSSSLLIDIQPNTLVVSAD
  QEMSGRAAATTPTKVYSEVHFTLAKPPSVVNRTARPFGIQAPGGTSQMERSPMLERRHFGEKAPAPQPPSLPDRS
  PRPQRHIMSRSPMVERRMMGQRSPASERRPLGNFTAPPTYTETLSTAPLASWVRSPPSYSVLYPSSDPKSSHLKG
  QAVPASKTGILEESMARRGSRKSMFTFVEKPKVTPNPDLLDLVQTADEKRRQRDQGEVGVEEEPFALGAEASNFQ
  QEPAPRDRASPAAAEEVVPEWASCLKSPRIQAKPKPKPNQNLSEASGKGAELYARRQSRMEKYVIESSSHTPELA
  RCPSPTMSLPSSWKYPTNAPGAFRVASRSPARTPPASLYHGYLPENGVLRPEPTKQPPYQLRPSLFVLSPIKEPA
  KVSPRAASPAKPSSLDLVPNLPKGALPPSPALPRPSRSSPGLYTSPGQDSLQPTAVSPPYGGDISPVSPSRAWSP
  RAKQAPRPSFSTRNAGIEAQVWKPSFCFK

• Structural information:
  • Interpro: IPR028753  
  • STRING: ENSP00000377789
• Other Databases: GeneCards:  SYNPO  Malacards:  SYNPO

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003779	actin binding	IBA	molecular function
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:0032233	positive regulation of actin filament bundle assembly	IBA	biological process
GO:0001725	stress fiber	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0030018	Z disc	IBA	cellular component
GO:0097444	spine apparatus	IBA	cellular component
GO:0098886	modification of dendritic spine	IBA	biological process
GO:1905355	spine apparatus assembly	IBA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0032233	positive regulation of actin filament bundle assembly	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0015629	actin cytoskeleton	IDA	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:0099170	postsynaptic modulation of chemical synaptic transmission	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0015629	actin cytoskeleton	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:1905355	spine apparatus assembly	IEA	biological process
GO:0099588	positive regulation of postsynaptic cytosolic calcium concentration	IEA	biological process
GO:0097444	spine apparatus	IEA	cellular component
GO:0048169	regulation of long-term neuronal synaptic plasticity	IEA	biological process
GO:0008542	visual learning	IEA	biological process
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0098886	modification of dendritic spine	IDA	biological process
GO:0003779	actin binding	ISS	molecular function
GO:0043197	dendritic spine	TAS	cellular component
GO:0015629	actin cytoskeleton	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04530	Tight junction

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray