• Gene id: 171024

Gene Summary

• Gene Symbol: SYNPO2   Gene   UCSC   Ensembl
• Gene name: synaptopodin 2
• Alternate names: synaptopodin-2, genethonin-2, myopodin,
• Gene location: 4q26 (118850680: 119061246)     Exons: 22     NC_000004.12

Protein Summary

• Protein general information: Q9UMS6  
  • Name: Synaptopodin 2 (Genethonin 2) (Myopodin)
  • Length: 1093  
  • Mass: 117514
  • Tissue specificity: Expressed in heart muscle. Isoform 5 is specifically expressed in skeletal muscle. {ECO
• Sequence:

  MGTGDFICISMTGGAPWGFRLQGGKEQKQPLQVAKIRNQSKASGSGLCEGDEVVSINGNPCADLTYPEVIKLMES
  ITDSLQMLIKRPSSGISEALISENENKNLEHLTHGGYVESTTLQIRPATKTQCTEFFLAPVKTEVPLAENQRSGP
  DCAGSLKEETGPSYQRAPQMPDSQRGRVAEELILREKVEAVQPGPVVELQLSLSQERHKGASGPLVALPGAEKSK
  SPDPDPNLSHDRIVHINSIPTNEKADPFLRSSKIIQISSGRELRVIQESEAGDAGLPRVEVILDCSDRQKTEGCR
  LQAGKECVDSPVEGGQSEAPPSLVSFAVSSEGTEQGEDPRSEKDHSRPHKHRARHARLRRSESLSEKQVKEAKSK
  CKSIALLLTDAPNPNSKGVLMFKKRRRRARKYTLVSYGTGELEREADEEEEGDKEDTCEVAFLGASESEVDEELL
  SDVDDNTQVVNFDWDSGLVDIEKKLNRGDKMEMLPDTTGKGALMFAKRRERMDQITAQKEEDKVGGTPSREQDAA
  QTDGLRTTTSYQRKEEESVRTQSSVSKSYIEVSHGLGHVPQQNGFSGTSETANIQRMVPMNRTAKPFPGSVNQPA
  TPFSPTRNMTSPIADFPAPPPYSAVTPPPDAFSRGVSSPIAGPAQPPPWPQPAPWSQPAFYDSSERIASRDERIS
  VPAKRTGILQEAKRRSTTKPMFTFKEPKVSPNPELLSLLQNSEGKRGTGAGGDSGPEEDYLSLGAEACNFMQSSS
  AKQKTPPPVAPKPAVKSSSSQPVTPVSPVWSPGVAPTQPPAFPTSNPSKGTVVSSIKIAQPSYPPARPASTLNVA
  GPFKGPQAAVASQNYTPKPTVSTPTVNAVQPGAVGPSNELPGMSGRGAQLFAKRQSRMEKYVVDSDTVQAHAARA
  QSPTPSLPASWKYSSNVRAPPPVAYNPIHSPSYPLAALKSQPSAAQPSKMGKKKGKKPLNALDVMKHQPYQLNAS
  LFTFQPPDAKDGLPQKSSVKVNSALAMKQALPPRPVNAASPTNVQASSVYSVPAYTSPPSFFAEASSPVSASPVP
  VGIPTSPKQESASSSYFVAPRPKFSAKKSGVTIQVWKPSVVEE

• Structural information:
  • Protein Domains: (6..8-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143"-)
  • Interpro: IPR001478  IPR036034  
  • Prosite: PS50106
  • DIP: 47311
  • STRING: ENSP00000306015
• Other Databases: GeneCards:  SYNPO2  Malacards:  SYNPO2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001725	stress fiber	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
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:0031005	filamin binding	IDA	molecular function
GO:0051393	alpha-actinin binding	IDA	molecular function
GO:0030018	Z disc	IDA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0001725	stress fiber	IDA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0099023	vesicle tethering complex	IEA	cellular component
GO:0061684	chaperone-mediated autophagy	IEA	biological process
GO:0030674	protein-macromolecule adaptor activity	IEA	molecular function
GO:0030018	Z disc	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0001725	stress fiber	IEA	cellular component
GO:0000045	autophagosome assembly	IEA	biological process
GO:0030018	Z disc	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0051371	muscle alpha-actinin binding	ISS	molecular function
GO:0071889	14-3-3 protein binding	ISS	molecular function
GO:0030018	Z disc	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005925	focal adhesion	HDA	cellular component

Diseases

Associated diseases	References
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)