• Gene id: 54221

Gene Summary

• Gene Symbol: SNTG2   Gene   UCSC   Ensembl
• Aliases: G2SYN, SYN5
• Gene name: syntrophin gamma 2
• Alternate names: gamma-2-syntrophin, syntrophin-5,
• Gene location: 2p25.3 (950848: 1367990)     Exons: 30     NC_000002.12
• Gene summary(Entrez): This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-relate
• OMIM: 608715

Protein Summary

• Protein general information: Q9NY99  
  • Name: Gamma 2 syntrophin (G2SYN) (Syntrophin 5) (SYN5)
  • Length: 539  
  • Mass: 60217
  • Tissue specificity: Widely expressed. Strong expression in brain and testis. In CNS, it is expressed in the perikaryon and proximal portion of the neuronal processes. Strong expression in the hippocampus, neuron-rich dendate granule cells, and pyramidal c
• Sequence:

  MGTEGPPPPAASRGRQGCLLVPARTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNRRTVT
  LRRQPVGGLGLSIKGGSEHNVPVVISKIFEDQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTI
  TVEYLREAPAFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSSPIAKDPRYEKRWLDTLSVPLS
  MARISRYKAGTEKLRWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHM
  GWVNEKLQGADSSQTFRPKFLALKGPSFYVFSTPPVSTFDWVRAERTYHLCEVLFKVHKFWLTEDCWLQANLYLG
  LQDFDFEDQRPYCFSIVAGHGKSHVFNVELGSELAMWEKSFQRATFMEVQRTGSRTYMCSWQGEMLCFTVDFALG
  FTCFESKTKNVLWRFKFSQLKGSSDDGKTRVKLLFQNLDTKQIETKELEFQDLRAVLHCIHSFIAAKVASVDPGF
  MDSQSLARKYMYSS

• Structural information:
  • Protein Domains: (73..15-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (296..42-)
    (/note="PH"-)
  • Interpro: IPR001478  IPR036034  IPR015482  
  • Prosite: PS50106
  • STRING: ENSP00000311837
• Other Databases: GeneCards:  SNTG2  Malacards:  SNTG2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0016010	dystrophin-associated glycoprotein complex	IBA	cellular component
GO:0005198	structural molecule activity	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007417	central nervous system development	TAS	biological process
GO:0016013	syntrophin complex	TAS	cellular component
GO:0097109	neuroligin family protein binding	IPI	molecular function
GO:0097109	neuroligin family protein binding	IPI	molecular function
GO:0097109	neuroligin family protein binding	IPI	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0030165	PDZ domain binding	IPI	molecular function
GO:0030165	PDZ domain binding	IPI	molecular function
GO:0030165	PDZ domain binding	IPI	molecular function

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)
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