• Gene id: 79953

Gene Summary

• Gene Symbol: SYNDIG1   Gene   UCSC   Ensembl
• Aliases: C20orf39, DSPC2, IFITMD5, TMEM90B
• Gene name: synapse differentiation inducing 1
• Alternate names: synapse differentiation-inducing gene protein 1, dispanin subfamily C member 2, interferon induced transmembrane protein domain containing 5, synapse differentiation induced gene 1, transmembrane protein 90B,
• Gene location: 20p11.21 (24469198: 24666616)     Exons: 13     NC_000020.11
• Gene summary(Entrez): This gene encodes a protein that belongs to the interferon-induced transmembrane family of proteins. A similar protein in rat is thought to regulate the development of excitatory synapses. [provided by RefSeq, Jul 2013]

Protein Summary

• Protein general information: Q9H7V2  
  • Name: Synapse differentiation inducing gene protein 1 (SynDIG1) (Dispanin subfamily C member 2) (DSPC2) (Transmembrane protein 90B)
  • Length: 258  
  • Mass: 28551
• Sequence:

  MDGIIEQKSMLVHSKISDAGKRNGLINTRNLMAESRDGLVSVYPAPQYQSHRVGASTVPASLDSSRSEPMQQLLD
  PNTLQQSVESRYRPNIILYSEGVLRSWGDGVAADCCETTFIEDRSPTKDSLEYPDGKFIDLSADDIKIHTLSYDV
  EEEEEFQELESDYSSDTESEDNFLMMPPRDHLGLSVFSMLCCFWPLGIAAFYLSHETNKAVAKGDLHQASTSSRR
  ALFLAVLSITIGTGVYVGVAVALIAYLSKNNHL

• Structural information:
  • Interpro: IPR007593  
  • STRING: ENSP00000366058
• Other Databases: GeneCards:  SYNDIG1  Malacards:  SYNDIG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051965	positive regulation of synapse assembly	IDA	biological process
GO:0044297	cell body	ISS	cellular component
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0035254	glutamate receptor binding	ISS	molecular function
GO:0031901	early endosome membrane	ISS	cellular component
GO:0097091	synaptic vesicle clustering	ISS	biological process
GO:0060076	excitatory synapse	ISS	cellular component
GO:0043198	dendritic shaft	ISS	cellular component
GO:0043197	dendritic spine	ISS	cellular component
GO:0014069	postsynaptic density	ISS	cellular component
GO:0006886	intracellular protein transport	ISS	biological process
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0045202	synapse	IEA	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: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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0044297	cell body	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0035254	glutamate receptor binding	IEA	molecular function
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0043197	dendritic spine	IEA	cellular component
GO:0043198	dendritic shaft	IEA	cellular component
GO:0051965	positive regulation of synapse assembly	IEA	biological process
GO:0060076	excitatory synapse	IEA	cellular component
GO:0097091	synaptic vesicle clustering	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0006886	intracellular protein transport	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0051965	positive regulation of synapse assembly	IEA	biological process
GO:0043197	dendritic spine	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0098839	postsynaptic density membrane	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq