• Gene id: 112476

Gene Summary

• Gene Symbol: PRRT2   Gene   UCSC   Ensembl
• Aliases: BFIC2, BFIS2, DSPB3, DYT10, EKD1, FICCA, ICCA, IFITMD1, PKC
• Gene name: proline rich transmembrane protein 2
• Alternate names: proline-rich transmembrane protein 2, dispanin subfamily B member 3, dystonia 10, infantile convulsions and paroxysmal choreoathetosis, interferon induced transmembrane protein domain containing 1,
• Gene location: 16p11.2 (29812192: 29815919)     Exons: 2     NC_000016.10
• Gene summary(Entrez): This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated
• OMIM: 614386

Protein Summary

• Protein general information: Q7Z6L0  
  • Name: Proline rich transmembrane protein 2 (Dispanin subfamily B member 3) (DSPB3)
  • Length: 340  
  • Mass: 34945
• Sequence:

  MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPDQPEAPQPGPNTTAAPVDSGPKAGLAPETTETP
  AGASETAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATADQGSRLESAAPPEPAPEPAPQPDPRPDSQP
  TPKPALQPELPTQEDPTPEILSESVGEKQENGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRVLQQLVEE
  DRMRRAHSGHPGSPRGSLSRHPSSQLAGPGVEGGEGTQKPRDYIILAILSCFCPMWPVNIVAFAYAVMSRNSLQQ
  GDVDGAQRLGRVAKLLSIVALVGGVLIIIASCVINLGVYK

• Structural information:
  • Interpro: IPR007593  
  • STRING: ENSP00000456226
• Other Databases: GeneCards:  PRRT2  Malacards:  PRRT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IBA	cellular component
GO:0017075	syntaxin-1 binding	ISS	molecular function
GO:1905513	negative regulation of short-term synaptic potentiation	ISS	biological process
GO:0042734	presynaptic membrane	ISS	cellular component
GO:0008021	synaptic vesicle	ISS	cellular component
GO:0043679	axon terminus	ISS	cellular component
GO:0031982	vesicle	ISS	cellular component
GO:0035544	negative regulation of SNARE complex assembly	ISS	biological process
GO:0098793	presynapse	ISS	cellular component
GO:0031629	synaptic vesicle fusion to presynaptic active zone membrane	ISS	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0050884	neuromuscular process controlling posture	IMP	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:0005515	protein binding	IPI	molecular function
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0017075	syntaxin-1 binding	IEA	molecular function
GO:0042734	presynaptic membrane	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0099502	calcium-dependent activation of synaptic vesicle fusion	IEA	biological process
GO:1905513	negative regulation of short-term synaptic potentiation	IEA	biological process
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0043005	neuron projection	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0031629	synaptic vesicle fusion to presynaptic active zone membrane	IEA	biological process
GO:0031982	vesicle	IEA	cellular component
GO:0035544	negative regulation of SNARE complex assembly	IEA	biological process
GO:0043679	axon terminus	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0099056	integral component of presynaptic membrane	IEA	cellular component
GO:0030672	synaptic vesicle membrane	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0098839	postsynaptic density membrane	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0042734	presynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component

Diseases

Associated diseases	References
Primary dystonia	KEGG:H00831
Benign familial infantile seizure	KEGG:H02362
Primary dystonia	KEGG:H00831
Benign familial infantile seizure	KEGG:H02362
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