• Gene id: 50511

Gene Summary

• Gene Symbol: SYCP3   Gene   UCSC   Ensembl
• Aliases: COR1, RPRGL4, SCP3, SPGF4
• Gene name: synaptonemal complex protein 3
• Alternate names: synaptonemal complex protein 3,
• Gene location: 12q23.2 (101739720: 101728647)     Exons: 8     NC_000012.12
• Gene summary(Entrez): This gene encodes an essential structural component of the synaptonemal complex. This complex is involved in synapsis, recombination and segregation of meiotic chromosomes. Mutations in this gene are associated with azoospermia in males and susceptibility
• OMIM: 604759

SNPs

rs1237691411

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.101737863A>G
NC_000012.11   g.102131641A>G
NG_021181.1   g.6607T>C
NM_153694.4   c.73T>C
NM_001177949.2   c.73T>C
NM_001177949.1   c.73T>C
NM_001177948.1   c.73T>C
XM_005268922.5   c.313T>C
XM_005268922.1   c.313T>C
XM_005268926.4   c.73T>C
XM_005268926  

Protein Summary

• Protein general information: Q8IZU3  
  • Name: Synaptonemal complex protein 3 (SCP 3)
  • Length: 236  
  • Mass: 27,729
• Sequence:

  MVSSGKKYSRKSGKPSVEDQFTRAYDFETEDKKDLSGSEEDVIEGKTAVIEKRRKKRSSAGVVEDMGGEVQNMLE
  GVGVDINKALLAKRKRLEMYTKASLKTSNQKIEHVWKTQQDQRQKLNQEYSQQFLTLFQQWDLDMQKAEEQEEKI
  LNMFRQQQKILQQSRIVQSQRLKTIKQLYEQFIKSMEELEKNHDNLLTGAQNEFKKEMAMLQKKIMMETQQQEIA
  SVRKSLQSMLF

• Structural information:
  • Interpro: IPR006888  
  • PDB: 4CPC
  • PDBsum: 4CPC
  • DIP: 59536
  • STRING: ENSP00000266743
• Other Databases: GeneCards:  SYCP3  Malacards:  SYCP3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0000800	lateral element	ISS	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0007141	male meiosis I	NAS	biological process
GO:0035093	spermatogenesis, exchange of chromosomal proteins	IMP	biological process
GO:0051301	cell division	IEA	biological process
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0000800	lateral element	ISS	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0007141	male meiosis I	NAS	biological process
GO:0035093	spermatogenesis, exchange of chromosomal proteins	IMP	biological process
GO:0051301	cell division	IEA	biological process
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0000800	lateral element	ISS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0007141	male meiosis I	NAS	biological process
GO:0035093	spermatogenesis, exchange of chromosomal proteins	IMP	biological process

Diseases

Associated diseases	References
Pregnancy loss	GAD: 19110213
Recurrent pregnancy loss (RPL)	INFBASE: 21126912
Unexplained infertility	INFBASE: 21159741
Azoospermia	MIK: 14643120
Impaired human spermatogenesis	MIK: 20075417
Testicular atrophy	MIK: 16824523
Non obstructive azoospermia	MIK: 16824523
Male factor infertility	MIK: 17434513
Sertoli cell only syndrome (SCOS)	MIK: 16824523
Spermatogenesis defects	MIK: 16824523
Maturation arrest	MIK: 16213863
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Azoospermia	MIK: 14643120
Male infertility	MIK: 17526644
Spermatogenic defects	MIK: 16213863
Hypospermatogenesis	MIK: 28361989
Male infertility	MIK: 17434513
Recurrent miscarriages	MIK: 21126912
Nonobstructive azoospermia	MIK: 16824523
Spermatogonial arrest	MIK: 16824523
Sertoli cell-only syndrome	MIK: 16824523
Testicular atrophy	MIK: 16824523
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
20075417	Impaired human spermatogenesis			28 (13 patients with spermatogenic failure, 5 patients with primary germ cell tumors, 10 controls with conserved spermatogenesis)	Male infertility	MLH1 MLH3 PMS2 MSH4 and MSH5 ATR HSPA2 and SYCP3
14643120	Azoospermia			94 (19 azoospermic patients, 75 normal fertile controls)	Male infertility
21126912	Maturation arrest, recurrent miscarriages			286 (40 patients with Maturation arrest, 46 patients with recurrent miscarriages, 200 controls)	Male infertility
22670862	Azoospermia		Turkish	150 (75 nonobstructive azoospermic infertile male patients, 75 individuals whose fertility was proven by reproduction)	Male infertility	SYCP3
17434513	Male infertility		Spanish		Male infertility	SYCP3
16824523	Nonobstructive azoospermia, spermatogonial arrest, Sertoli cell-only syndrome, and testicular atrophy			110 patients	Male infertility	SYCP3
16213863	Azoospermia, maturation arrest of spermatogenesis				Male infertility	SYCP3
17526644	Azoospermia, Male infertility				Male infertility
10678170	Male infertility				Male infertility
29713536	Sperm number defects	c.524_527del (p.Ile175Asnfs*8)			Male infertility	NGS
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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
32242295	Spermatogenic impairment	c.73 A>G, p.Tyr25His rs1237691411, c.241 A>C, p.Ile81Leu Not annotated	Caucasi an	1100 subjects	Male infertility