• Gene id: 8082

Gene Summary

• Gene Symbol: SSPN   Gene   UCSC   Ensembl
• Aliases: DAGA5, KRAG, NSPN, SPN1, SPN2
• Gene name: sarcospan
• Alternate names: sarcospan, K-ras oncogene-associated protein, Kras oncogene-associated, kirsten-ras-associated protein, microspan, nanospan, sarcospan (Kras oncogene-associated gene),
• Gene location: 12p12.1 (26121950: 26234776)     Exons: 7     NC_000012.12
• Gene summary(Entrez): This gene encodes a member of the dystrophin-glycoprotein complex (DGC). The DGC spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal
• OMIM: 604655

Protein Summary

• Protein general information: Q14714  
  • Name: Sarcospan (K ras oncogene associated protein) (Kirsten ras associated protein)
  • Length: 243  
  • Mass: 26618
  • Tissue specificity: Isoform 1 is expressed exclusively in heart and skeletal muscle. Isoform 2 is expressed in heart, skeletal muscle, thymus, prostate, testis, ovary, small intestine, colon and spleen.
• Sequence:

  MGKNKQPRGQQRQGGPPAADAAGPDDMEPKKGTGAPKECGEEEPRTCCGCRFPLLLALLQLALGIAVTVVGFLMA
  SISSSLLVRDTPFWAGIIVCLVAYLGLFMLCVSYQVDERTCIQFSMKLLYFLLSALGLTVCVLAVAFAAHHYSQL
  TQFTCETTLDSCQCKLPSSEPLSRTFVYRDVTDCTSVTGTFKLFLLIQMILNLVCGLVCLLACFVMWKHRYQVFY
  VGVRICSLTASEGPQQKI

• Structural information:
  • Interpro: IPR007237  IPR030429  
  • STRING: ENSP00000242729
• Other Databases: GeneCards:  SSPN  Malacards:  SSPN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042383	sarcolemma	IBA	cellular component
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0016010	dystrophin-associated glycoprotein complex	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016010	dystrophin-associated glycoprotein complex	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006936	muscle contraction	TAS	biological process
GO:0007155	cell adhesion	TAS	biological process
GO:0030133	transport vesicle	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray