Identity
HGNC
LOCATION
12p12.1
LOCUSID
ALIAS
DAGA5,KRAG,NSPN,SPN1,SPN2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 8082
MIM: 601599
HGNC: 11322
Ensembl: ENSG00000123096
Variants:
dbSNP: 8082
ClinVar: 8082
TCGA: ENSG00000123096
COSMIC: SSPN
RNA/Proteins
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 28406175 | 2017 | Nkx2-5 and Sarcospan genetically interact in the development of the muscular ventricular septum of the heart. | 3 |
| 28406175 | 2017 | Nkx2-5 and Sarcospan genetically interact in the development of the muscular ventricular septum of the heart. | 3 |
| 27060448 | 2016 | Differential Expression between Human Dermal Papilla Cells from Balding and Non-Balding Scalps Reveals New Candidate Genes for Androgenetic Alopecia. | 36 |
| 27798107 | 2016 | High levels of sarcospan are well tolerated and act as a sarcolemmal stabilizer to address skeletal muscle and pulmonary dysfunction in DMD. | 15 |
| 27060448 | 2016 | Differential Expression between Human Dermal Papilla Cells from Balding and Non-Balding Scalps Reveals New Candidate Genes for Androgenetic Alopecia. | 36 |
| 27798107 | 2016 | High levels of sarcospan are well tolerated and act as a sarcolemmal stabilizer to address skeletal muscle and pulmonary dysfunction in DMD. | 15 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 20935629 | 2010 | Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. | 493 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 20935629 | 2010 | Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. | 493 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
| 18830929 | 2008 | Reduced expression of sarcospan in muscles of Fukuyama congenital muscular dystrophy. | 3 |
| 18981229 | 2008 | Sarcospan reduces dystrophic pathology: stabilization of the utrophin-glycoprotein complex. | 39 |
| 18830929 | 2008 | Reduced expression of sarcospan in muscles of Fukuyama congenital muscular dystrophy. | 3 |
Citation
Dessen P
SSPN (sarcospan)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/42396/sspn
