SSPN (sarcospan)

2003-02-01  

Identity

HGNC
SSPN
LOCATION
12p12.1
LOCUSID
8082
ALIAS
DAGA5,KRAG,NSPN,SPN1,SPN2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8082
MIM: 601599
HGNC: 11322
Ensembl: ENSG00000123096

Variants:

dbSNP: 8082
ClinVar: 8082
TCGA: ENSG00000123096
COSMIC: SSPN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000123096ENST00000242729Q14714
ENSG00000123096ENST00000422622Q14714
ENSG00000123096ENST00000535504F5H0K2
ENSG00000123096ENST00000538142F5H381
ENSG00000123096ENST00000540266Q14714

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
284061752017Nkx2-5 and Sarcospan genetically interact in the development of the muscular ventricular septum of the heart.3
284061752017Nkx2-5 and Sarcospan genetically interact in the development of the muscular ventricular septum of the heart.3
270604482016Differential Expression between Human Dermal Papilla Cells from Balding and Non-Balding Scalps Reveals New Candidate Genes for Androgenetic Alopecia.36
277981072016High levels of sarcospan are well tolerated and act as a sarcolemmal stabilizer to address skeletal muscle and pulmonary dysfunction in DMD.15
270604482016Differential Expression between Human Dermal Papilla Cells from Balding and Non-Balding Scalps Reveals New Candidate Genes for Androgenetic Alopecia.36
277981072016High levels of sarcospan are well tolerated and act as a sarcolemmal stabilizer to address skeletal muscle and pulmonary dysfunction in DMD.15
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
209356292010Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.493
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
209356292010Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.493
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
188309292008Reduced expression of sarcospan in muscles of Fukuyama congenital muscular dystrophy.3
189812292008Sarcospan reduces dystrophic pathology: stabilization of the utrophin-glycoprotein complex.39
188309292008Reduced 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-(sarcospan)