SSPN (sarcospan)

2003-02-01 Affiliation

Identity

HGNC

SSPN

LOCATION

12p12.1

LOCUSID

8082

ALIAS

DAGA5,KRAG,NSPN,SPN1,SPN2

FUSION GENES

Show Gene Fusions

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

Gene ID	Transcript ID	Uniprot
ENSG00000123096	ENST00000242729	Q14714
ENSG00000123096	ENST00000422622	Q14714
ENSG00000123096	ENST00000535504	F5H0K2
ENSG00000123096	ENST00000538142	F5H381
ENSG00000123096	ENST00000540266	Q14714

Expression (GTEx)

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 ID	Year	Title	Citations
20935629	2010	Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.	396
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
18981229	2008	Sarcospan reduces dystrophic pathology: stabilization of the utrophin-glycoprotein complex.	29
11807778	2002	K-ras mutation in helicobacter pylori-associated chronic gastritis in patients with and without gastric cancer.	24
17311848	2007	Disrupted mechanical stability of the dystrophin-glycoprotein complex causes severe muscular dystrophy in sarcospan transgenic mice.	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.	11
27060448	2016	Differential Expression between Human Dermal Papilla Cells from Balding and Non-Balding Scalps Reveals New Candidate Genes for Androgenetic Alopecia.	9
27798107	2016	High levels of sarcospan are well tolerated and act as a sarcolemmal stabilizer to address skeletal muscle and pulmonary dysfunction in DMD.	5
11956653	2002	Frequent polymorphism of peroxisome proliferator activated receptor gamma gene in colorectal cancer containing wild-type K-ras gene.	3
18830929	2008	Reduced expression of sarcospan in muscles of Fukuyama congenital muscular dystrophy.	2

Citation

Dessen P

SSPN (sarcospan)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42396/sspn