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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 cytoskeleton and the extracellular matrix of muscle cells. Two alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]
SSPN (Sarcospan) is a Protein Coding gene. Diseases associated with SSPN include Short Sleep, Familial Natural, 1 and Adrenal Carcinoma. Among its related pathways are Muscular Dystrophies and Dystrophin-Glycoprotein Complex.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IEA | -- |
GO:0005887 | integral component of plasma membrane | IEA | -- |
GO:0016010 | dystrophin-associated glycoprotein complex | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Muscular Dystrophies and Dystrophin-Glycoprotein Complex |
Muscular Dystrophies and Dystrophin-Glycoprotein Complex
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006936 | muscle contraction | TAS | 9395445 |
GO:0007155 | cell adhesion | TAS | 9395445 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SSPN 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SSPN 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SSPN 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sspn 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Sspn 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SSPN 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SSPN 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SSPN 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SSPN 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.28936 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | sspn 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs117506538 | Benign: not provided | 26,230,878(+) |
C/T NM_001135823.1(SSPN):c.225C>T (p.Tyr75=) |
SYNONYMOUS | |
rs121912617 | Affects: Short sleep, familial natural, 1 | 26,122,364(+) |
G/C NM_030762.3(BHLHE41):c.1151C>G (p.Pro384Arg) |
MISSENSE | |
rs147508239 | Benign: not provided | 26,230,857(+) |
G/A NM_001135823.1(SSPN):c.204G>A (p.Pro68=) |
SYNONYMOUS | |
rs1591838266 | Affects: Short sleep, familial natural, 1 | 26,122,431(+) |
A/G NM_030762.3(BHLHE41):c.1084T>C (p.Tyr362His) |
MISSENSE | |
rs34055748 | Benign: not provided | 26,230,745(+) |
C/T NM_001135823.1(SSPN):c.92C>T (p.Thr31Met) |
MISSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
short sleep, familial natural, 1 |
|
|
adrenal carcinoma |
|
|
rippling muscle disease 2 |
|
|
autosomal recessive limb-girdle muscular dystrophy type 2f |
|
|
autosomal recessive limb-girdle muscular dystrophy type 2c |
|
|