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Aliases for SSPN Gene

Aliases for SSPN Gene

  • Sarcospan 2 3 3 5
  • K-Ras Oncogene-Associated Protein 3 4
  • Kirsten-Ras-Associated Protein 3 4
  • KRAG 3 4
  • Sarcospan (Kras Oncogene-Associated Gene) 3
  • Kras Oncogene-Associated Gene 2
  • Kras Oncogene-Associated 3
  • Microspan 3
  • Nanospan 3
  • DAGA5 3
  • SPN1 3
  • NSPN 3
  • SPN2 3

External Ids for SSPN Gene

Previous HGNC Symbols for SSPN Gene

  • KRAG

Previous GeneCards Identifiers for SSPN Gene

  • GC12P026709
  • GC12P026359
  • GC12P026248
  • GC12P026239
  • GC12P026348
  • GC12P026275

Summaries for SSPN Gene

Entrez Gene Summary for SSPN Gene

  • 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]

GeneCards Summary for SSPN Gene

SSPN (Sarcospan) is a Protein Coding gene. Among its related pathways are Muscular Dystrophies and Dystrophin-Glycoprotein Complex.

UniProtKB/Swiss-Prot for SSPN Gene

  • Component of the dystrophin-glycoprotein complex (DGC), a complex that spans the muscle plasma membrane and forms a link between the F-actin cytoskeleton and the extracellular matrix. Preferentially associates with the sarcoglycan subcomplex of the DGC.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SSPN Gene

Genomics for SSPN Gene

Regulatory Elements for SSPN Gene

Enhancers for SSPN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F026194 0.4 ENCODE 35.7 +74.1 74098 2.3 SUZ12 L3MBTL2 MAX ZBTB8A ZIC2 RAD21 GLIS2 ZBTB48 POLR2A ZNF341 SSPN ENSG00000256234 BHLHE41 GC12P026202 GC12P026153
GH12F026198 0.6 Ensembl ENCODE 25.1 +76.7 76682 1.3 JUND SMARCA4 POLR2A MAFK SSPN BHLHE41 ENSG00000255750 ENSG00000255968 ENSG00000256234 TM7SF3 GC12P026202 GC12P026153
GH12F026185 0.7 ENCODE 21.2 +63.9 63862 0.8 PKNOX1 PRDM1 SSPN BHLHE41 ENSG00000255750 ENSG00000255968 ENSG00000256234 GC12P026202 GC12P026153
GH12F026176 0.4 ENCODE 18 +55.3 55336 1.3 SCRT2 SPI1 RELA SSPN BHLHE41 ENSG00000256894 GC12P026153 GC12P026202
GH12F026152 1.3 Ensembl ENCODE 16.9 +31.7 31745 2.2 TBP INSM2 SIN3A THRB RAD21 ZEB1 RARA SCRT2 RCOR1 FOS SSPN BHLHE41 ENSG00000255750 ENSG00000255968 ENSG00000256894 GC12P026153
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SSPN on UCSC Golden Path with GeneCards custom track

Genomic Location for SSPN Gene

Chromosome:
12
Start:
26,121,951 bp from pter
End:
26,299,290 bp from pter
Size:
177,340 bases
Orientation:
Plus strand

Genomic View for SSPN Gene

Genes around SSPN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SSPN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SSPN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SSPN Gene

Proteins for SSPN Gene

  • Protein details for SSPN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14714-SSPN_HUMAN
    Recommended name:
    Sarcospan
    Protein Accession:
    Q14714
    Secondary Accessions:
    • B3KS67

    Protein attributes for SSPN Gene

    Size:
    243 amino acids
    Molecular mass:
    26618 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SSPN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SSPN Gene

Post-translational modifications for SSPN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SSPN Gene

Domains & Families for SSPN Gene

Protein Domains for SSPN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SSPN Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SSPN: view

No data available for Gene Families and UniProtKB/Swiss-Prot for SSPN Gene

Function for SSPN Gene

Molecular function for SSPN Gene

GENATLAS Biochemistry:
sarcospan,dystrophin associated glycoprotein,25kDa,expressed and spanning in the sarcolemma,complexing with sarcoglycans in a stoichiometrically equal complex,expressed in skeletal muscle and in vascular smooth muscle,stabilizing the link between dystroglycan and dystrophin/utrophin
UniProtKB/Swiss-Prot Function:
Component of the dystrophin-glycoprotein complex (DGC), a complex that spans the muscle plasma membrane and forms a link between the F-actin cytoskeleton and the extracellular matrix. Preferentially associates with the sarcoglycan subcomplex of the DGC.
genes like me logo Genes that share phenotypes with SSPN: view

Animal Models for SSPN Gene

MGI Knock Outs for SSPN:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SSPN Gene

Localization for SSPN Gene

Subcellular locations from UniProtKB/Swiss-Prot for SSPN Gene

Cell membrane; Multi-pass membrane protein. Cell membrane, sarcolemma. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Note=Also found in myotendinous junctions and in the postsynaptic membrane of neuromuscular junctions. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SSPN Gene COMPARTMENTS Subcellular localization image for SSPN gene
Compartment Confidence
plasma membrane 5
cytoskeleton 1
endoplasmic reticulum 1
extracellular 1

Gene Ontology (GO) - Cellular Components for SSPN Gene

GO ID Qualified GO term Evidence PubMed IDs
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 --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with SSPN: view

Pathways & Interactions for SSPN Gene

genes like me logo Genes that share pathways with SSPN: view

Pathways by source for SSPN Gene

Gene Ontology (GO) - Biological Process for SSPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS 9395445
GO:0007155 cell adhesion TAS 9395445
genes like me logo Genes that share ontologies with SSPN: view

No data available for SIGNOR curated interactions for SSPN Gene

Transcripts for SSPN Gene

Unigene Clusters for SSPN Gene

Sarcospan:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SSPN Gene

No ASD Table

Relevant External Links for SSPN Gene

GeneLoc Exon Structure for
SSPN
ECgene alternative splicing isoforms for
SSPN

Expression for SSPN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SSPN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SSPN Gene

This gene is overexpressed in Muscle - Skeletal (x4.2).

Protein differential expression in normal tissues from HIPED for SSPN Gene

This gene is overexpressed in Gallbladder (13.6), Uterus (13.5), and Heart (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SSPN Gene



Protein tissue co-expression partners for SSPN Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SSPN Gene:

SSPN

SOURCE GeneReport for Unigene cluster for SSPN Gene:

Hs.183428

mRNA Expression by UniProt/SwissProt for SSPN Gene:

Q14714-SSPN_HUMAN
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.
genes like me logo Genes that share expression patterns with SSPN: view

Primer Products

Orthologs for SSPN Gene

This gene was present in the common ancestor of chordates.

Orthologs for SSPN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SSPN 34 35
  • 99.18 (n)
dog
(Canis familiaris)
Mammalia SSPN 34 35
  • 89.3 (n)
cow
(Bos Taurus)
Mammalia SSPN 34 35
  • 88.43 (n)
rat
(Rattus norvegicus)
Mammalia Sspn 34
  • 84.81 (n)
mouse
(Mus musculus)
Mammalia Sspn 34 16 35
  • 83.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SSPN 35
  • 64 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SSPN 35
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves SSPN 34 35
  • 68.46 (n)
lizard
(Anolis carolinensis)
Reptilia SSPN 35
  • 63 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.28936 34
zebrafish
(Danio rerio)
Actinopterygii sspn 34 35
  • 56.41 (n)
Species where no ortholog for SSPN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SSPN Gene

ENSEMBL:
Gene Tree for SSPN (if available)
TreeFam:
Gene Tree for SSPN (if available)

Paralogs for SSPN Gene

(1) SIMAP similar genes for SSPN Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SSPN: view

No data available for Paralogs for SSPN Gene

Variants for SSPN Gene

Sequence variations from dbSNP and Humsavar for SSPN Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs121912617 other 26,122,364(-) CGCCC(A/C/G)GTTCC intron-variant, reference, missense
rs1009766 -- 26,202,582(-) AAACC(C/T)ATGCC intron-variant
rs10161019 -- 26,140,315(+) gattt(G/T)aagga intron-variant
rs10161154 -- 26,164,612(+) CAGTG(A/G)CATTT intron-variant
rs10400499 -- 26,173,578(+) tcttc(C/T)ttttt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SSPN Gene

Variant ID Type Subtype PubMed ID
esv3628913 CNV loss 21293372
nsv473465 CNV novel sequence insertion 20440878
nsv648 CNV deletion 18451855

Variation tolerance for SSPN Gene

Residual Variation Intolerance Score: 84.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.60; 78.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SSPN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SSPN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SSPN Gene

Disorders for SSPN Gene

Relevant External Links for SSPN

Genetic Association Database (GAD)
SSPN
Human Genome Epidemiology (HuGE) Navigator
SSPN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SSPN

No disorders were found for SSPN Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SSPN Gene

Publications for SSPN Gene

  1. Coamplification in tumors of KRAS2, type 2 inositol 1,4,5 triphosphate receptor gene, and a novel human gene, KRAG. (PMID: 8661122) Heighway J. … Cowen R. (Genomics 1996) 2 3 4 22 64
  2. Sarcospan, the 25-kDa transmembrane component of the dystrophin- glycoprotein complex. (PMID: 9395445) Crosbie R.H. … Campbell K.P. (J. Biol. Chem. 1997) 2 3 4 64
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. (PMID: 20935629) Heid I.M. … Lindgren C.M. (Nat. Genet. 2010) 3 46 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for SSPN Gene

Sources for SSPN Gene

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