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SSPN Gene(Protein Coding)

Sarcospan

GCID:
GC12P026118
GIFtS:
42
Genes Participants
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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.

Additional gene information for SSPN Gene

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

Genomics for SSPN Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for SSPN Gene

Promoters and enhancers for SSPN Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH12I026119 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 556.8 +1.4 1361 8.2 PKNOX1 CLOCK FEZF1 DMAP1 ZNF2 FOS KLF13 SP3 REST SMARCB1 SSPN BHLHE41 TDGP1 ENSG00000256894
GH12I026194 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 585.7 +74.1 74098 2.3 MXI1 L3MBTL2 SUZ12 MAX ZBTB8A ZIC2 ZNF335 GLIS2 POLR2A ZBTB48 SSPN ENSG00000256234 BHLHE41 GC12P026202 GC12M026191 GC12P026153
GH12I026206 Promoter 0.5 EPDnew 560.1 +84.6 84631 0.1 SSPN BHLHE41 ENSG00000256234 GC12P026202 GC12M026191
GH12I026268 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +150.6 150638 8.1 MLX FEZF1 SLC30A9 ZNF213 ZNF143 SP3 ZNF610 GLIS1 RCOR2 NBN RASSF8-AS1 BHLHE41 C12orf71 RASSF8 ENSG00000255750 ENSG00000255968 LOC729222 ENSG00000256234 SSPN TDGP1
GH12I026152 Enhancer 1 Ensembl ENCODE 16.9 +31.6 31608 1.9 FOXA2 INSM2 RAD21 THRB RARA ZEB1 SCRT2 RCOR1 FOS CEBPB GC12P026153 SSPN BHLHE41 ENSG00000255750 ENSG00000255968 ENSG00000256894
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SSPN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SSPN gene promoter:

Genomic Locations for SSPN Gene

Genomic Locations for SSPN Gene
chr12:26,121,951-26,299,290
(GRCh38/hg38)
Size:
177,340 bases
Orientation:
Plus strand
chr12:26,274,924-26,452,223
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for SSPN Gene

Proteins for SSPN Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for SSPN Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SSPN Gene

No Post-translational modifications

Other Protein References for SSPN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SSPN Gene

Domains & Families for SSPN Gene

Gene Families for SSPN Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for SSPN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SSPN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

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

Function for SSPN Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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.

Phenotypes From GWAS Catalog for SSPN Gene

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

Animal Models for SSPN Gene

MGI Knock Outs for SSPN:

Animal Model Products

CRISPR Products

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SSPN gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (2)
  • Nucleus (2)
See all subcellular structures

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

Drugs & Compounds for SSPN Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for SSPN Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SSPN Gene

(5) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(138) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SSPN Gene

Sarcospan:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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

Products:

  1. Primer

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

mRNA expression in normal human tissues for SSPN Gene
mRNA expression by GTEx for SSPN GenemRNA expression by BioGPS 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.

Evidence on tissue expression from TISSUES for SSPN Gene

  • Nervous system(4.7)
  • Muscle(4.5)
  • Eye(4.1)
  • Lung(4.1)
  • Spleen(4.1)
genes like me logo Genes that share expression patterns with SSPN: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SSPN Gene

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 33 34
  • 99.18 (n)
dog
(Canis familiaris)
 Mammalia SSPN 33 34
  • 89.3 (n)
cow
(Bos Taurus)
 Mammalia SSPN 33 34
  • 88.43 (n)
rat
(Rattus norvegicus)
 Mammalia Sspn 33
  • 84.81 (n)
mouse
(Mus musculus)
 Mammalia Sspn 33 16 34
  • 83.41 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia SSPN 34
  • 64 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia SSPN 34
  • 46 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves SSPN 33 34
  • 68.46 (n)
lizard
(Anolis carolinensis)
 Reptilia SSPN 34
  • 63 (a)
 OneToOne
African clawed frog
(Xenopus laevis)
 Amphibia Xl.28936 33
zebrafish
(Danio rerio)
 Actinopterygii sspn 33 34
  • 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 Variation AA Info Type
rs121912617 affects, Short-sleeper 26,122,364(+) G/A/C/T genic_upstream_transcript_variant, intron_variant
rs1000004037 -- 26,205,166(+) C/A genic_upstream_transcript_variant, intron_variant
rs1000006207 -- 26,174,140(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000010744 -- 26,159,946(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000064647 -- 26,127,799(+) A/G genic_upstream_transcript_variant, intron_variant

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

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

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)

Additional Variant Information 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

Additional Disease Information for SSPN

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

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 58
  2. Sarcospan, the 25-kDa transmembrane component of the dystrophin-glycoprotein complex. (PMID: 9395445) Crosbie RH … Campbell KP (The Journal of biological chemistry 1997) 2 3 4 58
  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 SD … DREAM investigators (Diabetes care 2010) 3 44 58
  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 IM … Lindgren CM (Nature genetics 2010) 3 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for SSPN Gene

Sources for SSPN Gene

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