SSPN Gene (Protein Coding)

Sarcospan

GC12P026118
GIFtS:
36
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 differe... See more...

Aliases for SSPN Gene

Aliases for SSPN Gene

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

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. Diseases associated with SSPN include Short Sleep, Familial Natural, 1 and Adrenal Carcinoma. Among its related pathways are Muscular Dystrophies and Dystrophin-Glycoprotein Complex.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for SSPN Gene

Genomics for SSPN Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SSPN Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SSPN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SSPN

Top Transcription factor binding sites by QIAGEN in the SSPN gene promoter:
  • Cart-1
  • CUTL1
  • Lhx3a
  • S8
  • Zic1

Genomic Locations for SSPN Gene

Latest Assembly
chr12:26,121,951-26,299,290
(GRCh38/hg38)
Size:
177,340 bases
Orientation:
Plus strand

Previous Assembly
chr12:26,348,269-26,387,710
(GRCh37/hg19 by Entrez Gene)
Size:
39,442 bases
Orientation:
Plus strand

chr12:26,274,924-26,452,223
(GRCh37/hg19 by Ensembl)
Size:
177,300 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 Structure • Gene Density

RefSeq DNA sequence for SSPN Gene

Proteins for SSPN Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • 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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SSPN Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for SSPN

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:
  • Nanospan (A1YBP2_HUMAN)
  • cDNA FLJ35606 fis, clone SPLEN2009512, highly similar to Sarcospan (B3KS67_HUMAN)
  • Kirsten-ras-associated protein (SSPN_HUMAN)
genes like me logo Genes that share domains with SSPN: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SSPN Gene

Function for SSPN Gene

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for SSPN Gene

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.
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

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:
  • Sspn Sspn<tm1Kcam>
  • Sspn Sspn<tm1b(EUCOMM)Hmgu>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SSPN

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 2
cytoskeleton 2
endoplasmic reticulum 2
mitochondrion 1
nucleus 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for SSPN Gene

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 --
genes like me logo Genes that share ontologies with SSPN: view

Pathways & Interactions for SSPN Gene

PathCards logo

SuperPathways for SSPN Gene

SuperPathway Contained pathways
1 Muscular Dystrophies and Dystrophin-Glycoprotein Complex
Muscular Dystrophies and Dystrophin-Glycoprotein Complex
-
genes like me logo Genes that share pathways with SSPN: view

Pathways by source for SSPN Gene

1 Qiagen pathway for SSPN Gene
  • Muscular Dystrophies and Dystrophin-Glycoprotein Complex

SIGNOR curated interactions for SSPN Gene

Is inactivated by:

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

Drugs & Compounds for SSPN Gene

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for SSPN Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for SSPN Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SSPN

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

No ASD Table

Relevant External Links for SSPN Gene

GeneLoc Exon Structure for
SSPN

Expression for SSPN Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

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

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



Protein tissue co-expression partners for SSPN Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.6)
  • Eye(4.3)
  • Spleen(4.2)
  • Lung(4.1)
  • Heart(2.4)
genes like me logo Genes that share expression patterns with SSPN: view

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 30 31
  • 99.18 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SSPN 30 31
  • 89.3 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SSPN 30 31
  • 88.43 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Sspn 30
  • 84.81 (n)
Mouse
(Mus musculus)
 Mammalia Sspn 30 17 31
  • 83.41 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia SSPN 31
  • 64 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia SSPN 31
  • 46 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves SSPN 30 31
  • 68.46 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SSPN 31
  • 63 (a)
 OneToOne
African clawed frog
(Xenopus laevis)
 Amphibia Xl.28936 30
Zebrafish
(Danio rerio)
 Actinopterygii sspn 30 31
  • 56.41 (n)
 OneToOne
Species where no ortholog for SSPN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for SSPN: view image

Paralogs for SSPN Gene

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

  • SSPN_HUMAN
  • F5H0K2_HUMAN
  • F5H381_HUMAN
genes like me logo Genes that share paralogs with SSPN: view

No data available for Paralogs for SSPN Gene

Variants for SSPN Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SSPN Gene

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

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SSPN Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for SSPN Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for SSPN Gene

MalaCards: The human disease database

(17) MalaCards diseases for SSPN Gene - From: COP and GCD

Disorder Aliases PubMed IDs
short sleep, familial natural, 1
  • fnss1
adrenal carcinoma
  • carcinoma of the adrenal gland
rippling muscle disease 2
  • rmd2
autosomal recessive limb-girdle muscular dystrophy type 2f
  • delta-sarcoglycanopathy
autosomal recessive limb-girdle muscular dystrophy type 2c
  • autosomal recessive duchenne-like muscular dystrophy type 1
- elite association - COSMIC cancer census association via MalaCards
Search SSPN in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SSPN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SSPN: view

No data available for 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 23
  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
  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 41
  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 41
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

ExternalLinks

View latest publications for SSPN gene in Mastermind

Products for SSPN Gene

Sources for SSPN Gene