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    SSPN sarcospan [ Homo sapiens (human) ]

    Gene ID: 8082, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SSPNprovided by HGNC
    Official Full Name
    sarcospanprovided by HGNC
    Primary source
    HGNC:HGNC:11322
    See related
    Ensembl:ENSG00000123096 MIM:601599; AllianceGenome:HGNC:11322
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KRAG; NSPN; SPN1; SPN2; DAGA5
    Summary
    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]
    Expression
    Ubiquitous expression in heart (RPKM 16.0), ovary (RPKM 15.7) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SSPN in Genome Data Viewer
    Location:
    12p12.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (26121991..26234777)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (25994639..26107318)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (26348269..26387710)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Ras association domain family member 8 Neighboring gene uncharacterized LOC107984501 Neighboring gene uncharacterized LOC124902901 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:26200376-26200975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4299 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4300 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4301 Neighboring gene basic helix-loop-helix family member e41 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26866 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:26379181-26379816 Neighboring gene ITPR2 and SSPN antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6118 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:26398995-26400194 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26902 Neighboring gene uncharacterized LOC105369705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6119 Neighboring gene uncharacterized LOC105369704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6120 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6121 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6122 Neighboring gene uncharacterized LOC107984482

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Formation of sarcoglycan complex with differentiation in cultured myocytes. Noguchi S, et al. Eur J Biochem, 2000 Feb. PMID 10651799
    2. Analysis of human sarcospan as a candidate gene for CFEOM1. O'Brien KF, et al. BMC Genet, 2001. PMID 11180757, Free PMC Article
    3. K-ras mutation in helicobacter pylori-associated chronic gastritis in patients with and without gastric cancer. Hiyama T, et al. Int J Cancer, 2002 Feb 10. PMID 11807778
    4. Over-expression of Microspan, a novel component of the sarcoplasmic reticulum, causes severe muscle pathology with triad abnormalities. Miller G, et al. J Muscle Res Cell Motil, 2006. PMID 16823602
    5. Reduced expression of sarcospan in muscles of Fukuyama congenital muscular dystrophy. Wakayama Y, et al. Histol Histopathol, 2008 Dec. PMID 18830929

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data indicate that Sspn is an Nkx2-5 modifier gene. Complete loss of Sspn function does not cause heart defects but does increase the incidence of muscular ventricular septal defects (VSDs) in combination with an Nkx2-5 mutation.
      Title: Nkx2-5 and Sarcospan genetically interact in the development of the muscular ventricular septum of the heart.
    2. Our data suggest TWIST1 and SSPN to be the functionally relevant androgenetic alopecia genes at the 7p21.1 and 12p12.1 risk loci, respectively.
      Title: Differential Expression between Human Dermal Papilla Cells from Balding and Non-Balding Scalps Reveals New Candidate Genes for Androgenetic Alopecia.
    3. When human SSPN is expressed at three-fold levels in mdx mice, this increase in adhesion complex abundance improves muscle membrane stability, preventing many of the histopathological changes associated with Duchenne muscular dystrophy
      Title: High levels of sarcospan are well tolerated and act as a sarcolemmal stabilizer to address skeletal muscle and pulmonary dysfunction in DMD.
    4. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
    5. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    7. decreased expression of sarcospan at the Fukuyama congenital muscular dystrophy myofiber surfaces.
      Title: Reduced expression of sarcospan in muscles of Fukuyama congenital muscular dystrophy.
    8. Human SSPN in transgegnic mice directly interacts with utrophin-glycoprotein comlpex and functions to stabilize utrophin protein without increasing utrophin transcription.
      Title: Sarcospan reduces dystrophic pathology: stabilization of the utrophin-glycoprotein complex.
    9. Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
      Title: Risk for K-ras gene mutations in smoking-induced lung cancer is associated with cytochrome P4501A1 and glutathione S-transferase micro1 polymorphisms.
    10. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: K-ras mutation in helicobacter pylori-associated chronic gastritis in patients with and without gastric cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell adhesion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in muscle contraction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of dystrophin-associated glycoprotein complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in sarcolemma IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in transport vesicle IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    sarcospan
    Names
    K-ras oncogene-associated protein
    Kras oncogene-associated
    kirsten-ras-associated protein
    microspan
    nanospan
    sarcospan (Kras oncogene-associated gene)

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012011.2 RefSeqGene

      Range
      78346..117787
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_209

    mRNA and Protein(s)

    1. NM_001135823.1 → NP_001129295.1  sarcospan isoform 2

      See identical proteins and their annotated locations for NP_001129295.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses a different segment for its 5' UTR and lacks a 5' coding segment which results in the use of a downstream start codon, compared to variant 1. The resulting protein (isoform 2) is shorter when it is compared to isoform 1.
      Source sequence(s)
      AC022509, AK092925, CA419006, DA073350
      Consensus CDS
      CCDS44850.1
      UniProtKB/TrEMBL
      F5H381
      Related
      ENSP00000396087.2, ENST00000422622.3
      Conserved Domains (1) summary
      pfam04103
      Location:9 → 107
      CD20; CD20-like family

    2. NM_005086.5 → NP_005077.2  sarcospan isoform 1

      See identical proteins and their annotated locations for NP_005077.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).
      Source sequence(s)
      AC022509
      Consensus CDS
      CCDS8707.1
      UniProtKB/Swiss-Prot
      B3KS67, Q14714
      UniProtKB/TrEMBL
      B2RAU1
      Related
      ENSP00000242729.2, ENST00000242729.7
      Conserved Domains (1) summary
      pfam04103
      Location:64 → 210
      CD20; CD20-like family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      26121991..26234777
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520853.4 → XP_011519155.1  sarcospan isoform X1

      See identical proteins and their annotated locations for XP_011519155.1

      UniProtKB/TrEMBL
      F5H381
      Related
      ENSP00000445360.1, ENST00000538142.5
      Conserved Domains (1) summary
      pfam04103
      Location:9 → 107
      CD20; CD20-like family

    2. XM_011520855.2 → XP_011519157.1  sarcospan isoform X1

      See identical proteins and their annotated locations for XP_011519157.1

      UniProtKB/TrEMBL
      F5H381
      Related
      ENSP00000442893.1, ENST00000540266.5
      Conserved Domains (1) summary
      pfam04103
      Location:9 → 107
      CD20; CD20-like family

    3. XM_011520854.3 → XP_011519156.1  sarcospan isoform X1

      See identical proteins and their annotated locations for XP_011519156.1

      UniProtKB/TrEMBL
      F5H381
      Conserved Domains (1) summary
      pfam04103
      Location:9 → 107
      CD20; CD20-like family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      25994639..26107318
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373295.1 → XP_054229270.1  sarcospan isoform X1

      UniProtKB/TrEMBL
      F5H381

    2. XM_054373296.1 → XP_054229271.1  sarcospan isoform X1

      UniProtKB/TrEMBL
      F5H381

    3. XM_054373297.1 → XP_054229272.1  sarcospan isoform X1

      UniProtKB/TrEMBL
      F5H381
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14714.3 GenPept UniProtKB/Swiss-Prot:Q14714

    Gene LinkOut

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