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SSPN sarcospan [ Homo sapiens (human) ]

Gene ID: 8082, updated on 3-Apr-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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Location:
12p12.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (26121991..26234777)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (25994639..26107318)
105.20220307 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

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Reduced expression of sarcospan in muscles of Fukuyama congenital muscular dystrophy. Wakayama Y, et al. Histol Histopathol, 2008 Dec. PMID 18830929
  2. 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
  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. Analysis of human sarcospan as a candidate gene for CFEOM1. O'Brien KF, et al. BMC Genet, 2001. PMID 11180757, Free PMC Article
  5. Formation of sarcoglycan complex with differentiation in cultured myocytes. Noguchi S, et al. Eur J Biochem, 2000 Feb. PMID 10651799

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)

Genotypes

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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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_2023_10

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

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

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

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

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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