SSPN sarcospan [Homo sapiens (human)] - Gene

Summary

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

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
decreased expression of sarcospan at the Fukuyama congenital muscular dystrophy myofiber surfaces.
Title: Reduced expression of sarcospan in muscles of Fukuyama congenital muscular dystrophy.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC29083P1 (e-PCR)
- UniSTS:272427

PMC29083P2 (e-PCR)
- UniSTS:272428

PMC29083P3 (e-PCR)
- UniSTS:272429

PMC29083P4 (e-PCR)
- UniSTS:272430

PMC29083P5 (e-PCR)
- UniSTS:272431

D12S1413 (e-PCR)
- UniSTS:17727

SHGC-83023 (e-PCR)
- UniSTS:170123

RH66809 (e-PCR)
- UniSTS:43941

RH78441 (e-PCR)
- UniSTS:25562

SHGC-24297 (e-PCR)
- UniSTS:36856

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

NG_012011.2 RefSeqGene

Range

78346..117787

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_209

mRNA and Protein(s)

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
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