Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SGCA Gene

Aliases for SGCA Gene

  • Sarcoglycan Alpha 2 3 5
  • Adhalin 2 3 4
  • Sarcoglycan, Alpha (50kDa Dystrophin-Associated Glycoprotein) 2 3
  • 50 KDa Dystrophin-Associated Glycoprotein 3 4
  • Limb Girdle Muscular Dystrophy 2D 2 3
  • Dystroglycan-2 3 4
  • 50kD DAG 2 3
  • Alpha-SG 3 4
  • 50DAG 3 4
  • DAG2 3 4
  • ADL 3 4
  • SCARMD1 3
  • LGMD2D 3
  • DMDA2 3

External Ids for SGCA Gene

Previous HGNC Symbols for SGCA Gene

  • ADL

Previous GeneCards Identifiers for SGCA Gene

  • GC17P047841
  • GC17P050724
  • GC17P048583
  • GC17P048718
  • GC17P045598
  • GC17P048243
  • GC17P043610

Summaries for SGCA Gene

Entrez Gene Summary for SGCA Gene

  • This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

GeneCards Summary for SGCA Gene

SGCA (Sarcoglycan Alpha) is a Protein Coding gene. Diseases associated with SGCA include Muscular Dystrophy, Limb-Girdle, Type 2D and Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2D. Among its related pathways are Allograft rejection and Hypertrophic cardiomyopathy (HCM). GO annotations related to this gene include calcium ion binding. An important paralog of this gene is SGCE.

UniProtKB/Swiss-Prot for SGCA Gene

  • Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.

Gene Wiki entry for SGCA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SGCA Gene

Genomics for SGCA Gene

Regulatory Elements for SGCA Gene

Enhancers for SGCA Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SGCA on UCSC Golden Path with GeneCards custom track

Genomic Location for SGCA Gene

50,164,214 bp from pter
50,175,932 bp from pter
11,719 bases
Plus strand

Genomic View for SGCA Gene

Genes around SGCA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SGCA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SGCA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SGCA Gene

Proteins for SGCA Gene

  • Protein details for SGCA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A6NEB8
    • A8K3K7
    • Q13710
    • Q13712

    Protein attributes for SGCA Gene

    387 amino acids
    Molecular mass:
    42875 Da
    Quaternary structure:
    • Interacts with the syntrophin SNTA1. Cross-link to form 2 major subcomplexes: one consisting of SGCB, SGCD and SGCG and the other consisting of SGCB and SGCD. The association between SGCB and SGCG is particularly strong while SGCA is loosely associated with the other sarcoglycans (By similarity).

    Alternative splice isoforms for SGCA Gene


neXtProt entry for SGCA Gene

Proteomics data for SGCA Gene at MOPED

Post-translational modifications for SGCA Gene

  • Glycosylation at Asn 174 and Asn 246
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SGCA Gene

Domains & Families for SGCA Gene

Suggested Antigen Peptide Sequences for SGCA Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the sarcoglycan alpha/epsilon family.
  • Belongs to the sarcoglycan alpha/epsilon family.
genes like me logo Genes that share domains with SGCA: view

No data available for Gene Families for SGCA Gene

Function for SGCA Gene

Molecular function for SGCA Gene

GENATLAS Biochemistry:
sarcoglycan alpha,adhalin,dystrophin associated glycoprotein (50kDa),expressed in skeletal and cardiac muscle,associating with other sarcoglycans in a stoichiometrically equal complex,stabilizing the link between dystroglycan and dystrophin/utrophin
UniProtKB/Swiss-Prot Function:
Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.
genes like me logo Genes that share phenotypes with SGCA: view

Human Phenotype Ontology for SGCA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SGCA Gene

MGI Knock Outs for SGCA:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for SGCA Gene

Localization for SGCA Gene

Subcellular locations from UniProtKB/Swiss-Prot for SGCA Gene

Cell membrane, sarcolemma; Single-pass type I membrane protein. Cytoplasm, cytoskeleton.

Subcellular locations from

Jensen Localization Image for SGCA Gene COMPARTMENTS Subcellular localization image for SGCA gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
extracellular 3
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for SGCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005856 cytoskeleton IEA --
GO:0005911 cell-cell junction IEA --
GO:0016010 dystrophin-associated glycoprotein complex TAS 7937874
GO:0016012 sarcoglycan complex IEA,IBA --
GO:0045121 membrane raft IEA --
genes like me logo Genes that share ontologies with SGCA: view

Pathways & Interactions for SGCA Gene

genes like me logo Genes that share pathways with SGCA: view

Gene Ontology (GO) - Biological Process for SGCA Gene


No data available for SIGNOR curated interactions for SGCA Gene

Drugs & Compounds for SGCA Gene

(1) Additional Compounds for SGCA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SGCA: view

Transcripts for SGCA Gene

Unigene Clusters for SGCA Gene

Sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein):
Representative Sequences:

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

No ASD Table

Relevant External Links for SGCA Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SGCA Gene

mRNA expression in normal human tissues for SGCA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SGCA Gene

This gene is overexpressed in Muscle - Skeletal (x13.2), Artery - Aorta (x5.4), and Heart - Left Ventricle (x4.6).

Protein differential expression in normal tissues from HIPED for SGCA Gene

This gene is overexpressed in Heart (58.5) and Tonsil (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SGCA Gene

SOURCE GeneReport for Unigene cluster for SGCA Gene Hs.463412

mRNA Expression by UniProt/SwissProt for SGCA Gene

Tissue specificity: Most strongly expressed in skeletal muscle. Also expressed in cardiac muscle and, at much lower levels, in lung. In the fetus, most abundant in cardiac muscle and, at lower levels, in lung. Also detected in liver and kidney. Not expressed in brain.
genes like me logo Genes that share expression patterns with SGCA: view

Protein tissue co-expression partners for SGCA Gene

Primer Products

Orthologs for SGCA Gene

This gene was present in the common ancestor of animals.

Orthologs for SGCA Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia SGCA 35
  • 87.68 (n)
  • 89.15 (a)
  • 89 (a)
(Canis familiaris)
Mammalia SGCA 35
  • 88.46 (n)
  • 89.92 (a)
  • 88 (a)
(Mus musculus)
Mammalia Sgca 35
  • 84.15 (n)
  • 88.89 (a)
Sgca 16
Sgca 36
  • 89 (a)
(Pan troglodytes)
Mammalia SGCA 35
  • 98.91 (n)
  • 97.83 (a)
  • 97 (a)
(Rattus norvegicus)
Mammalia Sgca 35
  • 83.63 (n)
  • 87.86 (a)
(Monodelphis domestica)
Mammalia SGCA 36
  • 73 (a)
(Ornithorhynchus anatinus)
Mammalia SGCA 36
  • 68 (a)
(Gallus gallus)
Aves SGCA 36
  • 40 (a)
(Anolis carolinensis)
Reptilia SGCA 36
  • 52 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sgca 35
  • 56.82 (n)
  • 53.98 (a)
(Danio rerio)
Actinopterygii sgca 36
  • 41 (a)
fruit fly
(Drosophila melanogaster)
Insecta Scgalpha 36
  • 16 (a)
Species with no ortholog for SGCA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SGCA Gene

Gene Tree for SGCA (if available)
Gene Tree for SGCA (if available)

Paralogs for SGCA Gene

Paralogs for SGCA Gene

(1) SIMAP similar genes for SGCA Gene using alignment to 10 proteins:

genes like me logo Genes that share paralogs with SGCA: view

Variants for SGCA Gene

Sequence variations from dbSNP and Humsavar for SGCA Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_010387 Limb-girdle muscular dystrophy 2D (LGMD2D)
VAR_010388 Limb-girdle muscular dystrophy 2D (LGMD2D)
VAR_010389 Limb-girdle muscular dystrophy 2D (LGMD2D)
rs137852623 Limb-girdle muscular dystrophy 2D (LGMD2D) 50,170,245(+) CAGAC(C/G/T)GTGAC intron-variant, reference, missense
VAR_010402 Limb-girdle muscular dystrophy 2D (LGMD2D)

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

Variant ID Type Subtype PubMed ID
nsv908588 CNV Loss 21882294
dgv3225n71 CNV Loss 21882294
nsv507842 CNV Insertion 20534489

Variation tolerance for SGCA Gene

Residual Variation Intolerance Score: 78.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.04; 37.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SGCA Gene

Human Gene Mutation Database (HGMD)

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

Disorders for SGCA Gene

MalaCards: The human disease database

(20) MalaCards diseases for SGCA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy, limb-girdle, type 2d
  • adhalinopathy, primary
autosomal recessive limb-girdle muscular dystrophy type 2d
  • alpha-sarcoglycanopathy
limb-girdle muscular dystrophy
  • erb's muscular dystrophy
muscular dystrophy
  • muscular dystrophies
- elite association - COSMIC cancer census association via MalaCards
Search SGCA in MalaCards View complete list of genes associated with diseases


  • Limb-girdle muscular dystrophy 2D (LGMD2D) [MIM:608099]: An autosomal recessive degenerative myopathy characterized by progressive muscle wasting from early childhood with loss of independent ambulation by teenage years. Muscle biopsy shows necrosis, decreased immunostaining for alpha sarcoglycan, and adhalin deficiency. {ECO:0000269 PubMed:7657792, ECO:0000269 PubMed:7663524, ECO:0000269 PubMed:8069911, ECO:0000269 PubMed:8528203, ECO:0000269 PubMed:9032047, ECO:0000269 PubMed:9192266, ECO:0000269 PubMed:9585331}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SGCA

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SGCA: view

No data available for Genatlas for SGCA Gene

Publications for SGCA Gene

  1. Human adhalin is alternatively spliced and the gene is on chromosome 17q21. (PMID: 7937874) McNally E. … Kunkel L.M. (Proc. Natl. Acad. Sci. U.S.A. 1994) 2 3 4 23 67
  2. Identification of two E-boxes that negatively modulate the activity of MyoD on the alpha-sarcoglycan core promoter. (PMID: 18078839) Delgado-OlguA-n P. … Coral-VA!zquez R.M. (Biochim. Biophys. Acta 2008) 3 23
  3. Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood. (PMID: 15298081) Walter M.C. … LochmA1ller H. (Acta Myol 2004) 3 23
  4. Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). (PMID: 9192266) Carrie A. … Jeanpierre M. (J. Med. Genet. 1997) 3 23
  5. Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency. (PMID: 7657792) Kawai H. … Saito S. (J. Clin. Invest. 1995) 3 23

Products for SGCA Gene

Sources for SGCA Gene