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Aliases for SGCA Gene

Aliases for SGCA Gene

  • Sarcoglycan, Alpha (50kDa Dystrophin-Associated Glycoprotein) 2 3
  • 50 KDa Dystrophin-Associated Glycoprotein 3 4
  • Dystroglycan-2 3 4
  • 50kD DAG 2 3
  • Alpha-SG 3 4
  • Adhalin 3 4
  • 50DAG 3 4
  • DAG2 3 4
  • ADL 3 4
  • Sarcoglycan, Alpha (50kD Dystrophin-Associated Glycoprotein) 2
  • Alpha (50kD Dystrophin-Associated Glycoprotein; Adhalin) 2
  • Adhalin (Limb Girdle Muscular Dystrophy 2D) 2
  • Alpha-Sarcoglycan 3
  • Sarcoglycan 2
  • Adhalin) 6
  • SCARMD1 3
  • 50-DAG 3
  • LGMD2D 3
  • DMDA2 3
  • A2 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 (50kDa Dystrophin-Associated Glycoprotein)) is a Protein Coding gene. Diseases associated with SGCA include muscular dystrophy, limb-girdle, type 2d and sarcoglycanopathies. Among its related pathways are Hypertrophic cardiomyopathy (HCM) 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

Genomic Location for SGCA Gene

Start:
50,164,214 bp from pter
End:
50,175,932 bp from pter
Size:
11,719 bases
Orientation:
Plus strand

Genomic View for SGCA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q16586-SGCA_HUMAN
    Recommended name:
    Alpha-sarcoglycan
    Protein Accession:
    Q16586
    Secondary Accessions:
    • A6NEB8
    • A8K3K7
    • Q13710
    • Q13712

    Protein attributes for SGCA Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for SGCA Gene

Proteomics data for SGCA Gene at MOPED

Post-translational modifications for SGCA Gene

  • Glycosylation at Asn174 and Asn246
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for SGCA (alpha-Sarcoglycan)

No data available for DME Specific Peptides for SGCA Gene

Domains for SGCA Gene

Suggested Antigen Peptide Sequences for SGCA Gene

Graphical View of Domain Structure for InterPro Entry

Q16586

UniProtKB/Swiss-Prot:

SGCA_HUMAN :
  • Q16586
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

Gene Ontology (GO) - Molecular Function for SGCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 21516116
genes like me logo Genes that share ontologies with SGCA: view
genes like me logo Genes that share phenotypes with SGCA: view

Animal Models for SGCA Gene

MGI Knock Outs for SGCA:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SGCA

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for SGCA Gene COMPARTMENTS Subcellular localization image for SGCA gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytoskeleton 2
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SGCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005911 cell-cell junction IEA --
GO:0016010 dystrophin-associated glycoprotein complex TAS 7937874
GO:0016011 dystroglycan complex --
genes like me logo Genes that share ontologies with SGCA: view

Pathways for SGCA Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for SGCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction IEA --
GO:0007517 muscle organ development IEA --
genes like me logo Genes that share ontologies with SGCA: view

Compounds for SGCA Gene

(1) Novoseek inferred chemical compound relationships for SGCA Gene

Compound -log(P) Hits PubMed IDs
creatinine 24.7 1
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SGCA

Primer Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for SGCA Gene

GeneLoc Exon Structure for
SGCA
ECgene alternative splicing isoforms for
SGCA

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 (13.2), Artery - Aorta (5.4), and Heart - Left Ventricle (4.6).

Integrated Proteomics: protein expression 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

Q16586-SGCA_HUMAN
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 expressions with SGCA: view

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia SGCA 35
  • 98.91 (n)
  • 97.83 (a)
SGCA 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SGCA 35
  • 87.68 (n)
  • 89.15 (a)
SGCA 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SGCA 35
  • 88.46 (n)
  • 89.92 (a)
SGCA 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sgca 35
  • 84.15 (n)
  • 88.89 (a)
Sgca 16
Sgca 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SGCA 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SGCA 36
  • 68 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sgca 35
  • 83.63 (n)
  • 87.86 (a)
chicken
(Gallus gallus)
Aves SGCA 36
  • 40 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SGCA 36
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sgca 35
  • 56.82 (n)
  • 53.98 (a)
zebrafish
(Danio rerio)
Actinopterygii sgca 36
  • 41 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Scgalpha 36
  • 16 (a)
OneToMany
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

ENSEMBL:
Gene Tree for SGCA (if available)
TreeFam:
Gene Tree for SGCA (if available)

Paralogs for SGCA Gene

Paralogs for SGCA Gene

Selected 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 MAF
rs1801190 Likely benign 50,168,516(+) GTCAC(C/T)TCTGC reference, synonymous-codon
rs1801191 Benign 50,170,328(+) TATGT(C/T)ATGTG reference, synonymous-codon, intron-variant
rs1801192 -- 50,175,768(+) AGTGG(C/T)ACATC utr-variant-3-prime
rs1802614 -- 50,175,832(+) AGGGA(G/T)AGGGG utr-variant-3-prime
rs2293533 -- 50,168,079(-) CCCTC(C/T)GGGAG intron-variant

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

Relevant External Links for SGCA Gene

HapMap Linkage Disequilibrium report
SGCA
Human Gene Mutation Database (HGMD)
SGCA
Locus Specific Mutation Databases (LSDB)
SGCA

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

Disorders for SGCA Gene

(1) OMIM Diseases for SGCA Gene (600119)

UniProtKB/Swiss-Prot

SGCA_HUMAN
  • 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.

(2) University of Copenhagen DISEASES for SGCA Gene

(15) Novoseek inferred disease relationships for SGCA Gene

Disease -log(P) Hits PubMed IDs
muscular dystrophies 92 55
lgmd2e 90.1 3
muscular dystrophy limb-girdle 89.7 8
lgmd2f 87.7 3
muscular dystrophy, limb-girdle, autosomal recessive 86.7 2
genes like me logo Genes that share disorders with SGCA: view

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
  2. 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 4 23
  3. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. (PMID: 7663524) Piccolo F. … Kaplan J.-C. (Nat. Genet. 1995) 3 4 23
  4. A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy. (PMID: 8528203) Bueno M.R.P. … Zatz M. (Hum. Mol. Genet. 1995) 3 4 23
  5. 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 4 23

Products for SGCA Gene

Sources for SGCA Gene

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