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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
  • Alpha-Sarcoglycan 3
  • 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 Limb-Girdle Muscular Dystrophy. Among its related pathways are Allograft rejection and Dilated cardiomyopathy (DCM). Gene Ontology (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

Additional gene information for SGCA Gene

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

Genomics for SGCA Gene

GeneHancer (GH) Regulatory Elements for SGCA Gene

Promoters and enhancers for SGCA Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I050163 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 609.6 +1.0 1037 3.2 HDGF PKNOX1 NFIB ZSCAN4 KLF17 ZNF335 EGR1 IKZF2 EGR2 SMARCA5 SGCA LOC105371818 ENSG00000261959 SAMD14
GH17I050171 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 58.5 +28.3 28308 42 CLOCK DMAP1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 MEF2D COL1A1 SGCA ENSG00000262837 LUC7L3 TMEM92-AS1 TMEM92 XYLT2 ZNF652 PPP1R9B FLJ45513
GH17I050168 Enhancer 1.2 Ensembl ENCODE 46.7 +5.4 5423 1.6 HDGF FOXA2 ARNT ZNF2 ZBTB7B IRF4 ZNF213 E2F8 ZNF207 ZNF143 SGCA PICART1 LUC7L3 COL1A1 ENSG00000262837 NME2 FAM117A CACNA1G-AS1 NXPH3 LOC105371824
GH17I050288 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.7 +125.6 125607 3.5 BATF BRCA1 RAD21 ZBTB40 RFX5 ZNF335 ZNF766 ZNF416 RCOR1 FOS TMEM92-AS1 KAT7 COL1A1 HILS1 SGCA ENSG00000253730 MBTD1 DLX3 ENSG00000248172 PPP1R9B
GH17I050099 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.2 -62.6 -62612 3.6 ATF1 FOXA2 MLX ARID4B ETS1 YY1 ZNF766 GLIS2 SP3 RXRA ENSG00000250282 PDK2 ENSG00000262837 ENSG00000253730 SGCA HILS1 SAMD14 PICART1 ENSG00000275025
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SGCA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SGCA gene promoter:

Genomic Locations for SGCA Gene

Genomic Locations for SGCA Gene
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

Post-translational modifications for SGCA Gene

  • Glycosylation at posLast=174174 and isoforms=246

No data available for DME Specific Peptides for SGCA Gene

Domains & Families for SGCA Gene

Gene Families for SGCA Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

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

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.

Phenotypes From GWAS Catalog for SGCA Gene

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

Human Phenotype Ontology for SGCA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SGCA Gene

MGI Knock Outs for SGCA:

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SGCA gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
extracellular 3
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 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:0005886 plasma membrane IEA --
GO:0005911 cell-cell junction IEA --
GO:0016010 dystrophin-associated glycoprotein complex TAS 7937874
genes like me logo Genes that share ontologies with SGCA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SGCA Gene

Pathways & Interactions for SGCA Gene

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

Gene Ontology (GO) - Biological Process for SGCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS 8069911
GO:0007517 muscle organ development TAS 7663524
GO:0014894 response to denervation involved in regulation of muscle adaptation IEA --
GO:0043403 skeletal muscle tissue regeneration IEA --
GO:0061024 membrane organization IBA --
genes like me logo Genes that share ontologies with SGCA: view

No data available for SIGNOR curated interactions for SGCA Gene

Drugs & Compounds for SGCA Gene

(1) Drugs for SGCA Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Protein tissue co-expression partners for SGCA Gene

NURSA nuclear receptor signaling pathways regulating expression of SGCA Gene:


SOURCE GeneReport for Unigene cluster for SGCA Gene:


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.

Evidence on tissue expression from TISSUES for SGCA Gene

  • Muscle(4.8)
  • Heart(4.5)
  • Pancreas(4)
  • Spleen(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SGCA Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • head
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shin
  • shoulder
  • toe
  • upper limb
  • wrist
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with SGCA: view

Orthologs for SGCA Gene

This gene was present in the common ancestor of animals.

Orthologs for SGCA Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SGCA 33 34
  • 98.91 (n)
(Canis familiaris)
Mammalia SGCA 33 34
  • 88.46 (n)
(Bos Taurus)
Mammalia SGCA 33 34
  • 87.68 (n)
(Mus musculus)
Mammalia Sgca 33 16 34
  • 84.15 (n)
(Rattus norvegicus)
Mammalia Sgca 33
  • 83.63 (n)
(Monodelphis domestica)
Mammalia SGCA 34
  • 73 (a)
(Ornithorhynchus anatinus)
Mammalia SGCA 34
  • 68 (a)
(Gallus gallus)
Aves SGCA 34
  • 40 (a)
(Anolis carolinensis)
Reptilia SGCA 34
  • 52 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sgca 33
  • 56.82 (n)
(Danio rerio)
Actinopterygii sgca 34
  • 41 (a)
fruit fly
(Drosophila melanogaster)
Insecta Scgalpha 34
  • 16 (a)
Species where no ortholog for SGCA was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1057516242 likely-pathogenic, Limb-girdle muscular dystrophy, type 2D 50,168,499(+) C/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant, stop_gained
rs1057516300 likely-pathogenic, Limb-girdle muscular dystrophy, type 2D 50,167,580(+) A/G intron_variant, splice_acceptor_variant
rs1057516548 likely-pathogenic, Limb-girdle muscular dystrophy, type 2D 50,170,149(+) AA/A coding_sequence_variant, downstream_transcript_variant, frameshift, genic_downstream_transcript_variant, intron_variant
rs1057516650 likely-pathogenic, Limb-girdle muscular dystrophy, type 2D 50,167,945(+) A/G splice_acceptor_variant
rs1057516664 likely-pathogenic, Limb-girdle muscular dystrophy, type 2D 50,168,568(+) G/T coding_sequence_variant, non_coding_transcript_variant, stop_gained

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

Variant ID Type Subtype PubMed ID
nsv507842 OTHER sequence alteration 20534489
nsv952339 CNV deletion 24416366

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)

Additional Variant Information for SGCA Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for SGCA Gene

MalaCards: The human disease database

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

- 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.

Additional Disease Information for SGCA

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 located on chromosome 17q21. (PMID: 7937874) McNally EM … Kunkel LM (Proceedings of the National Academy of Sciences of the United States of America 1994) 2 3 4 22 58
  2. Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). (PMID: 9192266) Carrié A … Jeanpierre M (Journal of medical genetics 1997) 3 4 22 58
  3. Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency. (PMID: 7657792) Kawai H … Shin S (The Journal of clinical investigation 1995) 3 4 22 58
  4. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. (PMID: 7663524) Piccolo F … Reghis A (Nature genetics 1995) 3 4 22 58
  5. 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 MR … Zatz M (Human molecular genetics 1995) 3 4 22 58

Products for SGCA Gene

Sources for SGCA Gene

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