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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 Arrhythmogenic right ventricular cardiomyopathy (ARVC). 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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G050171 2.1 FANTOM5 Ensembl ENCODE dbSUPER 58.5 +28.3 28308 42.0 CREB3L1 ZFP64 DMAP1 YBX1 FEZF1 YY1 ZNF143 ZNF263 SP3 TBX21 SGCA ENSG00000262837 CACNA1G-AS1 MYCBPAP LOC105371824 FLJ45513 NXPH3 TMEM92-AS1 COL1A1 TMEM92
GH17G050163 1.5 Ensembl ENCODE dbSUPER 59.6 +1.0 1038 3.2 HDGF ATF1 PKNOX1 WRNIP1 ZNF766 GATA2 ELK1 FOS CAVIN1 JUNB SGCA SAMD14 ENSG00000261959
GH17G050168 1.3 Ensembl ENCODE 46.7 +5.4 5424 1.6 HDGF PKNOX1 ARNT SIN3A FEZF1 ZNF2 ZBTB7B ZNF143 ZNF207 DEK SGCA CACNA1G-AS1 NXPH3 LOC105371818 HILS1
GH17G050288 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.7 +125.6 125607 3.5 TBP HDAC1 BRCA1 RAD21 RFX5 TCF12 ZNF766 ZNF416 RCOR1 FOS KAT7 COL1A1 HILS1 SGCA ENSG00000253730 ENSG00000248172 DLX3 PPP1R9B TMEM92-AS1 XYLT2
GH17G050099 1.5 Ensembl ENCODE dbSUPER 11.2 -62.6 -62612 3.6 ATF1 FOXA2 MLX ARID4B E2F7 YY1 ZNF766 GLIS2 FOS ZNF263 PDK2 ENSG00000262837 ENSG00000253730 SGCA HILS1 SAMD14 PICART1 ENSG00000275025 ENSG00000250282
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SGCA on UCSC Golden Path with GeneCards custom track

Genomic Location for SGCA Gene

Chromosome:
17
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

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:
    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

Post-translational modifications for SGCA Gene

  • Glycosylation at isoforms=2174 and Asn246
  • 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

Q16586

UniProtKB/Swiss-Prot:

SGCA_HUMAN :
  • Belongs to the sarcoglycan alpha/epsilon family.
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

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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SGCA

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

COMPARTMENTS
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

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) 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:

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SGCA

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 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:

SGCA

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.

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

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
chimpanzee
(Pan troglodytes)
Mammalia SGCA 34 35
  • 98.91 (n)
dog
(Canis familiaris)
Mammalia SGCA 34 35
  • 88.46 (n)
cow
(Bos Taurus)
Mammalia SGCA 34 35
  • 87.68 (n)
mouse
(Mus musculus)
Mammalia Sgca 34 16 35
  • 84.15 (n)
rat
(Rattus norvegicus)
Mammalia Sgca 34
  • 83.63 (n)
oppossum
(Monodelphis domestica)
Mammalia SGCA 35
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SGCA 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves SGCA 35
  • 40 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SGCA 35
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sgca 34
  • 56.82 (n)
zebrafish
(Danio rerio)
Actinopterygii sgca 35
  • 41 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Scgalpha 35
  • 16 (a)
OneToMany
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

ENSEMBL:
Gene Tree for SGCA (if available)
TreeFam:
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
rs137852621 Pathogenic, Limb-girdle muscular dystrophy 2D (LGMD2D) [MIM:608099] 50,167,717(+) AGATC(A/C/G)TGGGC intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense
rs137852622 Pathogenic, Limb-girdle muscular dystrophy 2D (LGMD2D) [MIM:608099] 50,168,512(+) CAACG(C/T)CACCT nc-transcript-variant, upstream-variant-2KB, reference, missense
rs137852623 Pathogenic, Limb-girdle muscular dystrophy 2D (LGMD2D) [MIM:608099] 50,170,245(+) CAGAC(C/G/T)GTGAC intron-variant, downstream-variant-500B, reference, missense
rs138945081 Likely pathogenic, Limb-girdle muscular dystrophy 2D (LGMD2D) [MIM:608099] 50,167,716(+) AAGAT(C/T)GTGGG intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense
rs143570936 Pathogenic, Limb-girdle muscular dystrophy 2D (LGMD2D) [MIM:608099] 50,169,246(+) GCAAT(A/G)TGACC intron-variant, nc-transcript-variant, reference, missense

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)

Relevant External Links for SGCA Gene

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

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

Disorders for SGCA Gene

MalaCards: The human disease database

(23) 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
  • autosomal recessive limb-girdle muscular dystrophy type 2d
limb-girdle muscular dystrophy
  • lgmd
muscular dystrophy
  • muscular dystrophies
autosomal recessive limb-girdle muscular dystrophy
  • limb-girdle muscular dystrophies, autosomal recessive
progressive muscular dystrophy
  • muscular dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search SGCA in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for SGCA

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 on chromosome 17q21. (PMID: 7937874) McNally E. … Kunkel L.M. (Proc. Natl. Acad. Sci. U.S.A. 1994) 2 3 4 22 64
  2. 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 22 64
  3. 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 22 64
  4. 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 22 64
  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 M.R.P. … Zatz M. (Hum. Mol. Genet. 1995) 3 4 22 64

Products for SGCA Gene

Sources for SGCA Gene

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