Human Gene SGCA (uc002iqi.3) Description and Page Index
  Description: Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.
RefSeq Summary (NM_000023): 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].
Transcript (Including UTRs)
   Position: hg19 chr17:48,243,366-48,253,293 Size: 9,928 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr17:48,243,402-48,252,798 Size: 9,397 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:48,243,366-48,253,293)mRNA (may differ from genome)Protein (387 aa)
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-  Comments and Description Text from UniProtKB
  ID: SGCA_HUMAN
DESCRIPTION: RecName: Full=Alpha-sarcoglycan; Short=Alpha-SG; AltName: Full=50 kDa dystrophin-associated glycoprotein; Short=50DAG; AltName: Full=Adhalin; AltName: Full=Dystroglycan-2; Flags: Precursor;
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.
SUBUNIT: 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).
SUBCELLULAR LOCATION: Cell membrane, sarcolemma; Single-pass type I membrane protein (By similarity). Cytoplasm, cytoskeleton (By similarity).
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.
DISEASE: Defects in SGCA are the cause of limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]; also known as Duchenne- like muscular dystrophy autosomal recessive type 2 or severe childhood autosomal recessive muscular dystrophy (SCARMD). LGMD2D is 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. The phenotype is less severe than LGMD2C.
SIMILARITY: Belongs to the sarcoglycan alpha/epsilon family.
WEB RESOURCE: Name=Leiden Muscular Dystrophy pages; Note=SGCA mutations in LGMD2D; URL="http://www.dmd.nl/sgca_home.html";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SGCA";

-  MalaCards Disease Associations
  MalaCards Gene Search: SGCA
Diseases sorted by gene-association score: muscular dystrophy, limb-girdle, type 2d* (1669), limb-girdle muscular dystrophy (50), autosomal recessive limb-girdle muscular dystrophy (29), muscular dystrophy (28), sarcoglycanopathies (18), autosomal recessive limb-girdle muscular dystrophy type 2f (16), muscular dystrophy, limb-girdle, type 2c (13), progressive muscular dystrophy (13), dmd-associated dilated cardiomyopathy (11), becker muscular dystrophy (10), autosomal recessive limb-girdle muscular dystrophy type 2e (10), autosomal recessive limb-girdle muscular dystrophy type 2b (10), walker-warburg syndrome (8), muscular dystrophy, limb-girdle, type 2a (8), muscular dystrophy, congenital merosin-deficient (6), subependymal glioma (5), muscle tissue disease (5), dilated cardiomyopathy (4), myopathy (4), muscle eye brain disease (4), duchenne muscular dystrophy (3), arrhythmogenic right ventricular cardiomyopathy (3), cardiomyopathy (3), muscular dystrophy, congenital (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 99.78 RPKM in Muscle - Skeletal
Total median expression: 574.35 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -10.2036-0.283 Picture PostScript Text
3' UTR -85.10233-0.365 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006644 - Cadg
IPR015919 - Cadherin-like
IPR008908 - Sarcoglycan_2

Pfam Domains:
PF05510 - Sarcoglycan alpha/epsilon

SCOP Domains:
49313 - Cadherin-like

ModBase Predicted Comparative 3D Structure on Q16586
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
    Gene Details 
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    WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0005515 protein binding

Biological Process:
GO:0006936 muscle contraction
GO:0007517 muscle organ development
GO:0014894 response to denervation involved in regulation of muscle adaptation
GO:0043403 skeletal muscle tissue regeneration
GO:0061024 membrane organization

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0016010 dystrophin-associated glycoprotein complex
GO:0016011 dystroglycan complex
GO:0016012 sarcoglycan complex
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0042383 sarcolemma
GO:0045121 membrane raft


-  Descriptions from all associated GenBank mRNAs
  AK300710 - Homo sapiens cDNA FLJ56722 complete cds, highly similar to Alpha-sarcoglycan precursor.
L46810 - Human adhalin mRNA with an R266C mutation causing a mild form of autosomal recessive limb-girdle muscular dystrophy.
L35853 - Homo sapiens adhalin-35 mRNA, complete cds.
L34355 - Homo sapiens clone p4 50 kD dystrophin-associated glycoprotein precursor mRNA, complete cds.
AK293614 - Homo sapiens cDNA FLJ50751 complete cds, highly similar to Alpha-sarcoglycan precursor.
AK290622 - Homo sapiens cDNA FLJ75653 complete cds, highly similar to Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), mRNA.
BC025702 - Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein), mRNA (cDNA clone MGC:34551 IMAGE:5222483), complete cds.
U08895 - Human adhalin (DAG2) mRNA, complete cds.
AB464188 - Synthetic construct DNA, clone: pF1KB6524, Homo sapiens SGCA gene for sarcoglycan alpha, without stop codon, in Flexi system.
DQ893777 - Synthetic construct Homo sapiens clone IMAGE:100008237; FLH167478.01L; RZPDo839B0389D sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA) gene, encodes complete protein.
CU693018 - Synthetic construct Homo sapiens gateway clone IMAGE:100019192 5' read SGCA mRNA.
KJ892132 - Synthetic construct Homo sapiens clone ccsbBroadEn_01526 SGCA gene, encodes complete protein.
KR710659 - Synthetic construct Homo sapiens clone CCSBHm_00015445 SGCA (SGCA) mRNA, encodes complete protein.
KR710660 - Synthetic construct Homo sapiens clone CCSBHm_00015454 SGCA (SGCA) mRNA, encodes complete protein.
KR710661 - Synthetic construct Homo sapiens clone CCSBHm_00015475 SGCA (SGCA) mRNA, encodes complete protein.
KR710662 - Synthetic construct Homo sapiens clone CCSBHm_00015485 SGCA (SGCA) mRNA, encodes complete protein.
KU178331 - Homo sapiens sarcoglycan alpha isoform 1 (SGCA) mRNA, partial cds.
KU178332 - Homo sapiens sarcoglycan alpha isoform 2 (SGCA) mRNA, partial cds.
JD104733 - Sequence 85757 from Patent EP1572962.
JD392480 - Sequence 373504 from Patent EP1572962.
JD133975 - Sequence 114999 from Patent EP1572962.
JD174967 - Sequence 155991 from Patent EP1572962.
JD155332 - Sequence 136356 from Patent EP1572962.
JD401100 - Sequence 382124 from Patent EP1572962.
JD159310 - Sequence 140334 from Patent EP1572962.
JD108417 - Sequence 89441 from Patent EP1572962.
JD446028 - Sequence 427052 from Patent EP1572962.
JD350026 - Sequence 331050 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa05410 - Hypertrophic cardiomyopathy (HCM)
hsa05412 - Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414 - Dilated cardiomyopathy
hsa05416 - Viral myocarditis

-  Other Names for This Gene
  Alternate Gene Symbols: A6NEB8, A8K3K7, ADL, DAG2, NM_000023, NP_000014, Q13710, Q13712, Q16586, SGCA_HUMAN
UCSC ID: uc002iqi.3
RefSeq Accession: NM_000023
Protein: Q16586 (aka SGCA_HUMAN)
CCDS: CCDS32679.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000023.2
exon count: 10CDS single in 3' UTR: no RNA size: 1441
ORF size: 1164CDS single in intron: no Alignment % ID: 99.93
txCdsPredict score: 2528.00frame shift in genome: no % Coverage: 99.44
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.