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Aliases for SGCD Gene

Aliases for SGCD Gene

  • Sarcoglycan Delta 2 3 5
  • Sarcoglycan, Delta (35kDa Dystrophin-Associated Glycoprotein) 2 3
  • 35 KDa Dystrophin-Associated Glycoprotein 3 4
  • Delta-SG 3 4
  • 35DAG 3 4
  • Dystrophin Associated Glycoprotein, Delta Sarcoglycan 3
  • Placental Delta Sarcoglycan 3
  • Delta-Sarcoglycan 3
  • SG-Delta 3
  • CMD1L 3
  • SGCDP 3
  • DAGD 3
  • SGD 3

External Ids for SGCD Gene

Previous GeneCards Identifiers for SGCD Gene

  • GC05P155803
  • GC05P156305
  • GC05P155480
  • GC05P155734
  • GC05P155686
  • GC05P150847
  • GC05P155297

Summaries for SGCD Gene

Entrez Gene Summary for SGCD Gene

  • The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for SGCD Gene

SGCD (Sarcoglycan Delta) is a Protein Coding gene. Diseases associated with SGCD include Muscular Dystrophy, Limb-Girdle, Type 2F and Cardiomyopathy, Dilated, 1L. Among its related pathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Allograft rejection. An important paralog of this gene is SGCZ.

UniProtKB/Swiss-Prot for SGCD 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 SGCD Gene

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

Genomics for SGCD Gene

Regulatory Elements for SGCD Gene

Enhancers for SGCD 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
GH05F156202 0.6 Ensembl 21.8 +331.7 331734 0.8 JUND ZFP64 NR3C1 NR2F6 SGCD GC05M156142 GC05M156184
GH05F156201 0.6 Ensembl 21.6 +331.2 331157 0.2 ZFP64 NR3C1 NR2F6 SGCD GC05M156142 GC05M156184
GH05F156394 1.2 Ensembl ENCODE 11.8 +525.5 525457 2.7 CTCF SMARCA4 RAD21 MAFK SGCD GC05M156184 GC05M156142
GH05F156399 0.6 ENCODE 11.2 +531.0 531006 4.3 PKNOX1 RBBP5 BMI1 EBF1 RFX5 RELA CBX5 ZNF207 RFX1 MTA2 SGCD GC05M156184 GC05M156142
GH05F156380 0.2 ENCODE 10.6 +510.7 510748 1.1 SGCD GC05M156184 GC05M156142
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SGCD on UCSC Golden Path with GeneCards custom track

Genomic Location for SGCD Gene

Chromosome:
5
Start:
155,870,344 bp from pter
End:
156,767,788 bp from pter
Size:
897,445 bases
Orientation:
Plus strand

Genomic View for SGCD Gene

Genes around SGCD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for SGCD Gene

Proteins for SGCD Gene

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

    Protein Symbol:
    Q92629-SGCD_HUMAN
    Recommended name:
    Delta-sarcoglycan
    Protein Accession:
    Q92629
    Secondary Accessions:
    • A8K9S9
    • Q53XA5
    • Q99644

    Protein attributes for SGCD Gene

    Size:
    289 amino acids
    Molecular mass:
    32071 Da
    Quaternary structure:
    • Interacts with FLNC and DAG1. 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 SGCD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SGCD Gene

Post-translational modifications for SGCD Gene

Antibody Products

  • R&D Systems Antibodies for SGCD (delta-Sarcoglycan)

No data available for DME Specific Peptides for SGCD Gene

Domains & Families for SGCD Gene

Protein Domains for SGCD Gene

Suggested Antigen Peptide Sequences for SGCD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92629

UniProtKB/Swiss-Prot:

SGCD_HUMAN :
  • Belongs to the sarcoglycan beta/delta/gamma/zeta family.
Family:
  • Belongs to the sarcoglycan beta/delta/gamma/zeta family.
genes like me logo Genes that share domains with SGCD: view

No data available for Gene Families for SGCD Gene

Function for SGCD Gene

Molecular function for SGCD Gene

GENATLAS Biochemistry:
sarcoglycan delta,dystrophin associated protein A4D (35kDa),expressed in skeletal,cardiac muscle and vascular smooth 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 SGCD: view

Human Phenotype Ontology for SGCD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SGCD Gene

MGI Knock Outs for SGCD:

Animal Model Products

Flow Cytometry Products

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

Localization for SGCD Gene

Subcellular locations from UniProtKB/Swiss-Prot for SGCD Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SGCD Gene COMPARTMENTS Subcellular localization image for SGCD gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
mitochondrion 2
cytosol 1
endoplasmic reticulum 1
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SGCD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane TAS 8842738
GO:0016010 dystrophin-associated glycoprotein complex IDA 17993586
GO:0016011 dystroglycan complex IEA --
genes like me logo Genes that share ontologies with SGCD: view

Pathways & Interactions for SGCD Gene

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

Gene Ontology (GO) - Biological Process for SGCD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007517 muscle organ development TAS 8841194
GO:0048738 cardiac muscle tissue development IBA --
GO:0055001 muscle cell development IBA --
GO:0060047 heart contraction IBA --
GO:0061024 membrane organization IBA --
genes like me logo Genes that share ontologies with SGCD: view

No data available for SIGNOR curated interactions for SGCD Gene

Transcripts for SGCD Gene

Unigene Clusters for SGCD Gene

Sarcoglycan, delta (35kDa dystrophin-associated glycoprotein):
Representative Sequences:

Flow Cytometry Products

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9
SP1: - -
SP2:
SP3:

Relevant External Links for SGCD Gene

GeneLoc Exon Structure for
SGCD
ECgene alternative splicing isoforms for
SGCD

Expression for SGCD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SGCD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Heart - Left Ventricle (x6.9), Muscle - Skeletal (x5.5), Heart - Atrial Appendage (x4.5), and Artery - Tibial (x4.2).

Protein differential expression in normal tissues from HIPED for SGCD Gene

This gene is overexpressed in Uterus (15.0), Gallbladder (8.9), and Heart (7.3).

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



Protein tissue co-expression partners for SGCD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SGCD Gene:

SGCD

SOURCE GeneReport for Unigene cluster for SGCD Gene:

Hs.387207

mRNA Expression by UniProt/SwissProt for SGCD Gene:

Q92629-SGCD_HUMAN
Tissue specificity: Most strongly expressed in skeletal and cardiac muscle. Also detected in smooth muscle. Weak expression in brain and lung.
genes like me logo Genes that share expression patterns with SGCD: view

Primer Products

Orthologs for SGCD Gene

This gene was present in the common ancestor of animals.

Orthologs for SGCD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SGCD 34 35
  • 99.31 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 94 (a)
OneToMany
-- 35
  • 89 (a)
OneToMany
cow
(Bos Taurus)
Mammalia SGCD 34 35
  • 93.43 (n)
dog
(Canis familiaris)
Mammalia SGCD 34 35
  • 93.43 (n)
oppossum
(Monodelphis domestica)
Mammalia SGCD 35
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sgcd 34
  • 90.54 (n)
mouse
(Mus musculus)
Mammalia Sgcd 34 16 35
  • 90.31 (n)
chicken
(Gallus gallus)
Aves SGCD 34 35
  • 81.83 (n)
lizard
(Anolis carolinensis)
Reptilia SGCD 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sgcd 34
  • 72.92 (n)
zebrafish
(Danio rerio)
Actinopterygii sgcd 34 35
  • 70.13 (n)
Dr.27561 34
fruit fly
(Drosophila melanogaster)
Insecta Scgdelta 34 35
  • 48.38 (n)
Scgdgr 36
  • 39 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000073 34
  • 47.4 (n)
worm
(Caenorhabditis elegans)
Secernentea sgn-1 36 34 35
  • 46.31 (n)
Species where no ortholog for SGCD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)

Evolution for SGCD Gene

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

Paralogs for SGCD Gene

Paralogs for SGCD Gene

(2) SIMAP similar genes for SGCD Gene using alignment to 2 proteins:

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

Variants for SGCD Gene

Sequence variations from dbSNP and Humsavar for SGCD Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs121909297 Limb-girdle muscular dystrophy 2F (LGMD2F) [MIM:601287], Pathogenic 156,759,301(+) TCTTC(A/G)AGATC reference, missense
rs121909298 Cardiomyopathy, dilated 1L (CMD1L) [MIM:606685], Pathogenic 156,595,000(+) TCTTC(G/T)CTGCA reference, missense
rs121909295 Pathogenic 156,595,042(+) GATTA(C/G/T)GAGTT reference, missense, stop-gained
rs121909296 Pathogenic 156,344,574(+) TGGCT(A/G/T)GCGGA reference, missense, stop-gained
rs267607045 Pathogenic 156,594,940(+) CAAAA(C/G)CCGTA reference, missense

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

Variant ID Type Subtype PubMed ID
dgv1660e212 CNV loss 25503493
esv2657305 CNV deletion 23128226
esv2668032 CNV deletion 23128226
esv2675002 CNV deletion 23128226
esv27446 CNV loss 19812545
esv33006 CNV gain 17666407
esv3308949 CNV mobile element insertion 20981092
esv3357534 CNV insertion 20981092
esv33782 CNV gain+loss 17666407
esv3607289 CNV gain 21293372
esv3607290 CNV loss 21293372
esv3607292 CNV loss 21293372
esv3607293 CNV loss 21293372
esv3607294 CNV loss 21293372
esv3607295 CNV loss 21293372
esv3607297 CNV loss 21293372
esv3607298 CNV loss 21293372
esv3607300 CNV loss 21293372
nsv1124000 CNV deletion 24896259
nsv1137043 CNV deletion 24896259
nsv830522 CNV gain 17160897
nsv830523 CNV gain 17160897
nsv830524 CNV gain 17160897

Variation tolerance for SGCD Gene

Residual Variation Intolerance Score: 71% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.30; 53.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SGCD Gene

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

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

Disorders for SGCD Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
muscular dystrophy, limb-girdle, type 2f
  • autosomal recessive limb-girdle muscular dystrophy type 2f
cardiomyopathy, dilated, 1l
  • dilated cardiomyopathy 1l
autosomal recessive limb-girdle muscular dystrophy type 2f
  • delta-sarcoglycanopathy
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated cardiomyopathy
sgcd-related dilated cardiomyopathy
  • cardiomyopathy, dilated, 1l
- elite association - COSMIC cancer census association via MalaCards
Search SGCD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SGCD_HUMAN
  • Cardiomyopathy, dilated 1L (CMD1L) [MIM:606685]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:10974018}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Limb-girdle muscular dystrophy 2F (LGMD2F) [MIM:601287]: An autosomal recessive degenerative myopathy initially affecting the proximal limb girdle musculature. Muscle from patients shows a complete loss of delta-sarcoglycan as well as of the others components of the sarcoglycan complex. {ECO:0000269 PubMed:9832045}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SGCD

Genetic Association Database (GAD)
SGCD
Human Genome Epidemiology (HuGE) Navigator
SGCD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SGCD
genes like me logo Genes that share disorders with SGCD: view

No data available for Genatlas for SGCD Gene

Publications for SGCD Gene

  1. Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. (PMID: 10974018) Tsubata S. … Towbin J.A. (J. Clin. Invest. 2000) 2 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. Delta-sarcoglycan gene polymorphism frequency in Amerindian and Mestizo populations of Mexico. (PMID: 20384457) OrdoA+ez-Razo R.M. … Salamanca-GA^mez F. (Genet Test Mol Biomarkers 2010) 3 46 64
  5. A novel custom resequencing array for dilated cardiomyopathy. (PMID: 20474083) Zimmerman R.S. … Funke B.H. (Genet. Med. 2010) 3 46 64

Products for SGCD Gene

Sources for SGCD Gene

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