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 re... See more...

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-Sarcoglycan 3 4
  • Delta-SG 3 4
  • 35DAG 3 4
  • CMD1L 2 3
  • DAGD 2 3
  • Dystrophin Associated Glycoprotein, Delta Sarcoglycan 3
  • Placental Delta Sarcoglycan 3
  • SG-Delta 3
  • LGMDR6 3
  • LGMD2F 2
  • SGCDP 3
  • SGCD 5
  • SGD 3

External Ids for SGCD Gene

Previous GeneCards Identifiers for SGCD Gene

  • GC05P155803
  • GC05P156305
  • GC05P155480
  • GC05P155734
  • GC05P150847
  • GC05P155297
  • GC05P155870

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, Autosomal Recessive 6 and Cardiomyopathy, Dilated, 1L. Among its related pathways are Dilated cardiomyopathy (DCM) and Arrhythmogenic right ventricular cardiomyopathy (ARVC). An important paralog of this gene is SGCZ.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SGCD Gene

Genomics for SGCD Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SGCD Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J156325 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 609.6 +599.2 599193 4.2 SIN3A GATA3 RAD21 EZH2 TAF1 GATA2 SGCD KR153194-163 piR-56341-190 PPP1R2B
GH05J155727 Promoter/Enhancer 0.8 ENCODE CraniofacialAtlas 600.7 +0.2 198 1.9 EZH2 SCRT2 RAD21 CTCF PKNOX1 HDAC2 TAF1 SGCD lnc-GEMIN5-3
GH05J155729 Enhancer 0.4 ENCODE 600.7 +1.2 1200 0.1 EZH2 SCRT2 RAD21 SGCD lnc-GEMIN5-3
GH05J156181 Enhancer 0.6 Ensembl 28.7 +453.4 453365 0.4 REST SP1 ATF3 NR3C1 SIX5 FOSL2 ZBTB33 SIN3A BCL3 MAFK RF00017-5039 SGCD piR-34093-031 PPP1R2B
GH05J156473 Enhancer 1.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.3 +747.1 747065 5.4 TEAD4 POLR2A SP1 CTCF CEBPB MAFF FOS FOSL2 SIN3A BHLHE40 SGCD ENSG00000253370 piR-52879-017 PPP1R2B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SGCD on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SGCD

Top Transcription factor binding sites by QIAGEN in the SGCD gene promoter:
  • AREB6
  • Egr-2
  • GATA-1
  • GATA-2
  • GATA-3
  • HFH-1
  • POU2F1
  • POU2F1a
  • POU3F2
  • RSRFC4

Genomic Locations for SGCD Gene

Genomic Locations for SGCD Gene
chr5:155,728,636-156,767,788
(GRCh38/hg38)
Size:
1,039,153 bases
Orientation:
Plus strand
chr5:155,297,354-156,194,799
(GRCh37/hg19)
Size:
897,446 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

No data available for DME Specific Peptides for SGCD Gene

Domains & Families for SGCD Gene

Gene Families for SGCD Gene

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

Protein Domains for SGCD Gene

InterPro:
Blocks:
  • Sarcoglycan complex subunit protein
ProtoNet:

Suggested Antigen Peptide Sequences for SGCD Gene

GenScript: Design optimal peptide antigens:
  • 35 kDa dystrophin-associated glycoprotein (SGCD_HUMAN)

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

Function for SGCD Gene

Molecular function for SGCD Gene

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.
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

Phenotypes From GWAS Catalog for SGCD Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SGCD

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
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 SGCD gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
endoplasmic reticulum 3
extracellular 2
mitochondrion 2
peroxisome 1
nucleus 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 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

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

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:0003015 heart process IEA --
GO:0007517 muscle organ development TAS 8841194
GO:0019722 calcium-mediated signaling IEA --
GO:0034629 cellular protein-containing complex localization IEA --
GO:0048738 cardiac muscle tissue development IBA 21873635
genes like me logo Genes that share ontologies with SGCD: view

No data available for SIGNOR curated interactions for SGCD Gene

Drugs & Compounds for SGCD Gene

No Compound Related Data Available

Transcripts for SGCD Gene

mRNA/cDNA for SGCD Gene

3 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SGCD

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

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 and MOPED for SGCD Gene



Protein tissue co-expression partners for SGCD Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for SGCD Gene

  • Muscle(4.7)
  • Liver(4.3)
  • Eye(4.3)
  • Lung(4.3)
  • Heart(3.1)
  • Skin(2.6)
  • Nervous system(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
  • scapula
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • spinal cord
genes like me logo Genes that share expression patterns with SGCD: view

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 30 31
  • 99.31 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 94 (a)
OneToMany
-- 31
  • 89 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia SGCD 30 31
  • 93.43 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SGCD 30 31
  • 93.43 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SGCD 31
  • 93 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sgcd 30
  • 90.54 (n)
Mouse
(Mus musculus)
Mammalia Sgcd 30 17 31
  • 90.31 (n)
OneToOne
Chicken
(Gallus gallus)
Aves SGCD 30 31
  • 81.83 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SGCD 31
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sgcd 30
  • 72.92 (n)
Zebrafish
(Danio rerio)
Actinopterygii sgcd 30 31
  • 70.13 (n)
OneToOne
Dr.27561 30
Fruit Fly
(Drosophila melanogaster)
Insecta Scgdelta 30 31
  • 48.38 (n)
OneToMany
Scg&dgr; 32
  • 39 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000073 30
  • 47.4 (n)
Worm
(Caenorhabditis elegans)
Secernentea sgn-1 30 31 32
  • 46.31 (n)
OneToMany
Species where no ortholog for SGCD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for SGCD: view image

Paralogs for SGCD Gene

Paralogs for SGCD Gene

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

  • SGCD_HUMAN
  • E5RI34_HUMAN
genes like me logo Genes that share paralogs with SGCD: view

Variants for SGCD Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SGCD Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
648245 Uncertain Significance: Autosomal recessive limb-girdle muscular dystrophy type 2F 156,759,349(+) G/T MISSENSE_VARIANT
652862 Uncertain Significance: Autosomal recessive limb-girdle muscular dystrophy type 2F 156,344,576(+) C/T MISSENSE_VARIANT
654072 Uncertain Significance: Autosomal recessive limb-girdle muscular dystrophy type 2F 156,759,338(+) C/T MISSENSE_VARIANT
656348 Uncertain Significance: Autosomal recessive limb-girdle muscular dystrophy type 2F 156,757,711(+) GA/G FRAMESHIFT_VARIANT,INTRON_VARIANT
657283 Uncertain Significance: Autosomal recessive limb-girdle muscular dystrophy type 2F; not provided 156,759,316(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SGCD Gene

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)

Additional Variant Information for SGCD Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for SGCD Gene

MalaCards: The human disease database

(37) MalaCards diseases for SGCD Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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
  • Muscular dystrophy, limb-girdle, autosomal recessive 6 (LGMDR6) [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.
  • 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.

Additional Disease Information for SGCD

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 JA (The Journal of clinical investigation 2000) 2 3 4
  2. 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 SD … DREAM investigators (Diabetes care 2010) 3 41
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  4. A novel custom resequencing array for dilated cardiomyopathy. (PMID: 20474083) Zimmerman RS … Funke BH (Genetics in medicine : official journal of the American College of Medical Genetics 2010) 3 41
  5. Delta-sarcoglycan gene polymorphism frequency in Amerindian and Mestizo populations of Mexico. (PMID: 20384457) Ordoñez-Razo RM … Salamanca-Gómez F (Genetic testing and molecular biomarkers 2010) 3 41

Products for SGCD Gene

Sources for SGCD Gene