Format

Send to:

Choose Destination

SGCD sarcoglycan delta [ Homo sapiens (human) ]

Gene ID: 6444, updated on 29-Sep-2018

Summary

Official Symbol
SGCDprovided by HGNC
Official Full Name
sarcoglycan deltaprovided by HGNC
Primary source
HGNC:HGNC:10807
See related
Ensembl:ENSG00000170624 MIM:601411; Vega:OTTHUMG00000163445
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SGD; DAGD; 35DAG; CMD1L; SGCDP; LGMDR6; SG-delta
Summary
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]
Expression
Broad expression in heart (RPKM 13.1), thyroid (RPKM 9.5) and 17 other tissues See more
Orthologs

Genomic context

See SGCD in Genome Data Viewer
Location:
5q33.2-q33.3
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (155728636..156767788)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (155462147..156194799)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene STN1, CST complex subunit pseudogene Neighboring gene peptidylprolyl isomerase G pseudogene 1 Neighboring gene RNA, 5S ribosomal pseudogene 199 Neighboring gene uncharacterized LOC105377673 Neighboring gene RNA, U6 small nuclear 556, pseudogene Neighboring gene PPP1R2 family member B

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Gene network analysis in a pediatric cohort identifies novel lung function genes.
NHGRI GWA Catalog
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
NHGRI GWA Catalog
Genome-wide association study of anthropometric traits in Korcula Island, Croatia.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from BioSystems

  • Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystem (from WikiPathways)
    Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
  • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
    Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Dilated cardiomyopathy, conserved biosystem (from KEGG)
    Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Viral myocarditis, organism-specific biosystem (from KEGG)
    Viral myocarditis, organism-specific biosystemMyocarditis is a cardiac disease associated with inflammation and injury of the myocardium. It results from various etiologies, both noninfectious and infectious, but coxsackievirus B3 (CVB3) is stil...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC22567

Gene Ontology Provided by GOA

Process Evidence Code Pubs
heart contraction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
muscle organ development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
dystrophin-associated glycoprotein complex IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
PubMed 
sarcoglycan complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcolemma IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
delta-sarcoglycan
Names
35 kDa dystrophin-associated glycoprotein
delta-SG
dystrophin associated glycoprotein, delta sarcoglycan
placental delta sarcoglycan
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008693.2 RefSeqGene

    Range
    461414..902446
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_205

mRNA and Protein(s)

  1. NM_000337.5NP_000328.2  delta-sarcoglycan isoform 1

    See identical proteins and their annotated locations for NP_000328.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as SGCD1), encodes the longest isoform (1).
    Source sequence(s)
    AC025434, BC020740, BQ434817, BQ446019, BX537948
    Consensus CDS
    CCDS47325.1
    UniProtKB/Swiss-Prot
    Q92629
    Related
    ENSP00000338343.4, OTTHUMP00000223947, ENST00000337851.8, OTTHUMT00000373470
    Conserved Domains (1) summary
    pfam04790
    Location:24278
    Sarcoglycan_1; Sarcoglycan complex subunit protein
  2. NM_001128209.1NP_001121681.1  delta-sarcoglycan isoform 3

    See identical proteins and their annotated locations for NP_001121681.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) is lacking an internal exon from the 5' end compared to transcript variant 1, resulting in translation initiation from the second in-frame AUG, and an isoform (3) missing 1 aa at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC025434, BC020740, BQ434817, BQ446019, BX537948, DA561069
    Consensus CDS
    CCDS47327.1
    UniProtKB/Swiss-Prot
    Q92629
    Related
    ENSP00000403003.2, OTTHUMP00000223946, ENST00000435422.7, OTTHUMT00000373469
    Conserved Domains (1) summary
    pfam04790
    Location:23277
    Sarcoglycan_1; Sarcoglycan complex subunit protein
  3. NM_172244.2NP_758447.1  delta-sarcoglycan isoform 2

    See identical proteins and their annotated locations for NP_758447.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as SGCD2), contains an alternate 3' terminal exon compared to transcript variant 1. This results in a shorter isoform (2) with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AI139498, BQ434817, U58331
    Consensus CDS
    CCDS47326.1
    UniProtKB/Swiss-Prot
    Q92629
    Related
    ENSP00000429378.1, OTTHUMP00000223961, ENST00000517913.5, OTTHUMT00000373502
    Conserved Domains (1) summary
    pfam04790
    Location:29235
    Sarcoglycan_1; Sarcoglycan complex subunit protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    155728636..156767788
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009724.1XP_016865213.1  delta-sarcoglycan isoform X1

    UniProtKB/Swiss-Prot
    Q92629
    Conserved Domains (1) summary
    pfam04790
    Location:24278
    Sarcoglycan_1; Sarcoglycan complex subunit protein
  2. XM_017009723.2XP_016865212.1  delta-sarcoglycan isoform X1

    UniProtKB/Swiss-Prot
    Q92629
    Conserved Domains (1) summary
    pfam04790
    Location:24278
    Sarcoglycan_1; Sarcoglycan complex subunit protein
  3. XM_011534621.2XP_011532923.1  delta-sarcoglycan isoform X2

    See identical proteins and their annotated locations for XP_011532923.1

    UniProtKB/Swiss-Prot
    Q92629
    Conserved Domains (1) summary
    pfam04790
    Location:23277
    Sarcoglycan_1; Sarcoglycan complex subunit protein
  4. XM_005265967.2XP_005266024.1  delta-sarcoglycan isoform X3

    Conserved Domains (1) summary
    pfam04790
    Location:29166
    Sarcoglycan_1; Sarcoglycan complex subunit protein
  5. XM_005265966.5XP_005266023.1  delta-sarcoglycan isoform X1

    See identical proteins and their annotated locations for XP_005266023.1

    UniProtKB/Swiss-Prot
    Q92629
    Conserved Domains (1) summary
    pfam04790
    Location:24278
    Sarcoglycan_1; Sarcoglycan complex subunit protein
Support Center