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SGCD sarcoglycan delta [ Homo sapiens (human) ]

Gene ID: 6444, updated on 11-Jun-2021

Summary

Official Symbol
SGCDprovided by HGNC
Official Full Name
sarcoglycan deltaprovided by HGNC
Primary source
HGNC:HGNC:10807
See related
Ensembl:ENSG00000170624 MIM:601411
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
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Genomic context

See SGCD in Genome Data Viewer
Location:
5q33.2-q33.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (155728636..156767788)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (155754174..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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Autosomal recessive limb-girdle muscular dystrophy type 2F
MedGen: C1832525 OMIM: 601287 GeneReviews: Not available
not available
Dilated cardiomyopathy 1L
MedGen: C1847667 OMIM: 606685 GeneReviews: Not available
not available
Gene network analysis in a pediatric cohort identifies novel lung function genes.
GeneReviews: Not available
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
GeneReviews: Not available
Genome-wide association study of anthropometric traits in Korcula Island, Croatia.
GeneReviews: Not available
Limb-girdle muscular dystrophy
MedGen: C0686353 GeneReviews: Not available
not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available
Primary dilated cardiomyopathy not available

Pathways from PubChem

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

NEW Try the new Transcript table

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_000337.6NP_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, ENST00000337851.9
    Conserved Domains (1) summary
    pfam04790
    Location:24278
    Sarcoglycan_1; Sarcoglycan complex subunit protein
  2. NM_001128209.2NP_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, ENST00000435422.7
    Conserved Domains (1) summary
    pfam04790
    Location:23277
    Sarcoglycan_1; Sarcoglycan complex subunit protein
  3. NM_172244.3NP_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, ENST00000517913.5
    Conserved Domains (1) summary
    pfam04790
    Location:29235
    Sarcoglycan_1; Sarcoglycan complex subunit protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 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
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