Seroatlas · Human Serome Atlas

SGCD

Delta-sarcoglycan

Also known as: CMD1L, DAGD, LGMD2F, SGCD_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q92629
Gene: SGCD
Ensembl: ENSG00000170624
Chromosome: 5
Canonical length: 289 aa
Protein class: Disease related genes, Human disease related genes, Predicted membrane proteins

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

289 residues, UniProt reviewed canonical sequence.

>Q92629|SGCD
     1  MPQEQYTHHR STMPGSVGPQ VYKVGIYGWR KRCLYFFVLL LMILILVNLA MTIWILKVMN
    61  FTIDGMGNLR ITEKGLKLEG DSEFLQPLYA KEIQSRPGNA LYFKSARNVT VNILNDQTKV
   121  LTQLITGPKA VEAYGKKFEV KTVSGKLLFS ADNNEVVVGA ERLRVLGAEG TVFPKSIETP
   181  NVRADPFKEL RLESPTRSLV MEAPKGVEIN AEAGNMEATC RTELRLESKD GEIKLDAAKI
   241  RLPRLPHGSY TPTGTRQKVF EICVCANGRL FLSQAGAGST CQINTSVCL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SGCD can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.55
Highest tissue expression: 40 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 40 nTPM
heart muscle: 37 nTPM
tongue: 31 nTPM
blood vessel: 18 nTPM
thyroid gland: 17 nTPM
smooth muscle: 13 nTPM

Single-cell type

myonuclei: 2,979 nCPM
cardiomyocytes: 2,865 nCPM
somatotrophs: 1,052 nCPM
oligodendrocyte progenitor cells: 1,010 nCPM
retinal horizontal cells: 952 nCPM
cone photoreceptor cells: 892 nCPM

Immune cell

naive CD8 T-cell: 0.6 nTPM
gdT-cell: 0.3 nTPM
memory CD8 T-cell: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM

Brain region

white matter: 19 nTPM
medulla oblongata: 14 nTPM
spinal cord: 13 nTPM
midbrain: 13 nTPM
cerebral cortex: 12 nTPM
amygdala: 12 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SGCD.

Disease | AllUniProt

Conditions SGCD is implicated in, by any mechanism.

Muscular dystrophy, limb-girdle, autosomal recessive 6 (LGMDR6) MIM:601287
Cardiomyopathy, dilated, 1L (CMD1L) MIM:606685

Disease | GeneticClinVar

51 pathogenic / likely-pathogenic of 825 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal recessive limb-girdle muscular dystrophy type 2F
Dilated cardiomyopathy 1L
Autosomal recessive limb-girdle muscular dystrophy
Neuromuscular disease
Abnormality of the musculature

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.82
gnomAD pLI: 0
gnomAD missense Z: 0.2
DepMap mean gene effect: -0.04
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SGCD in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SGCD as an antibody target. Whether an autoantibody or antibody against SGCD could matter depends on whether native SGCD is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SGCD is annotated at the cell surface, where native SGCD is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label SGCD as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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