Seroatlas · Human Serome Atlas

SGCB

Beta-sarcoglycan

Also known as: A3b, LGMD2E, SGC, SGCB_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q16585
Gene: SGCB
Ensembl: ENSG00000163069
Chromosome: 4
Canonical length: 318 aa
Protein class: Disease related genes, Human disease related genes, Predicted membrane proteins
Subcellular location: Cytosol

OverviewNCBI Gene

This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008]

Canonical amino-acid sequenceUniProt

318 residues, UniProt reviewed canonical sequence.

>Q16585|SGCB
     1  MAAAAAAAAE QQSSNGPVKK SMREKAVERR SVNKEHNSNF KAGYIPIDED RLHKTGLRGR
    61  KGNLAICVII LLFILAVINL IITLVIWAVI RIGPNGCDSM EFHESGLLRF KQVSDMGVIH
   121  PLYKSTVGGR RNENLVITGN NQPIVFQQGT TKLSVENNKT SITSDIGMQF FDPRTQNILF
   181  STDYETHEFH LPSGVKSLNV QKASTERITS NATSDLNIKV DGRAIVRGNE GVFIMGKTIE
   241  FHMGGNMELK AENSIILNGS VMVSTTRLPS SSSGDQLGSG DWVRYKLCMC ADGTLFKVQV
   301  TSQNMGCQIS DNPCGNTH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SGCB 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: 99 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 99 nTPM
tongue: 76 nTPM
heart muscle: 54 nTPM
parathyroid gland: 44 nTPM
blood vessel: 42 nTPM
spinal cord: 38 nTPM

Single-cell type

late spermatids: 300 nCPM
thymic myoid cells: 159 nCPM
schwann cells: 122 nCPM
smooth muscle cells: 91 nCPM
myonuclei: 90 nCPM
peritubular myoid cells: 86 nCPM

Immune cell

T-reg: 4.2 nTPM
memory B-cell: 2.5 nTPM
memory CD4 T-cell: 2.5 nTPM
memory CD8 T-cell: 2.3 nTPM
naive B-cell: 2.3 nTPM
naive CD8 T-cell: 2.2 nTPM

Brain region

white matter: 49 nTPM
medulla oblongata: 44 nTPM
basal ganglia: 43 nTPM
spinal cord: 41 nTPM
midbrain: 40 nTPM
thalamus: 40 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SGCB.

Disease | AllUniProt

Conditions SGCB is implicated in, by any mechanism.

Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) MIM:604286

Disease | GeneticClinVar

131 pathogenic / likely-pathogenic of 649 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal recessive limb-girdle muscular dystrophy type 2E
Autosomal recessive limb-girdle muscular dystrophy
Qualitative or quantitative defects of beta-sarcoglycan
Inborn genetic diseases
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): 1.47
gnomAD pLI: 0
gnomAD missense Z: 0
DepMap mean gene effect: 0.03
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

Antibody and autoantibody relevanceSeroatlas analysis

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

SGCB is annotated at the cell surface, where native SGCB 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 SGCB as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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