Identity
HGNC
LOCATION
4q12
LOCUSID
ALIAS
A3b,LGMD2E,LGMDR4,SGC
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6443
MIM: 600900
HGNC: 10806
Ensembl: ENSG00000163069
Variants:
dbSNP: 6443
ClinVar: 6443
TCGA: ENSG00000163069
COSMIC: SGCB
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000163069 | ENST00000381431 | Q16585 |
| ENSG00000163069 | ENST00000381431 | Q5U0N0 |
| ENSG00000163069 | ENST00000506357 | H0Y8J3 |
| ENSG00000163069 | ENST00000514133 | H0YA15 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37317968 | 2023 | Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E. | 1 |
| 37699968 | 2023 | Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy. | 0 |
| 37317968 | 2023 | Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E. | 1 |
| 37699968 | 2023 | Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy. | 0 |
| 35416532 | 2022 | Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C. | 3 |
| 35416532 | 2022 | Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C. | 3 |
| 28687063 | 2017 | LGMD2E is the most common type of sarcoglycanopathies in the Iranian population. | 8 |
| 28687063 | 2017 | LGMD2E is the most common type of sarcoglycanopathies in the Iranian population. | 8 |
| 25862795 | 2015 | Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E. | 24 |
| 25862795 | 2015 | Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E. | 24 |
| 18996010 | 2008 | Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? | 22 |
| 18996010 | 2008 | Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? | 22 |
| 16934466 | 2006 | Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E. | 12 |
| 17036316 | 2006 | The beta-delta-core of sarcoglycan is essential for deposition at the plasma membrane. | 11 |
| 16934466 | 2006 | Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E. | 12 |
Citation
Dessen P
SGCB (sarcoglycan beta)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/73178/sgcb-(sarcoglycan-beta)
