SGCA sarcoglycan alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: SGCAprovided by HGNC
Official Full Name: sarcoglycan alphaprovided by HGNC
Primary source: HGNC:HGNC:10805
See related: Ensembl:ENSG00000108823 MIM:600119; AllianceGenome:HGNC:10805
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: ADL; DAG2; 50DAG; DMDA2; LGMD2D; LGMDR3; SCARMD1; adhalin
Summary: This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
Expression: Biased expression in heart (RPKM 27.1), esophagus (RPKM 7.1) and 11 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.33

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (50166005..50175928)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (51033073..51042985)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (48243366..48253289)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco-Sjogren syndrome patients.
Title: Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco-Sjögren syndrome patients.
Base editing repairs an SGCA mutation in human primary muscle stem cells.
Title: Base editing repairs an SGCA mutation in human primary muscle stem cells.
This study showed three Sarcoglycanopathies caused by mutations in SGCA genes.
Title: Milder forms of α-sarcoglicanopathies diagnosed in adulthood by NGS analysis.
Pathogenic mutations were found in SGCA from Egyptian families with limb-girdle muscular dystrophy.
Title: Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.
IN TMD patients, a locus near the sarcoglycan alpha ( SGCA), rs4794106, was suggestive in the discovery analysis ( P = 2.6 x 10(6)) and replicated (i.e., 1-tailed P = 0.016) in the Brazilian cohort.
Title: GWAS Identifies New Loci for Painful Temporomandibular Disorder: Hispanic Community Health Study/Study of Latinos.
The results suggest that the carrier rate of c.101G>T in SGCA may be high in Taiwan, especially in the aboriginal population regardless of the tribes.
Title: Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan.
B4GAT1 is involved in the initiation of the LARGE-dependent repeating disaccharide that is necessary for extracellular matrix protein binding to O-mannosylated alpha-dystroglycan.
Title: B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan.
Results show that HRD1 and RFP2 contributes are required for the disposal of V247M alpha-sarcoglycan mutant.
Title: Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D.
2 members of a Spanish family with muscular dystrophy had a new missense mutation c409G>A, p.Glu137Lys in exon 5 of the alpha-sarcoglycan gene, as well as a paternal c739G>A, p.Val24Met mutation inexon 6.
Title: [A novel missense mutation in the alpha-sarcoglycan gene in a Spanish family with muscular dystrophy].
DNA analysis demonstrated homozygosity for a point mutation (574C>T) in the alpha-sarcoglycan gene.
Title: The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive limb-girdle muscular dystrophy type 2D MedGen: C2936332 OMIM: 608099 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S1319 (e-PCR)
- UniSTS:150063

G10719 (e-PCR)
- UniSTS:18646

STS-L34355 (e-PCR)
- UniSTS:78054

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in muscle contraction	TAS Traceable Author Statement more info	PubMed
involved_in muscle organ development	TAS Traceable Author Statement more info	PubMed
involved_in response to denervation involved in regulation of muscle adaptation	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle tissue regeneration	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell-cell junction	IEA Inferred from Electronic Annotation more info
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	TAS Traceable Author Statement more info	PubMed
located_in membrane raft	IEA Inferred from Electronic Annotation more info
part_of sarcoglycan complex	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcolemma	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: alpha-sarcoglycan

Names: 50 kDa dystrophin-associated glycoprotein; 50kD DAG; alpha-SG; dystroglycan-2; limb girdle muscular dystrophy 2D; sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)

NCBI Reference Sequences (RefSeq)

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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

NG_008889.1 RefSeqGene

Range

5001..14928

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_203

mRNA and Protein(s)

NM_000023.4 → NP_000014.1 alpha-sarcoglycan isoform 1 precursor

See identical proteins and their annotated locations for NP_000014.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC015909

Consensus CDS

CCDS32679.1

UniProtKB/Swiss-Prot

A6NEB8, A8K3K7, Q13710, Q13712, Q16586

UniProtKB/TrEMBL

A0A0S2Z4Q1, A0A804HKR7

Related

ENSP00000262018.3, ENST00000262018.8

Conserved Domains (1) summary

pfam05510
Location:27 → 347

Sarcoglycan_2; Sarcoglycan alpha/epsilon
NM_001135697.3 → NP_001129169.1 alpha-sarcoglycan isoform 2 precursor

See identical proteins and their annotated locations for NP_001129169.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two alternate in-frame exons in the central coding region, compared to variant 1. The resulting isoform (2) lacks a segment of the sarcoglycan domain including the transmembrane domain, compared to isoform 1.

Source sequence(s)

AC015909

Consensus CDS

CCDS45729.1

UniProtKB/TrEMBL

A0A0S2Z4P8

Related

ENSP00000345522.6, ENST00000344627.10

Conserved Domains (1) summary

pfam05510
Location:27 → 195

Sarcoglycan_2; Sarcoglycan alpha/epsilon