Sgca MGI Mouse Gene Detail - MGI:894698 - sarcoglycan, alpha (dystrophin-associated glycoprotein)

Symbol

Sgca
Name

sarcoglycan, alpha (dystrophin-associated glycoprotein)
Synonyms

50DAG, adhalin, Asg

Feature Type

protein coding gene
IDs

MGI:894698
NCBI Gene: 20391
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr11:94853617-94867153 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 59.01 cM, cytoband C
Mapping Data

2 experiments

SNPs within 2kb

479 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_894698	protein coding gene	Chr11:94853603-94867153 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0018971	protein coding gene	Chr11:97145888-97159472 (-)
A/J	MGP_AJ_G0018939	protein coding gene	Chr11:93221880-93235157 (-)
AKR/J	MGP_AKRJ_G0018909	protein coding gene	Chr11:96103944-96117221 (-)
BALB/cJ	MGP_BALBcJ_G0018912	protein coding gene	Chr11:93693587-93707065 (-)
C3H/HeJ	MGP_C3HHeJ_G0018726	protein coding gene	Chr11:96233064-96246985 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0019364	protein coding gene	Chr11:100211305-100224837 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016995	protein coding gene	Chr11:90707042-90721656 (-)
CAST/EiJ	MGP_CASTEiJ_G0018280	protein coding gene	Chr11:97017229-97031732 (-)
CBA/J	MGP_CBAJ_G0018697	protein coding gene	Chr11:104293522-104309758 (-)
DBA/2J	MGP_DBA2J_G0018805	protein coding gene	Chr11:92797531-92811090 (-)
FVB/NJ	MGP_FVBNJ_G0018794	protein coding gene	Chr11:92259097-92272589 (-)
LP/J	MGP_LPJ_G0018875	protein coding gene	Chr11:97707772-97721286 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018821	protein coding gene	Chr11:104356502-104369981 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019404	protein coding gene	Chr11:96361191-96376189 (-)
PWK/PhJ	MGP_PWKPhJ_G0018051	protein coding gene	Chr11:93694574-93717505 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0017840	protein coding gene	Chr11:96045274-96060749 (-)
WSB/EiJ	MGP_WSBEiJ_G0018329	protein coding gene	Chr11:96287217-96304352 (-)

Human Ortholog

SGCA, sarcoglycan alpha

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SGCA, sarcoglycan alpha
Synonyms

50DAG, adhalin, ADL, DAG2, DMDA2, LGMD2D, LGMDR3, SCARMD1
Links

HGNC:10805

NCBI Gene ID: 6442

neXtProt AC: NX_Q16586

UniProt: Q16586
Chr Location

17q21.33; chr17:50164214-50175928 (+) GRCh38

MGI Vertebrate Homology

Sgca stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SGCA
Gene Tree

Sgca

Diseases

1 with Sgca mouse models; 2 with human SGCA associations

Human Disease

Mouse Models

autosomal recessive limb-girdle muscular dystrophy type 2D

IDs

View 3 models

muscular dystrophy

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

3 with disease annotations

References

3 with disease annotations

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Phenotype Summary

24 phenotypes from 4 alleles in 6 genetic backgrounds
8 phenotypes from multigenic genotypes
1 images
51 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

15
Endonuclease-mediated

3
Gene trapped

2
Targeted

10
Genomic Mutations

2 involving Sgca
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

26 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutation of this gene results in muscle abnormalities, with decreased skeletal muscle force and stiffness and muscular dystrophy.

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All GO Annotations

16
GO References

13

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

905
Tissues

81
cDNA Data

10
Literature Summary

6

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase sgca

ZFIN sgca

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All Sequences

45
RefSeq

4
UniProt

3
CCDS

CCDS25266.1

Ensembl

ENSMUSG00000001508 (Evidence)
NCBI Gene

20391

			Length	Strain/Species	Flank
genomic	ENSMUSG00000001508	Ensembl Gene Model \| MGI Sequence Detail	13537	C57BL/6J	± kb
transcript	ENSMUST00000103162	Ensembl \| MGI Sequence Detail	1724	Not Applicable
polypeptide	ENSMUSP00000099451	Ensembl \| MGI Sequence Detail	387	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000014781 alpha-sarcoglycan

(term hierarchy)
InterPro Domains

IPR015919 Cadherin-like superfamily

IPR006644 Dystroglycan-type cadherin-like

IPR008908 Sarcoglycan alpha/epsilon

IPR048346 Sarcoglycan alpha/epsilon, N-terminal domain

IPR048347 Sarcoglycan alpha/epsilon second domain
GlyGen

P82350 3 sites, 1 O-linked glycan (1 site)

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All nucleic 16

Genomic 2

cDNA 10

Primer pair 4

Microarray probesets 5

Summaries

All 94

Developmental Gene Expression 6

Diseases 3

Gene Ontology 13

Phenotypes 51
Earliest

J:3426 Matsumura K, et al., Association of dystrophin-related protein with dystrophin-associated proteins in mdx mouse muscle. Nature. 1992 Dec 10;360(6404):588-91
Latest

J:344316 Angelini G, et al., MEK-inhibitors decrease Nfix in muscular dystrophy but induce unexpected calcifications, partially rescued with Cyanidin diet. iScience. 2024 Jan 19;27(1):108696

TSS for Sgca:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr110237	Chr11:94867228-94867249 (-)	-86 bp
Tssr110236	Chr11:94867194-94867225 (-)	-57 bp
Tssr110235	Chr11:94867174-94867185 (-)	-27 bp
Tssr110234	Chr11:94867158-94867165 (-)	-9 bp
Tssr110233	Chr11:94867003-94867005 (-)	149 bp
Tssr110232	Chr11:94864273-94864297 (-)	2,868 bp
Tssr110231	Chr11:94862874-94862881 (-)	4,275 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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