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Large
Gene Detail
Symbol

Name
ID
Large
like-glycosyltransferase
MGI:1342270
Synonyms
BPFD#36, enr, fg, froggy, mKIAA0609
Feature Type
protein coding gene
Genetic Map
Chromosome 8
35.08 cM, cytoband C1
Detailed Genetic Map ± 1 cM


Mapping data(17)
Sequence Map
Chr8:72814599-73353540 bp, - strand
From VEGA annotation of GRCm38

  538942 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:7810  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Large

Human
homologs
Human Homolog LARGE, like-glycosyltransferase
NCBI Gene ID 9215
neXtProt AC  NX_O95461
Human Synonyms  MDC1D, MDDGA6, MDDGB6
Human Chr (Location)  22q12.3; chr22:33272523-33920476 (-)  GRCh38
Disease Associations  (3) Diseases Associated with Human LARGE
Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Chemically induced (ENU)(1) Gene trapped(5) Spontaneous(2) Transgenic(1)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes exhibit a progressive myopathy, abnormal posture, thoracic kyphosis, calcium deposits in muscle, loss of Schwann cells and myelin, eye and CNS defects, deafness, reduced growth, and death around 4 months.
 
Human Diseases Modeled Using Mouse Large (3)    Alleles Annotated to Human Diseases(3)    Phenotype Images(2)
Interactions
Large interacts with 172 markers (Mir7-2, Mir7b, Mir10a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (9 annotations)
Process glycoprotein biosynthetic process, muscle cell cellular homeostasis
Component cell, Golgi apparatus, ...
Function protein binding, transferase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (31)    Tissues (10)    Images (19)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 31
cDNA source data(71)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(78) Genomic(3) cDNA(74) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000030306 (Evidence)
Ensembl Gene ModelENSMUSG00000004383 (Evidence)
Entrez Gene16795 (Evidence)
UniGene324371
DFCITC1578304, TC1612245, TC1770883
DoTSDT.481431, DT.91330323, DT.94138642, DT.94295107
NIA Mouse Gene IndexU043860
EC2.4.-.-
Consensus CDS ProjectCCDS22420.1
International Mouse Knockout Project StatusLarge
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000030306 VEGA Gene Model | MGI Sequence Detail 538942 C57BL/6J ±  kb
transcript OTTMUST00000075036 VEGA | MGI Sequence Detail 4647 Not Applicable 
polypeptide OTTMUSP00000039267 VEGA | MGI Sequence Detail 756 Not Applicable 

For the selected sequences
All sequences(41) RefSeq(4) UniProt(5)
Polymorphisms
SNPs within 2kb(2483 from dbSNP Build 137)    SNPs within 2kb including multiple locations(2485)
Protein-related
information
ResourceIDDescription
InterPro IPR002495 Glycosyl transferase, family 8
Protein Ontology PR:000009667 glycosyltransferase-like protein LARGE1
References
(Earliest) J:64437 Lane PW, Froggy (fg) renamed myd - myodystrophy. Mouse News Lett. 1969;40:30
(Latest) J:211088 Pribiag H, et al., Dystroglycan mediates homeostatic synaptic plasticity at GABAergic synapses. Proc Natl Acad Sci U S A. 2014 May 6;111(18):6810-5
All references(88)
Disease annotation references (3)
Other
accession IDs
MGD-MRK-12127, MGD-MRK-12128, MGD-MRK-12737, MGD-MRK-9759, MGI:1196289, MGI:96926, MGI:97251

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
10/21/2014
MGI 5.20
The Jackson Laboratory