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Aliases for LARGE2 Gene

Aliases for LARGE2 Gene

  • LARGE Xylosyl- And Glucuronyltransferase 2 2 3 5
  • Glycosyltransferase-Like 1B 2 3 4
  • GYLTL1B 3 4
  • Ortholog Of Mouse Glycosyltransferase-Like 1B 3
  • Glycosyltransferase-Like Protein LARGE2 3
  • Like-Glycosyltransferase 2 3
  • EC 2.4.-.- 4
  • PP5656 3

External Ids for LARGE2 Gene

Previous HGNC Symbols for LARGE2 Gene

  • GYLTL1B

Summaries for LARGE2 Gene

GeneCards Summary for LARGE2 Gene

LARGE2 (LARGE Xylosyl- And Glucuronyltransferase 2) is a Protein Coding gene. Diseases associated with LARGE2 include Interstitial Myocarditis and Muscular Dystrophy-Dystroglycanopathy , Type B, 6. Among its related pathways are Mannose type O-glycan biosynthesis and O-linked glycosylation. An important paralog of this gene is LARGE1.

UniProtKB/Swiss-Prot for LARGE2 Gene

  • Bifunctional glycosyltransferase with both xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1). Phosphorylated O-mannosyl trisaccharid is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Elongates the glucuronyl-beta-1,4-xylose-beta disaccharide primer structure by adding repeating units [-3-Xylose-alpha-1,3-GlcA-beta-1-] to produce a heteropolysaccharide. Has a higher activity toward alpha-dystroglycan than LARGE.

Gene Wiki entry for LARGE2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LARGE2 Gene

Genomics for LARGE2 Gene

Regulatory Elements for LARGE2 Gene

Enhancers for LARGE2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G045928 2.4 Ensembl ENCODE dbSUPER 10.1 +10.2 10218 5.6 HDGF PKNOX1 TBL1XR1 NFIB SIN3A YBX1 RAD21 ZBTB40 EGR1 ELK1 LARGE2 SLC35C1 ENSG00000254653
GH11G045854 1.5 Ensembl ENCODE dbSUPER 11.5 -62.9 -62873 6.2 ATF1 PKNOX1 CREB3L1 SIN3A YY1 TCF12 ELK1 FOS ZNF263 JUNB MAPK8IP1 C11orf94 ENSG00000255498 PEX16 LARGE2 DKFZp779M0652 SLC35C1 CRY2
GH11G045993 1.5 Ensembl ENCODE dbSUPER 11.1 +73.8 73757 2.8 HDGF PKNOX1 FOXA2 ATF1 CREB3L1 YY1 TCF12 ZNF766 CBX5 GATA2 LARGE2 ENSG00000254653
GH11G045879 1.2 ENCODE dbSUPER 13 -39.8 -39841 3.1 PKNOX1 ATF1 SIN3A TCF12 GLIS2 ELK1 FOS JUNB TSHZ1 REST C11orf94 ENSG00000255498 LARGE2 PEX16 MAPK8IP1 DKFZp779M0652 CRY2
GH11G045982 1.5 Ensembl ENCODE dbSUPER 10.2 +62.3 62304 1.5 HDGF PKNOX1 ATF1 ARNT E2F7 YBX1 TCF12 GLIS2 FOS JUNB LARGE2 C11orf49 ENSG00000254653
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LARGE2 on UCSC Golden Path with GeneCards custom track

Promoters for LARGE2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000039462 1826 801 CREB3L1 AGO1 ZFP64 INSM2 SIN3A KLF17 DMAP1 THRB GLIS2 EGR1

Genomic Location for LARGE2 Gene

Chromosome:
11
Start:
45,920,974 bp from pter
End:
45,929,096 bp from pter
Size:
8,123 bases
Orientation:
Plus strand

Genomic View for LARGE2 Gene

Genes around LARGE2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LARGE2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LARGE2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LARGE2 Gene

Proteins for LARGE2 Gene

  • Protein details for LARGE2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N3Y3-LARG2_HUMAN
    Recommended name:
    LARGE xylosyl- and glucuronyltransferase 2
    Protein Accession:
    Q8N3Y3
    Secondary Accessions:
    • A6NN75
    • Q8N8Y6
    • Q8NAK3
    • Q8WY62

    Protein attributes for LARGE2 Gene

    Size:
    721 amino acids
    Molecular mass:
    81787 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with B3GNT1/B4GAT1.
    SequenceCaution:
    • Sequence=AAG23791.1; Type=Frameshift; Positions=496, 510, 674; Evidence={ECO:0000305}; Sequence=BAC03909.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

neXtProt entry for LARGE2 Gene

Post-translational modifications for LARGE2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for LARGE2 Gene

Domains & Families for LARGE2 Gene

Gene Families for LARGE2 Gene

Protein Domains for LARGE2 Gene

Suggested Antigen Peptide Sequences for LARGE2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N3Y3

UniProtKB/Swiss-Prot:

LARG2_HUMAN :
  • In the C-terminal section; belongs to the glycosyltransferase 49 family.
Family:
  • In the C-terminal section; belongs to the glycosyltransferase 49 family.
  • In the N-terminal section; belongs to the glycosyltransferase 8 family.
genes like me logo Genes that share domains with LARGE2: view

Function for LARGE2 Gene

Molecular function for LARGE2 Gene

UniProtKB/Swiss-Prot Function:
Bifunctional glycosyltransferase with both xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1). Phosphorylated O-mannosyl trisaccharid is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Elongates the glucuronyl-beta-1,4-xylose-beta disaccharide primer structure by adding repeating units [-3-Xylose-alpha-1,3-GlcA-beta-1-] to produce a heteropolysaccharide. Has a higher activity toward alpha-dystroglycan than LARGE.

Enzyme Numbers (IUBMB) for LARGE2 Gene

Gene Ontology (GO) - Molecular Function for LARGE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0015020 glucuronosyltransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0030145 manganese ion binding TAS 25138275
genes like me logo Genes that share ontologies with LARGE2: view

Phenotypes for LARGE2 Gene

genes like me logo Genes that share phenotypes with LARGE2: view

Animal Models for LARGE2 Gene

MGI Knock Outs for LARGE2:

Animal Model Products

miRNA for LARGE2 Gene

miRTarBase miRNAs that target LARGE2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LARGE2 Gene

Localization for LARGE2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LARGE2 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LARGE2 gene
Compartment Confidence
golgi apparatus 5
extracellular 2
plasma membrane 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for LARGE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with LARGE2: view

Pathways & Interactions for LARGE2 Gene

genes like me logo Genes that share pathways with LARGE2: view

Pathways by source for LARGE2 Gene

UniProtKB/Swiss-Prot Q8N3Y3-LARG2_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for LARGE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0006493 protein O-linked glycosylation TAS --
GO:0008152 metabolic process IEA --
GO:0035269 protein O-linked mannosylation IDA 25138275
GO:0046716 muscle cell cellular homeostasis ISS --
genes like me logo Genes that share ontologies with LARGE2: view

No data available for SIGNOR curated interactions for LARGE2 Gene

Transcripts for LARGE2 Gene

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LARGE2 Gene

No ASD Table

Relevant External Links for LARGE2 Gene

GeneLoc Exon Structure for
LARGE2
ECgene alternative splicing isoforms for
LARGE2

Expression for LARGE2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of LARGE2 Gene:

LARGE2

mRNA Expression by UniProt/SwissProt for LARGE2 Gene:

Q8N3Y3-LARG2_HUMAN
Tissue specificity: Widely expressed. Expressed at high level in placenta, pancreas and kidney compared to LARGE. Not expressed in brain.

Evidence on tissue expression from TISSUES for LARGE2 Gene

  • Kidney(4.3)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with LARGE2: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for LARGE2 Gene

Orthologs for LARGE2 Gene

This gene was present in the common ancestor of animals.

Orthologs for LARGE2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GYLTL1B 34
  • 99.05 (n)
cow
(Bos Taurus)
Mammalia GYLTL1B 34 35
  • 87.95 (n)
dog
(Canis familiaris)
Mammalia GYLTL1B 34 35
  • 86.59 (n)
rat
(Rattus norvegicus)
Mammalia Gyltl1b 34
  • 84.32 (n)
mouse
(Mus musculus)
Mammalia Gyltl1b 34 35
  • 83.31 (n)
Large2 16
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 83 (a)
OneToMany
-- 35
  • 64 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia GYLTL1B 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves GYLTL1B 35
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GYLTL1B 35
  • 61 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii gyltl1b 35
  • 62 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea lge-1 35
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 26 (a)
ManyToMany
Species where no ortholog for LARGE2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for LARGE2 Gene

ENSEMBL:
Gene Tree for LARGE2 (if available)
TreeFam:
Gene Tree for LARGE2 (if available)

Paralogs for LARGE2 Gene

Paralogs for LARGE2 Gene

genes like me logo Genes that share paralogs with LARGE2: view

Variants for LARGE2 Gene

Sequence variations from dbSNP and Humsavar for LARGE2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000105779 -- 45,923,367(+) CCCCC(G/T)CCGCA intron-variant, upstream-variant-2KB
rs1000128547 -- 45,924,993(+) GAACA(C/T)TGCTG intron-variant
rs1000172038 -- 45,929,179(+) AGCTG(A/G)GGTCA downstream-variant-500B
rs1000203049 -- 45,928,975(+) GTGGG(A/G)TCTTC downstream-variant-500B, utr-variant-3-prime
rs1000479344 -- 45,923,747(+) TTTGG(C/G)AGGCC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for LARGE2 Gene

Variant ID Type Subtype PubMed ID
nsv516442 CNV loss 19592680

Variation tolerance for LARGE2 Gene

Residual Variation Intolerance Score: 84% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.86; 48.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LARGE2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LARGE2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LARGE2 Gene

Disorders for LARGE2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for LARGE2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
interstitial myocarditis
muscular dystrophy-dystroglycanopathy , type b, 6
  • muscular dystrophy-dystroglycanopathy type b6
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for LARGE2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LARGE2
genes like me logo Genes that share disorders with LARGE2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LARGE2 Gene

Publications for LARGE2 Gene

  1. Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. (PMID: 15661757) Brockington M. … Muntoni F. (Hum. Mol. Genet. 2005) 2 3 4 22 64
  2. Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies. (PMID: 15958417) Grewal P.K. … Hewitt J.E. (Glycobiology 2005) 2 3 4 22 64
  3. Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of alpha-dystroglycan in cells and tissues. (PMID: 25138275) Inamori K. … Campbell K.P. (J. Biol. Chem. 2014) 3 4 64
  4. LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE. (PMID: 15752776) Fujimura K. … Narimatsu H. (Biochem. Biophys. Res. Commun. 2005) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for LARGE2 Gene

Sources for LARGE2 Gene

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