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Aliases for LARGE2 Gene

Aliases for LARGE2 Gene

  • LARGE Xylosyl- And Glucuronyltransferase 2 2 3 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 O-linked glycosylation and Metabolism of proteins. 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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for LARGE2 Gene

Promoters and enhancers for LARGE2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J045921 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 650.7 +1.4 1366 2.3 RB1 ZFP64 KLF17 SIN3A DMAP1 BMI1 THRB GLIS2 EGR1 SCRT2 PEX16 LARGE2 ENSG00000254653
GH11J046117 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 7.5 +199.7 199669 6 HDGF SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF213 PHF21A AMBRA1 ZNF408 RPS10P19 LARGE2 CKAP5 ENSG00000254653 ENSG00000255314
GH11J045928 Enhancer 1.6 UCNEbase Ensembl ENCODE dbSUPER 10.1 +10.2 10217 5.6 HDGF PKNOX1 FOXA2 SMAD1 NFIB RB1 STAT5A YBX1 IRF4 RAD21 LARGE2 SLC35C1 ENSG00000254653 PHF21A
GH11J045993 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.1 +73.8 73757 2.8 HDGF PKNOX1 ATF1 YY1 NCOA2 TCF12 ZNF766 CBX5 GATA2 ATF7 LARGE2 PHF21A ENSG00000254653
GH11J045879 Enhancer 1.1 ENCODE dbSUPER 12.9 -39.8 -39840 3.1 ATF1 PKNOX1 TCF12 FOS ATF7 NCOA1 REST TSHZ1 ATF4 GMEB1 C11orf94 ENSG00000255498 LARGE2 PEX16 MAPK8IP1 DKFZp779M0652 CRY2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LARGE2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for LARGE2 Gene

Genomic Locations for LARGE2 Gene
chr11:45,920,974-45,929,096
(GRCh38/hg38)
Size:
8,123 bases
Orientation:
Plus strand
chr11:45,943,172-45,950,647
(GRCh37/hg19)
Size:
7,476 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

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

Phenotypes From GWAS Catalog 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:0005515 protein binding IPI 19587235
GO:0015020 glucuronosyltransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with LARGE2: view
genes like me logo Genes that share phenotypes with LARGE2: view

Animal Models for LARGE2 Gene

MGI Knock Outs for LARGE2:
  • Large2 Large2<tm1(KOMP)Wtsi>

Animal Model Products

miRNA for LARGE2 Gene

miRTarBase miRNAs that target LARGE2

Clone 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LARGE2 Gene

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

Drugs & Compounds for LARGE2 Gene

No Compound Related Data Available

Transcripts for LARGE2 Gene

Clone 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

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 33
  • 99.05 (n)
cow
(Bos Taurus)
Mammalia GYLTL1B 34 33
  • 87.95 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GYLTL1B 34 33
  • 86.59 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gyltl1b 33
  • 84.32 (n)
mouse
(Mus musculus)
Mammalia Gyltl1b 34 33
  • 83.31 (n)
OneToOne
Large2 16
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 83 (a)
OneToMany
-- 34
  • 64 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia GYLTL1B 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves GYLTL1B 34
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GYLTL1B 34
  • 61 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii gyltl1b 34
  • 62 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea lge-1 34
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for LARGE2: view image

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 Variation AA Info Type
rs1000105779 -- 45,923,367(+) T/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000128547 -- 45,924,993(+) T/C intron_variant
rs1000172038 -- 45,929,179(+) G/A downstream_transcript_variant
rs1000203049 -- 45,928,975(+) G/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs1000479344 -- 45,923,747(+) G/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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)

Additional Variant Information 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

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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. Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies. (PMID: 15958417) Grewal PK … Hewitt JE (Glycobiology 2005) 2 3 4 22 58
  2. Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. (PMID: 15661757) Brockington M … Muntoni F (Human molecular genetics 2005) 2 3 4 22 58
  3. Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissues. (PMID: 25138275) Inamori K … Campbell KP (The Journal of biological chemistry 2014) 3 4 58
  4. Tumor suppressor function of laminin-binding alpha-dystroglycan requires a distinct beta3-N-acetylglucosaminyltransferase. (PMID: 19587235) Bao X … Fukuda M (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 58
  5. LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE. (PMID: 15752776) Fujimura K … Narimatsu H (Biochemical and biophysical research communications 2005) 3 4 58

Products for LARGE2 Gene

Sources for LARGE2 Gene

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