Aliases for LARGE2 Gene
Aliases for LARGE2 Gene
External Ids for LARGE2 Gene
- HGNC: 16522
- Entrez Gene: 120071
- Ensembl: ENSG00000165905
- OMIM: 609709
- UniProtKB: Q8N3Y3
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.
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
- 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
Regulatory Element Products
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:
-
- 11p11.2 by Entrez Gene
- 11p11.2 by HGNC
- 11p11.2 by Ensembl
LARGE2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Post-translational modifications for LARGE2 Gene
Other Protein References for LARGE2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for LARGE2
- Invitrogen Antibodies for LARGE2 (AFLGC-LARGE2)
- antibodies-online: Search results for 6 available GYLTL1B Antibodies ranked by validation data
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-
Quality Products:
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Protein Products
-
OriGene Purified Proteins for LARGE2
- Search Origene for MassSpec and Protein Over-expression Lysates for LARGE2
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- Novus Biologicals proteins for LARGE2
- antibodies-online: Search results for 5 available GYLTL1B Proteins ranked by validation data
- Compare Top GYLTL1B Proteins
-
Quality Products:
- Search GeneTex for Proteins for LARGE2
Assay Products
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
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for LARGE2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8N3Y3UniProtKB/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.
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
| 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 | -- |
Phenotypes for LARGE2 Gene
- MGI mutant phenotypes for LARGE2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for LARGE2:
Animal Models for LARGE2 Gene
- MGI Knock Outs for LARGE2:
-
- Large2 Large2<tm1(KOMP)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for LARGE2
-
CRISPR Products
-
OriGene CRISPR knockouts for LARGE2
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- genomics-online: gRNA clones - Search results for 105 available GYLTL1B gene related products
- Overview of 105 available GYLTL1B gene related products
- Applied Biological Materials CRISPR for LARGE2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for LARGE2
- GenScript: Design CRISPR guide RNA sequences for LARGE2
miRNA for LARGE2 Gene
- miRTarBase miRNAs that target LARGE2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LARGE2
- Browse OriGene Inhibitory RNA Products For LARGE2
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- genomics-online: shRNA clones - Search results for 105 available GYLTL1B gene related products
- Overview of 105 available GYLTL1B gene related products
Clone Products
- Sino Biological Human cDNA Clone for LARGE2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LARGE2
- Applied Biological Materials Clones for LARGE2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for LARGE2
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.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| extracellular | 2 |
| plasma membrane | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for LARGE2 Gene
Pathways & Interactions for LARGE2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of proteins | ||
| 2 | Mannose type O-glycan biosynthesis | ||
| 3 | Metabolism | ||
| 4 | O-linked glycosylation | ||
Pathways by source for LARGE2 Gene
3 Reactome pathways for LARGE2 Gene
2 KEGG pathways for LARGE2 Gene
UniProtKB/Swiss-Prot Q8N3Y3-LARG2_HUMAN
- Pathway: Protein modification; protein glycosylation.
Interacting Proteins for LARGE2 Gene
Selected Interacting proteins:
ENSP00000324570
Q8N3Y3-LARG2_HUMAN
for LARGE2 Gene via
STRING
IID
UniProtKB
GPS-Prot Interaction Network for LARGE2
| 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 | -- |
No data available for SIGNOR curated interactions for LARGE2 Gene
Transcripts for LARGE2 Gene
mRNA/cDNA for LARGE2 Gene
- (14) REFSEQ mRNAs :
- (92) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000529052 2459 bps (uc001nbw.2)
- ENST00000531526 2528 bps (uc001nbv.1)
- ENST00000401752 2516 bps (uc001nbx.1)
- ENST00000528236 2294 bps (uc058auk.1)
- ENST00000525609 566 bps (uc058aul.1)
CRISPR Products
-
OriGene CRISPR knockouts for LARGE2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LARGE2
- genomics-online: gRNA clones - Search results for 105 available GYLTL1B gene related products
- Overview of 105 available GYLTL1B gene related products
- Applied Biological Materials CRISPR for LARGE2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for LARGE2
- GenScript: Design CRISPR guide RNA sequences for LARGE2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LARGE2
- Browse OriGene Inhibitory RNA Products For LARGE2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LARGE2
- genomics-online: shRNA clones - Search results for 105 available GYLTL1B gene related products
- Overview of 105 available GYLTL1B gene related products
Clone Products
- Sino Biological Human cDNA Clone for LARGE2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LARGE2
- Applied Biological Materials Clones for LARGE2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for LARGE2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Ovary (Reproductive System)
- Pre-Granulosa Cells Primordial Follicle
- Granulosa Cells Primary Follicle
- Gut Tube (Gastrointestinal Tract)
- Kidney (Urinary System)
NURSA nuclear receptor signaling pathways regulating expression of LARGE2 Gene:
LARGE2mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for LARGE2
-
OriGene qPCR primer pairs and template standards for LARGE2
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | GYLTL1B 33 |
|
||
| cow (Bos Taurus) |
Mammalia | GYLTL1B 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | GYLTL1B 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Gyltl1b 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Gyltl1b 34 33 |
|
OneToOne | |
| Large2 16 |
|
||||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | GYLTL1B 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | GYLTL1B 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | GYLTL1B 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | gyltl1b 34 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | lge-1 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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
Variants 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LARGE2 Gene
Disorders for LARGE2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| interstitial myocarditis |
|
|
| muscular dystrophy-dystroglycanopathy , type b, 6 |
|
|
Search LARGE2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for LARGE2
No data available for UniProtKB/Swiss-Prot and Genatlas for LARGE2 Gene
Publications for LARGE2 Gene
- Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies. (PMID: 15958417) Grewal PK … Hewitt JE (Glycobiology 2005) 2 3 4 22 58
- 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
- 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
- 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
- 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
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- Invitrogen Antibodies for LARGE2 (AFLGC-LARGE2)
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- antibodies-online: Search results for 6 available GYLTL1B Antibodies ranked by validation data
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- genomics-online: cdna clones - Search results for 105 available GYLTL1B gene related products
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Sources for LARGE2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
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