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    LARGE2 LARGE xylosyl- and glucuronyltransferase 2 [ Homo sapiens (human) ]

    Gene ID: 120071, updated on 27-Nov-2024

    Summary

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    Official Symbol
    LARGE2provided by HGNC
    Official Full Name
    LARGE xylosyl- and glucuronyltransferase 2provided by HGNC
    Primary source
    HGNC:HGNC:16522
    See related
    Ensembl:ENSG00000165905 MIM:609709; AllianceGenome:HGNC:16522
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PP5656; GYLTL1B
    Summary
    Predicted to enable dystroglycan binding activity; glucuronosyltransferase activity; and xylosyltransferase activity. Involved in protein O-linked mannosylation. Predicted to be located in intracellular membrane-bounded organelle. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in placenta (RPKM 26.3), skin (RPKM 8.2) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LARGE2 in Genome Data Viewer
    Location:
    11p11.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (45921621..45929096)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (46077548..46085010)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (45943172..45950647)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:45927627-45928126 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:45929145-45930090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:45938484-45939236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3292 Neighboring gene Frey regulator of sperm-oocyte fusion 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4673 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4674 Neighboring gene peroxisomal biogenesis factor 16 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:45956286-45957284 Neighboring gene PHD finger protein 21A Neighboring gene ReSE screen-validated silencer GRCh37_chr11:45975728-45975893 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:45986871-45987068 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:46003193-46004090 Neighboring gene Sharpr-MPRA regulatory region 8215 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:46015337-46015518 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:46015959-46016504 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:46022272-46022894 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:46033641-46034224 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:46141064-46141221 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3293 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3294 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3295 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3296 Neighboring gene uncharacterized LOC105376661

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Wnt-driven LARGE2 mediates laminin-adhesive O-glycosylation in human colonic epithelial cells and colorectal cancer. Dietinger V, et al. Cell Commun Signal, 2020 Jun 25. PMID 32586342, Free PMC Article
    2. Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. Brockington M, et al. Hum Mol Genet, 2005 Mar 1. PMID 15661757
    3. Downregulation of dystroglycan glycosyltransferases LARGE2 and ISPD associate with increased mortality in clear cell renal cell carcinoma. Miller MR, et al. Mol Cancer, 2015 Jul 30. PMID 26220087, Free PMC Article
    4. LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE. Fujimura K, et al. Biochem Biophys Res Commun, 2005 Apr 15. PMID 15752776
    5. The glycosyltransferase LARGE2 is repressed by Snail and ZEB1 in prostate cancer. Huang Q, et al. Cancer Biol Ther, 2015. PMID 25455932, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Wnt-driven LARGE2 mediates laminin-adhesive O-glycosylation in human colonic epithelial cells and colorectal cancer.
      Title: Wnt-driven LARGE2 mediates laminin-adhesive O-glycosylation in human colonic epithelial cells and colorectal cancer.
    2. Reduced levels of GYLTL1B and ISPD mRNA associated with increased patient mortality and are the likely cause of alphaDG hypoglycosylation in ccRCC.
      Title: Downregulation of dystroglycan glycosyltransferases LARGE2 and ISPD associate with increased mortality in clear cell renal cell carcinoma.
    3. LARGE2 is negatively regulated by Snail and/or ZEB1, revealing a mechanistic basis for alphaDG hypoglycosylation during prostate cancer progression and metastasis.
      Title: The glycosyltransferase LARGE2 is repressed by Snail and ZEB1 in prostate cancer.
    4. Loss of LARGE2 disrupts functional glycosylation of alpha-dystroglycan in prostate cancer
      Title: Loss of LARGE2 disrupts functional glycosylation of α-dystroglycan in prostate cancer.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association of genetic variants with hemorrhagic stroke in Japanese individuals.
    6. LARGE2 was found to support the maturation of alpha-dystroglycan more effectively than LARGE.
      Title: LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ35207

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables UDP-xylosyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables glucuronosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glucuronosyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables glucuronosyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables manganese ion binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables xylosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables xylosyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in muscle cell cellular homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein O-linked glycosylation TAS
    Traceable Author Statement
    more info
    		  
    involved_in protein O-linked mannosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein O-linked mannosylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    xylosyl- and glucuronyltransferase LARGE2
    Names
    glycosyltransferase-like 1B
    glycosyltransferase-like protein LARGE2
    like-glycosyltransferase 2
    ortholog of mouse glycosyltransferase-like 1B

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001300721.2 → NP_001287650.1  xylosyl- and glucuronyltransferase LARGE2 isoform a

      See identical proteins and their annotated locations for NP_001287650.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AC068385, BC037291, DB204404
      Consensus CDS
      CCDS31473.1
      UniProtKB/Swiss-Prot
      A6NN75, Q8N3Y3, Q8N8Y6, Q8NAK3, Q8WY62
      UniProtKB/TrEMBL
      B3KP69
      Related
      ENSP00000385235.1, ENST00000401752.6
      Conserved Domains (2) summary
      cd06431
      Location:97 → 376
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      pfam13896
      Location:431 → 664
      Glyco_transf_49; Glycosyl-transferase for dystroglycan

    2. NM_001300722.2 → NP_001287651.1  xylosyl- and glucuronyltransferase LARGE2 isoform b

      See identical proteins and their annotated locations for NP_001287651.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an in-frame segment compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC068385, AK055829, BC037291
      Consensus CDS
      CCDS76399.1
      UniProtKB/TrEMBL
      B3KP69, E9PIZ2
      Related
      ENSP00000431932.1, ENST00000529052.5
      Conserved Domains (3) summary
      cd06431
      Location:66 → 345
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      COG1442
      Location:86 → 314
      RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
      pfam13896
      Location:400 → 633
      Glyco_transf_49; Glycosyl-transferase for dystroglycan

    3. NM_152312.5 → NP_689525.3  xylosyl- and glucuronyltransferase LARGE2 isoform a

      See identical proteins and their annotated locations for NP_689525.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AC068385, AK055829, AK096021, BC037291
      Consensus CDS
      CCDS31473.1
      UniProtKB/Swiss-Prot
      A6NN75, Q8N3Y3, Q8N8Y6, Q8NAK3, Q8WY62
      UniProtKB/TrEMBL
      B3KP69
      Related
      ENSP00000432869.1, ENST00000531526.5
      Conserved Domains (2) summary
      cd06431
      Location:97 → 376
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      pfam13896
      Location:431 → 664
      Glyco_transf_49; Glycosyl-transferase for dystroglycan

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      45921621..45929096
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011519892.3 → XP_011518194.1  xylosyl- and glucuronyltransferase LARGE2 isoform X10

      UniProtKB/TrEMBL
      B3KP69
      Conserved Domains (3) summary
      cd06431
      Location:97 → 376
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      COG1442
      Location:98 → 345
      RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
      pfam13896
      Location:431 → 647
      Glyco_transf_49; Glycosyl-transferase for dystroglycan

    2. XM_011519886.2 → XP_011518188.1  xylosyl- and glucuronyltransferase LARGE2 isoform X2

      See identical proteins and their annotated locations for XP_011518188.1

      UniProtKB/TrEMBL
      B3KP69
      Conserved Domains (3) summary
      cd06431
      Location:97 → 376
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      COG1442
      Location:98 → 345
      RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
      pfam13896
      Location:431 → 679
      Glyco_transf_49; Glycosyl-transferase for dystroglycan

    3. XM_011519891.2 → XP_011518193.1  xylosyl- and glucuronyltransferase LARGE2 isoform X8

      UniProtKB/TrEMBL
      B3KP69
      Conserved Domains (3) summary
      cd06431
      Location:97 → 376
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      COG1442
      Location:98 → 345
      RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
      pfam13896
      Location:431 → 584
      Glyco_transf_49; Glycosyl-transferase for dystroglycan

    4. XM_047426344.1 → XP_047282300.1  xylosyl- and glucuronyltransferase LARGE2 isoform X1

    5. XM_047426347.1 → XP_047282303.1  xylosyl- and glucuronyltransferase LARGE2 isoform X11

    6. XM_011519888.2 → XP_011518190.1  xylosyl- and glucuronyltransferase LARGE2 isoform X4

      Conserved Domains (2) summary
      cd06431
      Location:97 → 376
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      COG1442
      Location:98 → 345
      RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]

    7. XM_011519890.2 → XP_011518192.1  xylosyl- and glucuronyltransferase LARGE2 isoform X6

      Conserved Domains (2) summary
      cd06431
      Location:97 → 376
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      COG1442
      Location:98 → 345
      RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]

    8. XM_011519893.2 → XP_011518195.1  xylosyl- and glucuronyltransferase LARGE2 isoform X15

      Conserved Domains (2) summary
      cd06431
      Location:97 → 376
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      COG1442
      Location:98 → 345
      RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]

    9. XM_047426348.1 → XP_047282304.1  xylosyl- and glucuronyltransferase LARGE2 isoform X12

    10. XM_011519889.2 → XP_011518191.1  xylosyl- and glucuronyltransferase LARGE2 isoform X5

      UniProtKB/TrEMBL
      B3KP69
      Conserved Domains (3) summary
      cd06431
      Location:66 → 345
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      COG1442
      Location:86 → 314
      RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
      pfam13896
      Location:400 → 648
      Glyco_transf_49; Glycosyl-transferase for dystroglycan

    11. XM_006718140.2 → XP_006718203.1  xylosyl- and glucuronyltransferase LARGE2 isoform X7

      See identical proteins and their annotated locations for XP_006718203.1

      UniProtKB/TrEMBL
      B3KP69, E9PIZ2
      Conserved Domains (3) summary
      cd06431
      Location:66 → 345
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      COG1442
      Location:86 → 314
      RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
      pfam13896
      Location:400 → 633
      Glyco_transf_49; Glycosyl-transferase for dystroglycan

    12. XM_047426345.1 → XP_047282301.1  xylosyl- and glucuronyltransferase LARGE2 isoform X3

    13. XM_047426349.1 → XP_047282305.1  xylosyl- and glucuronyltransferase LARGE2 isoform X13

    14. XM_047426346.1 → XP_047282302.1  xylosyl- and glucuronyltransferase LARGE2 isoform X9

    15. XM_006718141.5 → XP_006718204.1  xylosyl- and glucuronyltransferase LARGE2 isoform X14

      Conserved Domains (3) summary
      cd06431
      Location:97 → 376
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      COG1442
      Location:98 → 345
      RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
      pfam13896
      Location:431 → 552
      Glyco_transf_49; Glycosyl-transferase for dystroglycan

    16. XM_005252787.2 → XP_005252844.1  xylosyl- and glucuronyltransferase LARGE2 isoform X16

      Conserved Domains (1) summary
      cl11394
      Location:54 → 136
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      46077548..46085010
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367631.1 → XP_054223606.1  xylosyl- and glucuronyltransferase LARGE2 isoform X10

    2. XM_054367623.1 → XP_054223598.1  xylosyl- and glucuronyltransferase LARGE2 isoform X2

    3. XM_054367629.1 → XP_054223604.1  xylosyl- and glucuronyltransferase LARGE2 isoform X8

    4. XM_054367622.1 → XP_054223597.1  xylosyl- and glucuronyltransferase LARGE2 isoform X1

    5. XM_054367632.1 → XP_054223607.1  xylosyl- and glucuronyltransferase LARGE2 isoform X11

    6. XM_054367625.1 → XP_054223600.1  xylosyl- and glucuronyltransferase LARGE2 isoform X4

    7. XM_054367627.1 → XP_054223602.1  xylosyl- and glucuronyltransferase LARGE2 isoform X6

    8. XM_054367636.1 → XP_054223611.1  xylosyl- and glucuronyltransferase LARGE2 isoform X15

    9. XM_054367633.1 → XP_054223608.1  xylosyl- and glucuronyltransferase LARGE2 isoform X12

    10. XM_054367626.1 → XP_054223601.1  xylosyl- and glucuronyltransferase LARGE2 isoform X5

    11. XM_054367628.1 → XP_054223603.1  xylosyl- and glucuronyltransferase LARGE2 isoform X7

      UniProtKB/TrEMBL
      E9PIZ2

    12. XM_054367624.1 → XP_054223599.1  xylosyl- and glucuronyltransferase LARGE2 isoform X3

    13. XM_054367634.1 → XP_054223609.1  xylosyl- and glucuronyltransferase LARGE2 isoform X13

    14. XM_054367630.1 → XP_054223605.1  xylosyl- and glucuronyltransferase LARGE2 isoform X9

    15. XM_054367635.1 → XP_054223610.1  xylosyl- and glucuronyltransferase LARGE2 isoform X14

    16. XM_054367637.1 → XP_054223612.1  xylosyl- and glucuronyltransferase LARGE2 isoform X16

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N3Y3.2 GenPept UniProtKB/Swiss-Prot:Q8N3Y3

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