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

Gene ID: 120071, updated on 2-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 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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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)

Genotypes

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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