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

Summary

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, Apr 2025]
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

Location:: 11p11.2

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2025_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (45921621..45929096)
RS_2025_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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association of genetic variants with hemorrhagic stroke in Japanese individuals.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables UDP-xylosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables UDP-xylosyltransferase activity	TAS Traceable Author Statement more info
enables catalytic activity	IEA Inferred from Electronic Annotation 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 glycosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables manganese ion binding	IEA Inferred from Electronic Annotation more info
enables manganese ion binding	TAS Traceable Author Statement more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transferase activity	IEA Inferred from Electronic Annotation more info
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 glycosylation via mannose	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein O-linked glycosylation via mannose	IDA Inferred from Direct Assay more info	PubMed
involved_in protein O-linked glycosylation via mannose	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation 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)

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
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
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_2025_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

45921621..45929096

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

Related

ENSP00000531652.1, ENST00000861593.1

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
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
XM_047426344.1 → XP_047282300.1 xylosyl- and glucuronyltransferase LARGE2 isoform X1
XM_047426347.1 → XP_047282303.1 xylosyl- and glucuronyltransferase LARGE2 isoform X11
XM_011519888.2 → XP_011518190.1 xylosyl- and glucuronyltransferase LARGE2 isoform X4

Related

ENSP00000596438.1, ENST00000926379.1

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

Related

ENSP00000596428.1, ENST00000926369.1

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

UniProtKB/TrEMBL

B3KP69
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
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
XM_047426345.1 → XP_047282301.1 xylosyl- and glucuronyltransferase LARGE2 isoform X3
XM_047426349.1 → XP_047282305.1 xylosyl- and glucuronyltransferase LARGE2 isoform X13
XM_047426346.1 → XP_047282302.1 xylosyl- and glucuronyltransferase LARGE2 isoform X9
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
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

NC_060935.1 Alternate T2T-CHM13v2.0

Range

46077548..46085010

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B3KP69
XM_054367623.1 → XP_054223598.1 xylosyl- and glucuronyltransferase LARGE2 isoform X2

UniProtKB/TrEMBL

B3KP69
XM_054367629.1 → XP_054223604.1 xylosyl- and glucuronyltransferase LARGE2 isoform X8

UniProtKB/TrEMBL

B3KP69
XM_054367622.1 → XP_054223597.1 xylosyl- and glucuronyltransferase LARGE2 isoform X1
XM_054367632.1 → XP_054223607.1 xylosyl- and glucuronyltransferase LARGE2 isoform X11
XM_054367625.1 → XP_054223600.1 xylosyl- and glucuronyltransferase LARGE2 isoform X4
XM_054367627.1 → XP_054223602.1 xylosyl- and glucuronyltransferase LARGE2 isoform X6
XM_054367636.1 → XP_054223611.1 xylosyl- and glucuronyltransferase LARGE2 isoform X15
XM_054367633.1 → XP_054223608.1 xylosyl- and glucuronyltransferase LARGE2 isoform X12

UniProtKB/TrEMBL

B3KP69
XM_054367626.1 → XP_054223601.1 xylosyl- and glucuronyltransferase LARGE2 isoform X5

UniProtKB/TrEMBL

B3KP69
XM_054367628.1 → XP_054223603.1 xylosyl- and glucuronyltransferase LARGE2 isoform X7

UniProtKB/TrEMBL

B3KP69, E9PIZ2
XM_054367624.1 → XP_054223599.1 xylosyl- and glucuronyltransferase LARGE2 isoform X3
XM_054367634.1 → XP_054223609.1 xylosyl- and glucuronyltransferase LARGE2 isoform X13
XM_054367630.1 → XP_054223605.1 xylosyl- and glucuronyltransferase LARGE2 isoform X9
XM_054367635.1 → XP_054223610.1 xylosyl- and glucuronyltransferase LARGE2 isoform X14
XM_054367637.1 → XP_054223612.1 xylosyl- and glucuronyltransferase LARGE2 isoform X16