LARGE2 - LARGE xylosyl- and glucuronyltransferase 2 Gene

Also Known as PP5656; GYLTL1B

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 120071

About LARGE2

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:45,921,621-45,929,096 (from NCBI)

This gene has 10 transcripts (splice variants), 220 orthologues and 5 paralogues. Biased expression in placenta (RPKM 26.3), skin (RPKM 8.2) and 10 other tissues.

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 2022]

LARGE2 Products (3)

mRNA Protein Name
NM_001300721.2 NP_001287650.1 xylosyl- and glucuronyltransferase LARGE2 isoform a precursor
NM_001300722.2 NP_001287651.1 xylosyl- and glucuronyltransferase LARGE2 isoform b
NM_152312.5 NP_689525.3 xylosyl- and glucuronyltransferase LARGE2 isoform a precursor

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
19587235 GOA
Biological Process GO Annotation Evidence References Source
involved in protein O-linked mannosylation IDA
IDA: Inferred from direct assay
25138275 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LARGE2 Protein Structure

Glyco_transf_8

Glyco_transf_8: Glycosyl transferase family 8 (110 - 345)

Glyco_transf_49

Glyco_transf_49: Glycosyl-transferase for dystroglycan (431 - 495)

Glyco_transf_49

Glyco_transf_49: Glycosyl-transferase for dystroglycan (498 - 676)

  • 0
  • 200
  • 400
  • 600
  • 721 a.a.
Protein Preferred Names Protein Names

xylosyl- and glucuronyltransferase LARGE2

  • glycosyltransferase-like 1B

Related Diseases

Diseases Alias
Muscular Dystrophy-Dystroglycanopathy , Type B, 6

  • Muscular Dystrophy-Dystroglycanopathy Type B6

  • MDDGB6

  • Mdc1d

  • Muscular Dystrophy, Congenital, Type 1d

  • Congenital Muscular Dystrophy Type 1d

  • Dystrophy, Muscular, Dystroglycanopathy , Type B6

  • Muscular Dystrophy, Congenital, Large-Related

  • Congenital Muscular Dystrophy Large-Related

  • Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B6

  • Muscular Dystrophy Large-Related
Brazilian Hemorrhagic Fever

  • Sabia Hemorrhagic Fever
Muscular Dystrophy-Dystroglycanopathy , Type C, 2

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n

  • Lgmd2n

  • MDDGC2

  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 14

  • Lgmdr14

  • Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomt2-Related

  • Limb-Girdle Muscular Dystrophy Type 2n

  • Muscular Dystrophy, Limb-Girdle, Type 2n

  • Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomt2-Related

  • Muscular Dystrophy-Dystroglycanopathy Type C 2

  • Pomt2-Related Limb-Girdle Muscular Dystrophy R14

  • Lgmd Type 2n

  • Pomt2-Related Lgmd R14

  • Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C2

  • Mdgd2c

  • Dystrophy, Muscular, Limb-Girdle, Type 2n
Septic Myocarditis
Muscular Dystrophy, Congenital, Lmna-Related

  • Congenital Muscular Dystrophy

  • Congenital Muscular Dystrophy Due To Lmna Mutation

  • MDCL

  • L-Cmd

  • Lmna-Related Congenital Muscular Dystrophy

  • Muscular Dystrophy, Congenital

  • Congenital Muscular Dystrophy Lmna-Related

  • Lmna-Related Cmd

  • Cmd

  • Mdc

  • Muscular Dystrophy Congenital Lmna-Related

  • Dystrophy, Muscular, Congenital, Lmna-Related

  • Dystrophy, Muscular, Congenital

  • Hereditary Muscular Dystrophy

  • Congenital Hereditary Muscular Dystrophy

  • Congenital Progressive Muscular Dystrophy

  • Hereditary Progressive Muscular Dystrophy
Walker-Warburg Syndrome

  • Hard Syndrome

  • Walker-Warburg Congenital Muscular Dystrophy

  • Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

  • Cod-Md Syndrome

  • Chemke Syndrome

  • Hydrocephalus, Agyria And Retinal Dysplasia

  • Cerebroocular Dysgenesis

  • Cerebroocular Dysplasia Muscular Dystrophy Syndrome

  • Hard +/- E Syndrome

  • Pagon Syndrome

  • Warburg Syndrome

  • Hydrocephalus, Agyria, And Retinal Dysplasia

  • Mddga

  • Muscular Dystrophy-Dystroglycanopathy , Type A

  • Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

  • Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

  • Wws

  • Dystrophy, Muscular, Dystroglycanopathy, Type A
Muscular Dystrophy-Dystroglycanopathy , Type A, 4

  • Fukuyama Congenital Muscular Dystrophy

  • Fcmd

  • MDDGA4

  • Fukuyama Type Congenital Muscular Dystrophy

  • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related

  • Cerebromuscular Dystrophy, Fukuyama Type

  • Fukuyama Cmd

  • Fukuyama Muscular Dystrophy

  • Fukuyama Syndrome

  • Muscular Dystrophy, Congenital Progressive, With Mental Retardation

  • Muscular Dystrophy, Congenital, Fukuyama Type

  • Muscular Dystrophy, Congenital, With Central Nervous System Involvement

  • Polymicrogyria With Muscular Dystrophy

  • Congenital Muscular Dystrophy, Fukuyama Type

  • Fktn-Related Congenital Muscular Dystrophy

  • Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4

  • Cerebromuscular Dystrophy Fukuyama Type

  • Congenital Muscular Dystrophy Fukuyama Type

  • Micropolygyria With Muscular Dystrophy

  • Muscle-Eye-Brain Disease Fktn-Related

  • Walker-Warburg Syndrome Fktn-Related
Congenital Muscular Dystrophy-Dystroglycanopathy Type A

  • Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies

  • Mddga

  • Klissencephaly Type 2 With Muscular And Ocular Involvement

  • Lissencephaly Type 2 With Muscular And Ocular Involvement
Muscular Dystrophy

  • Muscular Dystrophies

  • Congenital Md

  • Congenital Muscular Dystrophy

  • Cmd

  • Mdc

  • Dystrophy, Muscular

  • Gower'S Muscular Dystrophy

  • Progressive Musclular Dystrophy

  • Pseudohypertrophic Atrophy

  • Pseudohypertrophic Muscle Paralysis

  • Pseudohypertrophic Muscular Atrophy

  • Pseudohypertrophic Muscular Dystrophy

  • Pseudohypertrophic Paralysis

  • Pseudomuscular Hypertrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy

  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. 상품명
효과
Purity
Rare Diseases
HY-RS07525 LARGE2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21879 Large2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28396 Large2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus LARGE2 VGNC VGNC:63191
Bos taurus LARGE2 VGNC VGNC:30789
Canis familiaris LARGE2 VGNC VGNC:42586
Macaca mulatta LARGE2 VGNC VGNC:74060
Rattus norvegicus LARGE2 RGD RGD:735214
Mus musculus LARGE2 MGD MGI:2443769
Others LARGE2 NCBI