GXYLT2 - glucoside xylosyltransferase 2 Gene

Also Known as GLT8D4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 727936

About GXYLT2

Cytogenetic location: 3p13 Genomic coordinates (GRCh38): 3:72,888,046-72,976,915 (from NCBI)

This gene has 3 transcripts (splice variants), 209 orthologues and 5 paralogues. Broad expression in ovary (RPKM 6.1), gall bladder (RPKM 5.3) and 22 other tissues.

Summary

The protein encoded by this gene is a xylosyltransferase that elongates O-linked glucose bound to epidermal growth factor (EGF) repeats. The encoded protein catalyzes the addition of xylose to the O-glucose-modified residues of EGF repeats of Notch proteins. [provided by RefSeq, Sep 2016]

GXYLT2 Products (1)

mRNA Protein Name
NM_001080393.2 NP_001073862.1 glucoside xylosyltransferase 2 precursor

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables UDP-xylosyltransferase activity IDA
IDA: Inferred from direct assay
19940119 GOA
Biological Process GO Annotation Evidence References Source
involved in O-glycan processing IDA
IDA: Inferred from direct assay
19940119 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

GXYLT2 Protein Structure

Glyco_transf_8

Glyco_transf_8: Glycosyl transferase family 8 (114 - 360)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 443 a.a.
Protein Preferred Names Protein Names

glucoside xylosyltransferase 2

  • glycosyltransferase 8 domain containing 4

Related Diseases

Diseases Alias
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z

  • Limb-Girdle Muscular Dystrophy 21
Inflammatory Bowel Disease 19

  • Inflammatory Bowel Disease 19

  • IBD19

  • Bowel Disease, Inflammatory, Type 19
Dowling-Degos Disease

  • Reticular Pigment Anomaly Of Flexures

  • Dark Dot Disease

  • Reticulate Acropigmentation Of Kitamura

  • Dowling-Degos Kitamura Disease

  • Kitamura Reticulate Acropigmentation

  • Ddd

  • Dowling-Degos-Kitamura Disease

  • Reticular Pigmented Anomaly Of Flexures
Spondylocostal Dysostosis

  • Jarcho-Levin Syndrome

  • Costovertebral Dysplasia

  • Spondylothoracic Dysostosis

  • Spondylothoracic Dysplasia

  • Scdo

  • Dysostosis, Spondylocostal
Adams-Oliver Syndrome

  • Adams Oliver Syndrome

  • Aos

  • Congenital Scalp Defects With Distal Limb Reduction Anomalies

  • Aplasia Cutis Congenita With Terminal Transverse Limb Defects

  • Congenital Scalp Defects With Distal Limb Anomalies

  • Limb, Scalp And Skull Defects

  • Limb Scalp And Skull Defects

  • Absence Defect Of Limbs, Scalp, And Skull
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. Product Name
Effect
Purity
Rare Diseases
HY-RS05929 GXYLT2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21863 Gxylt2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28380 Gxylt2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus GXYLT2 VGNC VGNC:29727
Rattus norvegicus GXYLT2 RGD RGD:1586482
Mus musculus GXYLT2 MGD MGI:2682940
Canis familiaris GXYLT2 VGNC VGNC:41571
Macaca mulatta GXYLT2 VGNC VGNC:73263
Felis catus GXYLT2 VGNC VGNC:62743
Others GXYLT2 NCBI