GXYLT2 - glucoside xylosyltransferase 2 Gene

Homo sapiens

Also known as GLT8D4

Gene ID: 727936 | Gene type: protein coding

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

GXYLT2 Protein Structure

Glyco_transf_8

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05929	GXYLT2 Human Pre-designed siRNA Set A		/	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

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