XYLT2 - xylosyltransferase 2 Gene

Also Known as SOS; XT2; XT-II; PXYLT2; xylT-II

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 64132

About XYLT2

Cytogenetic location: 17q21.33 Genomic coordinates (GRCh38): 17:50,346,126-50,361,185 (from NCBI)

This gene has 7 transcripts (splice variants), 227 orthologues, 8 paralogues and is associated with 4 phenotypes. Ubiquitous expression in stomach (RPKM 12.9), testis (RPKM 8.6) and 25 other tissues.

Summary

The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the core protein and initiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate. The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]

XYLT2 Products (1)

mRNA Protein Name
NM_022167.4 NP_071450.2 xylosyltransferase 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables magnesium ion binding IDA
IDA: Inferred from direct assay
18023272 GOA
enables manganese ion binding IDA
IDA: Inferred from direct assay
18023272 GOA
enables protein xylosyltransferase activity IDA
IDA: Inferred from direct assay
17189265 GOA
Biological Process GO Annotation Evidence References Source
involved in chondroitin sulfate proteoglycan biosynthetic process IMP
IMP: Inferred from mutant phenotype
17189265 GOA
involved in heparan sulfate proteoglycan biosynthetic process IMP
IMP: Inferred from mutant phenotype
17189265 GOA
Cellular Component GO Annotation Evidence References Source
located in extracellular space IDA
IDA: Inferred from direct assay
25748573 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

XYLT2 Protein Structure

Branch

Branch: Core-2/I-Branching enzyme (234 - 487)

Xylo_C

Xylo_C: Xylosyltransferase C terminal (519 - 699)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 865 a.a.
Protein Preferred Names Protein Names

xylosyltransferase 2

  • UDP-D-xylose:proteoglycan core protein beta-D-xylosyltransferase

Related Diseases

Diseases Alias
Spondyloocular Syndrome

  • Spondylo-Ocular Syndrome

  • SOS
Pseudoxanthoma Elasticum

  • PXE

  • Gronblad-Strandberg Syndrome

  • Pseudoxanthoma Elasticum, Modifier Of Severity Of

  • Gronblad-Strandberg-Touraine Syndrome

  • Gronblad Strandberg Syndrome

  • Groenblad-Strandberg Syndrome

  • Nevus Elasticus

  • Pxe - [Pseudoxanthoma Elasticum]
Angioid Streaks
Transvestism

  • Dual-Role Transvestism

  • Fetishistic Transvestism

  • Cross Dresser

  • Transvestic Fetishism
Desbuquois Dysplasia

  • Desbuquois Syndrome

  • Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification

  • Dysplasia, Desbuquois
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures

  • SEMDJL1

  • Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1

  • Semdjl

  • Spondyloepimetaphyseal Dysplasia With Joint Laxity, 1, With Or Without Fractures

  • Semdjl-Beighton Type

  • Spondyloepimetaphyseal Dysplasia With Joint Laxity Beighton Type
Spondyloepimetaphyseal Dysplasia With Joint Laxity

  • Dysplasia, Spondyloepimetaphyseal, With Joint Laxity

  • Semdjl

  • Spondyloepimetaphyseal Dysplasia Joint Laxity

  • Semd-Jl

  • Semdjl1

  • Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1

  • Spondyloepimetaphyseal Dysplasia With Joint Laxity, Beighton Type
Retinal Detachment

  • Retinal Detachments

  • Rhegmatogenous Retinal Detachment

  • Ruptured Retina With Detachment

  • Retinal Hole With Detachment
Larsen-Like Syndrome B3gat3 Type

  • Larsen-Like Syndrome, B3gat3 Type

  • Multiple Joint Dislocations-Short Stature-Craniofacial Dysmorphism-Congenital Heart Defects Syndrome

  • Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Congenital Heart Defects

  • Joint Dislocations, Multiple, Short Stature, Craniofacial Dysmorphism, Congenital Heart Defects
Mucopolysaccharidosis, Type Iiic

  • Mucopolysaccharidosis Type Iiic

  • MPS3C

  • Mps Iiic

  • Sanfilippo Syndrome C

  • Heparan-Alpha-Glucosaminide N-Acetyltransferase Deficiency

  • Hgsnat Deficiency

  • Mpsiiic

  • Mucopolysaccharidosis Type 3c

  • Sanfilippo Syndrome Type C

  • Acetyl-Coa:Alpha-Glucosaminide N-Acetyltransferase Deficiency

  • Mucopoly-Saccharidosis Type 3c

  • Acetyl-Coa Alpha-Glucosaminide Acetyltransferase Deficiency

  • Acetyl-Coa Alpha-Glucosaminide N-Acetyltransferase Deficiency

  • Mps 3c

  • Mps Iii-C

  • Mucopolysaccharidosis 3c

  • Mucopolysaccharidosis Iii

  • Mps Iii C
Osteoporosis

  • Postmenopausal Osteoporosis

  • Osteoporosis, Postmenopausal

  • Bone Mineral Density Quantitative Trait Locus

  • Bmnd

  • Osteoporosis, Involutional

  • Osteoporosis, Susceptibility To

  • Osteoporosis, Postmenopausal, Susceptibility

  • Bone Mineral Density Variation Qtl, Osteoporosis

  • OSTEOP

  • Involutional Osteoporosis

  • Senile Osteoporosis

  • Osteoporosis Postmenopausal

  • Bone Mineral Density, Quantitative Trait Locus

  • Osteoporosis, Senile

  • Idiopathic Osteoporosis

  • Bone Rarefaction Nos

  • Type 1 Osteoporosis
Cataract

  • Cataracts

  • Cat - [Cataract]

  • Cataract Form

  • Lens Opacity

  • Lens Opacities
Mucopolysaccharidosis, Type Iiia

  • Mucopolysaccharidosis Type Iiia

  • MPS3A

  • Mps Iiia

  • Sanfilippo Syndrome A

  • Heparan Sulfate Sulfatase Deficiency

  • Sulfamidase Deficiency

  • Heparan Sulfamidase Deficiency

  • Mpsiiia

  • Mucopolysaccharidosis Type 3a

  • Sanfilippo Syndrome Type A

  • Mucopolysaccharidosis Iii-A

  • Heparane Sulfamidase Deficiency

  • Mps 3a

  • Mucopoly-Saccharidosis Type 3a

  • Mps Iii-A

  • Mucopolysaccharidosis 3a

  • Mucopolysaccharidosis Iii
Sotos Syndrome

  • Cerebral Gigantism

  • SOTOS

  • Chromosome 5q35 Deletion Syndrome

  • Sotos Syndrome 1, Formerly

  • Sotos1, Formerly

  • Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development

  • Sotos Sequence

  • Sotos' Syndrome

  • Sotos1

  • Sotos Syndrome 1
Osteochondrodysplasia

  • Skeletal Dysplasia

  • Chondrodystrophy

  • Congenital Anomaly Of Cartilage

  • Osteochondrodysplasias

  • Cartilage Development Disorder

  • Osteochondrodysplasia Syndrome

  • Dysplasia, Skeletal

  • Mucopolysaccharidosis Iv
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 (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS15908 XYLT2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus XYLT2 MGD MGI:2444797
Felis catus XYLT2 VGNC VGNC:67126
Macaca mulatta XYLT2 VGNC VGNC:78978
Canis familiaris XYLT2 VGNC VGNC:48476
Rattus norvegicus XYLT2 RGD RGD:619765
Bos taurus XYLT2 VGNC VGNC:55889
Others XYLT2 NCBI