2. Gene
  3. XYLT2 - xylosyltransferase 2 Gene

XYLT2 - xylosyltransferase 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：木糖基转移酶 2

种属: Homo sapiens

同用名: SOS; XT2; XT-II; PXYLT2; xylT-II

基因 ID: 64132 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是木糖基转移酶的同种型，属于糖基转移酶家族。该酶将木糖从 UDP-木糖转移到核心蛋白的特定丝氨酸残基，并启动蛋白聚糖 (包括硫酸软骨素、硫酸乙酰肝素、肝素和硫酸皮肤素) 中糖胺聚糖链的生物合成。在硬皮病患者中增加的酶活性是确定系统性硬化症中硬化活性的诊断标志物。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2013 年 12 月]

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 基因产物(1)

mRNA Protein Name
NM_022167.4 NP_071450.2 xylosyltransferase 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables magnesium ion binding IDA
IDA: 通过直接分析推断
18023272 GOA
enables manganese ion binding IDA
IDA: 通过直接分析推断
18023272 GOA
enables protein xylosyltransferase activity IDA
IDA: 通过直接分析推断
17189265 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in chondroitin sulfate proteoglycan biosynthetic process IMP
IMP: 通过突变表型推断
17189265 GOA
involved in heparan sulfate proteoglycan biosynthetic process IMP
IMP: 通过突变表型推断
17189265 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular space IDA
IDA: 通过直接分析推断
25748573 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

XYLT2 蛋白结构

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.
蛋白主名 其他名称

xylosyltransferase 2

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

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS15908 XYLT2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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