1. Gene
  2. EXTL2 - exostosin like glycosyltransferase 2 Gene

EXTL2 - exostosin like glycosyltransferase 2 Gene

中文名称:外泌体蛋白样糖基转移酶 2

种属: Homo sapiens

同用名: EXTR2

基因 ID: 2135 | 基因类型: protein coding

关于 EXTL2

Cytogenetic location: 1p21.2 Genomic coordinates (GRCh38): 1:100,872,372-100,895,179 (from NCBI)

This gene has 7 transcripts (splice variants), 190 orthologues and 4 paralogues. Ubiquitous expression in adrenal (RPKM 10.0), placenta (RPKM 9.1) and 25 other tissues.

功能概要

启用 alpha-1,4-N-acetylgalactosaminyltransferase 活性和 glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase 活动。参与 N-乙酰葡糖胺代谢过程和 UDP-N-乙酰半乳糖胺代谢过程。位于胞质溶胶中;内质网;和核质。 [由基因组资源联盟提供,2022 年 4 月]

Enables alpha-1,4-N-acetylgalactosaminyltransferase activity and glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. Involved in N-acetylglucosamine metabolic process and UDP-N-acetylgalactosamine metabolic process. Located in cytosol; endoplasmic reticulum; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

EXTL2 基因产物(5)

mRNA Protein Name
NM_001033025.3 NP_001028197.1 exostosin-like 2 isoform 1
NM_001261440.2 NP_001248369.1 exostosin-like 2 isoform 2
NM_001261441.2 NP_001248370.1 exostosin-like 2 isoform 3
NM_001261442.2 NP_001248371.1 exostosin-like 2 isoform 4
NM_001439.4 NP_001430.1 exostosin-like 2 isoform 1
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 alpha-1,4-N-acetylgalactosaminyltransferase activity IDA
IDA: 通过直接分析推断
10318803 GOA
enables glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IDA
IDA: 通过直接分析推断
10318803 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32814053 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in N-acetylglucosamine metabolic process IDA
IDA: 通过直接分析推断
10318803 GOA
involved in UDP-N-acetylgalactosamine metabolic process IDA
IDA: 通过直接分析推断
10318803 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
10639137 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

EXTL2 蛋白结构

Glyco_transf_64

Glyco_transf_64: Glycosyl transferase family 64 domain (66 - 321)

  • 0
  • 100
  • 200
  • 300
  • 330 a.a.
蛋白主名 其他名称

exostosin-like 2

EXT-related protein 2

EXTL2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
EXTL2 Q9UBQ6 JPH3 Homo sapiens Q8WXH2 32814053
种属内
EXTL2 Q9UBQ6 JPH3 Homo sapiens Q8WXH2 32814053
种属内
EXTL2 Q9UBQ6 JPH3 Homo sapiens Q8WXH2 32814053
种属内
EXTL2 Q9UBQ6 SPRED1 Homo sapiens Q7Z699 32814053
种属内
EXTL2 Q9UBQ6 SPRED1 Homo sapiens Q7Z699 32814053
种属内
EXTL2 Q9UBQ6 SPRED1 Homo sapiens Q7Z699 32814053
种属内
EXTL2 Q9UBQ6 GFAP Homo sapiens P14136 32814053
种属内
EXTL2 Q9UBQ6 GFAP Homo sapiens P14136 32814053
种属内
EXTL2 Q9UBQ6 GFAP Homo sapiens P14136 32814053
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Hereditary Multiple Exostoses

Multiple Congenital Exostosis

Hereditary Multiple Exostoses 1

Hereditary Multiple Exostoses 2

Hereditary Multiple Exostoses 3

Multiple Exostosis Syndromes

Multiple Ostechondromas

Osteochondromatosis Syndrome

Exostoses Multiple Hereditary

Exostoses, Multiple Hereditary

Breast Pericanalicular Fibroadenoma

Pericanalicular Fibroadenoma

Pericanalicular Fibroadenoma Of Breast

Exostosis

Osteophyte

Exostoses

Orbital Exostosis

Exostosis Of Orbit

Bone Spur

Bony Outgrowth

Swimmer'S Exostosis

Osteophytes

External Exotoses

Cartilaginous Exostosis

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

Ehlers-Danlos Syndrome Progeroid Type

Ehlers-Danlos Syndrome, Progeroid Type, 2

EDSSPD2

Ehlers-Danlos Syndrome Spondylodysplastic Type 2

Ehlers-Danlos Syndrome, Progeroid Type, 2, Formerly

Edsp2, Formerly

Defective Biosynthesis Of Proteodermatan Sulfate

Xgpt Deficiency

Xylosylprotein 4-Beta-Galactosyltransferase Deficiency

B3galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome

B3galt6-Related Speds

B3galt6-Related Spondylodysplastic Eds

Beta3galt6-Deficient Eds

Ehlers-Danlos Syndrome Progeroid Type 2

Speds-B3galt6

Edsp2

Ehlers-Danlos, Spondylodysplastic Syndrome, Type 2

Ehlers-Danlos Syndrome, Progeroid Form

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

Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations

Spondyloepiphyseal Dysplasia

Chst3-Related Skeletal Dysplasia

Humerospinal Dysostosis

Spondyloepiphyseal Dysplasia, Omani Type

Chondrodysplasia With Multiple Dislocations

SEDCJD

Hsd

Cdmd

Humero-Spinal Dysostosis

Kozlowski Celermajer Tink Syndrome

Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type

Larsen Syndrome, Recessive Type

Humero-Spinal Dysostosis With Congenital Heart Disease

Omani Type

Sed

Chst3 Deficiency

Chst3-Related Dysplasia

Recessive Larsen Syndrome

Autosomal Recessive Larsen Syndrome

Sed With Luxations, Chst3 Type

Sed, Omani Type

Sdcd, Chst3 Type

Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type

Sed Omani Type

Spondyloepiphyseal Dysplasia Omani Type

Larsen Syndrome, Autosomal Recessive

Mucopolysaccharidosis Iv

Spondyloepiphyseal Dysplasia, Congenita

Omodysplasia

Omodysplasia Type 1

Omodysplasia 2

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

Mucopolysaccharidosis Iii

Sanfilippo Syndrome

Mucopolysaccharidosis Type Iii

Mucopolysaccharidosis Type 3

Mps Iii

Mpsiii

Sanfilippo Disease

Heparan Sulfate Sulfatase Deficiency

Mucopolysaccharidosis, Mps-Iii

N-Sulphoglucosamine Sulphohydrolase Deficiency

Naglu Deficiency

Sanfilippo'S Syndrome

Mucopoly-Saccharidosis Type 3

Mps3

Sanfilippos Syndrome

Mucopolysaccharidosis Type Iiia

Mps Iii B

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus EXTL2 MGD MGI:1889574
Macaca mulatta EXTL2 VGNC VGNC:72451
Felis catus EXTL2 VGNC VGNC:107533
Rattus norvegicus EXTL2 RGD RGD:1307684
Bos taurus EXTL2 VGNC VGNC:28668
Canis familiaris EXTL2 VGNC VGNC:40534
Others EXTL2 NCBI