1. Gene
  2. COLGALT2 - collagen beta(1-O)galactosyltransferase 2 Gene

COLGALT2 - collagen beta(1-O)galactosyltransferase 2 Gene

中文名称:胶原蛋白 β (1-O) 半乳糖基转移酶 2

种属: Homo sapiens

同用名: C1orf17; GLT25D2; ColGalT 2

基因 ID: 23127 | 基因类型: protein coding

关于 COLGALT2

Cytogenetic location: 1q25.3 Genomic coordinates (GRCh38): 1:183,929,662-184,037,728 (from NCBI)

This gene has 5 transcripts (splice variants), 243 orthologues and 5 paralogues. Biased expression in brain (RPKM 11.8), adrenal (RPKM 2.5) and 7 other tissues.

功能概要

预测可启用原胶原半乳糖基转移酶活性。预计参与胶原纤维组织。预测位于内质网腔内。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable procollagen galactosyltransferase activity. Predicted to be involved in Collagen fibril organization. Predicted to be located in endoplasmic reticulum lumen. [provided by Alliance of Genome Resources, Apr 2022]

COLGALT2 基因产物(3)

mRNA Protein Name
NM_001303420.2 NP_001290349.1 procollagen galactosyltransferase 2 isoform 2 precursor
NM_001303421.2 NP_001290350.1 procollagen galactosyltransferase 2 isoform 3
NM_015101.4 NP_055916.1 procollagen galactosyltransferase 2 isoform 1precursor
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 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

COLGALT2 蛋白结构

Glyco_tranf_2_4

Glyco_tranf_2_4: Glycosyl transferase family 2 (62 - 179)

Glyco_transf_25

Glyco_transf_25: Glycosyltransferase family 25 (LPS biosynthesis protein) (342 - 525)

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  • 626 a.a.
蛋白主名 其他名称

procollagen galactosyltransferase 2

glycosyltransferase 25 domain containing 2

COLGALT2 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
COLGALT2 Q8IYK4 UBQLN1 Homo sapiens Q9UMX0-2 25416956
种属内
COLGALT2 Q8IYK4 HPCAL1 Homo sapiens P37235 32296183
种属内
COLGALT2 Q8IYK4 HPCAL1 Homo sapiens P37235 32296183
种属内
COLGALT2 Q8IYK4 HPCAL1 Homo sapiens P37235 32296183
种属内
COLGALT2 Q8IYK4 UBQLN2 Homo sapiens Q9UHD9 32296183
种属内
COLGALT2 Q8IYK4 UBQLN2 Homo sapiens Q9UHD9 32296183
种属内
COLGALT2 Q8IYK4 UBQLN2 Homo sapiens Q9UHD9 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 COLGALT2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76954 GLT25D2 Protein, Human (sf9, His) Q8IYK4 (M1-S622) ≥95%

关联疾病

疾病名称 别名
Osteogenesis Imperfecta, Type Ix

Osteogenesis Imperfecta Type 9

Osteogenesis Imperfecta Type Ix

OI9

Oi Type Ix

Osteogenesis Imperfecta Sillence Type Ii/Iii Without Abnormality Of Type I Collagen

Oi, Type Ix

Oi 9

Osteogenesis Imperfecta 9

Oi-Ix

Bruck Syndrome

Osteogenesis Imperfecta With Congenital Joint Contractures

Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome

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
Macaca mulatta COLGALT2 VGNC VGNC:99871
Felis catus COLGALT2 VGNC VGNC:107862
Canis familiaris COLGALT2 VGNC VGNC:53337
Mus musculus COLGALT2 MGD MGI:2138232
Rattus norvegicus COLGALT2 RGD RGD:1304702
Others COLGALT2 NCBI