2. Gene
  3. GALK2 - galactokinase 2 Gene

GALK2 - galactokinase 2 Gene

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

中文名称：半乳糖激酶 2

种属: Homo sapiens

同用名: GK2

基因 ID: 2585 | 基因类型: protein coding

关于 GALK2

Cytogenetic location: 15q21.1-q21.2 Genomic coordinates (GRCh38): 15:49,155,774-49,367,740 (from NCBI)

This gene has 22 transcripts (splice variants), 202 orthologues and 2 paralogues. Ubiquitous expression in kidney (RPKM 4.3), duodenum (RPKM 3.4) and 25 other tissues.

功能概要

该基因编码一种高效的 N-乙酰半乳糖胺 (GalNAc) 激酶，当半乳糖以高浓度存在时，该激酶具有半乳糖激酶活性。编码的蛋白质是 GHMP 激酶家族的成员。可变剪接导致多个转录本变体。[RefSeq 提供，2017 年 6 月]

This gene encodes a highly efficient N-acetylgalactosamine (GalNAc) kinase, which has galactokinase activity when galactose is present at high concentrations. The encoded protein is a member of the GHMP kinase family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017]

GALK2 基因产物(6)

mRNA Protein Name
NM_001001556.3 NP_001001556.1 N-acetylgalactosamine kinase isoform 2
NM_001289030.2 NP_001275959.1 N-acetylgalactosamine kinase isoform 3
NM_001289031.1 NP_001275960.1 N-acetylgalactosamine kinase isoform 3
NM_001352047.1 NP_001338976.1 N-acetylgalactosamine kinase isoform 4
NM_001352048.2 NP_001338977.1 N-acetylgalactosamine kinase isoform 4
NM_002044.4 NP_002035.1 N-acetylgalactosamine kinase isoform 1
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 galactokinase activity IDA
IDA: 通过直接分析推断
7542884 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

GALK2 蛋白结构

GalKase_gal_bdg

GalKase_gal_bdg: Galactokinase galactose-binding signature (24 - 73)

GHMP_kinases_N

GHMP_kinases_N: GHMP kinases N terminal domain (133 - 196)

GHMP_kinases_C

GHMP_kinases_C: GHMP kinases C terminal (355 - 418)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 458 a.a.
蛋白主名 其他名称

N-acetylgalactosamine kinase

galNAc kinase

重组 GALK2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70404 N-acetylgalactosamine kinase/GALK2 Protein, Human (HEK293, His) Q01415-1 (M1-A458) ≥95%

关联疾病

疾病名称 别名
Galactosemia I

Galactosemia

Galt Deficiency

Classic Galactosemia

Galactose-1-Phosphate Uridylyltransferase Deficiency

Galactose-1-Phosphate Uridyltransferase Deficiency

GALAC1

Galactosemia, Classic

Galactosemia Type 1

Galactosemias

Classical Galactosemia

Galactosaemia

Galactose Intolerance

Epimerase Deficiency Galactosemia

Galactokinase Deficiency Disease

Galactose Epimerase Deficiency

Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease

Gale Deficiency

Galk Deficiency

Udp-Galactose-4-Epimerase Deficiency Disease

Utp Hexose-1-Phosphate Uridylyltransferase Deficiency

Galactosemia 1

Galactosemia, Duarte Variant

Deficiency Of Galactokinase

Udpglucose 4-Epimerase Deficiency Disease

Classical Galactosaemia

Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency

Classic Galactosaemia

Deficiency Of Hexose-1-Phosphate Uridylyltransferase

Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase

Deficiency Of Galactose-1-Phosphate Uridylyltransferase

Galactose-1-Phosphate Uridyl Transferase Deficiency

Transferase Deficiency Galactosemia

Deficiency Of Uridyl Transferase

Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase

Utp-Hexose-1-Phosphate Uridyltransferase Deficiency
Galactosemia Iii

Galactose Epimerase Deficiency

Gale Deficiency

Udp-Galactose-4-Epimerase Deficiency

Epimerase Deficiency Galactosemia

Galactosemia Type 3

Gale-D

Uridine Diphosphate Galactose-4-Epimerase Deficiency

GALAC3

Galactosemia 3

Generalized Uridine Diphosphate Galactose-4-Epimerase Deficiency

Erythrocyte Uridine Diphosphate Galactose-4-Epimerase Deficiency

Galactosemia Type Iii

Udp-Galactose-4'-Epimerase Deficiency

Generalized Galactose Epimerase Deficiency

Generalized Gale Deficiency

Generalized Gale-D

Generalized Udp-Galactose-4-Epimerase Deficiency

Generalized Epimerase Deficiency Galactosemia

Erythrocyte Galactose Epimerase Deficiency

Erythrocyte Gale Deficiency

Erythrocyte Gale-D

Erythrocyte Udp-Galactose-4-Epimerase Deficiency

Erythrocyte Epimerase Deficiency Galactosemia

Galactosemias

Classical Galactosemia

Udpglucose 4-Epimerase Deficiency Disease
Galactosemia Ii

Galactokinase Deficiency

Galk Deficiency

Galactokinase Deficiency With Cataracts

Deficiency Of Galactokinase

GALAC2

Galk-D

Galactokinase Deficiency Galactosemia

Galactosemia 2

Galactosemia Type 2

Hereditary Galactokinase Deficiency

Galactokinase Deficiency, Cataract

Galactosemias

Galk - [Galactokinase Deficiency]
Superficial Keratitis
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-RS05244 GALK2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris GALK2 VGNC VGNC:41082
Macaca mulatta GALK2 VGNC VGNC:72870
Felis catus GALK2 VGNC VGNC:62440
Mus musculus GALK2 MGD MGI:1917226
Bos taurus GALK2 VGNC VGNC:29220
Rattus norvegicus GALK2 RGD RGD:1308691
Others GALK2 NCBI
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