2. Gene
  3. AK2 - adenylate kinase 2 Gene

AK2 - adenylate kinase 2 Gene

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

中文名称：腺苷酸激酶 2

种属: Homo sapiens

同用名: ADK2

基因 ID: 204 | 基因类型: protein coding

关于 AK2

Cytogenetic location: 1p35.1 Genomic coordinates (GRCh38): 1:33,007,940-33,036,883 (from NCBI)

This gene has 24 transcripts (splice variants), 241 orthologues, 9 paralogues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 27.8), small intestine (RPKM 20.9) and 25 other tissues.

功能概要

腺苷酸激酶通过催化磷酸基团在腺嘌呤核苷酸之间的可逆转移来参与调节细胞内的腺嘌呤核苷酸组成。已在脊椎动物中鉴定出腺苷酸激酶的三种同工酶，即 1、2 和 3；该基因编码同工酶 2。这些同工酶的表达具有组织特异性和发育调节。同工酶 2 定位于线粒体膜间隙，可能在细胞凋亡中发挥作用。该基因的突变是网状发育不全的原因。交替剪接导致多个转录本变体。在 1 号和 2 号染色体上发现了该基因的假基因。[RefSeq 提供，2010 年 11 月]

Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in Apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010]

AK2 基因产物(8)

mRNA Protein Name
NM_001199199.3 NP_001186128.1 adenylate kinase 2, mitochondrial isoform c
NM_001319139.3 NP_001306068.1 adenylate kinase 2, mitochondrial isoform d
NM_001319140.2 NP_001306069.1 adenylate kinase 2, mitochondrial isoform e
NM_001319141.3 NP_001306070.1 adenylate kinase 2, mitochondrial isoform f
NM_001319142.3 NP_001306071.1 adenylate kinase 2, mitochondrial isoform g
NM_001319143.2 NP_001306072.1 adenylate kinase 2, mitochondrial isoform h
NM_001625.4 NP_001616.1 adenylate kinase 2, mitochondrial isoform a
NM_013411.5 NP_037543.1 adenylate kinase 2, mitochondrial isoform b
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 adenylate kinase activity EXP
EXP: 通过实验结果推断
6182143 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32814053 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

AK2 蛋白结构

ADK

ADK: Adenylate kinase (20 - 205)

ADK_lid

ADK_lid: Adenylate kinase, active site lid (142 - 177)

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

adenylate kinase 2, mitochondrial

ATP-AMP transphosphorylase 2

关联疾病

疾病名称 别名
Reticular Dysgenesis

Severe Combined Immunodeficiency With Leukopenia

De Vaal Disease

Congenital Aleukia

Aleukocytosis

Hematopoietic Hypoplasia, Generalized

Reticular Dysgenesia

Devaal Disease

Rd

Ak2 Deficiency

Congenital Aleukocytosis

Generalized Hematopoietic Hypoplasia

Scid With Leukopenia

RDYS
Severe Combined Immunodeficiency

Scid

Severe Combined Immunodeficiency Disease

Combined T And B Cell Inborn Immunodeficiency

Immunodeficiency, Severe Combined

Scid - [Severe Combined Immunodeficiencies]
Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia
Coronin-1a Deficiency
Immunodeficiency 11b With Atopic Dermatitis

IMD11B

Atopic Dermatitis, Elevated Ige, And Eosinophilia

Immunodeficiency 11b
Omenn Syndrome

Histiocytic Medullary Reticulosis

Severe Combined Immunodeficiency With Hypereosinophilia

Combined Immunodeficiency With Hypereosinophilia

Reticuloendotheliosis, Familial, With Eosinophilia

Reticuloendotheliosis Familial With Eosinophilia

Familial Reticuloendotheliosis

Omenn'S Syndrome

OS

Malignant Histiocytosis
Adenosine Deaminase Deficiency

Ada Deficiency

Ada-Scid

Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency

Adenosine Deaminase Deficient Severe Combined Immunodeficiency

Scid Due To Ada Deficiency

Severe Combined Immunodeficiency Due To Ada Deficiency

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency

Ada

Scid Due To Adenosine Deaminase Deficiency
Purine Nucleoside Phosphorylase Deficiency

Purine-Nucleoside Phosphorylase Deficiency

Pnp Deficiency

Nucleoside Phosphorylase Deficiency

Immunodeficiency Due To Purine Nucleoside Phosphorylase Deficiency

Deficiency Of Inosine Phosphorylase

Pnpase Deficiency

PNPD
Bare Lymphocyte Syndrome, Type Ii

Mhc Class Ii Deficiency

Bare Lymphocyte Syndrome

Major Histocompatibility Complex Class Ii Deficiency

Bare Lymphocyte Syndrome 2

Bare Lymphocyte Syndrome Type 2

Severe Combined Immunodeficiency, Hla Class Ii-Negative

Bare Lymphocyte Syndrome, Type Ii, Complementation Group C

Bare Lymphocyte Syndrome, Type Ii, Complementation Group D

Bare Lymphocyte Syndrome Type Ii

Scid, Hla Class Ii-Negative

Bare Lymphocyte Syndrome, Type Ii, Complementation Group A

Bare Lymphocyte Syndrome, Type Ii, Complementation Group B

Scid Due To Absent Class Ii Hla Antigens

Hla Class 1 Deficiency

Scid, Hla Class 2-Negative

Bls Type Ii

Bare Lymphocyte Syndrome Type 2, Complementation Group A

Bare Lymphocyte Syndrome Type 2, Complementation Group E

Severe Combined Immunodeficiency

Bls, Type Ii

Bls

Bare Lymphocyte Syndrome, Type Ii, Complementation Group E

Blsii

Bls Type 1

Bls 2

Scid Due To Absence Of Class Ii Hla Antigens

Severe Combined Immunodeficiency Due To Absent Class Ii Human Leukocyte Antigens

Immunodeficiency By Defective Expression Of Mhc Class Ii

BLS2

Bare Lymphocyte Syndrome Type Ii Complementation Group A

Bare Lymphocyte Syndrome Type Ii Complementation Group B

Bare Lymphocyte Syndrome Type Ii Complementation Group C

Bare Lymphocyte Syndrome Type Ii Complementation Group D

Bare Lymphocyte Syndrome Type Ii Complementation Group E

Bls Ii

Hereditary Mhc Class Ii Deficiency

Hla Class Ii Deficient Combined Immunodeficiency

Mhc-Ii Deficiency

Scid Hla Class Ii-Negative

Severe Combined Immunodeficiency Hla Class Ii-Negative

Bl-2

Immunodeficiency By Defective Expression Of Hla Class 2

Hla Class 2-Negative Severe Combined Immunodeficiency
Purine-Pyrimidine Metabolic Disorder

Inborn Errors Of Purine-Pyrimidine Metabolism

Disorder Of Purine Or Pyrimidine Metabolism
Severe Congenital Neutropenia

Congenital Neutropenia

Neutropenia, Severe Congenital

Congenital Agranulocytosis

Infantile Genetic Agranulocytosis

Kostmann Disease

Kostmann'S Agranulocytosis

Kostmann'S Syndrome

Severe Infantile Genetic Neutropenia
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-161512 hAChE/hBACE-1-IN-4 Inhibitor / 否
HY-RS00506 AK2 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS04243 EIF2AK2 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 AK2 VGNC VGNC:37746
Mus musculus AK2 MGD MGI:87978
Bos taurus AK2 VGNC VGNC:25771
Felis catus AK2 VGNC VGNC:59706
Macaca mulatta AK2 VGNC VGNC:69761
Rattus norvegicus AK2 RGD RGD:2077
Others AK2 NCBI
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