2. Gene
  3. AK2 - adenylate kinase 2 Gene

AK2 - adenylate kinase 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as ADK2

Gene ID: 204 | Gene type: protein coding

About 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.

Summary

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 Products(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

AK2 Protein Structure

ADK

ADK: Adenylate kinase (20 - 205)

ADK_lid

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

  • 0
  • 100
  • 200
  • 239 a.a.
Protein Preferred Names Protein Names

adenylate kinase 2, mitochondrial

ATP-AMP transphosphorylase 2

Recombinant AK2 Proteins

Cat. No. Product Name Accession Purity
HY-P75522 AK2 Protein, Human (sf9, His-GST) P54819 (M1-I239) ≥95%

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (3)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-148063 DB0614 98.80% Unkown
HY-RS00506 AK2 Human Pre-designed siRNA Set A / Unkown
HY-RS04243 EIF2AK2 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source 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